GBAS

GBAS
Identifikatori
Aliasi	NIPSNAP2
Vanjski ID-jevi	OMIM: 603004 MGI: 1278343 HomoloGene: 1137 GeneCards: NIPSNAP2
Lokacija gena (čovjek)
Hrom.	Hromosom 7 (čovjek)
Kraj	56,000,181 bp
Lokacija gena (miš)
Hrom.	Hromosom 5 (miš)
Kraj	129,835,391 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• integral component of plasma membrane; • membrana; • mitohondrija; • citoplazma; • mitochondrial outer membrane;
Biološki proces	• Oksidacijska fosforilacija; • negative regulation of ATP citrate synthase activity; • ATP biosynthetic process; • positive regulation of high voltage-gated calcium channel activity; • mitochondrion organization;
	Izvori:Amigo / QuickGO
Ortolozi
	2631
	14467
	ENSG00000146729
	ENSMUSG00000029432
	O75323
	O55126
	NM_001483; NM_001202469
	NM_008095
	NP_001189398; NP_001474
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Homolog 2 proteina NipSnap je protein koji je kod ljudi kodiran genom GBAS.^[5]^[6]^[7]

Aminokiselinska sekvenca

Hromosomska regija 7p12, koja sadrži GBAS, pojačana je u približno 40% glioblastoma, najčešćeg i malignog oblika tumora centralnog nervnog sistema. Predviđeni protein sa 286 aminokiselina sadrži signalni peptid, transmembranski domen i dva mjesta fosforilacije tirozina. Transkript GBAS -a je najrasprostranjeniji u srcu i skeletnim mišićima. GBAS protein može biti uključen u transport vezikula.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000146729 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029432 - 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.
^ 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.
^ ^a ^b "Entrez Gene: GBAS glioblastoma amplified sequence".
^ "UniProt, O75323" (jezik: engleski). Pristupljeno 15. 9. 2021.

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