ICA1
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Islet cell autoantigen 1, 69kDa | |||||||||||
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Identifiers | |||||||||||
Symbols | ICA1 ; ICA69; ICAp69 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 7777 | ||||||||||
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RNA expression pattern | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Islet cell autoantigen 1, 69kDa, also known as ICA1, is a human gene.[1]
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.[1]
References
Further reading
- Nepom GT (1996). "Glutamic acid decarboxylase and other autoantigens in IDDM". Curr. Opin. Immunol. 7 (6): 825–30. PMID 8679127.
- Thai AC, Ng WY, Lui KF, Cheah JS (1996). "Islet cell and thyroid autoimmunity in Chinese patients with IDDM". Diabetes Care. 18 (4): 586–7. PMID 7497880.
- Martin S, Kardorf J, Schulte B; et al. (1995). "Autoantibodies to the islet antigen ICA69 occur in IDDM and in rheumatoid arthritis". Diabetologia. 38 (3): 351–5. PMID 7758883.
- Miyazaki I, Cheung RK, Gaedigk R; et al. (1995). "T cell activation and anergy to islet cell antigen in type I diabetes". J. Immunol. 154 (3): 1461–9. PMID 7822811.
- Lampasona V, Ferrari M, Bosi E; et al. (1995). "Sera from patients with IDDM and healthy individuals have antibodies to ICA69 on western blots but do not immunoprecipitate liquid phase antigen". J. Autoimmun. 7 (5): 665–74. doi:10.1006/jaut.1994.1051. PMID 7840858.
- Miyazaki I, Gaedigk R, Hui MF; et al. (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.
- Gaedigk R, Duncan AM, Miyazaki I; et al. (1994). "ICA1 encoding p69, a protein linked to the development of type 1 diabetes, maps to human chromosome 7p22". Cytogenet. Cell Genet. 66 (4): 274–6. PMID 8162706.
- Pietropaolo M, Castaño L, Babu S; et al. (1993). "Islet cell autoantigen 69 kD (ICA69). Molecular cloning and characterization of a novel diabetes-associated autoantigen". J. Clin. Invest. 92 (1): 359–71. PMID 8326004.
- Karges W, Pietropaolo M, Ackerley CA, Dosch HM (1996). "Gene expression of islet cell antigen p69 in human, mouse, and rat". Diabetes. 45 (4): 513–21. PMID 8603775.
- Mally MI, Cirulli V, Hayek A, Otonkoski T (1996). "ICA69 is expressed equally in the human endocrine and exocrine pancreas". Diabetologia. 39 (4): 474–80. PMID 8777998.
- Martin S, Lampasona V, Dosch M, Pietropaolo M (1996). "Islet cell autoantigen 69 antibodies in IDDM". Diabetologia. 39 (6): 747. PMID 8781774.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.
- Gaedigk R, Karges W, Hui MF; et al. (1997). "Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity". Genomics. 38 (3): 382–91. doi:10.1006/geno.1996.0641. PMID 8975715.
- Stassi G, Schloot N, Pietropaolo M (1997). "Islet cell autoantigen 69 kDa (ICA69) is preferentially expressed in the human islets of Langerhans than exocrine pancreas". Diabetologia. 40 (1): 120–2. PMID 9028728.
- Rønningen KS, Atrazhev A, Luo L; et al. (1998). "Anti-BSA antibodies do not cross-react with the 69-kDa islet cell autoantigen ICA69". J. Autoimmun. 11 (3): 223–31. doi:10.1006/jaut.1998.0199. PMID 9693970.
- Kerokoski P, Ilonen J, Gaedigk R; et al. (1999). "Production of the islet cell antigen ICA69 (p69) with baculovirus expression system: analysis with a solid-phase time-resolved fluorescence method of sera from patients with IDDM and rheumatoid arthritis". Autoimmunity. 29 (4): 281–9. PMID 10433084.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. PMID 11076863.
- Winer S, Astsaturov I, Cheung R; et al. (2002). "Primary Sjögren's syndrome and deficiency of ICA69". Lancet. 360 (9339): 1063–9. PMID 12383988.
- Friday RP, Pietropaolo SL, Profozich J; et al. (2003). "Alternative core promoters regulate tissue-specific transcription from the autoimmune diabetes-related ICA1 (ICA69) gene locus". J. Biol. Chem. 278 (2): 853–63. doi:10.1074/jbc.M210175200. PMID 12409289.
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