Q9BXS5
Gene name |
AP1M1 (CLTNM) |
Protein name |
AP-1 complex subunit mu-1 |
Names |
AP-mu chain family member mu1A, Adaptor protein complex AP-1 subunit mu-1, Adaptor-related protein complex 1 subunit mu-1, Clathrin assembly protein complex 1 mu-1 medium chain 1, Clathrin coat assembly protein AP47, Clathrin coat-associated protein AP47, Golgi adaptor HA1/AP1 adaptin mu-1 subunit, Mu-adaptin 1, Mu1A-adaptin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8907 |
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 Q9BXS5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BXS5-F1 | Predicted | AlphaFoldDB |
214 variants for Q9BXS5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1215980229 CA404588124 |
3 | A>S | No |
ClinGen gnomAD |
|
|
CA404588122 rs1215980229 |
3 | A>T | No |
ClinGen gnomAD |
|
|
rs770895102 CA404588133 |
4 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA9276559 rs746516632 |
4 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA9276561 rs776608508 |
6 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1259051704 CA404588142 |
6 | V>L | No |
ClinGen gnomAD |
|
|
CA404588767 rs1599451774 |
16 | L>I | No |
ClinGen Ensembl |
|
|
rs766789996 CA9276589 |
18 | C>F | No |
ClinGen ExAC |
|
| TCGA novel | 18 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305916718 rs969307658 |
19 | R>Q | No |
ClinGen TOPMed |
|
|
CA9276590 rs377502937 |
19 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1262886604 CA404588836 |
21 | Y>D | No |
ClinGen TOPMed |
|
|
rs970350647 CA305916723 |
22 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9276591 rs534027489 |
22 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs117647142 CA404588887 |
24 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9276594 rs756722435 |
24 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs200460904 COSM992431 CA9276593 |
24 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs372560384 CA9276596 COSM73688 |
25 | V>M | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA404588918 rs1306565620 |
27 | M>V | No |
ClinGen gnomAD |
|
|
CA9276597 rs769839602 |
28 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1460695035 CA404588990 |
34 | M>V | No |
ClinGen gnomAD |
|
|
rs1300241870 CA404589006 |
35 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA404589009 rs1300241870 |
35 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs927596999 CA404589025 |
36 | I>N | No |
ClinGen gnomAD |
|
|
rs927596999 CA305916739 |
36 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780111532 CA9276599 |
42 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9276600 rs749149339 |
47 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146546344 CA9276605 |
52 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1252850380 CA404589216 |
52 | H>Y | No |
ClinGen gnomAD |
|
|
rs944338208 CA305916773 |
53 | G>E | No |
ClinGen TOPMed |
|
|
rs762029617 CA9276606 |
53 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs900683307 CA305916783 |
54 | G>R | No |
ClinGen Ensembl |
|
| rs753324780 | 55 | V>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404589234 rs1599451869 |
55 | V>G | No |
ClinGen Ensembl |
|
|
rs781205990 CA305916796 |
55 | V>I | No |
ClinGen Ensembl |
|
| rs753324780 | 55 | V>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568347417 COSM242988 CA404589237 |
56 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA305916799 rs371850531 |
57 | F>L | No |
ClinGen ESP TOPMed |
|
|
CA9276612 rs374334160 |
58 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA305916810 rs746086930 |
60 | I>L | No |
ClinGen Ensembl |
|
|
CA404589284 rs1317219147 |
62 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA305916826 rs201225112 |
62 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs1050012109 CA305916821 |
62 | H>Y | No |
ClinGen TOPMed |
|
|
CA305916831 rs200294719 |
64 | N>D | No |
ClinGen 1000Genomes |
|
|
CA404589296 rs1418955873 |
64 | N>S | No |
ClinGen gnomAD |
|
|
CA9276613 rs765514475 |
65 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA404589469 rs1291197244 |
70 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs749998518 CA9276636 |
75 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM3692459 CA404589536 rs1218074745 |
75 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9276639 rs753840973 |
76 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778991416 CA9276641 |
77 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9276642 rs778991416 COSM1733514 |
77 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs988117238 CA305918736 |
78 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 79 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9276644 rs199500241 |
82 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1402990807 CA404589589 |
82 | S>C | No |
ClinGen gnomAD |
|
|
CA305918746 rs958351649 |
83 | F>V | No |
ClinGen TOPMed |
|
|
rs1185806417 CA404589605 |
84 | L>F | No |
ClinGen TOPMed |
|
|
CA305918758 rs992476982 |
84 | L>H | No |
ClinGen Ensembl |
|
|
CA9276646 rs771009421 |
