Q5U3C3
PR
Gene name |
TMEM164 |
Protein name |
Transmembrane protein 164 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84187 |
EC number |
|
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
1 structures for Q5U3C3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5U3C3-F1 | Predicted | AlphaFoldDB |
103 variants for Q5U3C3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10491284 rs767122986 |
6 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414219691 rs1162011807 |
7 | Q>R | No |
ClinGen gnomAD |
|
|
rs1327999685 CA414219730 |
12 | W>C | No |
ClinGen TOPMed |
|
|
rs755658982 CA10491286 |
13 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA414219780 rs1399725364 |
20 | S>I | Variant assessed as Somatic; 0.000126 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1009471117 CA334311499 |
22 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs199530328 CA334311500 |
22 | A>V | No |
ClinGen 1000Genomes |
|
|
CA10491289 rs755261086 |
24 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA414219843 rs1226814334 |
30 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 35 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 36 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1018723895 CA334311501 |
43 | V>M | No |
ClinGen TOPMed |
|
|
rs1322385608 CA414219962 |
48 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA334311504 rs986580010 |
53 | I>M | No |
ClinGen Ensembl |
|
|
rs912007233 CA334311505 |
54 | L>M | No |
ClinGen TOPMed |
|
|
rs912007233 CA414219996 |
54 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 58 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10491290 COSM1113060 rs779382173 |
58 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10491291 rs748638421 |
61 | L>P | No |
ClinGen ExAC |
|
|
CA334311506 rs943431267 |
62 | R>K | No |
ClinGen Ensembl |
|
|
rs868662841 CA334311507 |
63 | Q>K | No |
ClinGen Ensembl |
|
|
CA414220057 rs1487199000 |
64 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA414220082 rs747033475 |
67 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373068537 CA10491295 |
68 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10491296 rs776675744 |
70 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776675744 CA10491297 |
70 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10491298 rs768316088 |
72 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10491299 rs774346694 |
74 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA414220128 rs1413081233 |
75 | Q>L | No |
ClinGen TOPMed |
|
|
CA414220148 rs1210914759 |
78 | Q>E | No |
ClinGen gnomAD |
|
|
rs750403634 CA10491302 |
79 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1446157829 CA414220157 |
79 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA414220177 rs760058428 |
82 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA10491303 rs760058428 |
82 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10491304 rs377651326 |
85 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249852813 CA414220199 |
86 | G>S | No |
ClinGen TOPMed |
|
|
CA414220246 rs1569290076 |
92 | K>R | No |
ClinGen Ensembl |
|
|
rs1464254546 CA414220328 |
105 | V>L | No |
ClinGen TOPMed |
|
|
rs754715164 CA10491306 |
112 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 120 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 123 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758775231 CA10491309 |
129 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10491339 rs746914013 |
133 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA414220545 rs1298655669 |
134 | L>P | No |
ClinGen TOPMed |
|
|
CA414220555 rs1207726542 |
136 | C>R | No |
ClinGen gnomAD |
|
|
CA414220584 rs201125475 |
140 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201125475 CA10491342 |
140 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1457996767 CA414220582 |
140 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA414220590 rs1353622545 |
141 | G>A | No |
ClinGen gnomAD |
|
|
rs1475127928 CA414220585 |
141 | G>R | No |
ClinGen TOPMed |
|
|
rs764758124 CA10491343 |
143 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10491345 rs747278594 |
144 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537045230 CA10491346 |
145 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 152 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10491364 rs768232869 |
157 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10491365 rs773889067 |
159 | A>P | No |
ClinGen ExAC gnomAD |
|
|
COSM299798 rs1602702861 CA414221621 |
186 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs868797562 CA334321792 |
187 | V>I | No |
ClinGen Ensembl |
|
|
rs199774620 CA10491385 |
189 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414221640 rs1602702894 |
189 | I>T | No |
ClinGen Ensembl |
|
|
rs139355653 CA10491384 |
189 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773773954 CA10491386 |
192 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs925801401 CA334323723 |
196 | G>D | No |
ClinGen TOPMed |
|
|
rs747826088 CA10491401 |
199 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA414220836 rs1373140486 |
202 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1464025950 CA414220842 |
203 | L>F | No |
ClinGen gnomAD |
|
|
CA334323724 rs34026111 VAR_054035 |
204 | S>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs773009282 CA10491403 |
207 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs376172046 CA10491402 |
207 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 215 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159686583 CA414220942 |
218 | F>V | No |
ClinGen TOPMed |
|
|
rs1470841964 CA414220962 |
220 | H>Q | No |
ClinGen TOPMed |
|
|
rs758834152 CA10491406 |
223 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 225 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764165529 CA10491411 |
228 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777522960 CA10491421 |
232 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA10491420 COSM200889 rs757945538 |
232 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10491422 rs746695781 |
236 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA334323847 rs867603814 |
242 | A>T | No |
ClinGen Ensembl |
|
|
CA10491423 rs201874914 |
243 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414221143 rs1262400062 |
246 | P>S | No |
ClinGen TOPMed |
|
|
CA414221161 rs1237825310 |
248 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs777193664 CA10491424 |
251 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 253 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA334323848 rs960234465 |
257 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 258 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 261 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146630087 CA10491425 |
262 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10491426 rs146630087 |
262 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 263 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_035671 | 276 | Y>H | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA10491430 rs374331197 |
277 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10491432 rs766150763 |
287 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs766150763 CA414221421 |
287 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs753646007 CA10491433 |
289 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753646007 CA414221435 |
289 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769642174 CA334323851 |
290 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1015477892 CA334323850 |
290 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs746973766 CA414221465 |
294 | K>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA334323852 rs746973766 |
294 | K>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1602751378 CA414221515 |
297 | D>G | No |
ClinGen Ensembl |
|
|
rs765031945 CA10491435 |
298 | D>R | No |
ClinGen ExAC gnomAD |
No associated diseases with Q5U3C3
No regional properties for Q5U3C3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5U3C3 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRYSYQSLL | DWLYGGVDPS | FAGNGGPDCA | AFLSWQQRLL | ESVVVLTLAL | LEILVALRHI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LRQTKEDGRG | SPGSQPEQVT | QRPEEGKESL | SKNLLLVALC | LTFGVEVGFK | FATKTVIYLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NPCHLVTMMH | IFLLACPPCR | GAIVVFKLQM | HMLNGALLAL | LFPVVNTRLL | PFELEIYYIQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HVMLYVVPIY | LLWKGGAYTP | EPLSSFRWAL | LSTGLMFFYH | FSVLQILGLV | TEVNLNNMLC |
| 250 | 260 | 270 | 280 | 290 | |
| PAISDPFYGP | WYRIWASGHQ | TLMTMTHGKL | VILFSYMAGP | LCKYLLDLLR | LPAKKID |