Q02750
EV
Gene name |
MAP2K1 |
Protein name |
Dual specificity mitogen-activated protein kinase kinase 1 |
Names |
MAP kinase kinase 1, MAPKK 1, MKK1, ERK activator kinase 1, MAPK/ERK kinase 1, MEK 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5604 |
EC number |
2.7.12.2: Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
Protein Class |
DUAL SPECIFICITY MITOGEN-ACTIVATED PROTEIN KINASE KINASE DSOR1-LIKE PROTEIN (PTHR47448) |
Descriptions
MAP2K1 encodes for Dual specificity mitogen-activated protein kinase kinase 1, belongs to MAP2Ks family, plays an important role in MAP kinase signal transduction pathway. The α-helix 1 in the activation loop of MAP2K1 is shifted outwards from the active site because of the NRD. NRD of MAP2K1 prevents MAP2K1 changing to the active conformation. The autoinhibitory state of MAP2K1 is more stable as dimer in the absence of its own substrates or other interacting partners. The several interactions span from the N-terminal to the C-terminal to form dimer. Dimerization of MAP2K1 block access of the substrate binding site and the activation loop from macromolecules.
Autoinhibitory domains (AIDs)
Target domain |
68-361 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
Structural analysis |
Accessory elements
207-228 (Activation loop from InterPro)
Target domain |
68-361 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Min X et al. (2009) "The structure of the MAP2K MEK6 reveals an autoinhibitory dimer", Structure (London, England : 1993), 17, 96-104
- Ohren JF et al. (2004) "Structures of human MAP kinase kinase 1 (MEK1) and MEK2 describe novel noncompetitive kinase inhibition", Nature structural & molecular biology, 11, 1192-7
- Fischmann TO et al. (2009) "Crystal structures of MEK1 binary and ternary complexes with nucleotides and inhibitors", Biochemistry, 48, 2661-74
- Park E et al. (2019) "Architecture of autoinhibited and active BRAF-MEK1-14-3-3 complexes", Nature, 575, 545-550
Autoinhibited structure
Activated structure
71 structures for Q02750
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1S9J | X-ray | 240 A | A | 62-393 | PDB |
| 2P55 | X-ray | 280 A | A | 62-393 | PDB |
| 3DV3 | X-ray | 230 A | A | 62-382 | PDB |
| 3DY7 | X-ray | 270 A | A | 62-393 | PDB |
| 3E8N | X-ray | 250 A | A | 62-393 | PDB |
| 3EQB | X-ray | 262 A | A | 62-393 | PDB |
| 3EQC | X-ray | 180 A | A | 35-393 | PDB |
| 3EQD | X-ray | 210 A | A | 35-393 | PDB |
| 3EQF | X-ray | 270 A | A | 35-393 | PDB |
| 3EQG | X-ray | 250 A | A | 35-393 | PDB |
| 3EQH | X-ray | 200 A | A | 35-393 | PDB |
| 3EQI | X-ray | 190 A | A | 35-393 | PDB |
| 3MBL | X-ray | 260 A | A | 62-382 | PDB |
| 3ORN | X-ray | 280 A | A | 62-393 | PDB |
| 3OS3 | X-ray | 280 A | A | 62-393 | PDB |
| 3PP1 | X-ray | 270 A | A | 62-382 | PDB |
| 3SLS | X-ray | 230 A | PDB | ||
| 3V01 | X-ray | 270 A | A | 62-393 | PDB |
| 3V04 | X-ray | 270 A | A | 62-393 | PDB |
| 3VVH | X-ray | 200 A | A/B/C | 62-393 | PDB |
| 3W8Q | X-ray | 220 A | A | 39-382 | PDB |
| 3WIG | X-ray | 270 A | A | 62-393 | PDB |
| 3ZLS | X-ray | 250 A | A | 37-383 | PDB |
| 3ZLW | X-ray | 212 A | A | 37-383 | PDB |
| 3ZLX | X-ray | 220 A | A | 37-383 | PDB |
| 3ZLY | X-ray | 211 A | A | 37-383 | PDB |
| 3ZM4 | X-ray | 237 A | A | 37-383 | PDB |
| 4AN2 | X-ray | 250 A | A | 61-392 | PDB |
| 4AN3 | X-ray | 210 A | A | 61-392 | PDB |
| 4AN9 | X-ray | 280 A | A | 61-392 | PDB |
| 4ANB | X-ray | 220 A | A | 61-392 | PDB |
| 4ARK | X-ray | 260 A | A | 62-393 | PDB |
| 4LMN | X-ray | 280 A | A | 62-393 | PDB |
| 4MNE | X-ray | 285 A | A/D/E/H | 62-393 | PDB |
| 4U7Z | X-ray | 280 A | A | 62-393 | PDB |
| 4U80 | X-ray | 280 A | A | 62-393 | PDB |
| 4U81 | X-ray | 270 A | A | 62-393 | PDB |
| 5BX0 | X-ray | 293 A | A | 37-383 | PDB |
| 5EYM | X-ray | 270 A | A/B | 35-393 | PDB |
| 5HZE | X-ray | 240 A | A | 37-383 | PDB |
| 5YT3 | X-ray | 290 A | A/B/C/D | 39-382 | PDB |
| 6NYB | EM | 410 A | B | 1-393 | PDB |
| 6PP9 | X-ray | 259 A | B | 1-393 | PDB |
| 6Q0J | EM | 490 A | C/D | 1-393 | PDB |
| 6Q0T | EM | 570 A | C | 1-392 | PDB |
| 6U2G | X-ray | 289 A | A | 2-393 | PDB |
| 6V2W | X-ray | 312 A | B | 1-393 | PDB |
| 6X2P | X-ray | 240 A | D | 28-44 | PDB |
| 6X2S | X-ray | 250 A | D | 29-44 | PDB |
| 6X2X | X-ray | 246 A | D | 29-44 | PDB |
| 7B3M | X-ray | 230 A | PDB | ||
| 7B7R | X-ray | 170 A | PDB | ||
| 7B94 | X-ray | 200 A | PDB | ||
| 7B9L | X-ray | 170 A | PDB | ||
| 7F2X | X-ray | 201 A | A | 45-392 | PDB |
| 7M0T | X-ray | 319 A | B | 1-393 | PDB |
| 7M0U | X-ray | 309 A | B | 1-393 | PDB |
| 7M0V | X-ray | 316 A | B | 1-393 | PDB |
