NIPSNAP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | NIPSNAP2, GBAS, glioblastoma amplified sequence, nipsnap homolog 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 603004 MGI: 1278343 HomoloGene: 1137 GeneCards: NIPSNAP2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Protein NipSnap homolog 2 is a protein that in humans is encoded by the GBAS gene.[5][6][7]
Chromosomal region 7p12, which contains GBAS, is amplified in approximately 40% of glioblastomas, the most common and malignant form of central nervous system tumor. The predicted 286-amino acid protein contains a signal peptide, a transmembrane domain, and 2 tyrosine phosphorylation sites. The GBAS transcript is expressed most abundantly in heart and skeletal muscle. GBAS protein might be involved in vesicular transport.[7]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000146729 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029432 - 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.
- ↑ Wang XY, Smith DI, Liu W, James CD (Aug 1998). "GBAS, a novel gene encoding a protein with tyrosine phosphorylation sites and a transmembrane domain, is co-amplified with EGFR". Genomics. 49 (3): 448–51. doi:10.1006/geno.1998.5239. PMID 9615231.
- ↑ Seroussi E, Pan HQ, Kedra D, Roe BA, Dumanski JP (Jul 1998). "Characterization of the human NIPSNAP1 gene from 22q12: a member of a novel gene family". Gene. 212 (1): 13–20. doi:10.1016/S0378-1119(98)00098-5. PMID 9661659.
- 1 2 "Entrez Gene: GBAS glioblastoma amplified sequence".
Further reading
- Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
- Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- 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.
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