Q9UH62
Gene name |
ARMCX3 (ALEX3, BM-017, UNQ2517/PRO6007) |
Protein name |
Armadillo repeat-containing X-linked protein 3 |
Names |
ARM protein lost in epithelial cancers on chromosome X 3, Protein ALEX3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51566 |
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 Q9UH62
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UH62-F1 | Predicted | AlphaFoldDB |
169 variants for Q9UH62
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1257173965 CA414033613 |
4 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10474066 rs200151007 |
4 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1556038240 CA414033660 |
7 | V>I | No |
ClinGen gnomAD |
|
|
rs1486916934 CA414033693 |
9 | W>R | No |
ClinGen TOPMed |
|
|
CA414033760 rs1556038249 |
12 | A>G | No |
ClinGen TOPMed |
|
|
CA414033797 rs1214514335 |
15 | V>M | No |
ClinGen TOPMed |
|
|
rs1556038252 CA414033827 |
16 | I>T | No |
ClinGen gnomAD |
|
|
rs782282127 CA10474067 |
16 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782394011 CA10474068 |
18 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10474069 rs782636138 |
18 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA414033853 rs1230999634 |
20 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 23 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10474071 rs782347784 |
26 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1354592095 CA414033911 |
28 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 32 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293632584 CA414033953 |
34 | N>S | No |
ClinGen TOPMed |
|
|
rs1416582945 CA414033969 |
36 | E>A | No |
ClinGen TOPMed |
|
|
rs1569370235 CA414033995 |
39 | A>S | No |
ClinGen Ensembl |
|
|
rs782644531 CA10474072 |
45 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138397719 CA10474073 |
46 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414034038 rs138397719 |
46 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10474075 rs782415759 |
49 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1453222109 CA414034080 |
52 | C>R | No |
ClinGen TOPMed |
|
|
rs868935240 CA414034081 |
52 | C>S | No |
ClinGen TOPMed |
|
|
CA333873607 rs868935240 |
52 | C>Y | No |
ClinGen TOPMed |
|
|
CA10474077 rs781998690 |
59 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 60 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414034158 rs1556038328 |
63 | D>N | No |
ClinGen gnomAD |
|
|
CA414034162 rs1189144991 |
63 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 64 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414034174 rs1425900337 |
65 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 66 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782110371 CA10474079 |
66 | D>E | No |
ClinGen ExAC |
|
|
CA10474080 rs782741127 |
67 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1603241641 CA414034197 |
68 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 69 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA333873609 rs112014657 |
70 | S>G | No |
ClinGen Ensembl |
|
|
rs781820213 CA10474081 |
73 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA414034248 rs1556038354 |
75 | W>R | No |
ClinGen gnomAD |
|
|
CA414034272 rs1485910186 |
78 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 80 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10474083 rs782696028 |
80 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211468081 CA414034290 |
81 | R>W | No |
ClinGen TOPMed |
|
|
CA414034298 rs1556038362 |
82 | I>T | No |
ClinGen gnomAD |
|
|
CA10474084 rs781909195 |
82 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414034316 rs1569370348 |
85 | E>A | No |
ClinGen Ensembl |
|
|
CA414034326 rs1333658285 |
86 | A>V | No |
ClinGen TOPMed |
|
|
rs782535499 CA10474085 |
88 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 91 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556038374 CA414034371 |
93 | R>S | No |
ClinGen gnomAD |
|
|
CA333873611 rs1041715655 |
100 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA414034411 rs1041715655 |
100 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10474087 rs781854858 |
100 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1556038386 CA414034421 |
102 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA414034426 rs1234962087 |
103 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10474088 rs782490463 |
109 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 114 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA333873612 rs903185505 |
117 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs375844900 CA10474091 |
120 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375844900 CA414034537 |
