ICA1

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

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

1. GRCm38: Ensembl release 89: ENSMUSG00000062995 – Ensembl, 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. "Entrez Gene: ICA1 islet cell autoantigen 1, 69kDa".

Further reading

• Nepom GT (1996). "Glutamic acid decarboxylase and other autoantigens in IDDM". Curr. Opin. Immunol. 7 (6): 825–30. doi:10.1016/0952-7915(95)80055-7. 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. doi:10.2337/diacare.18.4.586. PMID   7497880. S2CID   46506673.
• Martin S, Kardorf J, Schulte B, Lampeter EF, Gries FA, Melchers I, Wagner R, Bertrams J, Roep BO (1995). "Autoantibodies to the islet antigen ICA69 occur in IDDM and in rheumatoid arthritis". Diabetologia. 38 (3): 351–5. doi: 10.1007/BF00400641 . PMID   7758883.
• Miyazaki I, Cheung RK, Gaedigk R, Hui MF, Van Der Meulen J, Rajotte RV, Dosch HM (1995). "T cell activation and anergy to islet cell antigen in type I diabetes". J. Immunol. 154 (3): 1461–9. doi: 10.4049/jimmunol.154.3.1461 . PMID   7822811.
• Lampasona V, Ferrari M, Bosi E, Pastore MR, Bingley PJ, Bonifacio E (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.
• Gaedigk R, Duncan AM, Miyazaki I, Robinson B, Dosch HM (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. doi:10.1159/000133711. PMID   8162706.
• Pietropaolo M, Castaño L, Babu S, Buelow R, Kuo YL, Martin S, Martin A, Powers AC, Prochazka M (1993). "Islet cell autoantigen 69 kD (ICA69). Molecular cloning and characterization of a novel diabetes-associated autoantigen". J. Clin. Invest. 92 (1): 359–71. doi:10.1172/JCI116574. PMC   293615 . 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. doi:10.2337/diabetes.45.4.513. PMID   8603775.
• Martin S, Lampasona V, Dosch M, Pietropaolo M (1996). "Islet cell autoantigen 69 antibodies in IDDM". Diabetologia. 39 (6): 747. doi: 10.1007/BF00418550 . PMID   8781774.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Gaedigk R, Karges W, Hui MF, Scherer SW, Dosch HM (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, Luo C, Smith DK, Korbutt G, Rajotte RV, Elliott JF (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, Dosch HM, Knip M, Hakala M, Hinkkanene A (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. doi:10.3109/08916939908994748. PMID   10433084.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Winer S, Astsaturov I, Cheung R, Tsui H, Song A, Gaedigk R, Winer D, Sampson A, McKerlie C (2002). "Primary Sjögren's syndrome and deficiency of ICA69". Lancet. 360 (9339): 1063–9. doi:10.1016/S0140-6736(02)11144-5. PMID   12383988. S2CID   22039999.
• Friday RP, Pietropaolo SL, Profozich J, Trucco M, Pietropaolo M (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.