GPATCH8

G patch domain containing 8
Identifiers
Symbols	GPATCH8 ; GPATC8; KIAA0553
External IDs	OMIM: 614396 HomoloGene: 46117 GeneCards: GPATCH8 Gene
Gene ontology Molecular function • protein binding • poly(A) RNA binding • metal ion binding Cellular component • cellular_component Biological process • biological_process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	23131	237943
Ensembl	ENSG00000186566	ENSMUSG00000034621
UniProt	Q9UKJ3	A2A6A1
RefSeq (mRNA)	NM_001002909	NM_001159492
RefSeq (protein)	NP_001002909	NP_001152964
Location (UCSC)	Chr 17: 44.4 – 44.5 Mb	Chr 11: 102.48 – 102.56 Mb
PubMed search

G patch domain-containing protein 8 is a protein that in humans is encoded by the GPATCH8 gene.^[1][2]

Hyperuricemia

Hyperuricemia cosegregating with osteogenesis imperfecta has been shown to be associated with a mutation in GPATCH8 using exome sequencing^[3]

References

1. 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.
2. "Entrez Gene: GPATCH8 G patch domain containing 8".
3. 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.