ICA1

Islet cell autoantigen 1 is a protein that in humans is encoded by the ICA1 gene.^[4][5][6]

AliasesICA1, ICA69, ICAp69, islet cell autoantigen 1

External IDsOMIM: 147625; MGI: 96391; HomoloGene: 7777; GeneCards: ICA1; OMA:ICA1 - orthologs

Chr.Chromosome 6 (mouse)^[1]

End8,778,488 bp^[1]

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ICA1
Identifiers
Aliases	ICA1, ICA69, ICAp69, islet cell autoantigen 1
External IDs	OMIM: 147625; MGI: 96391; HomoloGene: 7777; GeneCards: ICA1; OMA:ICA1 - orthologs
Gene location (Mouse) Chr. Chromosome 6 (mouse)[1] Band 6 A1|6 4.38 cM Start 8,630,527 bp[1] End 8,778,488 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) n/a Top expressed in spermatid saccule seminiferous tubule lacrimal gland islet of Langerhans zygote submandibular gland otic vesicle seminal vesicula parotid gland BioGPS More reference expression data
Gene ontology Molecular function protein binding protein domain specific binding molecular function Cellular component Golgi membrane cell junction transport vesicle membrane synapse synaptic vesicle membrane secretory granule membrane membrane cytoplasmic vesicle cytoplasm Golgi apparatus cytosol intracellular membrane-bounded organelle Biological process neurotransmitter transport regulation of insulin secretion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3382 15893 Ensembl ENSG00000003147 ENSMUSG00000062995 UniProt Q05084 P97411 RefSeq (mRNA) NM_001136020 NM_001276478 NM_004968 NM_022307 NM_022308 NM_001252266 NM_010492 RefSeq (protein) NP_001129492 NP_001263407 NP_004959 NP_071682 NP_001337748 NP_001337749 NP_001337750 NP_001337752 NP_001337753 NP_001337754 NP_001337755 NP_001337756 NP_001337757 NP_001337758 NP_001337759 NP_001337760 NP_001337761 NP_001337762 NP_001337763 NP_001337764 NP_001337765 NP_001337766 NP_001337767 NP_001239195 NP_034622 Location (UCSC) n/a Chr 6: 8.63 – 8.78 Mb PubMed search [2] [3]
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This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjögren's syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.^[6]