Q13976
EV
Gene name |
PRKG1 (PRKG1B, PRKGR1A, PRKGR1B) |
Protein name |
cGMP-dependent protein kinase 1 |
Names |
cGK 1, cGK1, cGMP-dependent protein kinase I, cGKI |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5592 |
EC number |
2.7.11.12: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
PKG is a major intracellular receptor of cGMP and modulates diverse cellular signalings. The activity of PKG1B is regulated by its N-terminal regulatory (R) domain, which includes a leucine zipper (LZ) domain, a linker region with an autoinhibitory (AI) sequence, and two cyclic nucleotide-binding (CNB-A and -B) domains. In the autoinhibition of PKG1B, the AI sequence from R domain binds to the catalytic cleft of the C domain, blocking substrate access and inhibiting the enzymatic activity. This autoinhibition is alleviated by the binding of cyclic guanosine monophosphate (cGMP) to the CNB domains, which destabilizes the autoinhibited state and allows the active kinase to phosphorylate downstream substrate.
Autoinhibitory domains (AIDs)
Target domain |
355-686 (C-terminal catalytic domain) |
Relief mechanism |
Ligand binding |
Assay |
Structural analysis, Peptide inhibitor test, Mutagenesis experiment, Deletion assay |
Accessory elements
501-523 (Activation loop from InterPro)
Target domain |
360-619 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
27 structures for Q13976
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1ZXA | NMR | - | A/B | 2-59 | PDB |
| 3NMD | X-ray | 227 A | A/B/C/D/E | 4-47 | PDB |
| 3OCP | X-ray | 249 A | A/B | 84-212 | PDB |
| 3OD0 | X-ray | 290 A | A/B | 84-212 | PDB |
| 3OGJ | X-ray | 275 A | A/B/C/D | 84-212 | PDB |
| 4KU7 | X-ray | 165 A | A | 204-354 | PDB |
| 4KU8 | X-ray | 199 A | A/B/C | 204-354 | PDB |
| 4QX5 | X-ray | 132 A | A | 204-354 | PDB |
| 4QXK | Other | 220 A | A | 204-354 | PDB |
| 4R4L | X-ray | 225 A | A/B/C | 2-48 | PDB |
| 4R4M | X-ray | 192 A | A/B/C | 2-48 | PDB |
| 4Z07 | X-ray | 250 A | A/C/E | 84-336 | PDB |
| 5J48 | X-ray | 149 A | A/B | 204-336 | PDB |
| 5JAX | X-ray | 149 A | A | 204-336 | PDB |
| 5JD7 | X-ray | 175 A | A | 204-336 | PDB |
| 5L0N | X-ray | 128 A | A | 204-336 | PDB |
| 6BDL | X-ray | 196 A | A/B | 327-671 | PDB |
| 6BG2 | X-ray | 183 A | A/B/C/D | 327-671 | PDB |
| 6C0T | X-ray | 198 A | A | 327-671 | PDB |
| 7LV3 | X-ray | 241 A | A/B | 56-671 | PDB |
| 7MBJ | X-ray | 126 A | A/B | 79-212 | PDB |
| 7SSB | X-ray | 140 A | A | 78-328 | PDB |
| 7T4T | X-ray | 208 A | A/B | 204-671 | PDB |
| 7T4U | X-ray | 199 A | A/B | 204-671 | PDB |
| 7T4V | X-ray | 228 A | A/B | 204-671 | PDB |
| 7T4W | X-ray | 223 A | A/B | 204-671 | PDB |
| AF-Q13976-F1 | Predicted | AlphaFoldDB |
352 variants for Q13976
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA376827227 rs1368918637 RCV000680602 |
90 | S>F | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000535981 rs751916382 CA5503113 |
92 | D>H | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000660231 RCV000512679 CA5503120 rs771121101 |
115 | I>T | Connective tissue disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA5503121 rs140871298 RCV000620857 RCV000550867 RCV000521086 |
117 | D>G | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1157867791 CA376827504 RCV000699362 |
121 | P>L | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000524770 rs761759814 CA5503124 RCV000620356 |
126 | K>Q | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000655073 rs775427696 CA5503127 |
135 | D>A | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5503130 RCV000704264 rs774143507 |
142 | V>A | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397515330 RCV000248773 RCV000494178 RCV000055667 VAR_070434 CA144806 |
177 | R>Q | Aortic aneurysm, familial thoracic 8 AAT8; impairs cGMP binding; the mutant protein is constitutively active [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs777385159 COSM121001 RCV000689410 CA5503180 |
181 | V>I | Aortic aneurysm, familial thoracic 8 upper_aerodigestive_tract [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs56082459 RCV000618997 CA5503623 VAR_046773 RCV001243447 RCV000585604 |
249 | I>V | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000538667 rs1554797637 CA376533909 |
259 | F>L | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM918850 CA5503627 RCV000803107 rs376134488 |
265 | T>M | Aortic aneurysm, familial thoracic 8 endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs34997494 RCV000426670 RCV000473146 RCV000619922 VAR_051632 CA5503645 |
