Q9UPC5
PR
Gene name |
GPR34 |
Protein name |
Probable G-protein coupled receptor 34 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2857 |
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
158 variants for Q9UPC5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1452844331 CA412994790 |
8 | M>T | No |
ClinGen gnomAD |
|
|
rs764448245 CA329247696 |
9 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA10390386 rs764448245 |
9 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10390388 rs763728630 |
16 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10390389 rs753492240 |
17 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs973745625 CA329247698 |
17 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253819535 CA412995097 |
23 | M>R | No |
ClinGen TOPMed |
|
|
CA10390391 rs6609158 |
24 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1121459 rs142652017 CA10390392 |
24 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142652017 CA412995102 |
24 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs6609158 CA329247699 |
24 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs755428921 CA10390393 |
29 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA412995143 rs1265198544 |
30 | S>N | No |
ClinGen TOPMed |
|
|
CA412995149 rs1325343385 |
31 | D>N | No |
ClinGen gnomAD |
|
|
CA412995162 rs1224681499 |
32 | Q>H | No |
ClinGen gnomAD |
|
|
rs771424808 CA10390396 |
33 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1318520004 CA412995167 |
33 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs771424808 CA10390395 |
33 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369375466 CA329247700 |
35 | Q>E | No |
ClinGen Ensembl |
|
|
rs1271015307 CA412995202 |
38 | S>L | No |
ClinGen gnomAD |
|
|
CA412995206 rs1237244388 |
39 | A>E | No |
ClinGen TOPMed |
|
|
rs1352379674 CA412995219 |
41 | P>R | No |
ClinGen TOPMed |
|
|
rs1365129902 CA412995251 |
46 | C>S | No |
ClinGen TOPMed |
|
|
CA329247702 rs921001634 |
47 | P>L | No |
ClinGen Ensembl |
|
|
CA10390399 rs771250027 |
56 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA329247704 rs932428738 |
58 | T>I | No |
ClinGen gnomAD |
|
|
CA10390402 rs771998614 |
63 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412995389 rs1419116759 |
67 | V>A | No |
ClinGen TOPMed |
|
|
CA329247705 rs201118748 |
67 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10390404 rs201118748 |
67 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 68 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776325867 CA10390406 |
70 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM188135 rs901033726 CA329247707 |
75 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA329247708 rs375417033 |
75 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1232572331 CA412995460 |
79 | F>L | No |
ClinGen gnomAD |
|
|
CA412995463 rs1291436068 |
79 | F>S | No |
ClinGen gnomAD |
|
|
CA10390408 rs751806720 |
82 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs750045503 CA10390409 |
83 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761720270 CA10390410 |
84 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412995617 rs1187414347 |
93 | L>Q | No |
ClinGen TOPMed |
|
|
CA10390412 rs767384358 |
94 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10390413 rs200776817 |
95 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187853238 CA412995652 |
96 | V>I | No |
ClinGen gnomAD |
|
|
rs903811098 CA329247710 |
97 | A>D | No |
ClinGen Ensembl |
|
|
rs1042307922 CA329247709 |
97 | A>T | No |
ClinGen Ensembl |
|
|
rs1280413460 CA412995892 |
114 | H>Y | No |
ClinGen TOPMed |
|
|
CA10390416 COSM3844718 rs757295507 |
115 | I>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10390418 rs746109158 |
122 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1006633242 CA329247712 |
136 | M>T | No |
ClinGen TOPMed |
|
|
rs1016302316 CA329247713 |
138 | M>T | No |
ClinGen TOPMed |
|
|
rs771945164 CA10390420 |
140 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360602288 CA412996081 |
141 | S>G | No |
ClinGen gnomAD |
|
|
rs1000860910 CA329247714 |
152 | R>C | No |
ClinGen TOPMed |
|
| TCGA novel | 156 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10390424 rs768784541 |
158 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA10390423 rs768784541 COSM1121467 |
158 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1682564 rs746916394 CA10390422 |
158 | R>W | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10390425 rs761332593 |
