PIGP

From Wikipedia, the free encyclopedia

Phosphatidylinositol glycan anchor biosynthesis, class P

Identifiers

PIGP; DCRC; DCRC-S; DSCR5; DSRC

External IDs

OMIM: 605938 MGI: 1860433 HomoloGene: 32444

Gene ontology
Molecular Function:	• molecular_function • transferase activity, transferring glycosyl groups • phosphatidylinositol N-acetylglucosaminyltransferase activity
Cellular Component:	• membrane • integral to membrane
Biological Process:	• GPI anchor biosynthetic process • biological_process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_153681 (mRNA)
NP_710148 (protein)

NM_019543 (mRNA)
NP_062416 (protein)

Location

Chr 21: 37.36 - 37.37 Mb

Chr 16: 94.47 - 94.48 Mb

Pubmed search

[1]

[2]

Phosphatidylinositol glycan anchor biosynthesis, class P, also known as PIGP, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: PIGP phosphatidylinositol glycan anchor biosynthesis, class P.

[edit] 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. PMID 15489334.
Ferrando-Miguel R, Cheon MS, Lubec G (2005). "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.
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. 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.
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. 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. PMID 10907851.
Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21.". Nature 405 (6784): 311-9. doi:10.1038/35012518. PMID 10830953.
Shibuya K, Kudoh J, Minoshima S, et al. (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.