GBAS (gene)

NIPSNAP2
Identifiers
Aliases	NIPSNAP2 , GBAS, glioblastoma amplified sequence, nipsnap homolog 2
External IDs	OMIM: 603004 MGI: 1278343 HomoloGene: 1137 GeneCards: NIPSNAP2
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7p11.2 Start 55,951,793 bp [1] End 56,000,181 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 G1.3 Start 129,802,127 bp [2] End 129,835,391 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in biceps brachii vastus lateralis muscle right ventricle thoracic diaphragm gastrocnemius muscle deltoid muscle triceps brachii muscle body of tongue myocardium tibialis anterior muscle Top expressed in aortic valve atrioventricular valve skeletal muscle tissue plantaris muscle lip superior surface of tongue interventricular septum intercostal muscle extraocular muscle endocardial cushion More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component integral component of plasma membrane membrane mitochondrion cytoplasm mitochondrial outer membrane Biological process oxidative phosphorylation negative regulation of ATP citrate synthase activity ATP biosynthetic process positive regulation of high voltage-gated calcium channel activity mitochondrion organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2631 14467 Ensembl ENSG00000146729 ENSMUSG00000029432 UniProt O75323 O55126 RefSeq (mRNA) NM_001483 NM_001202469 NM_008095 RefSeq (protein) NP_001189398 NP_001474 n/a Location (UCSC) Chr 7: 55.95 – 56 Mb Chr 5: 129.8 – 129.84 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000146729 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029432 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "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.