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

ICA1
Identifiers
AliasesICA1, ICA69, ICAp69, islet cell autoantigen 1
External IDsOMIM: 147625; MGI: 96391; HomoloGene: 7777; GeneCards: ICA1; OMA:ICA1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001136020
NM_001276478
NM_004968
NM_022307
NM_022308

NM_001252266
NM_010492

RefSeq (protein)

NP_001239195
NP_034622

Location (UCSC)n/aChr 6: 8.63 – 8.78 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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]

References

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000062995Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Miyazaki I, Gaedigk R, Hui MF, Cheung RK, Morkowski J, Rajotte RV, Dosch HM (Nov 1994). "Cloning of human and rat p69 cDNA, a candidate autoimmune target in type 1 diabetes". Biochim Biophys Acta. 1227 (1–2): 101–4. doi:10.1016/0925-4439(94)90113-9. PMID 7918678.
  5. ^ Mally MI, Cirulli V, Hayek A, Otonkoski T (Sep 1996). "ICA69 is expressed equally in the human endocrine and exocrine pancreas". Diabetologia. 39 (4): 474–80. doi:10.1007/BF00400680. PMID 8777998. S2CID 23133011.
  6. ^ a b "Entrez Gene: ICA1 islet cell autoantigen 1, 69kDa".

Further reading

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