GTPBP6

Protein-coding gene in humans
GTPBP6
Identifiers
AliasesGTPBP6, PGPL, GTP binding protein 6 (putative)
External IDsOMIM: 300124; MGI: 1306825; HomoloGene: 8157; GeneCards: GTPBP6; OMA:GTPBP6 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for GTPBP6
Genomic location for GTPBP6
BandX;YStart304,529 bp[1]
End318,819 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for GTPBP6
Genomic location for GTPBP6
Band5|5 FStart110,251,841 bp[2]
End110,256,063 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
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: 110.25 – 110.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000178605 – Ensembl, May 2017
  2. ^ a b c 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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