GediPNet logo

COPA (coat protein complex I subunit alpha)

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.
miRTarBase ID miRNA Experiments Reference
MIRT017123 hsa-miR-335-5p Microarray 18185580
MIRT047710 hsa-miR-10a-5p CLASH 23622248
MIRT046345 hsa-miR-23b-3p CLASH 23622248
MIRT042473 hsa-miR-423-3p CLASH 23622248
MIRT041376 hsa-miR-193b-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005179 Function Hormone activity IEA
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 30352685
GO:0005615 Component Extracellular space IDA 1429581
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
MLTKFETKSARVKGLSFHPKRPWILTSLHNGVIQLWDYRMCTLIDKFDEHDGPVRGIDFH
KQQPLFVSGGDDYKIKVWN
YKLRRCLFTLLGHLDYIRTTFFHHEYPWILSASDDQTIRVW
N
WQSRTCVCVLTGHNHYVMCAQFHPTEDLVVSASLDQTVRVWDISGLRKKNLSPGAVESD
VRGITGVDLFGTTDAVVKHVLEGHDRGVNWAAFHPTMPLIVSGADDRQVKIWRMNESKAW
EVDTCRGHYNNVSCAVFHPRQELILSNSEDKSIRVWDMSKRTGVQTFRRDHDRFWVLAAH
PN
LNLFAAGHDGGMIVFKLERERPAYAVHGNMLHYVKDRFLRQLDFNSSKDVAVMQLRSG
SKFPVFNMSYNPAENAVLLCTRASNLENSTYDLYTIPKDADSQNPDAPEGKRSSGLTAVW
VARNRFAVLDRMHSLLIKNLKNEITKKVQVPNCDEIFYAGTGNLLLRDADSITLFDVQQK
RTLASVKISKVKYVIWSADMSHVALLAKHAIVICNRKLDALCNIHENIRVKSGAWDESGV
FIYTTSNHIKYAVTTGDHGIIRTLDLPIYVTRVKGNNVYCLDRECRPRVLTIDPTEFKFK
LALINRKYDEVLHMVRNAKLVGQSIIAYLQKKGYPEVALHFVKDEKTRFSLALECGNIEI
ALEAAKALDDKNCWEKLGEVALLQGNHQIVEMCYQRTKNFDKLSFLYLITGNLEKLRKMM
KIAEIRKDMSGHYQNALYLGDVSERVRILKNCGQKSLAYLTAATHGL
DEEAESLKETFDP
EKETIPDIDPNAKLLQPPAPIMPLDTNWPLLTVSKGFFEGTIASKGKGGALAADIDIDTV
GTEGWGEDAELQLDEDGFVEATEGLGDDALGKGQEEGGGWDVEEDLELPPELDISPGAAG
GAEDGFFVPPTKGTSPTQIWCNNSQLPVDHILAGSFETAMRLLHDQVGVIQFGPYKQLFL
QTYARGRTTYQALPCLPSMYGYPNRNWKDAGLKNGVPAVGLKLNDLIQRLQLCYQLTTVG
KFEEAVEKFRSILLSVPLLVVDNKQEIAEAQQLITICREYIVGLSVETERKKLPKETLEQ
QKRICEMAAYFTHSNLQPVHMILVLRTALNLFFKLKNFKTAATFARRLLELGPKPEVAQQ
TRKILSACEKNPTDAYQLNYDMHNPFDICAASYRPIYRGKPVEKCPLSGACYSPEFKGQI
CRVTTVTEIGKDVIGLRISPLQFR
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.
 
Reactome
    COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
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

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412