GPATCH8

GPATCH8
Identifiers
Aliases	GPATCH8 , GPATC8, KIAA0553, G-patch domain containing 8
External IDs	OMIM: 614396; MGI: 1918667; HomoloGene: 46117; GeneCards: GPATCH8; OMA:GPATCH8 - orthologs
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 Bgee Human Mouse (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 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

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. 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. 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.