ICA1 explained

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

Further reading

• Nepom GT . Glutamic acid decarboxylase and other autoantigens in IDDM . Curr. Opin. Immunol. . 7 . 6 . 825–30 . 1996 . 8679127 . 10.1016/0952-7915(95)80055-7 .
• Thai AC, Ng WY, Lui KF, Cheah JS . Islet cell and thyroid autoimmunity in Chinese patients with IDDM . Diabetes Care . 18 . 4 . 586–7 . 1996 . 7497880 . 10.2337/diacare.18.4.586 . 46506673 .
• Martin S . Autoantibodies to the islet antigen ICA69 occur in IDDM and in rheumatoid arthritis . Diabetologia . 38 . 3 . 351–5 . 1995 . 7758883 . 10.1007/BF00400641 . Kardorf J . Schulte B . Lampeter . E. F. . Gries . F. A. . Melchers . I. . Wagner . R. . Bertrams . J. . Roep . B. O. . free .
• Miyazaki I . T cell activation and anergy to islet cell antigen in type I diabetes . J. Immunol. . 154 . 3 . 1461–9 . 1995 . 7822811 . Cheung RK . Gaedigk R . Hui . MF . Van Der Meulen . J . Rajotte . RV . Dosch . HM . 10.4049/jimmunol.154.3.1461 . free .
• Lampasona V . 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 . 1995 . 7840858 . 10.1006/jaut.1994.1051 . Ferrari M . Bosi E . Pastore . Matteo Rocco . Bingley . Penelope J. . Bonifacio . Ezio .
• Gaedigk R . 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 . 1994 . 8162706 . 10.1159/000133711 . Duncan AM . Miyazaki I . Robinson . B.H. . Dosch . H.-M. .
• Pietropaolo M . Islet cell autoantigen 69 kD (ICA69). Molecular cloning and characterization of a novel diabetes-associated autoantigen . J. Clin. Invest. . 92 . 1 . 359–71 . 1993 . 8326004 . 10.1172/JCI116574 . 293615 . Castaño L . Babu S . Buelow . R . Kuo . Y L . Martin . S . Martin . A . Powers . A C . Prochazka . M .
• Karges W, Pietropaolo M, Ackerley CA, Dosch HM . Gene expression of islet cell antigen p69 in human, mouse, and rat . Diabetes . 45 . 4 . 513–21 . 1996 . 8603775 . 10.2337/diabetes.45.4.513 .
• Martin S, Lampasona V, Dosch M, Pietropaolo M . Islet cell autoantigen 69 antibodies in IDDM . Diabetologia . 39 . 6 . 747 . 1996 . 8781774 . 10.1007/BF00418550 . free .
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
• Gaedigk R . Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity . Genomics . 38 . 3 . 382–91 . 1997 . 8975715 . 10.1006/geno.1996.0641 . Karges W . Hui MF . Scherer . Stephen W. . Dosch . Hans-Michael .
• Stassi G, Schloot N, Pietropaolo M . Islet cell autoantigen 69 kDa (ICA69) is preferentially expressed in the human islets of Langerhans than exocrine pancreas . Diabetologia . 40 . 1 . 120–2 . 1997 . 9028728 .
• Rønningen KS . Anti-BSA antibodies do not cross-react with the 69-kDa islet cell autoantigen ICA69 . J. Autoimmun. . 11 . 3 . 223–31 . 1998 . 9693970 . 10.1006/jaut.1998.0199 . Atrazhev A . Luo L . Luo . Colin . Smith . Dean K . Korbutt . Gregory . Rajotte . Ray V . Elliott . John F .
• Kerokoski P . 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 . 1999 . 10433084 . 10.3109/08916939908994748 . Ilonen J . Gaedigk R . Dosch . Hans-Michael . Knip . Mikael . Hakala . Markku . Hinkkanene . Ari .
• Hartley JL, Temple GF, Brasch MA . DNA Cloning Using In Vitro Site-Specific Recombination . Genome Res. . 10 . 11 . 1788–95 . 2001 . 11076863 . 10.1101/gr.143000 . 310948 .
• Winer S . Primary Sjögren's syndrome and deficiency of ICA69 . Lancet . 360 . 9339 . 1063–9 . 2002 . 12383988 . 10.1016/S0140-6736(02)11144-5 . Astsaturov I . Cheung R . Tsui . Hubert . Song . Aihua . Gaedigk . Roger . Winer . Daniel . Sampson . Anastasia . McKerlie . Colin . 22039999 .
• Friday RP . Alternative core promoters regulate tissue-specific transcription from the autoimmune diabetes-related ICA1 (ICA69) gene locus . J. Biol. Chem. . 278 . 2 . 853–63 . 2003 . 12409289 . 10.1074/jbc.M210175200 . Pietropaolo SL . Profozich J . Trucco . M . Pietropaolo . M . free .

Notes and References

1. Miyazaki I, Gaedigk R, Hui MF, Cheung RK, Morkowski J, Rajotte RV, Dosch HM . Cloning of human and rat p69 cDNA, a candidate autoimmune target in type 1 diabetes . Biochim Biophys Acta . 1227 . 1–2 . 101–4 . Nov 1994 . 7918678 . 10.1016/0925-4439(94)90113-9.
2. Mally MI, Cirulli V, Hayek A, Otonkoski T . ICA69 is expressed equally in the human endocrine and exocrine pancreas . Diabetologia . 39 . 4 . 474–80 . Sep 1996 . 8777998 . 10.1007/BF00400680 . 23133011 .
3. Web site: Entrez Gene: ICA1 islet cell autoantigen 1, 69kDa.