| 7M0W | X-ray | 309 A | B | 1-393 | PDB |
| 7M0X | X-ray | 247 A | B | 1-393 | PDB |
| 7M0Y | X-ray | 345 A | B | 1-393 | PDB |
| 7M0Z | X-ray | 312 A | B | 1-393 | PDB |
| 7MFD | EM | 366 A | B | 1-393 | PDB |
| 7PQV | X-ray | 213 A | A | 39-382 | PDB |
| 7UMB | X-ray | 323 A | C | 35-393 | PDB |
| 7XLP | X-ray | 210 A | A | 37-383 | PDB |
| 7XNC | X-ray | 210 A | A | 37-383 | PDB |
| 8CHF | EM | 425 A | E/F | 1-393 | PDB |
| 8DGS | EM | 430 A | B | 1-392 | PDB |
| 8DGT | EM | 390 A | B | 1-392 | PDB |
| AF-Q02750-F1 | Predicted | AlphaFoldDB |
232 variants for Q02750
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000819149 rs727504413 CA181038 RCV000154603 |
19 | A>G | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA279993 RCV000037590 RCV001787832 RCV001582510 rs397516789 |
42 | L>F | Cardiofaciocutaneous syndrome 3 Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000547883 rs1555416037 |
43 | D>missing | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA392929105 RCV000824934 rs1595860875 |
46 | Q>L | Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000421374 rs1057519728 CA16602882 RCV000442281 RCV000432046 RCV000431446 |
53 | F>I | Gastric adenocarcinoma Neoplasm of the large intestine Lung adenocarcinoma Malignant melanoma of skin [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16602880 COSM1725008 RCV000430169 COSM555604 RCV000436917 RCV000419468 rs1057519908 RCV000440832 |
53 | F>L | lung Gastric adenocarcinoma Neoplasm of the large intestine Lung adenocarcinoma haematopoietic_and_lymphoid_tissue Malignant melanoma of skin [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1057519728 COSM1725008 COSM555604 RCV000435966 CA16602452 |
53 | F>L | lung Melanoma haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000158002 RCV000014278 CA279966 RCV000520164 VAR_035093 rs121908594 |
53 | F>S | Cardiofaciocutaneous syndrome 3 CFC3 Cardio-facio-cutaneous syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1057519728 RCV000429056 RCV000421852 CA16602881 RCV000422476 RCV000439716 |
53 | F>V | Neoplasm of the large intestine Gastric adenocarcinoma Lung adenocarcinoma Malignant melanoma of skin [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16602453 rs1057519729 VAR_084452 COSM1235481 |
56 | Q>P | lung stomach MEL; somatic mutation [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
CA16602628 rs397516790 VAR_084453 |
57 | K>E | MEL; somatic mutation [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000419591 RCV000420720 RCV000429649 RCV000427279 RCV000436816 RCV000437917 CA16602629 RCV000430292 COSM1235478 rs869025608 |
57 | K>N | lung Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck autonomic_ganglia Melanoma skin Gastric adenocarcinoma Lung adenocarcinoma haematopoietic_and_lymphoid_tissue Prostate adenocarcinoma Malignant melanoma of skin [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA356995 COSM1235478 rs869025608 VAR_084454 |
57 | K>N | lung autonomic_ganglia skin MEL; somatic mutation; results in increased MAPK signal transduction haematopoietic_and_lymphoid_tissue [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
RCV000037591 rs397516790 RCV000158014 CA134595 |
57 | K>Q | RASopathy Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000437934 RCV000426154 RCV000436846 RCV000442142 rs1057519909 CA16602883 RCV000427226 RCV000444739 |
57 | K>T | Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma Malignant melanoma of skin [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2093484335 RCV001034615 |
58 | Q>H | Cardiofaciocutaneous syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001813514 RCV000593777 RCV001860225 rs774932586 RCV000681073 CA7623881 |
84 | K>R | Noonan syndrome and Noonan-related syndrome RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000522848 RCV000158005 CA134601 RCV001813322 rs397516791 |
92 | L>R | Noonan syndrome and Noonan-related syndrome Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000680291 rs151207265 CA296099 RCV001857557 |
93 | V>I | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000420695 CA16602647 rs1057519819 |
99 | I>T | Neoplasm [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000429680 CA16602648 COSM3728157 rs730880502 |
103 | I>N | Neoplasm haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA10603467 rs727504819 RCV001250384 RCV000763976 RCV001027695 RCV000388257 |
108 | R>L | Cardiofaciocutaneous syndrome 3 RASopathy Noonan syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000156157 rs727504819 CA184279 RCV000654956 COSM701436 |
