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  5. Phosphatidylinositol N-acetylglucosaminyltransferase subunit P

Tbio Phosphatidylinositol N-acetylglucosaminyltransferase subunit P

Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.

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. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]

 Comments

Property Summary

NCBI Gene PubMed Count 10
PubMed Score 56.95
PubTator Score 12.64

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count P-value
Multiple myeloma 1327 1.9e-03
pancreatic cancer 2300 2.6e-03
primary pancreatic ductal adenocarcinoma 1271 4.9e-03
osteosarcoma 7933 1.1e-02
lung cancer 4473 2.6e-02
Disease Target Count Z-score Confidence
Gastroparesis 20 4.028 2.0

Expression

  Differential Expression (6)

Disease log2 FC p
Down syndrome 1.100 1.3e-03
Multiple myeloma 1.741 1.9e-03
osteosarcoma 1.221 1.1e-02
primary pancreatic ductal adenocarcinoma -1.258 4.9e-03
lung cancer 1.200 2.6e-02
pancreatic cancer -1.300 2.6e-03

Synonym

Accession P57054 B2RB18 B2RE99 B5BU92 D3DSG7 J3KR75 Q53Y28 Q96KI1 Q9NZA6
Symbols DCRC
DSRC
DSCR5
PIG-P
DCRC-S

Gene

PIGP

PANTHER Protein Class (2)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (11)

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 GO Function (1)

 GO Component (3)

 GO Process (1)

 Compartment GO Term (28)

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 HCA RNA Cell Line (56)

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Pathway (9)

Protein-protein Interaction (6)

PIGA   PIGH   PIGC   PIGQ   PIGL   PYCARD  

Gene RIF (2)

PMID Text
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
11331941 Results in mouse suggest that this is the only gene from the Down Syndrome Critical Region expressed in the developing tongue and that the encoded protein may be involved in pathophysiology of tongue malformation seen in Down syndrome.

AA Sequence 

MVPRSTSLALIVFLFHRLSKAPGKMVENSPSPLPERAIYGFVLFLSSQFGFILYLVWAFIPESWLNSLGL      1 - 70
TYWPQKYWAVALPVYLLIAIVIGYVLLFGINMMSTSPLDSIHTITDNYAKNQQQKKYQEEAIPALRDISI     71 - 140
SEVNQMFFLAAKELYTKN                                                        141 - 158
//

Text Mined References (12)

PMID Year Title
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19054851 2008 Human protein factory for converting the transcriptome into an in vitro-expressed proteome,.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15221505 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).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11331941 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).
11102867 2000 Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis.
10944123 2000 Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2.
10907851 2000 A novel gene, DSCR5, from the distal Down syndrome critical region on chromosome 21q22.2.
10830953 2000 The DNA sequence of human chromosome 21.
10814524 2000 Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2.