GBAS (gene)

Protein NipSnap homolog 2 is a protein that in humans is encoded by the GBAS gene.[5][6][7]

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 129,725,063 bp[2] End 129,758,327 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 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: 129.73 – 129.76 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. 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.