108 | R>Q | lung RASopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA392930403 RCV000824935 rs1298033161 |
108 | R>W | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16602649 RCV000440339 rs1057519730 |
111 | I>N | Neoplasm [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057519730 CA16602454 RCV000434378 COSM1238027 |
111 | I>S | Melanoma skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA392930543 rs1428775799 RCV000623381 RCV001813305 |
115 | L>V | Noonan syndrome and Noonan-related syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1057519820 CA16602650 RCV000423068 |
119 | H>P | Neoplasm [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000439225 rs1057519821 CA16602652 |
120 | E>D | Neoplasm [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000433785 rs1057519821 CA16602651 |
120 | E>D | Neoplasm [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM555601 CA16602455 COSM1315829 rs1057519731 RCV000441586 RCV000424259 |
121 | C>S | lung NS Melanoma Lung adenocarcinoma haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1057519856 COSM555601 COSM1315829 CA16602775 RCV000439789 |
121 | C>S | lung NS Lung adenocarcinoma haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001312196 RCV000763361 RCV000220187 CA10576999 RCV000844674 rs876657651 |
122 | N>D | Cardiofaciocutaneous syndrome 3 RASopathy Noonan syndrome Noonan syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000417448 CA279996 COSM1315861 RCV000436322 RCV001813306 RCV000435315 rs397516792 RCV000680623 RCV001542689 RCV000037595 RCV000425638 RCV000424633 |
124 | P>L | Malignant neoplasm of body of uterus Cardiofaciocutaneous syndrome 3 Noonan syndrome and Noonan-related syndrome Melanoma skin Neoplasm of the large intestine Cardio-facio-cutaneous syndrome Malignant melanoma of skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs397516792 RCV000419962 CA16602250 RCV000425396 RCV000418888 COSM1167912 RCV001078439 RCV000436127 |
124 | P>Q | Malignant neoplasm of body of uterus Cardiofaciocutaneous syndrome 3 skin Neoplasm of the large intestine Malignant melanoma of skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000433235 RCV000824936 RCV001250385 RCV000443916 RCV000444865 RCV000433927 RCV000989347 CA16602456 rs1057519732 RCV000426713 COSM235614 RCV000482718 |
124 | P>S | Malignant neoplasm of body of uterus Cardiofaciocutaneous syndrome 3 Noonan syndrome RASopathy large_intestine Melanoma urinary_tract skin Neoplasm of the large intestine Malignant melanoma of skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA392930699 RCV000680037 rs1057519732 |
124 | P>T | Cardiofaciocutaneous syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000999626 rs1595861880 CA392930718 |
125 | Y>C | Cardio-facio-cutaneous syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1374186 CA16602251 rs121908596 RCV000439613 |
128 | G>D | large_intestine Melanoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA296125 VAR_069780 rs730880508 COSM1517232 RCV000158013 |
128 | G>V | lung RASopathy CFC3 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000207493 RCV000211725 CA280038 COSM1517232 RCV000043673 rs121908596 |
128 | G>V | lung Cardiofaciocutaneous syndrome 3 Cardio-facio-cutaneous syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1057519805 CA16602630 COSM1235480 RCV000422377 |
129 | F>L | large_intestine Melanoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA280036 VAR_035094 rs121908595 |
130 | Y>C | CFC3 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
CA392930783 RCV000787941 rs397516793 |
130 | Y>N | Cardiofaciocutaneous syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA271642388 rs533695080 RCV001293720 |
143 | M>V | Cardiofaciocutaneous syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001265988 rs1891815342 |
177 | L>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA392936079 rs1595884713 RCV000824937 |
193 | P>A | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000418114 COSM232755 CA16602457 rs1057519733 RCV001266169 |
203 | E>K | large_intestine Melanoma skin breast Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1057519822 RCV000422017 CA16602653 |
211 | V>D | Neoplasm [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727505206 RCV000156699 RCV000700016 CA185378 |
211 | V>I | RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1057519823 CA16602654 RCV000432883 |
215 | L>P | Neoplasm [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001507882 CA10577000 rs772752167 RCV001853460 RCV000219809 |
243 | Q>H | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000779173 CA271674064 rs1007782463 |