160 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs769217317 CA10390426 |
163 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412996233 rs1228637450 |
163 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 164 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10390427 rs772869981 |
166 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA412996250 rs1314965182 |
166 | I>V | No |
ClinGen gnomAD |
|
|
rs1488649072 CA412996268 |
169 | K>Q | No |
ClinGen gnomAD |
|
|
rs762559517 CA412996287 |
171 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762559517 CA10390428 |
171 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753126394 CA10390430 |
174 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA10390431 rs761156570 |
176 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA412996372 rs1250232113 |
178 | V>A | No |
ClinGen gnomAD |
|
|
rs764525670 CA10390432 |
179 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA412996404 rs1417774282 |
180 | M>I | No |
ClinGen gnomAD |
|
|
rs895214157 CA329247715 |
180 | M>K | No |
ClinGen Ensembl |
|
| TCGA novel | 180 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433488393 CA412996502 |
188 | T>A | No |
ClinGen gnomAD |
|
|
rs754303572 CA10390433 |
189 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1013685174 CA329247717 |
190 | I>F | No |
ClinGen Ensembl |
|
|
rs757321606 CA10390434 |
191 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 196 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412996635 rs1297575396 |
198 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412996673 rs1370898544 |
200 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778882293 CA10390435 |
206 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA329247718 rs780031918 |
207 | Y>D | No |
ClinGen Ensembl |
|
|
rs61734983 CA329247719 |
213 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 216 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329247720 rs753356228 |
216 | E>V | No |
ClinGen Ensembl |
|
|
rs867517761 CA329247721 |
217 | A>T | No |
ClinGen Ensembl |
|
|
CA10390440 rs768588322 |
226 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 227 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255000387 CA412997026 |
235 | I>F | No |
ClinGen TOPMed |
|
|
rs1204747050 CA412997044 |
238 | Y>H | No |
ClinGen TOPMed |
|
|
rs748054635 CA10390442 |
239 | I>T | No |
ClinGen ExAC |
|
|
CA10390443 rs374123381 |
243 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412997089 rs1180906188 |
244 | N>S | No |
ClinGen gnomAD |
|
|
rs1602483815 CA412997109 |
247 | R>M | No |
ClinGen Ensembl |
|
| TCGA novel | 251 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 251 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772633937 CA10390444 |
252 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 255 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 256 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367957485 CA10390447 |
262 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10390448 rs199627426 |
264 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 265 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412997286 rs1169636234 COSM1121468 |
266 | R>H | Variant assessed as Somatic; 0.0001981 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA412997288 rs1169636234 |
266 | R>P | No |
ClinGen gnomAD |
|
|
rs777149127 CA10390450 |
273 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 277 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140774675 CA10390451 |
280 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA412997617 rs1273337252 |
286 | R>* | No |
ClinGen gnomAD |
|
|
RCV000224283 CA10390455 rs61746390 |
295 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs751837594 CA10390457 |
300 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs922406064 CA329247724 |
302 | K>E | No |
ClinGen TOPMed |
|
|
CA412997971 rs1200857124 |
302 | K>R | No |
ClinGen gnomAD |
|
|
rs1200857124 CA412997969 |
302 | K>T | No |
ClinGen gnomAD |
|
|
CA329247725 rs5918228 |
303 | E>K | No |
ClinGen Ensembl |
|
|
rs5918228 CA329247726 |
303 | E>Q | No |
ClinGen Ensembl |
|
|
rs1195100415 CA412998016 |
304 | I>T | No |
ClinGen gnomAD |
|
|
CA412998111 rs1423792493 |
308 | T>I | No |
ClinGen TOPMed |
|
|
rs1254827877 CA412998114 |
309 | N>H | No |
ClinGen TOPMed |
|
| TCGA novel | 314 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA329247728 rs141775756 |
