GPATCH8

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

GPATCH8
Identifiers
Aliases	GPATCH8, GPATC8, KIAA0553, G-patch domain containing 8
External IDs	OMIM: 614396 MGI: 1918667 HomoloGene: 46117 GeneCards: GPATCH8
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.31 Start 44,395,281 bp[1] End 44,503,430 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 D-E1 Start 102,475,915 bp[2] End 102,556,392 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • metal ion binding • nucleic acid binding • RNA binding Cellular component • cellular component Biological process • biological process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
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 Mb	Chr 11: 102.48 – 102.56 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Hyperuricemia

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

References

1. GRCh38: Ensembl release 89: ENSG00000186566 - Ensembl, May 2017
2. 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.

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.
• 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.
• 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. 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. 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. PMID 10477733.