244 | S>* | MAP2K1-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057519734 COSM224488 CA16602458 RCV000430494 |
264 | P>S | Melanoma skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000413673 RCV000654948 rs747807884 CA7624026 |
291 | R>G | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA392937398 rs1595886354 RCV000824939 |
291 | R>K | Noonan syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA134625 RCV001852782 RCV000037603 rs397516794 |
292 | T>S | RASopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA392937508 RCV000654941 rs1555420826 |
306 | P>L | RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000705987 CA7624067 RCV000763977 rs771613524 |
321 | P>S | RASopathy Noonan syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7624098 rs746354996 RCV000527582 RCV000223062 |
347 | A>T | RASopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7623845 RCV000587428 rs761150136 |
4 | K>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1595831212 CA392931545 |
10 | Q>H | No |
ClinGen Ensembl |
|
|
rs2093343985 RCV001194347 |
10 | Q>L | No |
ClinVar dbSNP |
|
|
CA392931560 rs1267190015 |
12 | N>H | No |
ClinGen gnomAD |
|
|
rs868181833 CA271646509 |
13 | P>Q | No |
ClinGen Ensembl |
|
|
rs1595831221 CA392931587 |
14 | A>T | No |
ClinGen Ensembl |
|
|
rs916502006 CA271646517 |
15 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7623846 rs764535990 |
15 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA392931604 rs764535990 |
15 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1566991692 RCV000722820 |
16 | D>missing | No |
ClinVar dbSNP |
|
|
rs1330053912 CA392931620 |
16 | D>E | No |
ClinGen gnomAD |
|
|
CA392931616 rs1455356412 |
16 | D>V | No |
ClinGen gnomAD |
|
|
CA392931626 rs1157933155 |
17 | G>R | No |
ClinGen gnomAD |
|
|
rs1349988835 RCV000995375 CA392931644 |
18 | S>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1349988835 CA392931642 |
18 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA271646532 rs994693514 |
22 | G>W | No |
ClinGen TOPMed |
|
|
rs1290055913 CA392931717 |
24 | S>N | No |
ClinGen gnomAD |
|
|
rs553162958 CA7623848 |
25 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392931731 rs1228037386 |
26 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA392931740 rs1290811972 |
26 | A>V | No |
ClinGen gnomAD |
|
|
rs1277076291 CA392928883 |
29 | N>S | No |
ClinGen gnomAD |
|
|
CA392928922 rs1203670813 |
32 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1398951177 CA392928932 |
33 | L>S | No |
ClinGen TOPMed |
|
|
CA392928981 rs1269147448 |
36 | K>N | No |
ClinGen gnomAD |
|
|
rs1245718564 CA392929019 |
40 | L>V | No |
ClinGen gnomAD |
|
|
rs1358265797 CA392929050 |
42 | L>R | No |
ClinGen TOPMed |
|
|
rs1199533507 CA392929075 |
44 | E>G | No |
ClinGen gnomAD |
|
|
CA271640690 rs1049040928 |
47 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM1235485 RCV000781514 rs1567009054 CA392929123 |
47 | R>Q | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM3690509 rs910099707 CA271640694 |
49 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA392929226 rs1567009083 |
56 | Q>* | No |
ClinGen Ensembl |
|
|
RCV000207500 rs869025339 |
59 | K>missing | No |
ClinVar dbSNP |
|
|
RCV000413847 rs1057518078 |
60 | V>missing | No |
ClinVar dbSNP |
|
|
CA296106 RCV000158003 rs730880501 |
60 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1057518080 RCV000413323 |
62 | E>missing | No |
ClinVar dbSNP |
|
|
rs727504317 COSM1678546 CA180743 COSM1235479 |
67 | D>N | lung ovary large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA392929356 rs1265350762 |
72 | S>G | No |
ClinGen TOPMed |
|
|
rs547530008 CA271640782 |
72 | S>N | No |
ClinGen Ensembl |
|
|
CA392929474 rs1261366694 |
83 | F>V | No |
ClinGen TOPMed |
|
|
rs762354445 RCV000825953 CA7623882 |
88 | K>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA392929558 rs1265809314 |
89 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762110054 CA271640899 |
94 | M>R | No |
ClinGen Ensembl |
|
|
CA271640885 rs368143400 |
94 | M>V | No |
ClinGen ESP |
|
|
CA7623886 rs751770209 |
96 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA347244 rs797044593 |
102 | E>G | No |
ClinGen Ensembl |
|
|
RCV000158006 CA296109 rs730880502 |
103 | I>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA392930365 rs752994941 |
106 | A>S | No |
ClinGen ExAC TOPMed |
|
|
CA7623910 rs752994941 |
106 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA392930380 rs1567009717 |
107 | I>V | No |
ClinGen Ensembl |
|
|
CA392930561 rs1262822818 |