85 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1599453506 CA404589644 |
87 | V>G | No |
ClinGen Ensembl |
|
|
rs866810370 CA305920294 |
92 | S>F | No |
ClinGen Ensembl |
|
|
rs376369808 CA9276680 |
92 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9276681 rs371060297 |
93 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305920324 rs780828809 |
94 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA9276682 rs762852223 |
94 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9276684 rs149396373 |
96 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757026191 CA9276685 |
99 | E>K | No |
ClinGen ExAC |
|
|
CA404589910 rs1568348670 |
104 | R>P | No |
ClinGen Ensembl |
|
|
CA9276686 rs781418568 |
104 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77274551 CA305920348 |
106 | N>H | No |
ClinGen Ensembl |
|
|
rs1226886842 CA404589945 |
109 | I>T | No |
ClinGen gnomAD |
|
|
CA404589988 rs1467508171 |
116 | E>K | No |
ClinGen gnomAD |
|
|
rs1216173618 CA404590006 |
118 | M>T | No |
ClinGen gnomAD |
|
|
CA404590003 rs1209263030 |
118 | M>V | No |
ClinGen TOPMed |
|
|
CA404590040 rs1187302097 |
122 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA404590039 rs1191971485 |
122 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759206896 CA9276696 |
130 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 131 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769470393 CA9276697 |
132 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143519787 CA9276724 |
136 | T>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA404590274 rs1482127931 |
138 | E>K | No |
ClinGen gnomAD |
|
|
CA9276728 rs760488719 |
146 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766560881 CA9276729 |
147 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207571821 CA404590389 |
148 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9276731 rs755015923 |
149 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 149 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9276733 rs374835622 |
153 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 155 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs940245777 CA305921354 |
156 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9276735 rs369323152 |
156 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779606736 CA9276738 |
164 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 165 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378411542 CA404590526 |
165 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1302106434 CA404590534 |
166 | Y>C | No |
ClinGen gnomAD |
|
|
CA404590540 COSM238805 rs1276538675 |
167 | R>Q | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA404590571 rs1599455163 |
171 | V>G | No |
ClinGen Ensembl |
|
|
rs1568349139 CA404590633 |
180 | N>S | No |
ClinGen Ensembl |
|
|
rs752308670 CA9276780 |
185 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA305941758 rs777141997 |
185 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9276779 rs752308670 |
185 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9276782 rs150789905 |
187 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305941767 rs997387577 |
188 | N>H | No |
ClinGen Ensembl |
|
|
CA9276783 rs770937090 |
188 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9276784 rs780968690 |
191 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745679023 CA9276785 |
191 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305941794 rs769670450 |
193 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA9276786 rs769670450 |
193 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA404591078 rs1327759014 |
195 | V>A | No |
ClinGen TOPMed |
|
|
CA9276788 rs763211790 |
195 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866359375 CA305941807 |
197 | S>F | No |
ClinGen Ensembl |
|
|
CA9276789 rs377436209 |
199 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774557887 CA9276790 |
201 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1347412340 CA404591116 |
201 | R>Q | No |
ClinGen gnomAD |
|
|
CA404591121 rs1217762009 |
202 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459508738 CA404591211 |
216 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1179943711 CA404591222 |
217 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 219 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9276794 rs761062270 |
221 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1170449687 CA404591275 |
225 | R>C | No |
ClinGen gnomAD |
|
|
COSM992435 rs200593906 CA9276809 |
226 | G>S | Variant assessed as Somatic; 4.623e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA404591326 rs1239191986 |
231 | V>M | No |
ClinGen TOPMed |
|
|
CA404591353 rs1171321385 |
235 | D>N | No |
ClinGen gnomAD |
|
|
rs777016904 CA9276813 |
243 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766864704 CA9276812 |
243 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9276815 rs763828773 |
245 | S>T | No |
ClinGen ExAC TOPMed |
|
|
CA9276816 rs199959764 |
246 | R>C | No |
ClinGen 1000Genomes ExAC |
|
|
CA404591428 rs1399686897 |
