PIGH
Identifiers
AliasesPIGH, GPI-H, phosphatidylinositol glycan anchor biosynthesis class H
External IDsOMIM: 600154 MGI: 99463 HomoloGene: 3361 GeneCards: PIGH
Orthologs
SpeciesHumanMouse
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 MbChr 12: 79.13 – 79.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000100564 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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. ENGLAND. 17 (4): 877–85. doi:10.1093/emboj/17.4.877. ISSN 0261-4189. PMC 1170437. PMID 9463366.

Further reading


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