116 | Q>R | No |
ClinGen TOPMed |
|
|
rs730880503 RCV000505738 CA296112 |
119 | H>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs757254963 CA7623913 |
122 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs778650731 CA7623914 |
123 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs397516792 RCV000413383 CA16042967 |
124 | P>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA271642346 rs1013906172 COSM1374184 |
127 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA279999 rs397516793 |
130 | Y>H | No |
ClinGen Ensembl |
|
|
rs1567009772 CA392930870 |
135 | S>R | No |
ClinGen Ensembl |
|
|
rs1271363673 CA392930891 |
136 | D>N | No |
ClinGen TOPMed |
|
|
CA296115 RCV000158009 rs730880504 |
138 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA392930996 rs1474593504 |
141 | I>M | No |
ClinGen gnomAD |
|
|
CA392930984 rs1189360966 |
141 | I>V | No |
ClinGen gnomAD |
|
|
rs771604017 CA7623921 |
145 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7623939 rs755707394 |
147 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1388443307 CA392931802 |
149 | G>V | No |
ClinGen gnomAD |
|
|
CA271647378 rs199504372 |
156 | K>E | No |
ClinGen 1000Genomes |
|
|
CA7623942 rs201208360 |
157 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7623945 rs747171317 |
165 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs886051366 CA10647289 RCV001776725 |
168 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1250062324 CA392932164 |
174 | I>R | No |
ClinGen gnomAD |
|
|
rs866411301 CA271648770 |
176 | G>S | No |
ClinGen Ensembl |
|
|
CA392932206 rs1254367539 |
181 | R>M | No |
ClinGen TOPMed |
|
|
rs947740060 CA271648795 |
184 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs769044712 CA7623966 |
185 | K>R | No |
ClinGen ExAC TOPMed |
|
|
CA7623991 rs774278448 |
198 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1262046641 CA392936157 |
199 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1640323 rs759605592 CA7623992 |
201 | R>C | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA234222 rs727503996 |
203 | E>G | No |
ClinGen Ensembl |
|
|
rs1019098903 CA271671674 |
212 | S>T | No |
ClinGen TOPMed |
|
|
CA392936338 rs1313264011 |
213 | G>R | No |
ClinGen TOPMed |
|
|
rs761324501 CA7623996 |
217 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA296119 rs730880506 RCV000158011 |
219 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA392936568 rs1473690179 COSM1374189 |
231 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA271674033 rs892593369 |
235 | L>F | No |
ClinGen Ensembl |
|
|
rs761435303 CA7624012 |
242 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA296122 RCV000158012 rs730880507 |
244 | S>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7624014 rs760016123 |
255 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1326401609 COSM555599 CA392937094 |
256 | M>T | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1334665647 CA392937114 |
257 | A>V | No |
ClinGen gnomAD |
|
|
COSM1214374 rs753236280 CA7624016 |
258 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1275152060 CA392937143 |
260 | R>K | No |
ClinGen gnomAD |
|
|
CA392937156 rs1595886282 |
261 | Y>D | No |
ClinGen Ensembl |
|
|
rs1567025858 CA392937202 RCV000680631 |
265 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA392937214 rs1250009806 |
266 | P>T | No |
ClinGen gnomAD |
|
|
CA7624019 rs754086223 |
267 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA392937237 rs1555420656 RCV000590458 |
268 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7624020 rs757459909 RCV000214154 |
268 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1555420658 CA392937269 RCV000589002 |
271 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA392937286 rs1249074206 |
274 | M>K | No |
ClinGen TOPMed |
|
|
rs1375174465 CA392937299 |
275 | F>L | No |
ClinGen gnomAD |
|
|
rs1205184981 CA392937305 |
276 | G>E | No |
ClinGen TOPMed |
|
|
rs1284398161 CA392937306 |
277 | C>S | No |
ClinGen TOPMed |
|
|
rs916531861 CA271674139 |
279 | V>A | No |
ClinGen TOPMed |
|
|
CA7624023 rs780066304 |
282 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144080051 CA134622 |
283 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1338185628 CA392937358 |
284 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs768480988 CA7624024 |
288 | P>S | No |
ClinGen ExAC gnomAD |
|
|
RCV001175081 rs1893005622 |
288 | P>SRCQGAGADVWVPGGRRCG* | No |
ClinVar dbSNP |
|
|
rs769383345 CA7624027 |
292 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000596132 rs397516794 CA392937406 |
