Q96FW1
Gene name |
OTUB1 (OTB1, OTU1, HSPC263) |
Protein name |
Ubiquitin thioesterase OTUB1 |
Names |
Deubiquitinating enzyme OTUB1, OTU domain-containing ubiquitin aldehyde-binding protein 1, Otubain-1, hOTU1, Ubiquitin-specific-processing protease OTUB1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55611 |
EC number |
3.4.19.12: Omega peptidases |
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
8 structures for Q96FW1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2ZFY | X-ray | 169 A | A | 40-271 | PDB |
| 3VON | X-ray | 315 A | A/H/O/V/c/j | 45-271 | PDB |
| 4DDG | X-ray | 330 A | A/B/C/J/K/L | 25-271 | PDB |
| 4DDI | X-ray | 380 A | A/B/C | 25-271 | PDB |
| 4DHZ | X-ray | 311 A | A | 1-45 | PDB |
| 4I6L | X-ray | 249 A | A | 45-271 | PDB |
| 4LDT | X-ray | 190 A | A | 1-45 | PDB |
| AF-Q96FW1-F1 | Predicted | AlphaFoldDB |
99 variants for Q96FW1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1169307056 | 6 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1169307056 | 6 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs146537845 | 26 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381057914 rs1565184199 |
33 | Q>* | No |
ClinGen Ensembl |
|
|
CA6066817 rs748757526 |
34 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA381057957 rs1565184210 |
36 | R>* | No |
ClinGen Ensembl |
|
| TCGA novel | 36 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1028085841 CA223770875 |
38 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 42 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6066842 rs760399947 |
44 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 46 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs183970848 CA223771158 |
50 | E>V | No |
ClinGen 1000Genomes |
|
|
rs369002057 CA6066843 |
51 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215504265 CA381058667 |
51 | R>W | No |
ClinGen gnomAD |
|
|
rs759850958 CA6066845 |
53 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1419036261 CA381058699 |
54 | L>R | No |
ClinGen gnomAD |
|
|
CA6066846 rs765392727 |
54 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1488269742 CA381058707 |
55 | S>L | No |
ClinGen TOPMed |
|
|
rs758905157 CA6066848 |
56 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA381058733 rs1289003922 |
58 | Y>C | No |
ClinGen gnomAD |
|
|
CA381058748 rs1234905006 |
59 | K>N | No |
ClinGen TOPMed |
|
|
rs17850645 CA223771191 |
61 | Y>C | No |
ClinGen Ensembl |
|
|
rs1590777982 CA381058767 |
61 | Y>D | No |
ClinGen Ensembl |
|
|
rs904675514 CA223771195 |
63 | E>K | No |
ClinGen TOPMed |
|
|
rs781653508 CA6066852 |
67 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6066853 rs748872229 |
68 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381058898 rs1335258020 |
72 | I>N | No |
ClinGen gnomAD |
|
|
rs1590782188 CA381059628 |
74 | D>A | No |
ClinGen Ensembl |
|
|
CA381059634 rs1590782191 |
74 | D>E | No |
ClinGen Ensembl |
|
|
rs368884174 CA223776134 |
76 | H>Q | No |
ClinGen ESP TOPMed |
|
|
rs1470682602 CA381059657 |
77 | K>E | No |
ClinGen gnomAD |
|
|
rs1020389687 CA223776135 |
77 | K>I | No |
ClinGen Ensembl |
|
|
rs1565186477 CA381059671 |
78 | K>T | No |
ClinGen Ensembl |
|
|
rs148874418 CA223776146 |
80 | S>L | No |
ClinGen ESP gnomAD |
|
|
rs1565186492 CA381059769 |
87 | P>R | No |
ClinGen Ensembl |
|
| TCGA novel | 88 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381059827 rs1375511814 |
92 | F>L | No |
ClinGen gnomAD |
|
|
COSM1509370 CA381059833 rs1436275463 |
93 | Y>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM193918 CA381059842 rs1254707597 |
94 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
COSM1355600 CA381059840 rs1565186502 |
94 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 98 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442604675 CA381059883 |
100 | H>Y | No |
ClinGen gnomAD |
|
|
rs775884042 CA6066883 |
101 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381059889 rs775884042 |
101 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 104 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304607311 CA381059922 |
106 | D>A | No |
ClinGen gnomAD |
|
|
rs1300028482 CA381059919 |
106 | D>H | No |
ClinGen Ensembl |
|
|
CA381059967 rs1338431658 |
112 | Q>E | No |
ClinGen TOPMed |
|
|
COSM929978 CA13550409 rs147019398 |
113 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
| rs751755933 | 156 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750475835 CA6066982 |
158 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1467186831 CA381060327 |
160 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 161 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756590037 CA6066983 |
163 | N>S | No |
ClinGen ExAC gnomAD |
|
| rs1438775569 | 169 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755363848 CA6066986 |
174 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 176 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381060454 rs1347627290 |
179 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA223776927 rs926342684 |
