PIGH

PIGH
Identifiers
Aliases	PIGH , GPI-H, phosphatidylinositol glycan anchor biosynthesis class H
External IDs	OMIM: 600154; MGI: 99463; HomoloGene: 3361; GeneCards: PIGH; OMA:PIGH - orthologs
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q24.1 Start 67,581,955 bp [1] End 67,600,286 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12 C3|12 35.51 cM Start 79,127,438 bp [2] End 79,136,425 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas left lobe of thyroid gland right adrenal gland left adrenal gland right adrenal cortex left adrenal cortex right lobe of thyroid gland left ovary minor salivary glands right ovary Top expressed in Paneth cell transitional epithelium of urinary bladder seminal vesicula conjunctival fornix condyle epithelium of lens fossa renal corpuscle medullary collecting duct lobe of prostate More reference expression data BioGPS 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 Species Human Mouse Entrez 5283 110417 Ensembl ENSG00000100564 ENSMUSG00000021120 UniProt Q14442 Q5M9N4 RefSeq (mRNA) NM_004569 NM_001363694 NM_029988 RefSeq (protein) NP_004560 NP_001350623 NP_084264 Location (UCSC) Chr 14: 67.58 – 67.6 Mb Chr 12: 79.13 – 79.14 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000100564 – Ensembl, May 2017
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.
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.
6. "Entrez Gene: PIGH phosphatidylinositol glycan anchor biosynthesis, class H".
7. "AceView: Homo sapiens gene PIGH". AceView. National Library of Medicine. Retrieved 24 April 2011.
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. 17 (4). ENGLAND: 877–85. doi:10.1093/emboj/17.4.877. ISSN   0261-4189. PMC   1170437 . PMID   9463366.

Further reading

• 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.