292 | T>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA271674163 rs918690546 |
293 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA392937414 rs1205783274 |
294 | G>R | No |
ClinGen gnomAD |
|
|
CA392937417 rs1289766973 |
294 | G>V | No |
ClinGen gnomAD |
|
|
CA392937418 rs1461545359 |
295 | R>G | No |
ClinGen TOPMed |
|
|
rs773890369 CA7624048 |
301 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392937481 rs1595887100 |
302 | M>I | No |
ClinGen Ensembl |
|
|
CA271675760 rs1023593707 |
302 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA392937476 rs1023593707 |
302 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392937502 rs1595887104 |
305 | R>Q | No |
ClinGen Ensembl |
|
|
rs761222249 CA7624049 |
306 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA392937532 rs1567026612 |
310 | I>V | No |
ClinGen Ensembl |
|
|
CA7624050 rs777224813 |
311 | F>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000591643 CA392937558 rs1361965478 |
313 | L>F | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs866255519 CA271675767 |
317 | I>M | No |
ClinGen Ensembl |
|
|
CA392937585 rs1567026626 |
317 | I>V | No |
ClinGen Ensembl |
|
|
rs1301109791 CA392938139 |
323 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1301109791 CA392938135 |
323 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7624069 rs762436311 RCV001290543 |
324 | K>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1390948337 CA392938188 |
327 | S>G | No |
ClinGen gnomAD |
|
|
rs1315812979 CA392938203 |
328 | G>R | No |
ClinGen gnomAD |
|
|
CA392938262 rs1316044036 RCV000519423 |
332 | L>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs749645202 CA271677590 |
333 | E>Q | No |
ClinGen Ensembl |
|
|
CA7624074 rs751840710 |
334 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7624076 rs767650713 |
336 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7624075 rs754765552 COSM1644233 |
336 | D>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA271677618 rs991206212 |
338 | V>L | No |
ClinGen TOPMed |
|
|
CA271677642 rs184970289 |
340 | K>T | No |
ClinGen 1000Genomes |
|
|
CA392938383 rs1479446795 |
341 | C>S | No |
ClinGen gnomAD |
|
|
CA392938482 rs1595888741 |
344 | K>E | No |
ClinGen Ensembl |
|
|
rs760766158 CA7624096 |
345 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1177367316 CA392938539 |
349 | R>S | No |
ClinGen gnomAD |
|
|
rs1408378561 CA392938537 |
349 | R>T | No |
ClinGen TOPMed |
|
|
CA392938549 rs1408394465 |
350 | A>G | No |
ClinGen gnomAD |
|
|
rs373210982 CA7624100 |
351 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373210982 CA7624099 |
351 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1346378801 CA392938590 |
353 | K>R | No |
ClinGen gnomAD |
|
|
CA7624101 rs750035241 |
354 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471568699 CA392938631 |
356 | M>T | No |
ClinGen TOPMed |
|
|
CA16042968 rs1009731985 |
356 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7624162 rs558326525 |
357 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392938769 rs558326525 |
357 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392938780 rs1595889532 |
358 | H>Y | No |
ClinGen Ensembl |
|
|
CA271679145 rs941943240 |
361 | I>M | No |
ClinGen Ensembl |
|
|
CA392938846 rs1414843735 |
362 | K>N | No |
ClinGen TOPMed |
|
|
CA392938855 rs1423712737 |
363 | R>T | No |
ClinGen gnomAD |
|
|
rs770847542 CA7624164 |
367 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs759243614 CA7624166 |
370 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs752538915 CA271679243 |
375 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752538915 CA7624168 |
375 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371140798 CA10646486 |
377 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA392939054 rs1259211606 |
378 | T>I | No |
ClinGen TOPMed |
|
|
CA7624169 rs373794940 |
379 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA271679284 rs28730804 |
380 | G>D | No |
ClinGen Ensembl |
|
|
CA7624170 rs750934083 |
380 | G>S | No |
ClinGen ExAC gnomAD |
|
|
COSM235617 rs1057519735 CA16602459 |
382 | N>H | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1199306921 CA392939138 |
385 | S>R | No |
ClinGen TOPMed |
|
|
rs780370635 CA7624172 |
388 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs730880500 CA296103 |
390 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269249292 CA392939202 |
390 | A>V | No |
ClinGen TOPMed |
|
|
rs896594939 CA16043019 |
391 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs200442489 CA7624175 |
393 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392939240 rs1206177627 |
