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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autoimmune interstitial lung disease-arthritis syndrome Likely pathogenic; Pathogenic rs2101847465, rs794727993, rs794727995, rs864309710, rs2525368687, rs1557868211 RCV002052128
RCV000180776
RCV000180778
RCV000203296
RCV003990540
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Arthritis BEFREE 25894502, 27224741, 31666386
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis Arthritis CTD_human_DG 25894502
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis Arthritis Pubtator 25894502 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis Arthritis HPO_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune Diseases CTD_human_DG 25894502
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune disease Pubtator 25894502 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune interstitial lung disease-arthritis syndrome Autoimmune Interstitial Lung Disease-Arthritis Syndrome Orphanet
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE Autoimmune Interstitial Lung, Joint, And Kidney Disease ORPHANET_DG 25894502
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE Autoimmune Interstitial Lung, Joint, And Kidney Disease UNIPROT_DG 25894502
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE Autoimmune Interstitial Lung, Joint, And Kidney Disease CLINVAR_DG 25894502
★☆☆☆☆
Found in Text Mining only