GTPBP6

GTPBP6
Identifiers
Aliases	GTPBP6, PGPL, GTP binding protein 6 (putative)
External IDs	OMIM: 300124; MGI: 1306825; GeneCards: GTPBP6
Gene location (Human)
Chr.	X chromosome (human)
End	318,819 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	110,256,063 bp
RNA expression pattern
	Top expressed in
	left ovary; ; right ovary; ; right hemisphere of cerebellum; ; tibial nerve; ; body of stomach; ; gastrocnemius muscle; ; body of uterus; ; sural nerve; ; left uterine tube; ; right uterine tube;
	Top expressed in
	neural layer of retina; ; yolk sac; ; superior frontal gyrus; ; primary visual cortex; ; granulocyte; ; dentate gyrus of hippocampal formation granule cell; ; lip; ; ventricular zone; ; spinal ganglia; ; muscle of thigh;
	More reference expression data
	n/a
Orthologs
Databases	NCBI: entry; OMA: entry
	8225
	107999
	ENSG00000178605
	ENSMUSG00000033434
	O43824
	Q3U6U5
	NM_012227
	NM_145147
	NP_036359
	NP_660129
	Wikidata
View/Edit Human	View/Edit Mouse

GTP binding protein 6 also known as GTPBP6 is a protein which in humans is encoded by the pseudoautosomal GTPBP6 gene.^[5]

Clinical significance

Overexpression of GTPBP6 as a result of Klinefelter's syndrome (one or more extra X-chromosomes) is inversely correlated with verbal ability.^[6]

1 2 3 GRCh38: Ensembl release 89: ENSG00000178605 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000033434 – 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.
↑ Gianfrancesco F, Esposito T, Montanini L, Ciccodicola A, Mumm S, Mazzarella R, Rao E, Giglio S, Rappold G, Forabosco A (March 1998). "A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere". Hum. Mol. Genet. 7 (3): 407–14. doi:10.1093/hmg/7.3.407. PMID 9466997.
↑ Vawter MP, Harvey PD, DeLisi LE (September 2007). "Dysregulation of X-Linked Gene Expression in Klinefelter's Syndrome and Association With Verbal Cognition". Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B (6): 728–34. doi:10.1002/ajmg.b.30454. PMC 2094046. PMID 17347996.

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.