Q96LR5
PR
Gene name |
UBE2E2 (UBCH8) |
Protein name |
Ubiquitin-conjugating enzyme E2 E2 |
Names |
E2 ubiquitin-conjugating enzyme E2, UbcH8, Ubiquitin carrier protein E2, Ubiquitin-protein ligase E2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7325 |
EC number |
2.3.2.23: Aminoacyltransferases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q96LR5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1Y6L | X-ray | 185 A | A/B/C | 55-201 | PDB |
| 6W9A | X-ray | 230 A | A/C | 30-201 | PDB |
| AF-Q96LR5-F1 | Predicted | AlphaFoldDB |
92 variants for Q96LR5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1322618421 CA351953604 |
2 | S>F | No |
ClinGen gnomAD |
|
|
rs1559439114 CA351953607 |
3 | T>A | No |
ClinGen Ensembl |
|
|
CA2285902 rs762813145 |
6 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA351953627 rs1319169551 |
6 | Q>P | No |
ClinGen TOPMed |
|
|
CA351953632 rs1456890354 |
7 | R>G | No |
ClinGen TOPMed |
|
|
CA2285903 rs765868713 |
8 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2285904 rs751150232 |
9 | D>N | No |
ClinGen ExAC |
|
|
rs1483729886 CA351953674 |
13 | S>G | No |
ClinGen gnomAD |
|
|
rs1167181698 CA351953708 |
18 | S>G | No |
ClinGen TOPMed |
|
|
rs1475853379 CA351953710 |
18 | S>N | No |
ClinGen TOPMed |
|
|
CA71643249 rs567659573 |
20 | D>Y | No |
ClinGen Ensembl |
|
|
CA351953731 rs1480523422 |
21 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756565750 CA71643258 |
22 | D>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1537701 rs749742193 CA351953753 |
24 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs749742193 CA2285910 |
24 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351953756 rs1344642863 |
25 | E>* | No |
ClinGen gnomAD |
|
|
rs1328734568 CA351953759 |
25 | E>D | No |
ClinGen gnomAD |
|
|
CA71643269 rs772113054 |
25 | E>G | No |
ClinGen Ensembl |
|
|
rs1575470715 CA351953761 |
26 | S>R | No |
ClinGen Ensembl |
|
|
CA351953768 rs757726179 |
26 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA351953776 rs1411725596 |
28 | Q>E | No |
ClinGen gnomAD |
|
|
CA351953800 rs200598867 |
31 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745985067 CA2285913 |
31 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2285912 rs200598867 |
31 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 32 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA71643281 rs369649279 |
33 | R>G | No |
ClinGen ESP TOPMed |
|
|
CA71643285 rs929515507 |
35 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs929515507 CA351953828 |
35 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA351953833 rs1057328100 |
36 | V>F | No |
ClinGen TOPMed |
|
|
rs1057328100 CA71643292 |
36 | V>I | No |
ClinGen TOPMed |
|
|
CA2285915 rs775757747 |
38 | P>H | No |
ClinGen ExAC |
|
|
rs769574664 CA2285917 |
39 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA351953903 rs1226423309 |
46 | S>P | No |
ClinGen TOPMed |
|
|
rs762910966 CA2285919 |
47 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA71643309 rs77514993 |
47 | S>R | No |
ClinGen Ensembl |
|
|
CA351953918 rs1363870749 |
48 | K>R | No |
ClinGen TOPMed |
|
|
rs767272117 CA2285923 |
50 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752327290 CA2285924 |
55 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA351953960 rs752327290 |
55 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA2285926 rs764469426 |
57 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1367069566 CA351954051 |
65 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 70 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277194506 CA351954093 |
71 | P>R | No |
ClinGen gnomAD |
|
|
CA351954100 rs1404110211 |
72 | P>R | No |
ClinGen Ensembl |
|
|
rs773546691 CA2285983 |
83 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1386551406 CA351954462 |
84 | I>V | No |
ClinGen TOPMed |
|
|
CA351954485 rs1482690802 |
87 | W>R | No |
ClinGen TOPMed |
|
|
CA2285987 rs370861104 |
89 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1217629712 CA351954526 |
93 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 95 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374583367 CA2285988 |
95 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351954565 rs764458474 |
99 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs764458474 CA2285991 |
99 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429833633 CA351954583 |
102 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 107 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA71792669 rs983961983 |
108 | I>M | No |
ClinGen TOPMed |
|
|
rs1228987738 CA351954626 |
108 | I>V | No |
ClinGen TOPMed |
|
|
CA351954636 rs1301289358 |
109 | T>I | No |
ClinGen TOPMed |
|
|
CA2285993 rs147600499 |
112 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1361031188 CA351954663 |
113 | D>E | No |
ClinGen gnomAD |
|
|
rs1394435542 CA351954756 |
124 | R>* | No |
ClinGen gnomAD |
|
|
rs1559413525 CA351954774 |
127 | I>V | No |
ClinGen Ensembl |
|
|
rs760893735 CA351954784 |
128 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760893735 CA2286008 |
128 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA71800545 rs991146519 |
129 | H>D | No |
ClinGen TOPMed |
|
|
rs764407261 CA2286010 |
134 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2286009 rs764407261 |
134 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs757522391 CA2286011 |
136 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 143 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351954938 rs1274790362 |
149 | P>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 152 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2286014 rs754851158 |
