PIGP

Subunit P of phosphatidylinositol N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the PIGP gene.[5][6][7]

PIGP
Identifiers
Aliases	PIGP, DCRC, DCRC-S, DSCR5, DSRC, PIG-P, phosphatidylinositol glycan anchor biosynthesis class P, EIEE55
External IDs	OMIM: 605938 MGI: 1860433 HomoloGene: 32444 GeneCards: PIGP
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q22.13 Start 37,059,170 bp[1] End 37,073,170 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 C4 Start 94,358,763 bp[2] End 94,371,842 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • transferase activity • phosphatidylinositol N-acetylglucosaminyltransferase activity • transferase activity, transferring glycosyl groups Cellular component • integral component of membrane • endoplasmic reticulum membrane • glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex • membrane Biological process • preassembly of GPI anchor in ER membrane • GPI anchor biosynthetic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	51227	56176
Ensembl	ENSG00000185808	ENSMUSG00000022940
UniProt	P57054	Q9JHG1
RefSeq (mRNA)	NM_153681 NM_153682 NM_001320480 NM_016430	NM_001159616 NM_001159617 NM_001159618 NM_001159619 NM_001159620 NM_019543
RefSeq (protein)	NP_001307409 NP_057514 NP_710148 NP_710149	NP_001153088 NP_001153089 NP_001153090 NP_001153091 NP_001153092 NP_062416
Location (UCSC)	Chr 21: 37.06 – 37.07 Mb	Chr 16: 94.36 – 94.37 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000185808 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022940 - 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. Shibuya K, Kudoh J, Minoshima S, Kawasaki K, Asakawa S, Shimizu N (Jun 2000). "Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2". Biochem Biophys Res Commun. 271 (3): 693–8. doi:10.1006/bbrc.2000.2685. PMID 10814524.
6. Ferrando-Miguel R, Cheon MS, Lubec G (Jun 2004). "Protein levels of genes encoded on chromosome 21 in fetal Down Syndrome brain (Part V): overexpression of phosphatidyl-inositol-glycan class P protein (DSCR5)". Amino Acids. 26 (3): 255–61. doi:10.1007/s00726-004-0065-9. PMID 15221505. S2CID 42311306.
7. "Entrez Gene: PIGP phosphatidylinositol glycan anchor biosynthesis, class P".

Further reading

• 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.
• 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Choi DK, Suzuki Y, Yoshimura S, et al. (2001). "Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome Critical Region gene 5)". Mamm. Genome. 12 (5): 347–51. doi:10.1007/s003350010283. PMID 11331941. S2CID 41171148.
• Watanabe R, Murakami Y, Marmor MD, et al. (2000). "Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2". EMBO J. 19 (16): 4402–11. doi:10.1093/emboj/19.16.4402. PMC 302040. PMID 10944123.
• Togashi T, Choi DK, Taylor TD, et al. (2001). "A novel gene, DSCR5, from the distal Down syndrome critical region on chromosome 21q22.2". DNA Res. 7 (3): 207–12. doi:10.1093/dnares/7.3.207. PMID 10907851.
• Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.