394 | V>Q | No |
ClinGen gnomAD |
|
|
CA7624176 rs756208132 |
394 | V>S | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q02750
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.12.2 | Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR47448 | DUAL SPECIFICITY MITOGEN-ACTIVATED PROTEIN KINASE KINASE DSOR1-LIKE PROTEIN |
| PANTHER Subfamily | PTHR47448:SF2 | MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1 |
| PANTHER Protein Class | non-receptor serine/threonine protein kinase | |
| PANTHER Pathway Category | No pathway information available | |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
13 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| MAP kinase kinase activity | Catalysis of the concomitant phosphorylation of threonine (T) and tyrosine (Y) residues in a Thr-Glu-Tyr (TEY) thiolester sequence in a MAP kinase (MAPK) substrate. |
| MAP-kinase scaffold activity | The binding activity of a molecule that functions as a physical support for the assembly of a multiprotein mitogen-activated protein kinase (MAPK) complex. Binds multiple kinases of the MAPKKK cascade, and also upstream signaling proteins, permitting those molecules to function in a coordinated way. Bringing together multiple enzymes and their substrates enables the signal to be transduced quickly and efficiently. |
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein kinase activator activity | Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein N-terminus binding | Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activator activity | Binds to and increases the activity of a protein serine/threonine kinase. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
| protein tyrosine kinase activity | Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
| scaffold protein binding | Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes. |
30 GO annotations of biological process
| Name | Definition |
|---|---|
| Bergmann glial cell differentiation | The process in which neuroepithelial cells of the neural tube give rise to Brgmann glial cells, specialized bipotential progenitors cells of the cerebellum. Differentiation includes the processes involved in commitment of a cell to a specific fate. |
| cell motility | Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. |
| cellular senescence | A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest. |
| cerebellar cortex formation | The process that gives rise to the cerebellar cortex. This process pertains to the initial formation of a structure from unspecified parts. The cerebellar cortex is a thin mantle of gray matter that covers the surface of each cerebral hemisphere. It has a characteristic morphology with convolutions (gyri) and crevices (sulci) that have specific functions. Six layers of nerve cells and the nerve pathways that connect them comprise the cerebellar cortex. Together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function. |
| chemotaxis | The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). |
| epithelial cell proliferation involved in lung morphogenesis | The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population that contributes to the shaping of the lung. |
| ERK1 and ERK2 cascade | An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| face development | The biological process whose specific outcome is the progression of a face from an initial condition to its mature state. The face is the ventral division of the head. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| keratinocyte differentiation | The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte. |
| labyrinthine layer development | The process in which the labyrinthine layer of the placenta progresses, from its formation to its mature state. |
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| placenta blood vessel development | The process whose specific outcome is the progression of a blood vessel of the placenta over time, from its formation to the mature structure. |
| positive regulation of axonogenesis | Any process that activates or increases the frequency, rate or extent of axonogenesis. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of production of miRNAs involved in gene silencing by miRNA | Any process that activates or increases the frequency, rate or extent of maturation of miRNAs. |
| positive regulation of protein serine/threonine kinase activity | Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity. |