267 | N>S | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs140716870 RCV000619600 RCV000553604 CA5503657 |
283 | T>I | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000698927 CA376534160 rs1564452654 |
295 | L>F | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs775720873 CA5503732 RCV000655071 |
324 | L>S | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA376534577 RCV000693123 rs1564496116 |
340 | E>D | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000208192 CA351841 rs869025500 |
344 | K>R | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001760012 rs755634503 RCV001059083 CA5503763 |
353 | A>T | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5503796 RCV000472610 rs377519440 |
395 | R>C | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16609693 rs267602521 RCV000458946 |
455 | S>L | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA079570 rs140630065 RCV000208346 |
460 | T>A | Familial thoracic aortic aneurysm and aortic dissection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000473353 rs149710600 CA5503866 |
474 | Y>C | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA205029 rs149710600 VAR_070435 RCV000245336 RCV000191955 |
474 | Y>F | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5503896 rs74905373 RCV000558406 |
511 | F>L | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000464521 CA16613105 rs1060501403 |
518 | F>S | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001756011 RCV000618234 CA5503955 RCV001868129 rs201720423 |
608 | N>Y | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs770812712 CA5503974 RCV000655074 RCV000619556 |
628 | R>K | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA376536663 rs1554824353 RCV000655075 |
631 | T>I | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000519832 CA5504008 rs766915028 RCV001339090 |
648 | N>S | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1702399 COSM1702400 RCV000525690 CA5504011 rs142375882 |
657 | D>N | Aortic aneurysm, familial thoracic 8 skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000191954 CA205027 RCV000522819 rs750949508 VAR_070436 |
666 | G>A | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1564549596 CA376536927 RCV000692162 |
668 | D>V | Aortic aneurysm, familial thoracic 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA376825358 rs1234312117 |
3 | E>Q | No |
ClinGen gnomAD |
|
|
CA207058029 rs1025225046 |
4 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1025225046 CA376825368 |
4 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5502988 rs200844105 |
5 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749057103 CA5502989 |
5 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756992967 CA5502990 |
6 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756992967 CA376825381 |
6 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376397116 CA376825383 |
7 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376397116 CA5502991 |
7 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5502992 rs745772695 |
11 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs202017913 CA346591 |
13 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376825427 rs1197775380 |
13 | M>T | No |
ClinGen gnomAD |
|
|
rs1488048945 CA376825424 |
13 | M>V | No |
ClinGen gnomAD |
|
|
CA5502995 rs763460888 |
14 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158758049 CA376825433 |
14 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5502996 rs776134753 |
16 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA376825457 rs773757054 |
17 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5502998 rs765486540 |
17 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA376825451 rs1295204783 |
17 | E>K | No |
ClinGen gnomAD |
|
|
rs1226942029 CA376825466 |
19 | I>V | No |
ClinGen TOPMed |
|
|
rs1480756312 CA376825514 |
25 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1055837832 CA207058032 |
28 | E>G | No |
ClinGen Ensembl |
|
|
CA376825527 rs1242528708 |
28 | E>Q | No |
ClinGen gnomAD |
|
|
rs1353068439 CA376825549 |
31 | E>K | No |
ClinGen gnomAD |
|
|
CA5503001 rs766478650 |
33 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1237616278 CA376825570 |
33 | I>T | No |
ClinGen gnomAD |
|
|
rs372471361 CA207058033 |
35 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA376825587 rs1456395762 |
36 | L>V | No |
ClinGen TOPMed |
|
|
rs751572252 CA5503002 |
