Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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57120
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Golgi associated PDZ and coiled-coil motif containing |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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GOPC |
Synonyms (NCBI Gene)
Gene synonyms aliases
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CAL, FIG, GOPC1, PIST, dJ94G16.2 |
Chromosome
Chromosome number
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6 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6q22.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are i |
UniProt ID |
Q9HD26
|
Protein name |
Golgi-associated PDZ and coiled-coil motif-containing protein (CFTR-associated ligand) (Fused in glioblastoma) (PDZ protein interacting specifically with TC10) (PIST) |
Protein function |
Plays a role in intracellular protein trafficking and degradation (PubMed:11707463, PubMed:14570915, PubMed:15358775). May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels (By |
PDB |
2DC2
,
2LOB
,
4E34
,
4E35
,
4JOE
,
4JOF
,
4JOG
,
4JOH
,
4JOJ
,
4JOK
,
4JOP
,
4JOR
,
4K6Y
,
4K72
,
4K75
,
4K76
,
4K78
,
4NMO
,
4NMP
,
4NMQ
,
4NMR
,
4NMS
,
4NMT
,
4NMV
,
4Q6H
,
4Q6S
,
5IC3
,
5K4F
,
6OV7
,
6V84
,
6XNJ
,
7JZO
,
7JZP
,
7JZQ
,
7JZR
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00595
|
PDZ |
288 → 368 |
PDZ domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11162552, ECO:0000269|PubMed:11384996, ECO:0000269|PubMed:11707463}. |
Sequence |
MSAGGPCPAAAGGGPGGASCSVGAPGGVSMFRWLEVLEKEFDKAFVDVDLLLGEIDPDQA DITYEGRQKMTSLSSCFAQLCHKAQSVSQINHKLEAQLVDLKSELTETQAEKVVLEKEVH DQLLQLHSIQLQLHAKTGQSADSGTIKAKLSGPSVEELERELEANKKEKMKEAQLEAEVK LLRKENEALRRHIAVLQAEVYGARLAAKYLDKELAGRVQQIQLLGRDMKGPAHDKLWNQL EAEIHLHRHKTVIRACRGRNDLKRPMQAPPGHDQDSLKKSQGVGPIRKVLLLKEDHEGLG ISITGGKEHGVPILISEIHPGQPADRCGGLHVGDAILAVNGVNLRDTKHKEAVTILSQQR GEIEFEVVYVAPEVDSDDENVEYEDESGHRYRLYLDELEGGGNPGASCKDTSGEIKVLQG FNKKAVTDTHENGDLGTASETPLDDGASKLDDLHTLYHKKSY
|
|
Sequence length |
462 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Atrial fibrillation |
Atrial Fibrillation |
rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 View all (6 more) |
29892015 |
Male infertility |
Male infertility due to globozoospermia |
rs554675432, rs9332971, rs397507505, rs797045116, rs748618094, rs781431741, rs1555979575, rs377581367 |
|
Melanoma |
melanoma |
rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 View all (64 more) |
22535842 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
|
29892015 |
ClinVar |
|
|