Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
1314 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Coat protein complex I subunit alpha |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
COPA |
SynonymsGene synonyms aliases
|
AIAISD, AILJK, HEP-COP, alpha-COP |
ChromosomeChromosome number
|
1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1q23.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex k |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs794727993 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs794727994 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs794727995 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs864309710 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
rs1557868211 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
P53621 |
Protein name |
Coatomer subunit alpha (Alpha-coat protein) (Alpha-COP) (HEP-COP) (HEPCOP) [Cleaved into: Xenin (Xenopsin-related peptide); Proxenin] |
Protein function |
The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi ne |
PDB |
6PBG
,
6TZT
,
6U3V
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00400 |
WD40 |
41 → 79 |
WD domain, G-beta repeat |
Repeat |
PF00400 |
WD40 |
83 → 121 |
WD domain, G-beta repeat |
Repeat |
PF00400 |
WD40 |
125 → 163 |
WD domain, G-beta repeat |
Repeat |
PF12894 |
ANAPC4_WD40 |
211 → 302 |
Anaphase-promoting complex subunit 4 WD40 domain |
Repeat |
PF04053 |
Coatomer_WDAD |
338 → 767 |
Coatomer WD associated region |
Family |
PF06957 |
COPI_C |
815 → 1224 |
Coatomer (COPI) alpha subunit C-terminus |
Family |
|
Sequence |
|
Sequence length |
1224 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Arthritis |
Arthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
25894502 |
Autoimmune diseases |
Autoimmune Diseases |
rs41285370, rs869025224 |
25894502 |
Autoimmune interstitial lung disease-arthritis syndrome |
Autoimmune interstitial lung disease-arthritis syndrome |
rs794727993, rs794727995, rs864309710, rs1557868211 |
|
Autoinflammatory disease |
Autoinflammatory disorder |
rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924 |
29137621 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Autoimmune interstitial lung, joint, and kidney disease |
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE |
|
25894502, 29137621 |
Lung diseases |
Lung Diseases, Interstitial |
|
25894502 |
Polyarthritis |
Polyarthritis |
|
25894502 |
|