44 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458818322 CA376825653 |
45 | S>A | No |
ClinGen gnomAD |
|
|
CA376825654 rs1178803378 |
45 | S>L | No |
ClinGen gnomAD |
|
|
CA376825675 rs1416776423 |
49 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1166877299 CA376825686 |
50 | P>L | No |
ClinGen gnomAD |
|
|
rs377518710 CA5503006 |
53 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5503007 rs778832051 |
54 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA376825711 rs1187046446 |
54 | I>M | No |
ClinGen TOPMed |
|
|
rs745828304 CA5503008 |
55 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs779720584 CA5503010 |
56 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376825725 rs1233139477 |
57 | R>Q | No |
ClinGen gnomAD |
|
|
rs1320431652 CA376825744 |
61 | A>T | No |
ClinGen gnomAD |
|
|
rs1219900241 CA376825793 |
68 | P>S | No |
ClinGen TOPMed |
|
|
CA376825799 rs1183115870 |
69 | Q>* | No |
ClinGen gnomAD |
|
|
rs568266579 CA5503017 |
70 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5503016 rs568266579 |
70 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547853614 CA5503020 |
72 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs913902591 CA376825851 |
75 | H>Q | No |
ClinGen TOPMed |
|
|
rs913902591 CA207058038 |
75 | H>Q | No |
ClinGen TOPMed |
|
|
rs1171722167 CA376825844 |
75 | H>R | No |
ClinGen gnomAD |
|
|
rs1294805851 CA376825837 |
75 | H>Y | No |
ClinGen TOPMed |
|
|
CA376825855 rs1294905377 |
76 | D>H | No |
ClinGen TOPMed |
|
|
rs1456003675 CA376825877 |
77 | L>R | No |
ClinGen TOPMed |
|
|
rs1460624484 CA376825879 |
78 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA376825880 rs1304664992 |
78 | R>Q | No |
ClinGen gnomAD |
|
|
rs376168032 CA5503023 |
79 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1451290579 CA376825894 |
80 | A>T | No |
ClinGen TOPMed |
|
|
rs760764808 CA5503024 |
80 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1589093332 CA376825906 |
81 | F>L | No |
ClinGen Ensembl |
|
|
rs1342817774 CA376825931 |
82 | R>Q | No |
ClinGen gnomAD |
|
|
rs1219608236 CA376825936 |
83 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs570985734 CA207058039 |
85 | T>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1305435939 CA376825982 |
85 | T>I | No |
ClinGen gnomAD |
|
|
rs556636255 CA5503026 |
87 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376827248 rs1307728986 |
92 | D>G | No |
ClinGen gnomAD |
|
|
CA376827243 rs751916382 |
92 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1307728986 CA376827247 |
92 | D>V | No |
ClinGen gnomAD |
|
|
rs1308723236 CA376827259 |
93 | L>F | No |
ClinGen TOPMed |
|
|
RCV000617255 rs1554841032 CA376827316 |
98 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA207075926 rs183697950 |
99 | L>I | No |
ClinGen 1000Genomes |
|
|
CA376827401 rs1379572247 |
106 | N>K | No |
ClinGen TOPMed |
|
|
rs781781854 CA5503115 |
108 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA376827410 rs1445598211 |
108 | E>Q | No |
ClinGen gnomAD |
|
|
rs753226606 CA5503116 |
110 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1012939030 CA207075928 |
114 | E>D | No |
ClinGen TOPMed |
|
|
CA376827456 rs1564619738 |
115 | I>L | No |
ClinGen Ensembl |
|
|
rs1564619743 CA376827462 |
116 | V>M | No |
ClinGen Ensembl |
|
|
rs1420926342 CA376827477 |
118 | C>R | No |
ClinGen TOPMed |
|
|
CA207075929 rs965471142 |
120 | Y>* | No |
ClinGen Ensembl |
|
|
CA5503123 rs776595546 |
123 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA207075930 rs756880647 |
124 | Y>C | No |
ClinGen Ensembl |
|
|
CA376827558 rs1474737976 |
129 | C>S | No |
ClinGen gnomAD |
|
|
CA376827573 rs1164538129 |
131 | I>T | No |
ClinGen gnomAD |
|
|
CA207075931 rs368286950 |
135 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487309461 CA376827623 |
139 | L>V | No |
ClinGen TOPMed |
|
|
CA5503132 RCV000478849 rs767973721 |
143 | M>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1291778251 CA376827654 |
144 | E>K | No |
ClinGen gnomAD |
|
|
rs770589870 CA5503165 |
145 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs568518088 CA5503167 |
153 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376529095 rs1422839176 |
154 | G>S | No |
ClinGen TOPMed |
|
|
rs991136196 CA207240000 |
163 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA376529171 rs1406292952 |
165 | V>A | No |
ClinGen gnomAD |
|
|
RCV000523055 CA5503169 rs141293448 |
166 | F>S | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
RCV000497851 CA376529202 rs1554812434 |