120 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1556038412 CA414034549 |
122 | E>* | No |
ClinGen Ensembl |
|
|
CA10474092 rs149266795 |
125 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414034571 rs149266795 |
125 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA414034606 rs1556038418 |
130 | V>A | No |
ClinGen gnomAD |
|
|
CA10474093 rs782258566 |
132 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556038433 CA414034668 |
139 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 142 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1556038442 CA414034730 |
148 | N>K | No |
ClinGen gnomAD |
|
|
COSM1682775 rs781963129 CA10474095 |
151 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 152 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459826307 CA414034795 |
157 | D>E | No |
ClinGen TOPMed |
|
|
rs868995472 CA414034812 |
160 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA333873613 rs1033127729 |
161 | D>H | No |
ClinGen Ensembl |
|
|
rs1371626978 CA414034820 |
161 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1556038455 CA414034853 |
167 | I>V | No |
ClinGen gnomAD |
|
|
CA414034859 rs1170372682 |
168 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA414034892 rs1556038462 |
173 | N>D | No |
ClinGen gnomAD |
|
|
CA414034894 rs1556038462 |
173 | N>H | No |
ClinGen gnomAD |
|
|
rs1429574589 CA414034896 |
173 | N>S | No |
ClinGen TOPMed |
|
|
rs369113898 CA10474096 |
174 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1556038479 CA414034978 |
185 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10474099 rs372051555 |
198 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA333873615 rs372051555 |
198 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1556038494 CA414035087 |
201 | K>E | No |
ClinGen gnomAD |
|
|
CA414035108 rs1556038511 |
204 | M>L | No |
ClinGen gnomAD |
|
|
CA414035126 rs1603241709 |
206 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 211 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 219 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414035274 rs1603241714 |
228 | L>F | No |
ClinGen Ensembl |
|
|
CA414035285 rs1556038529 |
229 | T>I | No |
ClinGen gnomAD |
|
|
rs1556038540 CA414035301 |
231 | M>I | No |
ClinGen gnomAD |
|
|
rs1556038544 CA414035311 |
233 | V>I | No |
ClinGen gnomAD |
|
|
CA414035318 rs1556038545 |
234 | T>A | No |
ClinGen gnomAD |
|
|
rs781828907 CA10474104 |
234 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10474105 rs782461535 |
237 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA10474106 rs782809877 |
239 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 239 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414035407 rs1250495596 |
242 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 243 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414035431 rs1556038563 |
243 | N>S | No |
ClinGen gnomAD |
|
|
rs868972628 CA414035448 |
244 | S>F | No |
ClinGen Ensembl |
|
|
CA10474107 rs781882226 |
245 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA414035473 rs1556038573 |
246 | S>C | No |
ClinGen TOPMed |
|
|
CA333873616 rs997449630 |
246 | S>P | No |
ClinGen gnomAD |
|
|
CA10474108 rs782505708 |
247 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414035531 rs1556038584 |
250 | R>C | No |
ClinGen gnomAD |
|
|
rs1556038592 CA414035541 |
250 | R>L | No |
ClinGen gnomAD |
|
|
rs376915704 CA414035559 |
251 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 251 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1301129701 CA414035597 |
254 | A>T | No |
ClinGen TOPMed |
|
|
rs782224564 CA10474110 |
254 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1556038598 CA414035629 |
256 | N>T | No |
ClinGen gnomAD |
|
|
CA414035676 rs1232255100 |
259 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 268 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782178210 CA10474114 |
268 | L>S | No |
ClinGen ExAC TOPMed |
|
|
CA10474115 rs782423340 |
272 | E>K | No |
ClinGen ExAC |
|
|
CA10474117 rs782264611 |
275 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA414036016 rs1394808823 |
282 | R>G | No |
ClinGen TOPMed |
|
|
rs955786842 CA333873617 |
283 | A>T | No |
ClinGen Ensembl |
|
|
CA333873618 rs200063096 |
283 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1556038640 CA414036073 |
285 | V>A | No |
ClinGen gnomAD |
|
|
CA10474120 rs369278711 |
286 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1556038652 CA414036105 |
288 | S>P | No |
ClinGen gnomAD |
|
|
rs1453342357 CA414036114 |
289 | L>V | No |
ClinGen TOPMed |
|
|
rs1200569279 CA414036219 |
296 | K>E | No |
ClinGen TOPMed |
|
|
rs1249343569 CA414036261 |
298 | N>S | No |
ClinGen TOPMed |
|
|
CA10474123 rs781925495 |
300 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10474124 rs782144980 |
