GTPBP6

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

GTPBP6
Identifiers
Aliases	GTPBP6, PGPL, GTP binding protein 6 (putative)
External IDs	OMIM: 300124 MGI: 1306825 HomoloGene: 8157 GeneCards: GTPBP6
Gene location (Human) Chr. X chromosome (human)[1] Band X;Y Start 304,529 bp[1] End 318,819 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 F Start 110,103,975 bp[2] End 110,108,197 bp[2]
Orthologs
Species	Human	Mouse
Entrez	8225	107999
Ensembl	ENSG00000178605	ENSMUSG00000033434
UniProt	O43824	Q3U6U5
RefSeq (mRNA)	NM_012227	NM_145147
RefSeq (protein)	NP_036359	NP_660129
Location (UCSC)	Chr X: 0.3 – 0.32 Mb	Chr 5: 110.1 – 110.11 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

References

1. GRCh38: Ensembl release 89: ENSG00000178605 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000033434 - 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. 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.
6. 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.

Further reading

• 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. 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.