170 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5503173 rs762265014 |
171 | I>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000520510 CA376529238 rs1554812441 |
175 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5503177 rs202137835 |
178 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM171807 CA376529282 rs1275290492 |
182 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs772491216 CA5503555 |
183 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5503556 rs775968324 |
188 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937723836 CA207346851 |
192 | I>T | No |
ClinGen TOPMed |
|
|
CA376530834 rs1235083176 |
192 | I>V | No |
ClinGen gnomAD |
|
|
CA5503557 rs760798881 |
193 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5503558 rs764100007 |
198 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1466670458 CA376530926 |
200 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA376530965 rs1189748351 |
202 | M>I | No |
ClinGen gnomAD |
|
|
rs754799133 CA376531056 |
211 | E>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1505304 COSM1505305 rs754799133 CA5503563 |
211 | E>G | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs751351827 RCV000244601 CA5503562 |
211 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA376531079 rs1468952215 |
213 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs752625931 CA5503565 |
216 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs755688639 CA5503566 |
218 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs368571406 CA5503592 |
219 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368571406 CA5503591 |
219 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1490296200 CA376533509 |
221 | T>A | No |
ClinGen gnomAD |
|
|
rs987666890 CA207358554 |
223 | Q>E | No |
ClinGen Ensembl |
|
|
rs1220674119 CA376533528 |
223 | Q>H | No |
ClinGen gnomAD |
|
|
rs1253529851 CA376533536 |
224 | S>R | No |
ClinGen gnomAD |
|
|
CA376533565 rs1285865587 |
229 | I>F | No |
ClinGen TOPMed |
|
|
CA5503595 rs769855764 |
229 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1405161119 CA376533573 |
230 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5503596 rs773312689 |
230 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA376533572 rs1405161119 |
230 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1364842466 CA376533579 |
231 | S>N | No |
ClinGen gnomAD |
|
|
CA5503598 rs772012837 |
234 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs749355908 CA5503619 |
240 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA376533791 rs1270451966 |
241 | H>R | No |
ClinGen gnomAD |
|
|
rs771317864 CA5503620 |
242 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1203813588 CA376533804 |
243 | E>G | No |
ClinGen gnomAD |
|
|
CA207375925 rs267602520 |
243 | E>K | No |
ClinGen Ensembl |
|
|
rs368465530 CA376533817 |
245 | G>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368465530 CA207375926 |
245 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs754729841 CA207375927 |
247 | Y>H | No |
ClinGen Ensembl |
|
|
CA5503622 rs760603835 |
248 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1334537263 CA376533851 |
250 | R>T | No |
ClinGen TOPMed |
|
|
rs747670757 CA5503624 |
252 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564449270 CA376533871 |
253 | A>E | No |
ClinGen Ensembl |
|
|
CA207375928 rs918979248 |
256 | D>E | No |
ClinGen Ensembl |
|
|
rs1243480113 CA376533887 |
256 | D>N | No |
ClinGen gnomAD |
|
|
rs1285746460 CA376533906 |
258 | F>L | No |
ClinGen gnomAD |
|
|
CA5503626 rs765064784 |
260 | I>F | No |
ClinGen ExAC gnomAD |
|
|
COSM108620 CA207376747 rs142586643 |
267 | N>Y | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA207376748 rs1054061959 |
268 | V>A | No |
ClinGen TOPMed |
|
|
CA5503646 rs765812630 |
270 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000618282 rs549568221 COSM2146567 COSM2146566 CA5503647 |
274 | P>L | breast [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA376534021 rs549568221 |
274 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5503648 rs549568221 |
274 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5503651 rs756427024 |
275 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766091359 CA207376750 |
276 | E>K | No |
ClinGen Ensembl |
|
|
CA5503653 rs764715643 |
277 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA376534036 rs1349953914 |
277 | D>N | No |
ClinGen gnomAD |
|
|
CA376534044 rs1291825799 |
