PIGP

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 94,159,622 bp [2] End 94,172,701 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis thoracic diaphragm myocardium retinal pigment epithelium vastus lateralis muscle caput epididymis bronchial epithelial cell right ventricle deltoid muscle islet of Langerhans Top expressed in quadriceps femoris muscle muscle tissue skeletal muscle tissue zone of skin esophagus heart mirror pancreas mesencephalon olfactory bulb More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity phosphatidylinositol N-acetylglucosaminyltransferase activity glycosyltransferase activity 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: 94.16 – 94.17 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. Bibcode:2002PNAS...9916899M. 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.