ICA1
Autoantigen otočićnih ćelija 1 je protein koji je kod ljudi kodiran genom ICA1.[4][5][6]
Aminokiselinska sekvenca
Dužina polipeptidnog lanca je 483 aminokiseline, а molekulska težina 54.645 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MSGHKCSYPW | DLQDRYAQDK | SVVNKMQQKY | WETKQAFIKA | TGKKEDEHVV | ||||
| ASDADLDAKL | ELFHSIQRTC | LDLSKAIVLY | QKRICFLSQE | ENELGKFLRS | ||||
| QGFQDKTRAG | KMMQATGKAL | CFSSQQRLAL | RNPLCRFHQE | VETFRHRAIS | ||||
| DTWLTVNRME | QCRTEYRGAL | LWMKDVSQEL | DPDLYKQMEK | FRKVQTQVRL | ||||
| AKKNFDKLKM | DVCQKVDLLG | ASRCNLLSHM | LATYQTTLLH | FWEKTSHTMA | ||||
| AIHESFKGYQ | PYEFTTLKSL | QDPMKKLVEK | EEKKKINQQE | STDAAVQEPS | ||||
| QLISLEEENQ | RKESSSFKTE | DGKSILSALD | KGSTHTACSG | PIDELLDMKS | ||||
| EEGACLGPVA | GTPEPEGADK | DDLLLLSEIF | NASSLEEGEF | SKEWAAVFGD | ||||
| GQVKEPVPTM | ALGEPDPKAQ | TGSGFLPSQL | LDQNMKDLQA | SLQEPAKAAS | ||||
| DLTAWFSLFA | DLDPLSNPDA | VGKTDKEHEL | LNA |
Funkcija
Ovaj gen kodira protein s domenom arfaptinske homologije, koji se nalazi i u citosolu i kao membranski vezani oblik na Golgijevom kompleksu i nezrelim sekretcijskim granulama. Vjeruje se da je ovaj protein autoantigen u insulinski ovisnom diabetes mellitus i primarnom Sjogrenovom sindromu. Opisane su alternativno prerađene varijante transkripta koje kodiraju različite izoforme proteina; međutim, nisu sve varijante u potpunosti okarakterizirane.[6]
Reference
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000062995 - Ensembl, maj 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".
- ^ "UniProt, Q05084" (jezik: engleski). Pristupljeno 25. 9. 2021.
Dopunska literatura
- 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, et al. (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, 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.
- 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. doi:10.1159/000133711. 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. 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, 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. 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, et al. (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, 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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