Q9H3M9
Gene name |
ATXN3L |
Protein name |
Ataxin-3-like protein |
Names |
Machado-Joseph disease protein 1-like |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:92552 |
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
2 structures for Q9H3M9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3O65 | X-ray | 270 A | A/C/E/G | 1-190 | PDB |
| AF-Q9H3M9-F1 | Predicted | AlphaFoldDB |
225 variants for Q9H3M9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10350687 RCV001249491 rs772014789 |
289 | K>* | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10350793 rs748416747 |
6 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1485888671 CA412424093 |
9 | Q>* | No |
ClinGen gnomAD |
|
|
CA412424057 rs1281233356 |
14 | C>Y | No |
ClinGen gnomAD |
|
|
CA326829195 rs891490053 |
15 | A>S | No |
ClinGen Ensembl |
|
|
rs781376546 CA10350792 |
17 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 19 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412424011 rs1255541277 |
21 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA326829194 rs980434795 |
24 | Q>H | No |
ClinGen TOPMed |
|
|
CA10350789 rs778907160 |
25 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201381068 CA10350787 |
26 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs917866768 CA326829193 |
26 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10350788 rs201381068 |
26 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA326829192 rs371393419 |
28 | F>L | No |
ClinGen ESP TOPMed |
|
|
CA412423959 rs1241212746 |
29 | S>C | No |
ClinGen TOPMed |
|
|
rs991997735 CA326829191 |
29 | S>R | No |
ClinGen TOPMed |
|
|
rs956713973 CA326829189 |
36 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA326829190 rs904693853 |
36 | I>V | No |
ClinGen Ensembl |
|
|
CA412423903 rs1158694071 |
37 | A>V | No |
ClinGen gnomAD |
|
|
CA326829188 rs1044552887 |
38 | H>P | No |
ClinGen gnomAD |
|
|
CA412423902 rs1455255541 |
38 | H>Y | No |
ClinGen gnomAD |
|
|
CA412423894 rs1158352431 |
39 | Q>* | No |
ClinGen gnomAD |
|
|
CA10350786 rs763881218 |
39 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412423874 rs1453756944 |
42 | E>Q | No |
ClinGen gnomAD |
|
|
CA10350785 rs755713922 |
43 | E>K | No |
ClinGen ExAC |
|
|
CA326829186 rs968140111 |
44 | E>D | No |
ClinGen TOPMed |
|
|
CA412423860 rs1458903374 COSM1644419 |
44 | E>K | salivary_gland [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA412423855 rs1335243799 |
44 | E>V | No |
ClinGen TOPMed |
|
|
rs1440955010 CA412423843 |
46 | M>K | No |
ClinGen gnomAD |
|
|
rs752323020 CA10350784 |
50 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA412423805 rs1205752268 |
51 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10350783 rs767113906 |
52 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1228326272 CA412423787 |
54 | T>I | No |
ClinGen gnomAD |
|
|
CA10350781 rs759080256 |
54 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs773788971 CA10350780 |
55 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1295564492 CA412423781 |
55 | S>R | No |
ClinGen gnomAD |
|
|
rs1242134104 CA412423778 |
56 | E>K | No |
ClinGen gnomAD |
|
|
CA412423771 rs1339547318 |
57 | E>K | No |
ClinGen gnomAD |
|
|
CA412423756 rs1383355686 |
58 | Y>* | No |
ClinGen gnomAD |
|
|
CA412423754 rs1404824436 |
59 | L>V | No |
ClinGen gnomAD |
|
|
CA412423733 rs1315342928 |
62 | L>S | No |
ClinGen TOPMed |
|
|
rs1461948087 CA412423696 |
67 | E>G | No |
ClinGen gnomAD |
|
|
CA412423665 rs1419729709 |
71 | D>N | No |
ClinGen gnomAD |
|
|
CA10350777 rs773667791 |
72 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA412423653 rs777424010 |
73 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777424010 CA10350776 |
73 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748575975 CA10350775 |
78 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA412423584 rs1430317359 |
83 | A>T | No |
ClinGen gnomAD |
|
|
CA10350774 rs188342261 |
83 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10350773 CA412423574 rs768829264 |
84 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA326829184 rs774144793 |
92 | I>F | No |
ClinGen Ensembl |
|
|
CA326829183 rs996217924 |
93 | H>L | No |
ClinGen TOPMed |
|
|
CA326829182 rs866999936 |
97 | P>L | No |
ClinGen Ensembl |
|
|
rs374978755 CA10350771 |
100 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412423455 rs1229239368 |
101 | K>Q | No |
ClinGen gnomAD |
|
|
CA412423441 rs199861470 |
103 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199861470 CA10350769 |
103 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10350768 rs764706361 |
