DOSEN PROFIL LENGKAP

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)
End	44,503,430 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	102,556,392 bp
RNA expression pattern
	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
	; ;
	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
	23131
	237943
	ENSG00000186566
	ENSMUSG00000034621
	Q9UKJ3
	A2A6A1
NM_001002909; NM_001304939; NM_001304940; NM_001304941; NM_001304942;
	NM_001304943
	NM_001159492
NP_001002909; NP_001291868; NP_001291869; NP_001291870; NP_001291871;
	NP_001291872
	NP_001152964
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000186566 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034621 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ "Entrez Gene: GPATCH8 G patch domain containing 8".
^ 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.

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.

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000186566 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9628581-5] 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.

[entrez-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.

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DOSEN PROFIL LENGKAP

GPATCH8

Hyperuricemia

References

Further reading

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