Gene/Proteome Database (LMPD)
LMPD ID
LMP001664
Gene ID
Species
Homo sapiens (Human)
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class T
Gene Symbol
Synonyms
MCAHS3; NDAP; PNH2
Alternate Names
GPI transamidase component PIG-T; GPI transamidase subunit; phosphatidylinositol-glycan biosynthesis class T protein; neurotrophin-regulated neuronal development-associated protein
Chromosome
20
Map Location
20q12-q13.12
Summary
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Orthologs
Proteins
| GPI transamidase component PIG-T isoform 1 precursor | |
|---|---|
| Refseq ID | NP_057021 |
| Protein GI | 23397653 |
| UniProt ID | Q969N2 |
| mRNA ID | NM_015937 |
| Length | 578 |
| RefSeq Status | REVIEWED |
| MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL | |
| sig_peptide: 1..21 calculated_mol_wt: 2111 peptide sequence: MAAAMPLALLVLLLLGPGGWC mat_peptide: 22..522 product: GPI transamidase component PIG-T isoform 2 calculated_mol_wt: 57489 peptide sequence: LAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL sig_peptide: 1..21 calculated_mol_wt: 2111 peptide sequence: MAAAMPLALLVLLLLGPGGWC mat_peptide: 22..511 product: GPI transamidase component PIG-T isoform 3 calculated_mol_wt: 55895 peptide sequence: LAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENGYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL sig_peptide: 1..21 calculated_mol_wt: 2111 peptide sequence: MAAAMPLALLVLLLLGPGGWC mat_peptide: 22..476 product: GPI transamidase component PIG-T isoform 4 calculated_mol_wt: 52026 peptide sequence: LAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL sig_peptide: 1..21 experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (Q969N2.1) calculated_mol_wt: 2111 peptide sequence: MAAAMPLALLVLLLLGPGGWC mat_peptide: 22..578 product: GPI transamidase component PIG-T experiment: experimental evidence, no additional details recorded note: propagated from UniProtKB/Swiss-Prot (Q969N2.1) calculated_mol_wt: 63607 peptide sequence: LAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL | |
| GPI transamidase component PIG-T isoform 2 precursor | |
|---|---|
| Refseq ID | NP_001171657 |
| Protein GI | 296080710 |
| UniProt ID | Q969N2 |
| mRNA ID | NM_001184728 |
| Length | 522 |
| RefSeq Status | REVIEWED |
| MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL | |
| GPI transamidase component PIG-T isoform 3 precursor | |
|---|---|
| Refseq ID | NP_001171658 |
| Protein GI | 296080710 |
| UniProt ID | Q969N2 |
| mRNA ID | NM_001184729 |
| Length | 522 |
| RefSeq Status | REVIEWED |
| MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL | |
| GPI transamidase component PIG-T isoform 4 precursor | |
|---|---|
| Refseq ID | NP_001171659 |
| Protein GI | 296080714 |
| UniProt ID | Q969N2 |
| mRNA ID | NM_001184730 |
| Length | 476 |
| RefSeq Status | REVIEWED |
| MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL | |
Gene Information
Entrez Gene ID
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class T
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0016023 | IEA:Ensembl | C | cytoplasmic membrane-bounded vesicle |
| GO:0005789 | TAS:Reactome | C | endoplasmic reticulum membrane |
| GO:0042765 | TAS:UniProtKB | C | GPI-anchor transamidase complex |
| GO:0030176 | NAS:UniProtKB | C | integral component of endoplasmic reticulum membrane |
| GO:0016020 | IDA:UniProtKB | C | membrane |
| GO:0003923 | IEA:Ensembl | F | GPI-anchor transamidase activity |
| GO:0016255 | TAS:UniProtKB | P | attachment of GPI anchor to protein |
| GO:0044267 | TAS:Reactome | P | cellular protein metabolic process |
| GO:0006501 | TAS:Reactome | P | C-terminal protein lipidation |
| GO:0051402 | IEA:Ensembl | P | neuron apoptotic process |
| GO:0030182 | IEA:Ensembl | P | neuron differentiation |
| GO:0043687 | TAS:Reactome | P | post-translational protein modification |
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_1830 | Attachment of GPI anchor to uPAR |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR007245 | GPI transamidase component PIG-T |
UniProt Annotations