104 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10350765 rs547199495 |
105 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777735967 CA10350766 |
105 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 107 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412423383 rs1458826007 |
111 | S>F | No |
ClinGen TOPMed |
|
|
CA412423380 rs1168712301 |
112 | F>V | No |
ClinGen gnomAD |
|
|
CA10350764 rs752553667 |
112 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10350763 rs780881304 |
113 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1174449373 CA412423374 |
113 | I>V | No |
ClinGen TOPMed |
|
|
CA326829179 rs762407706 |
116 | Y>F | No |
ClinGen gnomAD |
|
|
CA10350760 rs765832902 |
121 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412423312 rs765832902 |
121 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10350759 rs375597318 |
122 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750946907 CA10350758 |
123 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 124 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412423285 rs1197155274 |
125 | K>T | No |
ClinGen gnomAD |
|
|
rs762266129 CA10350756 |
133 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412423223 rs953959502 |
133 | L>V | No |
ClinGen gnomAD |
|
|
CA412423207 rs1391192608 COSM1115412 |
135 | S>F | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1555931850 CA10350754 |
136 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1287248113 CA412423202 |
136 | L>P | No |
ClinGen TOPMed |
|
|
rs138056772 CA10350753 |
138 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138056772 CA10350752 |
138 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1253857551 CA412423180 |
140 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775599144 COSM1465726 CA412423138 |
146 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs775599144 CA10350750 |
146 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257708261 CA412423133 |
147 | C>R | No |
ClinGen TOPMed |
|
|
rs202175024 CA10350749 |
147 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745986918 CA10350748 |
149 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1252801787 CA412423086 COSM755299 |
154 | R>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs376294771 CA10350746 |
154 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747877809 CA10350745 |
157 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA326829175 rs772727645 |
158 | Q>* | No |
ClinGen gnomAD |
|
|
CA412423060 rs772727645 |
158 | Q>E | No |
ClinGen gnomAD |
|
|
rs1406501323 CA412423059 |
158 | Q>P | No |
ClinGen Ensembl |
|
|
CA10350743 rs780851738 |
159 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1433874686 CA412423036 |
161 | S>F | No |
ClinGen TOPMed |
|
|
CA10350739 rs199954866 |
164 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199943946 CA10350738 |
165 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868368488 CA326829174 |
167 | G>S | No |
ClinGen Ensembl |
|
|
rs1371854426 CA412422991 |
168 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 168 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429508810 CA412422983 |
170 | P>S | No |
ClinGen TOPMed |
|
|
rs765827656 CA10350737 |
172 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA10350736 rs762425230 |
174 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA412422937 rs1281246257 |
176 | Q>H | No |
ClinGen gnomAD |
|
|
CA412422908 COSM1465722 rs1407714885 |
181 | I>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA10350734 rs367551011 |
184 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA326829172 rs769343025 |
185 | E>Q | No |
ClinGen gnomAD |
|
|
CA10350733 rs747767169 |
186 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373746855 CA10350732 |
189 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412422852 rs373746855 |
189 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1162014550 CA412422815 |
194 | K>R | No |
ClinGen gnomAD |
|
| rs1411781059 | 195 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350730 rs759596951 |
195 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774425178 CA10350729 |
196 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305759921 CA412422800 |
196 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 196 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774425178 CA412422802 |
196 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 198 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447100833 CA412422750 |
203 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA412422746 rs1220484367 |
203 | R>S | No |
ClinGen TOPMed |
|
|
rs201089107 CA326829171 |
210 | E>A | No |
