PIGH

PIGH
Identifiers
Aliases	PIGH, GPI-H, phosphatidylinositol glycan anchor biosynthesis class H
External IDs	OMIM: 600154 MGI: 99463 HomoloGene: 3361 GeneCards: PIGH
Gene location (Human)
Chr.	Chromosome 14 (human)[1]
End	67,600,286 bp[1]
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)[2]
End	79,136,425 bp[2]
RNA expression pattern
	Top expressed in
	body of pancreas; ; left lobe of thyroid gland; ; right adrenal gland; ; left adrenal gland; ; right lobe of thyroid gland; ; minor salivary gland; ; skin of abdomen; ; cerebellar hemisphere; ; gastric mucosa; ; gastrocnemius muscle;
	Top expressed in
	Paneth cell; ; seminal vesicula; ; conjunctival fornix; ; condyle; ; fossa; ; renal corpuscle; ; medullary collecting duct; ; external carotid artery; ; internal carotid artery; ; retinal pigment epithelium;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; phosphatidylinositol N-acetylglucosaminyltransferase activity; catalytic activity; glycosyltransferase activity;
Cellular component	cytoplasm; endoplasmic reticulum membrane; glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex; endoplasmic reticulum; membrane; integral component of membrane;
Biological process	GPI anchor biosynthetic process; preassembly of GPI anchor in ER membrane; metabolism;
	Sources:Amigo / QuickGO
Orthologs
	5283
	110417
	ENSG00000100564
	ENSMUSG00000021120
	Q14442
	Q5M9N4
	NM_004569; NM_001363694
	NM_029988
	NP_004560; NP_001350623
	NP_084264
	Wikidata
View/Edit Human	View/Edit Mouse

Phosphatidylinositol N-acetylglucosaminyltransferase subunit H is an enzyme that in humans is encoded by the PIGH gene.[5][6] The PIGH gene is located on the reverse strand of chromosome 14 in humans, and is neighbored by TMEM229B.[7]

This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum.[6]

Interactions

PIGH has been shown to interact with PIGQ.[8]

References

GRCh38: Ensembl release 89: ENSG00000100564 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000021120 - 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.
Ware RE, Howard TA, Kamitani T, Change HM, Yeh ET, Seldin MF (Jul 1994). "Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis: implications for the pathogenesis of paroxysmal nocturnal hemoglobinuria". Blood. 83 (12): 3753–7. doi:10.1182/blood.V83.12.3753.3753. PMID 8204896.
"Entrez Gene: PIGH phosphatidylinositol glycan anchor biosynthesis, class H".
"AceView: Homo sapiens gene PIGH". AceView. National Library of Medicine. Retrieved 24 April 2011.
Watanabe, R; Inoue N; Westfall B; Taron C H; Orlean P; Takeda J; Kinoshita T (Feb 1998). "The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1". EMBO J. ENGLAND. 17 (4): 877–85. doi:10.1093/emboj/17.4.877. ISSN 0261-4189. PMC 1170437. PMID 9463366.

Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Watanabe R, Inoue N, Westfall B, et al. (1998). "The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1". EMBO J. 17 (4): 877–85. doi:10.1093/emboj/17.4.877. PMC 1170437. PMID 9463366.
Watanabe R, Kinoshita T, Masaki R, et al. (1996). "PIG-A and PIG-H, which participate in glycosylphosphatidylinositol anchor biosynthesis, form a protein complex in the endoplasmic reticulum". J. Biol. Chem. 271 (43): 26868–75. doi:10.1074/jbc.271.43.26868. PMID 8900170.
Kamitani T, Chang HM, Rollins C, et al. (1993). "Correction of the class H defect in glycosylphosphatidylinositol anchor biosynthesis in Ltk- cells by a human cDNA clone". J. Biol. Chem. 268 (28): 20733–6. doi:10.1016/S0021-9258(19)36842-5. PMID 8407896.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100564 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021120 - 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.

[pmid8204896-5] Ware RE, Howard TA, Kamitani T, Change HM, Yeh ET, Seldin MF (Jul 1994). "Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis: implications for the pathogenesis of paroxysmal nocturnal hemoglobinuria". Blood. 83 (12): 3753–7. doi:10.1182/blood.V83.12.3753.3753. PMID 8204896.

[entrez-6] "Entrez Gene: PIGH phosphatidylinositol glycan anchor biosynthesis, class H".

[AceView-7] "AceView: Homo sapiens gene PIGH". AceView. National Library of Medicine. Retrieved 24 April 2011.

[pmid9463366-8] Watanabe, R; Inoue N; Westfall B; Taron C H; Orlean P; Takeda J; Kinoshita T (Feb 1998). "The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1". EMBO J. ENGLAND. 17 (4): 877–85. doi:10.1093/emboj/17.4.877. ISSN 0261-4189. PMC 1170437. PMID 9463366.

PIGH

Interactions

References

Further reading