Gene/Proteome Database (LMPD)
LMPD ID
LMP001314
Gene ID
Species
Homo sapiens (Human)
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class O
Gene Symbol
Synonyms
HPMRS2
Alternate Names
GPI ethanolamine phosphate transferase 3; phosphatidylinositol-glycan biosynthesis class O protein
Chromosome
9
Map Location
9p13.3
EC Number
2.-.-.-
Summary
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Orthologs
Proteins
GPI ethanolamine phosphate transferase 3 isoform 1 | |
---|---|
Refseq ID | NP_116023 |
Protein GI | 23397648 |
UniProt ID | Q8TEQ8 |
mRNA ID | NM_032634 |
Length | 1089 |
RefSeq Status | REVIEWED |
MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGACWMASRFSRVVLVLIDALRFDFAQPQHSHVPREPPVSLPFLGKLSSLQRILEIQPHHARLYRSQVDPPTTTMQRLKALTTGSLPTFIDAGSNFASHAIVEDNLIKQLTSAGRRVVFMGDDTWKDLFPGAFSKAFFFPSFNVRDLDTVDNGILEHLYPTMDSGEWDVLIAHFLGVDHCGHKHGPHHPEMAKKLSQMDQVIQGLVERLENDTLLVVAGDHGMTTNGDHGGDSELEVSAALFLYSPTAVFPSTPPEEPEVIPQVSLVPTLALLLGLPIPFGNIGEVMAELFSGGEDSQPHSSALAQASALHLNAQQVSRFLHTYSAATQDLQAKELHQLQNLFSKASADYQWLLQSPKGAEATLPTVIAELQQFLRGARAMCIESWARFSLVRMAGGTALLAASCFICLLASQWAISPGFPFCPLLLTPVAWGLVGAIAYAGLLGTIELKLDLVLLGAVAAVSSFLPFLWKAWAGWGSKRPLATLFPIPGPVLLLLLFRLAVFFSDSFVVAEARATPFLLGSFILLLVVQLHWEGQLLPPKLLTMPRLGTSATTNPPRHNGAYALRLGIGLLLCTRLAGLFHRCPEETPVCHSSPWLSPLASMVGGRAKNLWYGACVAALVALLAAVRLWLRRYGNLKSPEPPMLFVRWGLPLMALGTAAYWALASGADEAPPRLRVLVSGASMVLPRAVAGLAASGLALLLWKPVTVLVKAGAGAPRTRTVLTPFSGPPTSQADLDYVVPQIYRHMQEEFRGRLERTKSQGPLTVAAYQLGSVYSAAMVTALTLLAFPLLLLHAERISLVFLLLFLQSFLLLHLLAAGIPVTTPGPFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGFPEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCESQGLRKRQQPPGNEADARVRPEEEEEPLMEMRLRDAPQHFYAALLQLGLKYLFILGIQILACALAASILRRHLMVWKVFAPKFIFEAVGFIVSSVGLLLGIALVMRVDGAVSSWFRQLFLAQQR |
GPI ethanolamine phosphate transferase 3 isoform 2 | |
---|---|
Refseq ID | NP_001188413 |
Protein GI | 319918882 |
UniProt ID | Q8TEQ8 |
mRNA ID | NM_001201484 |
Length | 672 |
RefSeq Status | REVIEWED |
MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGACWMASRFSRVVLVLIDALRFDFAQPQHSHVPREPPVSLPFLGKLSSLQRILEIQPHHARLYRSQVDPPTTTMQRLKALTTGSLPTFIDAGSNFASHAIVEDNLIKQLTSAGRRVVFMGDDTWKDLFPGAFSKAFFFPSFNVRDLDTVDNGILEHLYPTMDSGEWDVLIAHFLGVDHCGHKHGPHHPEMAKKLSQMDQVIQGLVERLENDTLLVVAGDHGMTTNGDHGGDSELEVSAALFLYSPTAVFPSTPPEEPEVIPQVSLVPTLALLLGLPIPFGNIGEVMAELFSGGEDSQPHSSALAQASALHLNAQQVSRFLHTYSAATQDLQAKELHQLQNLFSKASADYQWLLQSPKGAEATLPTVIAELQQFLRGARAMCIESWARFSLSFLLLHLLAAGIPVTTPGPFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGFPEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCESQGLRKRQQPPGNEADARVRPEEEEEPLMEMRLRDAPQHFYAALLQLGLKYLFILGIQILACALAASILRRHLMVWKVFAPKFIFEAVGFIVSSVGLLLGIALVMRVDGAVSSWFRQLFLAQQR |
Gene Information
Entrez Gene ID
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class O
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
GO ID | Source | Type | Description |
---|---|---|---|
GO:0005789 | ISS:UniProtKB | C | endoplasmic reticulum membrane |
GO:0016021 | IEA:UniProtKB-KW | C | integral component of membrane |
GO:0016020 | IDA:UniProtKB | C | membrane |
GO:0016740 | IEA:UniProtKB-KW | F | transferase activity |
GO:0006501 | TAS:Reactome | P | C-terminal protein lipidation |
GO:0006506 | ISS:UniProtKB | P | GPI anchor biosynthetic process |
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 O
Protein Entry
PIGO_HUMAN
UniProt ID
Species
Human
Comments
Comment Type | Description |
---|---|
Alternative Products | Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q8TEQ8-1; Sequence=Displayed; Name=2; IsoId=Q8TEQ8-2; Sequence=VSP_003944; Note=No experimental confirmation available.; |
Disease | Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) [MIM |
Function | Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond (By similarity). |
Pathway | Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. |