301 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA10474125 rs138110734 |
303 | L>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 307 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781847660 CA10474126 |
307 | V>I | No |
ClinGen ExAC |
|
|
CA10474127 rs782091422 |
309 | F>S | No |
ClinGen ExAC |
|
|
rs868971969 CA414036442 |
311 | N>D | No |
ClinGen Ensembl |
|
|
rs1347256535 CA414036460 |
312 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1304190214 CA414036466 |
312 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 313 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782721194 CA10474128 |
315 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA10474129 rs781802741 |
317 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA414036575 rs1556038716 |
318 | W>C | No |
ClinGen gnomAD |
|
|
rs143586223 CA333873619 |
318 | W>R | No |
ClinGen ESP TOPMed |
|
|
rs782428966 CA10474130 |
320 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 323 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10474131 rs199850913 |
324 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 325 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA333873620 rs973119559 |
329 | G>S | No |
ClinGen Ensembl |
|
|
CA414036756 rs1556038734 |
330 | E>Q | No |
ClinGen gnomAD |
|
|
rs1556038737 CA414036774 |
331 | G>S | No |
ClinGen gnomAD |
|
|
rs1556038740 CA414036784 |
331 | G>V | No |
ClinGen gnomAD |
|
|
CA10474133 rs782522314 |
333 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10474136 rs782239191 |
335 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs115179885 CA10474134 |
335 | F>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10474137 rs782582627 |
337 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414036959 rs1434581838 |
342 | V>G | No |
ClinGen TOPMed |
|
|
CA10474139 rs782629163 |
354 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA333873621 rs937177302 |
354 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 357 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781999648 CA10474141 |
358 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414037318 rs1182075910 |
366 | M>K | No |
ClinGen TOPMed |
|
|
CA414037315 rs1569370721 |
366 | M>L | No |
ClinGen Ensembl |
|
|
CA414037341 rs1473452588 |
367 | A>V | No |
ClinGen TOPMed |
|
|
CA414037367 rs1255062436 |
369 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA414037369 rs1255062436 |
369 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10474146 rs782704817 |
373 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA333873622 rs200712003 |
373 | M>K | No |
ClinGen Ensembl |
|
|
CA414037440 rs1041663254 |
374 | F>I | No |
ClinGen TOPMed |
|
|
CA333873623 rs1041663254 |
374 | F>L | No |
ClinGen TOPMed |
|
|
rs1229173568 CA414037507 |
378 | Q>R | No |
ClinGen TOPMed |
No associated diseases with Q9UH62
1 regional properties for Q9UH62
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Signal transduction response regulator, receiver domain | 28 - 146 | IPR001789 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon cytoplasm | Any cytoplasm that is part of a axon. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| integral component of mitochondrial outer membrane | The component of the mitochondrial outer membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| axonal transport of mitochondrion | The directed movement of mitochondria along microtubules in nerve cell axons. |
| mitochondrion organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6P1M9 | ARMCX5 | Armadillo repeat-containing X-linked protein 5 | Homo sapiens (Human) | PR |
| Q3UZB0 | Armcx5 | Armadillo repeat-containing X-linked protein 5 | Mus musculus (Mouse) | PR |
| Q5U4C1 | Gprasp1 | G-protein coupled receptor-associated sorting protein 1 | Mus musculus (Mouse) | PR |
| Q8BUY8 | Gprasp2 | G-protein coupled receptor-associated sorting protein 2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGYARKVGWV | TAGLVIGAGA | CYCIYRLTRG | RKQNKEKMAE | GGSGDVDDAG | DCSGARYNDW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SDDDDDSNES | KSIVWYPPWA | RIGTEAGTRA | RARARARATR | ARRAVQKRAS | PNSDDTVLSP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QELQKVLCLV | EMSEKPYILE | AALIALGNNA | AYAFNRDIIR | DLGGLPIVAK | ILNTRDPIVK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EKALIVLNNL | SVNAENQRRL | KVYMNQVCDD | TITSRLNSSV | QLAGLRLLTN | MTVTNEYQHM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LANSISDFFR | LFSAGNEETK | LQVLKLLLNL | AENPAMTREL | LRAQVPSSLG | SLFNKKENKE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VILKLLVIFE | NINDNFKWEE | NEPTQNQFGE | GSLFFFLKEF | QVCADKVLGI | ESHHDFLVKV |
| 370 | |||||
| KVGKFMAKLA | EHMFPKSQE |