| positive regulation of transcription, DNA-templated | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of axon regeneration | Any process that modulates the frequency, rate or extent of axon regeneration. |
| regulation of early endosome to late endosome transport | Any process that modulates the frequency, rate or extent of early endosome to late endosome transport. |
| regulation of Golgi inheritance | Any process that modulates the rate, frequency or extent of Golgi inheritance. Golgi inheritance is the partitioning of Golgi apparatus between daughter cells at cell division. |
| regulation of stress-activated MAPK cascade | Any process that modulates the frequency, rate or extent of signal transduction mediated by the stress-activated MAPK cascade. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| thymus development | The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components. |
| thyroid gland development | The process whose specific outcome is the progression of the thyroid gland over time, from its formation to the mature structure. The thyroid gland is an endoderm-derived gland that produces thyroid hormone. |
| trachea formation | The process pertaining to the initial formation of a trachea from unspecified parts. The process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the trachea is recognizable. The trachea is the portion of the airway that attaches to the bronchi as it branches. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32491 | MKK2 | MAP kinase kinase MKK2/SSP33 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P32490 | MKK1 | MAP kinase kinase MKK1/SSP32 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q90891 | MAP2K2 | Dual specificity mitogen-activated protein kinase kinase 2 | Gallus gallus (Chicken) | PR |
| Q9XT09 | MAP2K1 | Dual specificity mitogen-activated protein kinase kinase 1 | Pan troglodytes (Chimpanzee) | PR |
| Q24324 | Dsor1 | Dual specificity mitogen-activated protein kinase kinase dSOR1 | Drosophila melanogaster (Fruit fly) | PR |
| O14733 | MAP2K7 | Dual specificity mitogen-activated protein kinase kinase 7 | Homo sapiens (Human) | PR |
| P52564 | MAP2K6 | Dual specificity mitogen-activated protein kinase kinase 6 | Homo sapiens (Human) | EV |
| P46734 | MAP2K3 | Dual specificity mitogen-activated protein kinase kinase 3 | Homo sapiens (Human) | SS |
| P45985 | MAP2K4 | Dual specificity mitogen-activated protein kinase kinase 4 | Homo sapiens (Human) | EV |
| Q13163 | MAP2K5 | Dual specificity mitogen-activated protein kinase kinase 5 | Homo sapiens (Human) | PR |
| P36507 | MAP2K2 | Dual specificity mitogen-activated protein kinase kinase 2 | Homo sapiens (Human) | EV |
| Q9WVS7 | Map2k5 | Dual specificity mitogen-activated protein kinase kinase 5 | Mus musculus (Mouse) | PR |
| Q63932 | Map2k2 | Dual specificity mitogen-activated protein kinase kinase 2 | Mus musculus (Mouse) | PR |
| P31938 | Map2k1 | Dual specificity mitogen-activated protein kinase kinase 1 | Mus musculus (Mouse) | PR |
| Q62862 | Map2k5 | Dual specificity mitogen-activated protein kinase kinase 5 | Rattus norvegicus (Rat) | PR |
| P36506 | Map2k2 | Dual specificity mitogen-activated protein kinase kinase 2 | Rattus norvegicus (Rat) | SS |
| Q01986 | Map2k1 | Dual specificity mitogen-activated protein kinase kinase 1 | Rattus norvegicus (Rat) | PR |
| Q5QN75 | MKK1 | Mitogen-activated protein kinase kinase 1 | Oryza sativa subsp japonica (Rice) | PR |
| Q10664 | mek-2 | Dual specificity mitogen-activated protein kinase kinase mek-2 | Caenorhabditis elegans | PR |
| Q9FJV0 | MKK6 | Mitogen-activated protein kinase kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9S7U9 | MKK2 | Mitogen-activated protein kinase kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q94A06 | MKK1 | Mitogen-activated protein kinase kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPKKKPTPIQ | LNPAPDGSAV | NGTSSAETNL | EALQKKLEEL | ELDEQQRKRL | EAFLTQKQKV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GELKDDDFEK | ISELGAGNGG | VVFKVSHKPS | GLVMARKLIH | LEIKPAIRNQ | IIRELQVLHE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CNSPYIVGFY | GAFYSDGEIS | ICMEHMDGGS | LDQVLKKAGR | IPEQILGKVS | IAVIKGLTYL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| REKHKIMHRD | VKPSNILVNS | RGEIKLCDFG | VSGQLIDSMA | NSFVGTRSYM | SPERLQGTHY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SVQSDIWSMG | LSLVEMAVGR | YPIPPPDAKE | LELMFGCQVE | GDAAETPPRP | RTPGRPLSSY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GMDSRPPMAI | FELLDYIVNE | PPPKLPSGVF | SLEFQDFVNK | CLIKNPAERA | DLKQLMVHAF |
| 370 | 380 | 390 | |||
| IKRSDAEEVD | FAGWLCSTIG | LNQPSTPTHA | AGV |