278 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1410357610 CA376534048 |
278 | P>R | No |
ClinGen TOPMed |
|
|
CA376534045 rs1291825799 |
278 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5503655 rs757416473 |
279 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA5503654 rs757416473 |
279 | V>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1348167 COSM1348168 CA376534075 rs1310793191 |
283 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA5503659 rs748034833 |
285 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5503658 rs780135823 |
285 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1564452634 CA376534110 |
288 | D>E | No |
ClinGen Ensembl |
|
|
rs773141618 CA5503661 |
288 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5503662 rs552050951 |
289 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773898126 CA5503664 |
294 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA376534153 rs773898126 |
294 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs746504074 CA5503703 |
302 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA5503704 RCV000618111 rs768491086 |
305 | V>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA376534327 rs768491086 |
305 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5503705 rs776411009 |
306 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376534372 rs138485549 |
312 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5503707 COSM1474656 COSM1474655 RCV000618638 rs138485549 |
312 | T>N | breast [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs762282418 CA5503706 |
312 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs138485549 CA207385030 |
312 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773803945 CA5503708 |
313 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs773803945 CA376534373 |
313 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA207385031 rs112529278 |
315 | V>A | No |
ClinGen Ensembl |
|
|
CA376534443 rs1589661577 |
321 | F>S | No |
ClinGen Ensembl |
|
|
rs902336329 CA207388056 |
329 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA207388057 rs762516088 |
330 | D>G | No |
ClinGen Ensembl |
|
|
CA376534507 rs1453667439 |
331 | V>I | No |
ClinGen TOPMed |
|
|
CA376534520 rs1255563416 |
333 | N>D | No |
ClinGen gnomAD |
|
|
rs1184153688 CA376534525 |
333 | N>K | No |
ClinGen gnomAD |
|
|
CA376534522 rs1462632400 |
333 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA376534540 rs1242409005 |
335 | A>V | No |
ClinGen gnomAD |
|
|
rs1554811684 CA376534555 |
337 | E>D | No |
ClinGen Ensembl |
|
|
CA376534561 rs1187984310 |
338 | D>V | No |
ClinGen gnomAD |
|
|
rs1589661648 CA376534567 |
339 | A>S | No |
ClinGen Ensembl |
|
|
rs144345072 CA5503736 |
341 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754567668 CA5503739 |
343 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398177153 CA376534592 |
343 | A>T | No |
ClinGen gnomAD |
|
|
rs756379406 CA207397651 |
345 | Y>D | No |
ClinGen Ensembl |
|
|
CA376534630 rs1346939466 |
346 | E>D | No |
ClinGen gnomAD |
|
|
rs768826890 CA5503755 |
347 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768826890 CA5503756 |
347 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762661667 CA5503757 |
348 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5503758 rs766158164 |
349 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs369811301 COSM3382915 CA5503759 COSM3382916 |
349 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1483976150 CA376534650 |
350 | A>D | No |
ClinGen TOPMed |
|
|
rs1342455695 CA376534671 |
353 | A>D | No |
ClinGen TOPMed |
|
|
RCV000519794 RCV000618578 rs775372704 CA207397652 |
354 | N>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs868326823 CA207397654 |
358 | S>F | No |
ClinGen Ensembl |
|
|
CA376534707 rs1200316305 |
359 | D>A | No |
ClinGen gnomAD |
|
|
CA376534739 rs1377115108 |
363 | I>T | No |
ClinGen gnomAD |
|
|
CA376534762 RCV000521541 rs1554821529 |
367 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA376534780 rs1383293446 |
370 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA376534794 rs1160829232 |
372 | G>R | No |
ClinGen gnomAD |
|
|
CA376534804 rs1459382080 |
373 | R>L | No |
ClinGen gnomAD |
|
|
CA207397655 rs572399173 |
374 | V>A | No |
ClinGen gnomAD |
|
|
rs542353515 CA5503767 |
376 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1589749615 CA376535161 |
377 | V>A | No |
ClinGen Ensembl |
|
|
CA376535157 rs1194004965 |
377 | V>I | No |
ClinGen TOPMed |
|
|
