Gene Gene information from NCBI Gene database.
Entrez ID 1314
Gene name Coat protein complex I subunit alpha
Gene symbol COPA
Synonyms (NCBI Gene)
AIAISDAILJKHEP-COPalpha-COP
Chromosome 1
Chromosome location 1q23.2
Summary 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
SNPs SNP information provided by dbSNP.
5
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
miRNA miRNA information provided by mirtarbase database.
327
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0003729 Function MRNA binding IEA
GO:0005179 Function Hormone activity IEA
GO:0005198 Function Structural molecule activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601924 2230 ENSG00000122218
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Uniformly expressed in a wide range of adult and fetal tissues. Xenin is found in gastric, duodenal and jejunal mucosa. Circulates in the blood. Seems to be confined to specific endocrine cells.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
723
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoimmune interstitial lung disease-arthritis syndrome Likely pathogenic; Pathogenic rs2101847465, rs794727993, rs794727995, rs864309710, rs2525368687, rs1557868211 RCV002052128
RCV000180776
RCV000180778
RCV000203296
RCV003990540
RCV000700608
See cases Likely pathogenic; Pathogenic rs794727993 RCV003156081
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs75190422 RCV005897201
Autosomal dominant Alport syndrome Uncertain significance rs1474470074 RCV005863874
Cervical cancer Benign rs75190422 RCV005897202
Cholangiocarcinoma Likely benign rs375429812 RCV005900377
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Associate 25894502
Autoimmune Diseases Associate 25894502
Bronchiolitis Obliterans Associate 35578185
Carcinogenesis Associate 35769782
Carcinoma Non Small Cell Lung Associate 34299277
Carrington syndrome Associate 36333696
Colorectal Neoplasms Associate 28161934
Cough Associate 30385646
Cryoglobulinemia Associate 39620212
Cryoglobulinemia Familial Mixed Associate 39620212