ICA1

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Islet cell autoantigen 1, 69kDa
Identifiers
Symbols ICA1; ICA69; ICAp69
External IDs OMIM147625 MGI96391 HomoloGene7777 GeneCards: ICA1 Gene
RNA expression pattern
PBB GE ICA1 207949 s at tn.png
PBB GE ICA1 204002 s at tn.png
PBB GE ICA1 210547 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 3382 15893
Ensembl ENSG00000003147 ENSMUSG00000062995
UniProt Q05084 P97411
RefSeq (mRNA) NM_001136020.1 NM_010492.3
RefSeq (protein) NP_001129492.1 NP_034622.3
Location (UCSC) Chr 7:
8.15 – 8.3 Mb
Chr 6:
8.58 – 8.73 Mb
PubMed search [1] [2]

Islet cell autoantigen 1 is a protein that in humans is encoded by the ICA1 gene.[1][2][3]

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 Sjogren's syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.[3]

[edit] References

  1. ^ 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. PMID 7918678. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: ICA1 islet cell autoantigen 1, 69kDa". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3382. 

[edit] Further reading

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