246 | R>H | No |
ClinGen gnomAD |
|
|
rs1599465159 CA404591469 |
252 | T>P | No |
ClinGen Ensembl |
|
|
CA9276823 rs754683740 |
260 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260699863 CA404591528 |
261 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA404591579 rs368590185 |
267 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1332342028 CA404591586 |
268 | R>H | No |
ClinGen TOPMed |
|
|
rs1456371703 CA404591589 |
269 | L>F | No |
ClinGen gnomAD |
|
|
rs748254657 CA9276825 |
270 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA404591597 COSM3937915 rs748254657 |
270 | N>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA305942813 rs772322734 |
272 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs897752772 CA305943222 |
274 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs556098749 CA404591672 |
279 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376335032 CA9276857 |
280 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1599465409 CA404591682 |
281 | S>A | No |
ClinGen Ensembl |
|
|
rs1599465413 CA404591691 |
282 | V>G | No |
ClinGen Ensembl |
|
|
CA404591693 rs1599465416 |
283 | I>V | No |
ClinGen Ensembl |
|
|
CA9276861 rs752479355 |
284 | E>K | Variant assessed as Somatic; 9.369e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1328679864 CA404591710 |
285 | K>M | No |
ClinGen gnomAD |
|
|
rs758159905 CA9276862 |
286 | H>P | No |
ClinGen ExAC |
|
|
CA9276863 rs778001987 |
287 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA9276864 rs751713363 |
287 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199710426 CA9276866 |
288 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA404591733 rs1175263849 |
289 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1181399861 CA404591747 |
291 | I>V | No |
ClinGen TOPMed |
|
|
CA404591753 rs1263582788 |
292 | E>K | No |
ClinGen gnomAD |
|
|
CA404591778 rs1196680088 |
295 | I>L | Variant assessed as Somatic; 0.005653 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404591837 rs1285612939 |
301 | F>Y | No |
ClinGen gnomAD |
|
|
COSM32541 rs999036825 CA305943790 VAR_036536 |
303 | R>Q | Variant assessed as Somatic; impact. breast a breast cancer sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt NCI-TCGA dbSNP gnomAD |
|
rs1599465735 CA404591861 |
305 | S>A | No |
ClinGen Ensembl |
|
|
CA404591881 rs1219220232 |
308 | N>S | No |
ClinGen gnomAD |
|
|
rs774173547 CA404591894 |
310 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774173547 CA9276900 |
310 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9276901 rs761575577 |
311 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1410930791 CA404591914 |
313 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404591925 rs1163713305 |
314 | I>M | No |
ClinGen gnomAD |
|
|
CA9276902 rs767655492 |
314 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs774060620 CA404591944 |
318 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143405159 CA9276906 |
318 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774060620 CA9276905 |
318 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779538071 CA9276908 |
327 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9276909 rs151315587 |
327 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA404592015 rs1351766838 |
328 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9276913 rs769317734 |
332 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305943873 rs868848082 |
336 | P>S | No |
ClinGen Ensembl |
|
|
rs1427640634 CA404592072 |
337 | E>K | No |
ClinGen gnomAD |
|
|
rs748765049 CA9276915 |
339 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs774225467 CA9276917 |
340 | E>D | No |
ClinGen ExAC |
|
|
rs919365752 CA305943901 |
340 | E>G | No |
ClinGen Ensembl |
|
|
CA404592094 rs1237111697 |
340 | E>K | No |
ClinGen gnomAD |
|
|
CA9276919 rs767279011 |
342 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323886622 CA404592119 |
343 | W>C | No |
ClinGen TOPMed |
|
|
rs773324732 CA9276920 |
345 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM711366 CA404592159 rs1453358092 |
349 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs766509522 CA9276922 |
349 | P>T | No |
ClinGen ExAC gnomAD |
|
| rs888741271 | 350 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399746154 CA404592180 |
351 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1399746154 CA404592178 |
351 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404592221 rs1328692864 |
356 | M>I | No |
ClinGen gnomAD |
|
|
CA404592224 rs1270205348 |
357 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM181767 rs1228874814 CA404592223 |
357 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9276943 rs111489002 |
360 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145833370 CA9276944 |
361 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1490425955 CA404592258 |
363 | P>S | No |
ClinGen gnomAD |
|
|
rs973576171 CA305948550 |
367 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs757515218 CA9276947 |
