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
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] |