GPATCH8

Protein-coding gene in the species Homo sapiens
GPATCH8
Identifiers
AliasesGPATCH8, GPATC8, KIAA0553, G-patch domain containing 8
External IDsOMIM: 614396; MGI: 1918667; HomoloGene: 46117; GeneCards: GPATCH8; OMA:GPATCH8 - orthologs
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for GPATCH8
Genomic location for GPATCH8
Band17q21.31Start44,395,281 bp[1]
End44,503,430 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for GPATCH8
Genomic location for GPATCH8
Band11|11 D-E1Start102,475,915 bp[2]
End102,556,392 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • sural nerve

  • secondary oocyte

  • right hemisphere of cerebellum

  • gastrocnemius muscle

  • Achilles tendon

  • nipple

  • epithelium of colon

  • external globus pallidus

  • pylorus

  • inferior olivary nucleus
Top expressed in
  • otic placode

  • saccule

  • otic vesicle

  • tail of embryo

  • zygote

  • genital tubercle

  • neural layer of retina

  • Rostral migratory stream

  • secondary oocyte

  • pineal gland
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • protein binding
  • metal ion binding
  • nucleic acid binding
  • RNA binding
Cellular component
  • cellular component
Biological process
  • biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

23131

237943

Ensembl

ENSG00000186566

ENSMUSG00000034621

UniProt

Q9UKJ3

A2A6A1

RefSeq (mRNA)
NM_001002909
NM_001304939
NM_001304940
NM_001304941
NM_001304942

NM_001304943

NM_001159492

RefSeq (protein)
NP_001002909
NP_001291868
NP_001291869
NP_001291870
NP_001291871

NP_001291872

NP_001152964

Location (UCSC)Chr 17: 44.4 – 44.5 MbChr 11: 102.48 – 102.56 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

G patch domain-containing protein 8 is a protein that in humans is encoded by the GPATCH8 gene.[5][6]

Hyperuricemia

Hyperuricemia cosegregating with osteogenesis imperfecta has been shown to be associated with a mutation in GPATCH8 using exome sequencing[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000186566 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034621 – 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. ^ Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Aug 1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.
  6. ^ "Entrez Gene: GPATCH8 G patch domain containing 8".
  7. ^ Kaneko H, Kitoh H, Matsuura T, Masuda A, Ito M, Mottes M, Rauch F, Ishiguro N, Ohno K (Nov 2011). "Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8". Hum. Genet. 130 (5): 671–83. doi:10.1007/s00439-011-1006-9. PMID 21594610. S2CID 1075364.

Further reading

  • Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
  • Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
  • Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R (2006). "Phosphoproteome analysis of the human mitotic spindle". Proc. Natl. Acad. Sci. U.S.A. 103 (14): 5391–6. Bibcode:2006PNAS..103.5391N. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
  • McKinney JL, Murdoch DJ, Wang J, Robinson J, Biltcliffe C, Khan HM, Walker PM, Savage J, Skerjanc I, Hegele RA (2005). "Venn analysis as part of a bioinformatic approach to prioritize expressed sequence tags from cardiac libraries". Clin. Biochem. 37 (11): 953–60. doi:10.1016/j.clinbiochem.2004.07.010. PMID 15498521.
  • Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
  • Thornton MA, Poncz M, Korostishevsky M, Yakobson E, Usher S, Seligsohn U, Peretz H (1999). "The human platelet alphaIIb gene is not closely linked to its integrin partner beta3". Blood. 94 (6): 2039–47. doi:10.1182/blood.V94.6.2039. PMID 10477733.


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