153 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA351955032 rs1255233852 |
164 | L>V | No |
ClinGen gnomAD |
|
|
CA351955044 rs1448256759 |
166 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 167 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367808407 CA71800559 |
168 | N>K | No |
ClinGen ESP TOPMed |
|
|
CA2286018 rs777282521 |
170 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA351955143 rs1340518299 |
178 | A>T | No |
ClinGen gnomAD |
|
|
rs1246617075 CA351955148 |
179 | T>A | No |
ClinGen gnomAD |
|
|
rs963033368 CA71810181 |
182 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2286034 rs756064005 |
186 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1575728257 CA351955204 |
187 | E>Q | No |
ClinGen Ensembl |
|
|
rs777221152 CA2286035 |
190 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1670008 CA71810182 rs890287293 |
190 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs867944416 CA71810183 |
192 | A>V | No |
ClinGen Ensembl |
|
|
CA351955248 rs1559432083 |
193 | R>T | No |
ClinGen Ensembl |
|
|
rs1424358943 CA351955260 |
195 | W>R | No |
ClinGen gnomAD |
|
|
CA71810184 rs920304365 |
197 | K>R | No |
ClinGen Ensembl |
|
|
CA2286036 rs369186426 |
198 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1255602950 CA351955293 |
200 | A>T | No |
ClinGen gnomAD |
No associated diseases with Q96LR5
1 regional properties for Q96LR5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Sirtuin family, catalytic core domain | 33 - 307 | IPR026590 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.23 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ISG15 transferase activity | Catalysis of the transfer of ISG15 from one protein to another via the reaction X-ISG15 + Y --> Y-ISG15 + X, where both X-ISG15 and Y-ISG15 are covalent linkages. |
| ubiquitin conjugating enzyme activity | Isoenergetic transfer of ubiquitin from one protein to another via the reaction X-ubiquitin + Y -> Y-ubiquitin + X, where both the X-ubiquitin and Y-ubiquitin linkages are thioester bonds between the C-terminal glycine of ubiquitin and a sulfhydryl side group of a cysteine residue. |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| ISG15-protein conjugation | The covalent addition to a protein of ISG15, a ubiquitin-like protein. |
| positive regulation of G1/S transition of mitotic cell cycle | Any signalling pathway that increases or activates a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle. |
| protein K11-linked ubiquitination | A protein ubiquitination process in which ubiquitin monomers are attached to a protein, and then ubiquitin polymers are formed by linkages between lysine residues at position 11 of the ubiquitin monomers. K11-linked polyubiquitination targets the substrate protein for degradation. The anaphase-promoting complex promotes the degradation of mitotic regulators by assembling K11-linked polyubiquitin chains. |
| protein K48-linked ubiquitination | A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is added to a protein. K48-linked ubiquitination targets the substrate protein for degradation. |
| protein K63-linked ubiquitination | A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is added to a protein. K63-linked ubiquitination does not target the substrate protein for degradation, but is involved in several pathways, notably as a signal to promote error-free DNA postreplication repair. |
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q32LD2 | UBE2T | Ubiquitin-conjugating enzyme E2 T | Bos taurus (Bovine) | PR |
| P35128 | ben | Ubiquitin-conjugating enzyme E2 N | Drosophila melanogaster (Fruit fly) | PR |
| P25867 | eff | Ubiquitin-conjugating enzyme E2-17 kDa | Drosophila melanogaster (Fruit fly) | PR |
| Q969T4 | UBE2E3 | Ubiquitin-conjugating enzyme E2 E3 | Homo sapiens (Human) | PR |
| Q9NPD8 | UBE2T | Ubiquitin-conjugating enzyme E2 T | Homo sapiens (Human) | PR |
| Q16763 | UBE2S | Ubiquitin-conjugating enzyme E2 S | Homo sapiens (Human) | EV |
| Q9Y385 | UBE2J1 | Ubiquitin-conjugating enzyme E2 J1 | Homo sapiens (Human) | PR |
| Q9H8T0 | AKTIP | AKT-interacting protein | Homo sapiens (Human) | PR |
| P61086 | UBE2K | Ubiquitin-conjugating enzyme E2 K | Homo sapiens (Human) | PR |
| O00762 | UBE2C | Ubiquitin-conjugating enzyme E2 C | Homo sapiens (Human) | PR |
| O14933 | UBE2L6 | Ubiquitin/ISG15-conjugating enzyme E2 L6 | Homo sapiens (Human) | PR |
| Q7Z7E8 | UBE2Q1 | Ubiquitin-conjugating enzyme E2 Q1 | Homo sapiens (Human) | PR |
| A1L167 | UBE2QL1 | Ubiquitin-conjugating enzyme E2Q-like protein 1 | Homo sapiens (Human) | PR |
| Q9CQ37 | Ube2t | Ubiquitin-conjugating enzyme E2 T | Mus musculus (Mouse) | PR |
| P61079 | Ube2d3 | Ubiquitin-conjugating enzyme E2 D3 | Mus musculus (Mouse) | PR |
| P52483 | Ube2e3 | Ubiquitin-conjugating enzyme E2 E3 | Mus musculus (Mouse) | PR |
| P35129 | let-70 | Ubiquitin-conjugating enzyme E2 2 | Caenorhabditis elegans | PR |
| Q9C8X7 | UBC31 | Probable ubiquitin-conjugating enzyme E2 31 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SLE4 | UBC29 | Ubiquitin-conjugating enzyme E2 29 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LJD7 | COP10 | Constitutive photomorphogenesis protein 10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSTEAQRVDD | SPSTSGGSSD | GDQRESVQQE | PEREQVQPKK | KEGKISSKTA | AKLSTSAKRI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QKELAEITLD | PPPNCSAGPK | GDNIYEWRST | ILGPPGSVYE | GGVFFLDITF | SPDYPFKPPK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTFRTRIYHC | NINSQGVICL | DILKDNWSPA | LTISKVLLSI | CSLLTDCNPA | DPLVGSIATQ |
| 190 | 200 | ||||
| YMTNRAEHDR | MARQWTKRYA | T |