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)
End	8,778,488 bp
RNA expression pattern
	n/a
	Top expressed in
	spermatid; ; saccule; ; seminiferous tubule; ; lacrimal gland; ; islet of Langerhans; ; zygote; ; submandibular gland; ; otic vesicle; ; seminal vesicula; ; parotid gland;
	; ; ; ;
	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
	3382
	15893
	ENSG00000003147
	ENSMUSG00000062995
	Q05084
	P97411
	NM_001136020; NM_001276478; NM_004968; NM_022307; NM_022308
	NM_001252266; NM_010492
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
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000062995 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: ICA1 islet cell autoantigen 1, 69kDa".

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.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

[refGRCm38Ensembl-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.

[pmid7918678-4] 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.

[pmid8777998-5] 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.

[entrez-6] "Entrez Gene: ICA1 islet cell autoantigen 1, 69kDa".

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References

Further reading