rs929692657 CA207399789 COSM1146446 COSM685017 |
378 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs770212084 CA5503793 |
381 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1457747745 CA376535195 |
382 | E>G | No |
ClinGen gnomAD |
|
|
CA5503794 rs773557548 |
382 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1445625014 CA376535283 |
394 | K>R | No |
ClinGen gnomAD |
|
|
rs201147665 RCV000619909 CA5503797 |
395 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1398945333 CA376535325 |
400 | T>R | No |
ClinGen gnomAD |
|
|
CA376535348 rs1463567780 |
403 | Q>H | No |
ClinGen gnomAD |
|
|
rs1202969138 CA376535359 |
405 | H>Y | No |
ClinGen TOPMed |
|
|
RCV000512987 rs147351459 CA5503799 |
407 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA376535373 rs147351459 |
407 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA207399792 rs868012535 |
410 | K>T | No |
ClinGen Ensembl |
|
|
CA5503800 rs776244797 |
411 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5503804 rs371044753 |
419 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376535466 rs1317408949 |
420 | F>S | No |
ClinGen gnomAD |
|
|
rs755553234 CA5503807 |
421 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs375281027 CA5503806 |
421 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766680993 CA5503805 |
421 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA376535512 rs1589750418 |
425 | Y>H | No |
ClinGen Ensembl |
|
|
CA376535541 rs1398352558 |
427 | T>A | No |
ClinGen gnomAD |
|
|
rs1230129576 COSM3981031 COSM3981030 CA376535595 |
430 | D>E | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1368429980 CA376535609 |
431 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5503833 rs778996658 |
431 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs11001408 CA207399883 |
437 | L>M | No |
ClinGen Ensembl |
|
|
rs746880069 CA5503834 |
439 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5503837 rs748029577 |
446 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1008442154 CA207399884 |
449 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5503838 rs769699800 |
452 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs531873371 CA5503856 |
454 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376534877 rs1208403855 |
459 | S>C | No |
ClinGen TOPMed |
|
|
CA5503859 rs770284504 |
459 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5503860 rs759058266 |
461 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357311860 CA376534916 |
465 | T>I | No |
ClinGen Ensembl |
|
|
rs781293867 CA5503864 |
469 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA376534947 rs1285153595 |
470 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs923025018 CA207400753 |
470 | E>G | No |
ClinGen Ensembl |
|
|
rs1378044801 CA376534951 |
471 | A>S | No |
ClinGen gnomAD |
|
|
rs1378044801 CA376534949 |
471 | A>T | No |
ClinGen gnomAD |
|
|
rs201693342 CA5503865 |
472 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA207400754 rs78669561 |
484 | D>A | No |
ClinGen Ensembl |
|
|
rs74484055 CA207400755 |
484 | D>E | No |
ClinGen Ensembl |
|
|
CA207400756 rs78350819 |
485 | L>I | No |
ClinGen Ensembl |
|
|
CA5503869 rs376854572 |
487 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA918674643 rs1589756240 |
489 | N>M | No |
ClinGen Ensembl |
|
|
rs562013193 CA5503870 |
493 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376535107 rs777696864 |
494 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000619026 rs139646798 CA5503871 RCV000612821 COSM99003 |
494 | H>Y | stomach [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000757687 CA376535108 rs1564544146 |
495 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs749187374 CA5503873 |
495 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778332051 CA376535141 |
500 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753605325 CA5503894 |
501 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1342770514 CA376535629 |
509 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5503895 rs757178752 |
510 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA376535693 rs1354751954 |
513 | K>M | No |
ClinGen gnomAD |
|
|
rs1396556540 CA376535817 |
522 | P>T | No |
ClinGen TOPMed |
|
|
rs1416687037 CA376535886 |
526 | A>D | No |
ClinGen TOPMed |
|
|
rs756192634 CA5503902 |
537 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748543896 CA207400893 |
539 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748543896 CA5503903 RCV000617297 |