180 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1236924379 CA381060470 |
182 | Y>C | No |
ClinGen gnomAD |
|
| rs937695868 | 185 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942716031 CA223776942 |
185 | R>H | No |
ClinGen TOPMed |
|
| rs745390279 | 186 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6066992 rs769730926 |
187 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs11537828 CA6066995 CA223776954 |
195 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1033480567 CA223776966 |
197 | G>V | No |
ClinGen Ensembl |
|
|
CA6066997 rs761953822 |
198 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| rs756050985 | 198 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 202 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 203 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1030215946 | 216 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256016375 CA381060770 |
222 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA381060790 rs1176243407 |
226 | A>S | No |
ClinGen TOPMed |
|
|
CA6067027 rs755858584 |
227 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6067029 rs200423792 |
228 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA381060846 rs778856937 |
234 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170376843 CA381060874 |
238 | R>G | No |
ClinGen gnomAD |
|
|
CA223777239 rs945014300 |
239 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6067035 rs148181122 |
240 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6067034 rs773118356 |
240 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM929981 rs1332837418 CA381060898 |
242 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs910361138 CA223777252 |
243 | T>I | No |
ClinGen gnomAD |
|
|
rs910361138 CA381060906 |
243 | T>S | No |
ClinGen gnomAD |
|
|
rs1363127053 CA381060912 |
244 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs765447237 CA6067039 |
245 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs753233012 CA6067040 |
246 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs764357623 CA6067042 |
247 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6067044 rs755663560 |
248 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779780540 CA6067045 |
252 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381060999 rs779780540 |
252 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381061001 rs779780540 |
252 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754453978 CA6067047 |
254 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778444099 CA6067048 |
256 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA381061053 rs748068381 |
256 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381061079 rs1403633673 |
258 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397830557 CA381061123 |
262 | R>W | No |
ClinGen TOPMed |
|
|
CA381061159 rs1402066808 |
265 | H>P | No |
ClinGen gnomAD |
|
|
CA381061229 rs1286420368 COSM1663296 |
270 | Y>H | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
No associated diseases with Q96FW1
1 regional properties for Q96FW1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | OTU domain | 80 - 271 | IPR003323 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.19.12 | Omega peptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 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. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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 |
|---|---|
| cysteine-type deubiquitinase activity | An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated. |
| deNEDDylase activity | An isopeptidase activity that cleaves NEDD8 from a target protein to which it is conjugated. |
| ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| 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. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| negative regulation of double-strand break repair | Any process that stops, prevents or reduces the frequency, rate or extent of double-strand break repair. |
| negative regulation of histone H2A K63-linked ubiquitination | Any process that stops, prevents or reduces the frequency, rate or extent of histone H2A K63-linked ubiquitination. |
| protein K48-linked deubiquitination | A protein deubiquitination process in which a K48-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is removed from a protein. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7TQI3 | Otub1 | Ubiquitin thioesterase OTUB1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAEEPQQQK | QEPLGSDSEG | VNCLAYDEAI | MAQQDRIQQE | IAVQNPLVSE | RLELSVLYKE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YAEDDNIYQQ | KIKDLHKKYS | YIRKTRPDGN | CFYRAFGFSH | LEALLDDSKE | LQRFKAVSAK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SKEDLVSQGF | TEFTIEDFHN | TFMDLIEQVE | KQTSVADLLA | SFNDQSTSDY | LVVYLRLLTS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GYLQRESKFF | EHFIEGGRTV | KEFCQQEVEP | MCKESDHIHI | IALAQALSVS | IQVEYMDRGE |
| 250 | 260 | 270 | |||
| GGTTNPHIFP | EGSEPKVYLL | YRPGHYDILY | K |