ClinGen 1000Genomes |
|
| TCGA novel | 212 | V>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776434126 CA10350726 |
213 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768318062 CA10350725 |
214 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1193057551 CA412422654 |
215 | E>K | No |
ClinGen TOPMed |
|
|
rs746865828 CA10350723 |
218 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1417977305 CA412422630 |
218 | E>K | No |
ClinGen TOPMed |
|
|
CA412422617 rs1234095927 |
220 | G>R | No |
ClinGen gnomAD |
|
|
CA10350722 rs779851334 |
221 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447306738 CA412422596 |
223 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1447306738 CA412422595 |
223 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA326829169 rs868024874 |
228 | D>N | No |
ClinGen Ensembl |
|
|
rs757799242 CA10350718 |
229 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 229 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs184627921 CA10350717 |
231 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10350715 rs756429462 |
232 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201960773 CA326829168 |
233 | L>P | No |
ClinGen gnomAD |
|
|
rs753162194 CA10350714 |
237 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM73788 CA326829167 rs1037712907 |
237 | R>H | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA326829166 rs942070814 |
238 | Q>* | No |
ClinGen Ensembl |
|
|
CA326829165 rs910652609 |
244 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs763139031 CA10350709 |
246 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs201168546 CA10350710 |
246 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA326829164 rs932459203 |
248 | R>C | No |
ClinGen gnomAD |
|
|
rs370622354 CA10350708 |
248 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10350707 rs768710080 |
249 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412422414 rs1299980041 |
250 | T>S | No |
ClinGen gnomAD |
|
|
rs746769032 CA10350706 |
250 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs775440487 CA10350705 |
251 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10350702 rs746258986 |
255 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10350703 rs745547851 |
255 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs376072867 CA10350704 |
255 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1482090554 CA412422371 |
256 | Q>R | No |
ClinGen gnomAD |
|
|
rs1163617766 CA412422347 |
260 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1274061360 CA412422328 |
262 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350700 rs768684316 |
263 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768684316 CA10350699 |
263 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10350701 rs768684316 |
263 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412422321 rs1181705785 |
264 | Q>P | No |
ClinGen TOPMed |
|
|
CA10350697 rs16999010 VAR_029861 |
266 | L>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 269 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350695 rs776445163 |
271 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1166247891 CA412422270 |
272 | V>I | No |
ClinGen TOPMed |
|
|
CA412422253 rs1385756101 |
274 | P>L | No |
ClinGen TOPMed |
|
|
rs1253481587 CA412422256 |
274 | P>S | No |
ClinGen gnomAD |
|
|
CA10350694 rs751755939 |
277 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs762941993 CA10350692 |
279 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10350693 rs766631943 |
279 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 280 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1012689560 CA326829163 |
280 | K>Q | No |
ClinGen gnomAD |
|
|
rs370877568 CA10350690 |
285 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10350689 rs760666671 |
286 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA10350688 rs775387261 |
287 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1602564983 CA412422145 |
290 | H>Y | No |
ClinGen Ensembl |
|
|
rs1569168221 CA412422135 |
291 | Q>R | No |
ClinGen Ensembl |
|
|
rs770675202 CA10350684 |
293 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs777339561 CA10350682 |
297 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs748673522 CA10350680 |
300 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10350679 rs770707973 |
301 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755301446 CA326829161 |
302 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10350678 rs755301446 |
302 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10350677 rs751991266 |
303 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1483927566 CA412422045 |