Sequence Caution | Sequence=AAC07985.1; Type=Erroneous gene model prediction; Evidence= ; Sequence=AAH01030.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=AAH13987.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=BAB84890.1; Type=Frameshift; Positions=Several; Evidence= ; Sequence=BAC03414.1; Type=Frameshift; Positions=Several; Evidence= ; Sequence=CAD38806.1; Type=Frameshift; Positions=46; Evidence= ; |
Similarity | Belongs to the PIGG/PIGN/PIGO family. PIGO subfamily. |
Subcellular Location | Endoplasmic reticulum membrane {ECO |
Subunit | Forms a complex with PIGF. PIGF is required to stabilize PIGO (By similarity). |
Identical and Related Proteins
Unique RefSeq proteins for LMP001314 (as displayed in Record Overview)
Protein GI | Database | Accession | Length | Protein Name |
---|---|---|---|---|
23397648 | RefSeq | NP_116023 | 1089 | GPI ethanolamine phosphate transferase 3 isoform 1 |
319918882 | RefSeq | NP_001188413 | 672 | GPI ethanolamine phosphate transferase 3 isoform 2 |
Identical Sequences to LMP001314 proteins
Reference | Database | Accession | Length | Protein Name |
---|---|---|---|---|
GI:319918882 | GenBank | AAH65282.1 | 672 | Phosphatidylinositol glycan anchor biosynthesis, class O [Homo sapiens] |
GI:319918882 | GenBank | AAH36916.1 | 672 | Phosphatidylinositol glycan anchor biosynthesis, class O [Homo sapiens] |
GI:319918882 | GenBank | EAW58397.1 | 672 | phosphatidylinositol glycan, class O, isoform CRA_a [Homo sapiens] |
GI:23397648 | GenBank | ADL73209.1 | 1089 | Sequence 266 from patent US 7696319 |
GI:23397648 | GenBank | ADL91379.1 | 1089 | Sequence 266 from patent US 7709602 |
GI:23397648 | GenBank | ADL91689.1 | 1089 | Sequence 266 from patent US 7709603 |
GI:23397648 | GenBank | ADL97770.1 | 1089 | Sequence 266 from patent US 7718770 |
GI:23397648 | GenBank | AEU55217.1 | 1089 | Sequence 266 from patent US 8063186 |
GI:319918882 | RefSeq | NP_690577.2 | 672 | GPI ethanolamine phosphate transferase 3 isoform 2 [Homo sapiens] |
GI:23397648 | RefSeq | XP_005251676.1 | 1089 | PREDICTED: GPI ethanolamine phosphate transferase 3 isoform X1 [Homo sapiens] |
Related Sequences to LMP001314 proteins
Reference | Database | Accession | Length | Protein Name |
---|---|---|---|---|
GI:319918882 | GenBank | JAA19780.1 | 672 | phosphatidylinositol glycan anchor biosynthesis, class O [Pan troglodytes] |
GI:23397648 | GenBank | JAA19781.1 | 1089 | phosphatidylinositol glycan anchor biosynthesis, class O [Pan troglodytes] |
GI:319918882 | GenBank | JAA22829.1 | 672 | phosphatidylinositol glycan anchor biosynthesis, class O [Pan troglodytes] |
GI:23397648 | GenBank | JAA22830.1 | 1089 | phosphatidylinositol glycan anchor biosynthesis, class O [Pan troglodytes] |
GI:23397648 | GenBank | JAA37407.1 | 1089 | phosphatidylinositol glycan anchor biosynthesis, class O [Pan troglodytes] |
GI:23397648 | GenBank | JAA37409.1 | 1089 | phosphatidylinositol glycan anchor biosynthesis, class O [Pan troglodytes] |
GI:23397648 | RefSeq | XP_008953462.1 | 1089 | PREDICTED: GPI ethanolamine phosphate transferase 3 isoform X1 [Pan paniscus] |
GI:23397648 | RefSeq | XP_008953463.1 | 1089 | PREDICTED: GPI ethanolamine phosphate transferase 3 isoform X1 [Pan paniscus] |
GI:319918882 | RefSeq | XP_008953464.1 | 672 | PREDICTED: GPI ethanolamine phosphate transferase 3 isoform X2 [Pan paniscus] |
GI:319918882 | RefSeq | XP_008953465.1 | 672 | PREDICTED: GPI ethanolamine phosphate transferase 3 isoform X2 [Pan paniscus] |
GI:319918882 | RefSeq | XP_009454826.1 | 672 | PREDICTED: GPI ethanolamine phosphate transferase 3 isoform X3 [Pan troglodytes] |
GI:319918882 | RefSeq | XP_009454827.1 | 672 | PREDICTED: GPI ethanolamine phosphate transferase 3 isoform X3 [Pan troglodytes] |