539 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5503905 rs773713867 |
540 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1329313587 CA376536020 |
544 | L>P | No |
ClinGen gnomAD |
|
|
rs1192112763 CA376536056 |
549 | Y>* | No |
ClinGen TOPMed |
|
|
rs774582033 CA5503908 |
553 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1375920954 CA376536084 |
554 | G>D | No |
ClinGen gnomAD |
|
|
CA376536113 rs1589761666 |
557 | P>T | No |
ClinGen Ensembl |
|
|
rs759603333 CA5503927 |
558 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA376536123 rs759603333 |
558 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA376536140 rs1482011029 |
561 | P>A | No |
ClinGen gnomAD |
|
|
CA376536139 RCV000619723 rs1482011029 |
561 | P>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs772335964 CA5503928 |
562 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs557180308 CA207401558 |
564 | M>V | No |
ClinGen Ensembl |
|
|
CA207401559 rs866427575 |
566 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1186441262 CA376536202 |
570 | I>V | No |
ClinGen gnomAD |
|
|
rs750349497 CA5503934 |
583 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA5503936 rs766415814 |
583 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5503935 rs750349497 |
583 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA207401562 rs751174547 |
584 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs199639042 CA207401561 |
584 | A>P | No |
ClinGen 1000Genomes |
|
|
rs751174547 CA5503937 |
584 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1312713910 CA376536308 |
585 | K>R | No |
ClinGen TOPMed |
|
|
CA376536322 rs1304462981 |
587 | A>S | No |
ClinGen gnomAD |
|
|
rs886039042 CA10587701 RCV000241587 |
589 | N>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1433427586 CA376536411 |
598 | N>D | No |
ClinGen gnomAD |
|
|
CA5503954 rs766434108 |
599 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1428272946 RCV000621875 CA376536507 |
612 | D>Y | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs767007025 CA5503957 |
613 | I>V | No |
ClinGen ExAC |
|
|
RCV000620816 rs1554824244 CA376536538 |
616 | H>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs985916344 CA207401684 |
617 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA207401685 rs1045434410 |
625 | E>Q | No |
ClinGen Ensembl |
|
|
CA376536629 rs1223217675 |
626 | G>D | No |
ClinGen gnomAD |
|
|
CA16605644 rs1057524623 RCV000431214 |
631 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5503975 rs774454923 |
635 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5503976 rs759599450 |
639 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1279533955 CA376536734 |
640 | V>A | No |
ClinGen gnomAD |
|
|
rs761501836 CA5504004 |
641 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1162719510 CA376536744 |
642 | S>L | No |
ClinGen gnomAD |
|
|
CA5504007 rs370924713 |
646 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376536769 rs1185777219 |
646 | T>S | No |
ClinGen TOPMed |
|
|
CA376536875 rs1167875682 |
660 | P>L | No |
ClinGen gnomAD |
|
|
rs752789563 CA5504013 |
661 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA207402119 rs948811531 |
662 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA376536902 rs1322320716 |
664 | N>K | No |
ClinGen TOPMed |
|
|
rs370223766 CA5504014 |
666 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201962623 CA207402121 |
667 | W>L | No |
ClinGen TOPMed |
|
|
CA207402122 rs374752370 |
669 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
COSM1316966 COSM145814 CA5504017 rs780074700 |
669 | I>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA207402123 rs924887342 |
670 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1398800687 CA376536936 |
670 | D>H | No |
ClinGen gnomAD |
|
|
CA5504018 rs746874890 |
671 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA207402124 rs1037296321 |
671 | F>L | No |
ClinGen TOPMed |
No associated diseases with Q13976
8 regional properties for Q13976
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 247 - 501 | IPR000719 |
| domain | SH2 domain | 127 - 226 | IPR000980 |
| domain | SH3 domain | 63 - 123 | IPR001452 |
| active_site | Tyrosine-protein kinase, active site | 363 - 375 | IPR008266 |
| binding_site | Protein kinase, ATP binding site | 253 - 275 | IPR017441 |
| domain | Tyrosine-protein kinase, catalytic domain | 247 - 497 | IPR020635 |
| domain | Tyrosine-protein kinase Lyn, SH3 domain | 67 - 122 | IPR035748 |
