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
AliasesGTPBP6, PGPL, GTP binding protein 6 (putative)
External IDsOMIM: 300124 MGI: 1306825 HomoloGene: 8157 GeneCards: GTPBP6
Gene location (Human)
Chr.X chromosome (human)[1]
BandX;YStart304,529 bp[1]
End318,819 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 5: 110.1 – 110.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

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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


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