• Gene id: 1314

Gene Summary

• Gene Symbol: COPA   Gene   UCSC   Ensembl
• Aliases: AILJK, HEP-COP, alpha-COP
• Gene name: COPI coat complex subunit alpha
• Alternate names: coatomer subunit alpha, alpha coat protein, coatomer protein complex subunit alpha, proxenin, xenin,
• Gene location: 1q23.2 (160343249: 160288593)     Exons: 33     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 601924

SNPs

rs121918300

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.37888306T>A
NC_000007.14   g.37888306T>C
NC_000007.13   g.37927908T>A
NC_000007.13   g.37927908T>C
NG_015893.1   g.44710T>A
NG_015893.1   g.44710T>C
NM_016616.4   c.1277T>A
NM_016616.4   c.1277T>C
NM_016616.5   c.1277T>A
NM_016616.5   c.1277T>C
NP_05770  

rs117149381

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.37862001C>T
NC_000007.13   g.37901603C>T
NG_015893.1   g.18405C>T|SEQ=[C/T]|GENE=NME8

Protein Summary

• Protein general information: P53621  
  • Name: Coatomer subunit alpha (Alpha coat protein) (Alpha COP) (HEP COP) (HEPCOP) [Cleaved into: Xenin (Xenopsin related peptide); Proxenin]
  • Length: 1224  
  • Mass: 138346
  • 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:

  MLTKFETKSARVKGLSFHPKRPWILTSLHNGVIQLWDYRMCTLIDKFDEHDGPVRGIDFHKQQPLFVSGGDDYKI
  KVWNYKLRRCLFTLLGHLDYIRTTFFHHEYPWILSASDDQTIRVWNWQSRTCVCVLTGHNHYVMCAQFHPTEDLV
  VSASLDQTVRVWDISGLRKKNLSPGAVESDVRGITGVDLFGTTDAVVKHVLEGHDRGVNWAAFHPTMPLIVSGAD
  DRQVKIWRMNESKAWEVDTCRGHYNNVSCAVFHPRQELILSNSEDKSIRVWDMSKRTGVQTFRRDHDRFWVLAAH
  PNLNLFAAGHDGGMIVFKLERERPAYAVHGNMLHYVKDRFLRQLDFNSSKDVAVMQLRSGSKFPVFNMSYNPAEN
  AVLLCTRASNLENSTYDLYTIPKDADSQNPDAPEGKRSSGLTAVWVARNRFAVLDRMHSLLIKNLKNEITKKVQV
  PNCDEIFYAGTGNLLLRDADSITLFDVQQKRTLASVKISKVKYVIWSADMSHVALLAKHAIVICNRKLDALCNIH
  ENIRVKSGAWDESGVFIYTTSNHIKYAVTTGDHGIIRTLDLPIYVTRVKGNNVYCLDRECRPRVLTIDPTEFKFK
  LALINRKYDEVLHMVRNAKLVGQSIIAYLQKKGYPEVALHFVKDEKTRFSLALECGNIEIALEAAKALDDKNCWE
  KLGEVALLQGNHQIVEMCYQRTKNFDKLSFLYLITGNLEKLRKMMKIAEIRKDMSGHYQNALYLGDVSERVRILK
  NCGQKSLAYLTAATHGLDEEAESLKETFDPEKETIPDIDPNAKLLQPPAPIMPLDTNWPLLTVSKGFFEGTIASK
  GKGGALAADIDIDTVGTEGWGEDAELQLDEDGFVEATEGLGDDALGKGQEEGGGWDVEEDLELPPELDISPGAAG
  GAEDGFFVPPTKGTSPTQIWCNNSQLPVDHILAGSFETAMRLLHDQVGVIQFGPYKQLFLQTYARGRTTYQALPC
  LPSMYGYPNRNWKDAGLKNGVPAVGLKLNDLIQRLQLCYQLTTVGKFEEAVEKFRSILLSVPLLVVDNKQEIAEA
  QQLITICREYIVGLSVETERKKLPKETLEQQKRICEMAAYFTHSNLQPVHMILVLRTALNLFFKLKNFKTAATFA
  RRLLELGPKPEVAQQTRKILSACEKNPTDAYQLNYDMHNPFDICAASYRPIYRGKPVEKCPLSGACYSPEFKGQI
  CRVTTVTEIGKDVIGLRISPLQFR

• Structural information:
  • Interpro: IPR024977  IPR016391  IPR010714  IPR006692  IPR020472   IPR011048  IPR015943  IPR001680  IPR019775  IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • PDB: 6PBG 6TZT 6U3V
  • PDBsum: 6PBG 6TZT 6U3V
  • STRING: ENSP00000357048
• Other Databases: GeneCards:  COPA  Malacards:  COPA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006886	intracellular protein transport	IBA	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IBA	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA	biological process
GO:0030126	COPI vesicle coat	IBA	cellular component
GO:0006891	intra-Golgi vesicle-mediated transport	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005198	structural molecule activity	IEA	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0030126	COPI vesicle coat	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005179	hormone activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030157	pancreatic juice secretion	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0030426	growth cone	IDA	cellular component
GO:0030126	COPI vesicle coat	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS	biological process
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0099612	protein localization to axon	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0003729	mRNA binding	IEA	molecular function
GO:1902463	protein localization to cell leading edge	IEA	biological process
GO:0030426	growth cone	IEA	cellular component
GO:0030137	COPI-coated vesicle	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0030663	COPI-coated vesicle membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0030126	COPI vesicle coat	ISS	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)