ICA1

From Wikipedia, the free encyclopedia

Islet cell autoantigen 1, 69kDa

Identifiers

ICA1; ICA69; ICAp69

External IDs

OMIM: 147625 MGI: 96391 HomoloGene: 7777

Gene ontology
Molecular Function:	• molecular_function
Cellular Component:	• Golgi membrane • cytoplasm • cytosol • membrane • secretory granule membrane • synaptic vesicle membrane
Biological Process:	• neurotransmitter transport • regulation of neurotransmitter secretion

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004968 (mRNA)
NP_004959 (protein)

NM_010492 (mRNA)
NP_034622 (protein)

Location

Chr 7: 8.12 - 8.27 Mb

Chr 6: 8.58 - 8.73 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: ICA1 islet cell autoantigen 1, 69kDa.

[edit] 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.