304 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs192647842 CA326829160 |
304 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA10350676 rs780131230 |
307 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA412422009 rs1270566449 |
309 | Y>* | No |
ClinGen TOPMed |
|
|
rs758662068 CA10350675 |
310 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10350674 rs750406543 |
311 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs765392102 CA10350673 |
311 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373799323 CA10350671 |
311 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369915965 COSM1465716 CA10350670 |
312 | E>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1602564901 CA412421996 COSM1465715 |
312 | E>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM25511 rs369915965 CA10350669 |
312 | E>K | large_intestine skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 313 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770421590 CA412421975 |
315 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10350667 rs770421590 |
315 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA10350666 rs762695522 |
316 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412421971 rs762695522 |
316 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769321240 CA10350664 |
318 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM274105 CA10350663 rs769321240 |
318 | S>L | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs201988976 CA10350662 |
321 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1304121001 CA412421943 |
321 | I>V | No |
ClinGen gnomAD |
|
|
CA412421938 rs1569168165 |
322 | E>Q | No |
ClinGen Ensembl |
|
|
COSM755301 CA412421929 rs1602564862 |
323 | S>G | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 323 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412421919 rs1376950872 |
324 | D>A | No |
ClinGen gnomAD |
|
|
CA412421894 rs1359478447 |
327 | D>E | No |
ClinGen TOPMed |
|
|
CA412421869 rs1286616977 |
331 | E>K | No |
ClinGen TOPMed |
|
|
rs4830842 CA412421858 |
332 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_029862 rs4830842 CA10350661 |
332 | G>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10350659 rs769214229 |
334 | V>L | No |
ClinGen ExAC |
|
|
CA10350658 rs199968559 |
335 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750682579 CA10350655 |
337 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10350656 rs750682579 |
337 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1200343718 CA412421829 |
337 | A>V | No |
ClinGen TOPMed |
|
|
rs978675466 CA326829158 |
339 | D>G | No |
ClinGen Ensembl |
|
|
rs1279979260 CA412421822 COSM259168 |
339 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA10350653 rs200821460 |
342 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412421778 rs754028227 |
345 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA10350652 rs754028227 |
345 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs766819464 CA10350651 |
346 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs991638578 CA326829157 |
355 | K>N | No |
ClinGen Ensembl |
|
|
CA412421699 rs1227367143 |
356 | K>Q | No |
ClinGen gnomAD |
No associated diseases with Q9H3M9
3 regional properties for Q9H3M9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Ubiquitin interacting motif | 224 - 243 | IPR003903-1 |
| conserved_site | Ubiquitin interacting motif | 243 - 261 | IPR003903-2 |
| domain | Josephin domain | 1 - 180 | IPR006155 |
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 | |
2 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. |
| 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. |
1 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. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| protein deubiquitination | The removal of one or more ubiquitin groups from a protein. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDFIFHEKQE | GFLCAQHCLN | NLLQGEYFSP | VELASIAHQL | DEEERMRMAE | GGVTSEEYLA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FLQQPSENMD | DTGFFSIQVI | SNALKFWGLE | IIHFNNPEYQ | KLGIDPINER | SFICNYKQHW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FTIRKFGKHW | FNLNSLLAGP | ELISDTCLAN | FLARLQQQAY | SVFVVKGDLP | DCEADQLLQI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ISVEEMDTPK | LNGKKLVKQK | EHRVYKTVLE | KVSEESDESG | TSDQDEEDFQ | RALELSRQET |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NREDEHLRST | IELSMQGSSG | NTSQDLPKTS | CVTPASEQPK | KIKEDYFEKH | QQEQKQQQQQ |
| 310 | 320 | 330 | 340 | 350 | |
| SDLPGHSSYL | HERPTTSSRA | IESDLSDDIS | EGTVQAAVDT | ILEIMRKNLK | IKGEK |