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
GPI ethanolamine phosphate transferase 3 isoform 2
Refseq ID NP_690577
Protein GI 38045917
UniProt ID Q8TEQ8
mRNA ID NM_152850
Length 672
RefSeq Status REVIEWED
Protein sequence is identical to GI:319918882 (mRNA isoform)

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

InterPro Annotations

Accession Description
IPR017849 Alkaline phosphatase-like, alpha/beta/alpha
IPR017850 Alkaline-phosphatase-like, core domain
IPR002591 Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase

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]