368 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA404592348 rs1568356706 |
376 | I>L | No |
ClinGen Ensembl |
|
|
rs753423243 CA9276950 |
377 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 379 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9276951 rs754498704 |
381 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA404592436 rs1481586055 |
388 | S>F | No |
ClinGen TOPMed |
|
|
CA305948594 rs111434021 |
388 | S>P | No |
ClinGen Ensembl |
|
|
rs950393126 CA305948597 |
389 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1295999171 CA404592477 |
393 | R>C | No |
ClinGen gnomAD |
|
|
CA404592478 rs1414106796 COSM992439 |
393 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 398 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 403 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404592596 rs1225215606 |
410 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA305949276 rs886291636 |
413 | T>M | No |
ClinGen TOPMed |
|
|
rs762285943 CA9276982 |
414 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA404592635 rs1253211949 |
416 | G>R | No |
ClinGen gnomAD |
|
|
CA305949586 rs930532373 |
420 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 423 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404592699 rs1280842866 |
423 | Q>H | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9BXS5
1 regional properties for Q9BXS5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 84 - 543 | IPR017452 |
Functions
13 GO annotations of cellular component
| Name | Definition |
|---|---|
| AP-1 adaptor complex | A heterotetrameric AP-type membrane coat adaptor complex that consists of beta1, gamma, mu1 and sigma1 subunits and links clathrin to the membrane surface of a vesicle; vesicles with AP-1-containing coats are normally found primarily in the trans-Golgi network. In at least humans, the AP-1 complex can be heterogeneric due to the existence of multiple subunit isoforms encoded by different genes (gamma1 and gamma2, mu1A and mu1B, and sigma1A, sigma1B and sigma1C). |
| clathrin-coated vesicle | A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| 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. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| specific granule membrane | The lipid bilayer surrounding a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase. |
| trans-Golgi network membrane | The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| clathrin adaptor activity | Bringing together a cargo protein with clathrin, responsible for the formation of endocytic vesicles. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| endosome to melanosome transport | The directed movement of substances from endosomes to the melanosome, a specialised lysosome-related organelle. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| melanosome assembly | The aggregation, arrangement and bonding together of a set of components to form a melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. |
| melanosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a melanosome. A melanosome is a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. |
| platelet dense granule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a platelet dense granule. A platelet dense granule is an electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q00776 | APM1 | AP-1 complex subunit mu-1-I | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q3SYW1 | AP1M2 | AP-1 complex subunit mu-2 | Bos taurus (Bovine) | PR |
| Q2KJ81 | AP1M1 | AP-1 complex subunit mu-1 | Bos taurus (Bovine) | PR |
| Q9Y6Q5 | AP1M2 | AP-1 complex subunit mu-2 | Homo sapiens (Human) | PR |
| Q96CW1 | AP2M1 | AP-2 complex subunit mu | Homo sapiens (Human) | PR |
| Q9WVP1 | Ap1m2 | AP-1 complex subunit mu-2 | Mus musculus (Mouse) | PR |
| P35585 | Ap1m1 | AP-1 complex subunit mu-1 | Mus musculus (Mouse) | PR |
| Q32Q06 | Ap1m1 | AP-1 complex subunit mu-1 | Rattus norvegicus (Rat) | PR |
| Q9SB50 | AP4M | AP-4 complex subunit mu | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SAC9 | AP1M1 | AP-1 complex subunit mu-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22715 | AP1M2 | AP-1 complex subunit mu-2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSASAVYVLD | LKGKVLICRN | YRGDVDMSEV | EHFMPILMEK | EEEGMLSPIL | AHGGVRFMWI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KHNNLYLVAT | SKKNACVSLV | FSFLYKVVQV | FSEYFKELEE | ESIRDNFVII | YELLDELMDF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GYPQTTDSKI | LQEYITQEGH | KLETGAPRPP | ATVTNAVSWR | SEGIKYRKNE | VFLDVIESVN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLVSANGNVL | RSEIVGSIKM | RVFLSGMPEL | RLGLNDKVLF | DNTGRGKSKS | VELEDVKFHQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CVRLSRFEND | RTISFIPPDG | EFELMSYRLN | THVKPLIWIE | SVIEKHSHSR | IEYMIKAKSQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FKRRSTANNV | EIHIPVPNDA | DSPKFKTTVG | SVKWVPENSE | IVWSIKSFPG | GKEYLMRAHF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLPSVEAEDK | EGKPPISVKF | EIPYFTTSGI | QVRYLKIIEK | SGYQALPWVR | YITQNGDYQL |
| RTQ |