315 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141775756 CA10390458 |
315 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10390460 rs748084056 |
317 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478038532 CA412998356 |
320 | S>R | No |
ClinGen gnomAD |
|
|
rs777323249 CA10390462 |
323 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 324 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10390463 rs748736890 |
325 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329247729 rs749428607 |
326 | M>I | No |
ClinGen Ensembl |
|
|
rs1046933130 CA329247730 |
328 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA412998513 rs1171359788 |
331 | S>A | No |
ClinGen gnomAD |
|
|
rs1569404464 CA412998565 |
335 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1393417949 CA412998567 COSM2156761 |
335 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs770431124 CA10390464 |
337 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA412998629 rs1569404487 |
344 | R>G | No |
ClinGen Ensembl |
|
|
CA10390466 rs745544205 |
344 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA412998636 rs1269693556 |
345 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs374768571 CA10390467 |
347 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1307779698 CA412998658 |
348 | G>D | No |
ClinGen TOPMed |
|
|
rs1220966344 CA412998656 |
348 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1220966344 CA412998655 |
348 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA412998678 rs776900804 |
351 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10390469 rs776900804 |
351 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs762378642 CA10390470 |
352 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA10390471 rs765726152 |
353 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 357 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs879011096 CA329247731 |
358 | E>D | No |
ClinGen Ensembl |
|
|
CA412998733 rs1214399331 |
359 | F>Y | No |
ClinGen gnomAD |
|
|
rs1489008378 CA412998762 |
363 | Y>C | No |
ClinGen gnomAD |
|
|
CA412998771 rs1374863640 |
364 | S>F | No |
ClinGen TOPMed |
|
|
CA412998783 rs1330965105 |
366 | H>Q | No |
ClinGen TOPMed |
|
|
rs766586337 CA10390474 |
367 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10390475 rs751806897 |
369 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA412998814 rs1416165884 |
371 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10390478 rs752491682 |
375 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs755950157 CA10390479 |
375 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs749253021 CA10390481 |
377 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs756709629 CA10390482 |
378 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs753960063 CA10390484 |
381 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with Q9UPC5
1 regional properties for Q9UPC5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 71 - 327 | IPR017452 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| G protein-coupled purinergic nucleotide receptor activity | Combining with a purine nucleotide and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| G protein-coupled receptor activity | Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BPV8 | P2RY13 | P2Y purinoceptor 13 | Homo sapiens (Human) | PR |
| Q9H244 | P2RY12 | P2Y purinoceptor 12 | Homo sapiens (Human) | PR |
| Q9CPV9 | P2ry12 | P2Y purinoceptor 12 | Mus musculus (Mouse) | PR |
| Q9D8I2 | P2yr13 | P2Y purinoceptor 13 | Mus musculus (Mouse) | PR |
| Q9EPX4 | P2ry12 | P2Y purinoceptor 12 | Rattus norvegicus (Rat) | PR |
| Q6GUG4 | P2ry13 | P2Y purinoceptor 13 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRSHTITMTT | TSVSSWPYSS | HRMRFITNHS | DQPPQNFSAT | PNVTTCPMDE | KLLSTVLTTS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YSVIFIVGLV | GNIIALYVFL | GIHRKRNSIQ | IYLLNVAIAD | LLLIFCLPFR | IMYHINQNKW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TLGVILCKVV | GTLFYMNMYI | SIILLGFISL | DRYIKINRSI | QQRKAITTKQ | SIYVCCIVWM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LALGGFLTMI | ILTLKKGGHN | STMCFHYRDK | HNAKGEAIFN | FILVVMFWLI | FLLIILSYIK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IGKNLLRISK | RRSKFPNSGK | YATTARNSFI | VLIIFTICFV | PYHAFRFIYI | SSQLNVSSCY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| WKEIVHKTNE | IMLVLSSFNS | CLDPVMYFLM | SSNIRKIMCQ | LLFRRFQGEP | SRSESTSEFK |
| 370 | 380 | ||||
| PGYSLHDTSV | AVKIQSSSKS | T |