| domain | Tyrosine-protein kinase Lyn, SH2 domain | 125 - 225 | IPR035852 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.12 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calcium channel regulator activity | Modulates the activity of a calcium channel. |
| cGMP binding | Binding to cGMP, the nucleotide cyclic GMP (guanosine 3',5'-cyclophosphate). |
| cGMP-dependent protein kinase activity | cGMP dependent catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein. |
| identical protein binding | Binding to an identical protein or proteins. |
| 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. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| cGMP-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via cyclic GMP (cGMP). Includes production of cGMP, and downstream effectors that further transmit the signal within the cell. |
| dendrite development | The process whose specific outcome is the progression of the dendrite over time, from its formation to the mature structure. |
| forebrain development | The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions). |
| negative regulation of platelet aggregation | Any process that decreases the rate, frequency or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules. |
| negative regulation of vascular associated smooth muscle cell migration | Any process that stops, prevents or reduces the frequency, rate or extent of vascular associated smooth muscle cell migration. |
| negative regulation of vascular associated smooth muscle cell proliferation | Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell proliferation. |
| neuron migration | The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
| relaxation of vascular associated smooth muscle | A negative regulation of smooth muscle contraction resulting in relaxation of vascular smooth muscle. The relaxation is mediated by a decrease in the phosphorylation state of myosin light chain. This can be achieved by removal of calcium from the cytoplasm to the sarcoplasmic reticulum lumen through the action of Ca2+ ATPases leading to a decrease myosin light chain kinase activity, and through calcium-independent pathways leading to a increase in myosin light chain phosphatase activity. |
| 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. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P00516 | PRKG1 | cGMP-dependent protein kinase 1 | Bos taurus (Bovine) | SS |
| Q03043 | for | cGMP-dependent protein kinase, isozyme 2 forms cD4/T1/T3A/T3B | Drosophila melanogaster (Fruit fly) | SS |
| P17612 | PRKACA | cAMP-dependent protein kinase catalytic subunit alpha | Homo sapiens (Human) | PR |
| Q13237 | PRKG2 | cGMP-dependent protein kinase 2 | Homo sapiens (Human) | PR |
| Q61410 | Prkg2 | cGMP-dependent protein kinase 2 | Mus musculus (Mouse) | PR |
| P0C605 | Prkg1 | cGMP-dependent protein kinase 1 | Mus musculus (Mouse) | SS |
| Q64595 | Prkg2 | cGMP-dependent protein kinase 2 | Rattus norvegicus (Rat) | PR |
| O76360 | egl-4 | cGMP-dependent protein kinase egl-4 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSELEEDFAK | ILMLKEERIK | ELEKRLSEKE | EEIQELKRKL | HKCQSVLPVP | STHIGPRTTR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AQGISAEPQT | YRSFHDLRQA | FRKFTKSERS | KDLIKEAILD | NDFMKNLELS | QIQEIVDCMY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PVEYGKDSCI | IKEGDVGSLV | YVMEDGKVEV | TKEGVKLCTM | GPGKVFGELA | ILYNCTRTAT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VKTLVNVKLW | AIDRQCFQTI | MMRTGLIKHT | EYMEFLKSVP | TFQSLPEEIL | SKLADVLEET |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HYENGEYIIR | QGARGDTFFI | ISKGTVNVTR | EDSPSEDPVF | LRTLGKGDWF | GEKALQGEDV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RTANVIAAEA | VTCLVIDRDS | FKHLIGGLDD | VSNKAYEDAE | AKAKYEAEAA | FFANLKLSDF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NIIDTLGVGG | FGRVELVQLK | SEESKTFAMK | ILKKRHIVDT | RQQEHIRSEK | QIMQGAHSDF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IVRLYRTFKD | SKYLYMLMEA | CLGGELWTIL | RDRGSFEDST | TRFYTACVVE | AFAYLHSKGI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IYRDLKPENL | ILDHRGYAKL | VDFGFAKKIG | FGKKTWTFCG | TPEYVAPEII | LNKGHDISAD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YWSLGILMYE | LLTGSPPFSG | PDPMKTYNII | LRGIDMIEFP | KKIAKNAANL | IKKLCRDNPS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ERLGNLKNGV | KDIQKHKWFE | GFNWEGLRKG | TLTPPIIPSV | ASPTDTSNFD | SFPEDNDEPP |
| 670 | |||||
| PDDNSGWDID | F |