Gene/Proteome Database (LMPD)

LMPD ID
LMP000186
Gene ID
Species
Homo sapiens (Human)
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class P
Gene Symbol
Synonyms
DCRC; DCRC-S; DSCR5; DSRC
Alternate Names
phosphatidylinositol N-acetylglucosaminyltransferase subunit P; PIG-P; Down syndrome critical region gene 5; phosphatidylinositol glycan, class P; Down syndrome critical region protein 5; Down syndrome critical region protein C; phosphatidylinositol-glycan biosynthesis class P protein; phosphatidylinositol-n-acetylglucosaminyltranferase subunit
Chromosome
21
Map Location
21q22.2
EC Number
2.4.1.198
Summary
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. [provided by RefSeq, Jul 2008]
Orthologs

Proteins

phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 1
Refseq ID NP_710148
Protein GI 24497597
UniProt ID P57054
mRNA ID NM_153681
Length 158
RefSeq Status REVIEWED
MVPRSTSLTLIVFLFHRLSKAPGKMVENSPSPLPERAIYGFVLFLSSQFGFILYLVWAFIPESWLNSLGLTYWPQKYWAVALPVYLLIAIVIGYVLLFGINMMSTSPLDSIHTITDNYAKNQQQKKYQEEAIPALRDISISEVNQMFFLAAKELYTKN
phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 2
Refseq ID NP_710149
Protein GI 24497599
UniProt ID P57054
mRNA ID NM_153682
Length 134
RefSeq Status REVIEWED
MVENSPSPLPERAIYGFVLFLSSQFGFILYLVWAFIPESWLNSLGLTYWPQKYWAVALPVYLLIAIVIGYVLLFGINMMSTSPLDSIHTITDNYAKNQQQKKYQEEAIPALRDISISEVNQMFFLAAKELYTKN

Gene Information

Entrez Gene ID
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class P
Gene Symbol
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0000506 IDA:MGI C glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0017176 IEA:UniProtKB-EC F phosphatidylinositol N-acetylglucosaminyltransferase activity
GO:0006501 TAS:Reactome P C-terminal protein lipidation
GO:0044267 TAS:Reactome P cellular protein metabolic process
GO:0043687 TAS:Reactome P post-translational protein modification
GO:0016254 TAS:Reactome P preassembly of GPI anchor in ER membrane

KEGG Pathway Links

KEGG Pathway ID Description
hsa00563 Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
ko00563 Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
hsa01100 Metabolic pathways

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_952 Synthesis of glycosylphosphatidylinositol (GPI)

Domain Information

InterPro Annotations

Accession Description
IPR013717 PIG-P
IPR016542 Phosphatidylinositol N-acetylglucosaminyltransferase, GPI19/PIG-P subunit

UniProt Annotations

Entry Information

Gene Name
phosphatidylinositol glycan anchor biosynthesis, class P
Protein Entry
PIGP_HUMAN
UniProt ID
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=B; IsoId=P57054-1; Sequence=Displayed; Name=A; IsoId=P57054-2; Sequence=VSP_004202; Name=C; Synonyms=DCRC-S; IsoId=P57054-3; Sequence=VSP_004203, VSP_004204;
Catalytic Activity UDP-N-acetyl-D-glucosamine + 1-phosphatidyl- 1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol.
Function Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.
Pathway Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
Similarity Belongs to the PIGP family.
Subcellular Location Membrane ; Multi-pass membrane protein .
Subunit Associates with PIGA, PIGC, PIGH, PIGQ and DPM2. The latter is not essential for activity.
Tissue Specificity Ubiquitous.

Identical and Related Proteins

Unique RefSeq proteins for LMP000186 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
24497597 RefSeq NP_710148 158 phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 1
24497599 RefSeq NP_710149 134 phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 2

Identical Sequences to LMP000186 proteins

Reference Database Accession Length Protein Name
GI:24497597 DBBJ BAA95636.1 158 DSCR5b [Homo sapiens]
GI:24497597 DBBJ BAG37065.1 158 unnamed protein product [Homo sapiens]
GI:24497597 GenBank AAG09757.1 158 NPD010 [Homo sapiens]
GI:24497597 GenBank EAX09724.1 158 phosphatidylinositol glycan, class P, isoform CRA_a [Homo sapiens]
GI:24497599 RefSeq XP_008975896.1 134 PREDICTED: phosphatidylinositol N-acetylglucosaminyltransferase subunit P [Pan paniscus]
GI:24497599 RefSeq XP_008975897.1 134 PREDICTED: phosphatidylinositol N-acetylglucosaminyltransferase subunit P [Pan paniscus]
GI:24497599 RefSeq XP_008975898.1 134 PREDICTED: phosphatidylinositol N-acetylglucosaminyltransferase subunit P [Pan paniscus]
GI:24497599 RefSeq XP_008975899.1 134 PREDICTED: phosphatidylinositol N-acetylglucosaminyltransferase subunit P [Pan paniscus]
GI:24497599 RefSeq XP_009422571.1 134 PREDICTED: phosphatidylinositol N-acetylglucosaminyltransferase subunit P [Pan troglodytes]
GI:24497599 RefSeq XP_009422620.1 134 PREDICTED: phosphatidylinositol N-acetylglucosaminyltransferase subunit P [Pan troglodytes]

Related Sequences to LMP000186 proteins

Reference Database Accession Length Protein Name
GI:24497599 DBBJ BAA95636.1 158 DSCR5b [Homo sapiens]
GI:24497599 DBBJ BAA96872.1 158 DSCR5b [Homo sapiens]
GI:24497597 DBBJ BAA96872.1 158 DSCR5b [Homo sapiens]
GI:24497599 DBBJ BAG37065.1 158 unnamed protein product [Homo sapiens]
GI:24497599 GenBank AAG09757.1 158 NPD010 [Homo sapiens]
GI:24497599 GenBank EAX09724.1 158 phosphatidylinositol glycan, class P, isoform CRA_a [Homo sapiens]
GI:24497599 RefSeq NP_710148.1 158 phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 1 [Homo sapiens]
GI:24497597 RefSeq XP_004417915.1 157 PREDICTED: LOW QUALITY PROTEIN: phosphatidylinositol glycan anchor biosynthesis, class P [Odobenus rosmarus divergens]
GI:24497597 RefSeq XP_006196094.1 154 PREDICTED: LOW QUALITY PROTEIN: phosphatidylinositol glycan anchor biosynthesis, class P [Camelus ferus]
GI:24497597 RefSeq XP_008700114.1 157 PREDICTED: phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform X1 [Ursus maritimus]
GI:24497597 RefSeq XP_009232211.1 146 PREDICTED: phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform X2 [Pongo abelii]
GI:24497597 SwissProt P57054.3 158 RecName: Full=Phosphatidylinositol N-acetylglucosaminyltransferase subunit P; AltName: Full=Down syndrome critical region protein 5; AltName: Full=Down syndrome critical region protein C; AltName: Full=Phosphatidylinositol-glycan biosynthesis class P protein; Short=PIG-P [Homo sapiens]