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GTPBP6
Identifiers
Aliases	GTPBP6, PGPL, GTP binding protein 6 (putative)
External IDs	OMIM: 300124; MGI: 1306825; HomoloGene: 8157; GeneCards: GTPBP6; OMA:GTPBP6 - orthologs
Gene location (Human) Chr. X chromosome (human) Band X;Y Start 304,529 bp End 318,819 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 F Start 110,251,841 bp End 110,256,063 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS n/a
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: 110.25 – 110.26 Mb PubMed search
Wikidata
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GTP binding protein 6 also known as GTPBP6 is a protein which in humans is encoded by the pseudoautosomal GTPBP6 gene.

Clinical significance

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

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. 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.

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