Entry Information
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class T
Protein Entry
PIGT_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q969N2-1; Sequence=Displayed; Name=2; IsoId=Q969N2-2; Sequence=VSP_009537; Name=3; IsoId=Q969N2-3; Sequence=VSP_009536, VSP_009539, VSP_009540; Note=No experimental confirmation available.; Name=4; IsoId=Q969N2-4; Sequence=VSP_009538; Name=5; IsoId=Q969N2-5; Sequence=VSP_043167; Note=No experimental confirmation available.; Name=6; IsoId=Q969N2-6; Sequence=VSP_009540; Note=No experimental confirmation available.; |
| Disease | Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM |
| Disease | Paroxysmal nocturnal hemoglobinuria 2 (PNH2) [MIM |
| Function | Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates. |
| Pathway | Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. |
| Ptm | The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity. |
| Sequence Caution | Sequence=AAD27715.1; Type=Frameshift; Positions=5, 27; Evidence= ; Sequence=AAQ88951.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; Sequence=CAB57341.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; |
| Similarity | Belongs to the PIGT family. |
| Subcellular Location | Endoplasmic reticulum membrane ; Single-pass type I membrane protein . |
| Subunit | Forms a complex with PIGK/GPI8, PIGS, PIGU and GPAA1/GAA1. Has a critical role in maintaining the complex by stabilizing the expression of GPAA1 and GPI8 and linking them to PIGS. |
Identical and Related Proteins
Unique RefSeq proteins for LMP001664 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 23397653 | RefSeq | NP_057021 | 578 | GPI transamidase component PIG-T isoform 1 precursor |
| 296080710 | RefSeq | NP_001171657 | 522 | GPI transamidase component PIG-T isoform 2 precursor |
| 296080710 | RefSeq | NP_001171658 | 522 | GPI transamidase component PIG-T isoform 3 precursor |
| 296080714 | RefSeq | NP_001171659 | 476 | GPI transamidase component PIG-T isoform 4 precursor |
Identical Sequences to LMP001664 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:296080710 | DBBJ | BAH12267.1 | 522 | unnamed protein product [Homo sapiens] |
| GI:296080710 | DBBJ | BAH12267.1 | 522 | unnamed protein product [Homo sapiens] |
| GI:296080714 | DBBJ | BAH13624.1 | 476 | unnamed protein product [Homo sapiens] |
| GI:296080710 | GenBank | ADT44553.1 | 522 | Sequence 222 from patent US 7838636 |
| GI:296080710 | GenBank | ADT44553.1 | 522 | Sequence 222 from patent US 7838636 |
| GI:296080710 | GenBank | ADT51726.1 | 522 | Sequence 3743 from patent US 7842467 |
| GI:296080710 | GenBank | ADT51726.1 | 522 | Sequence 3743 from patent US 7842467 |
| GI:23397653 | GenBank | AED56755.1 | 578 | Sequence 23 from patent US 7897394 |
| GI:296080710 | GenBank | AEJ71533.1 | 522 | Sequence 1317 from patent US 7968689 |
| GI:296080710 | GenBank | AEJ71533.1 | 522 | Sequence 1317 from patent US 7968689 |
| GI:23397653 | GenBank | AFO15774.1 | 578 | Sequence 23 from patent US 8211998 |
| GI:23397653 | GenBank | JAA07256.1 | 578 | phosphatidylinositol glycan anchor biosynthesis, class T [Pan troglodytes] |
| GI:296080710 | GenBank | JAA07257.1 | 522 | phosphatidylinositol glycan anchor biosynthesis, class T [Pan troglodytes] |
| GI:296080710 | GenBank | JAA07257.1 | 522 | phosphatidylinositol glycan anchor biosynthesis, class T [Pan troglodytes] |
| GI:23397653 | GenBank | AIC56487.1 | 578 | PIGT, partial [synthetic construct] |
| GI:23397653 | RefSeq | XP_008949602.1 | 578 | PREDICTED: GPI transamidase component PIG-T isoform X1 [Pan paniscus] |
| GI:23397653 | RefSeq | XP_009435578.1 | 578 | PREDICTED: GPI transamidase component PIG-T isoform X1 [Pan troglodytes] |
| GI:296080710 | RefSeq | XP_009435579.1 | 522 | PREDICTED: GPI transamidase component PIG-T isoform X2 [Pan troglodytes] |
| GI:296080710 | RefSeq | XP_009435579.1 | 522 | PREDICTED: GPI transamidase component PIG-T isoform X2 [Pan troglodytes] |
| GI:296080714 | RefSeq | XP_009435580.1 | 476 | PREDICTED: GPI transamidase component PIG-T isoform X3 [Pan troglodytes] |
Related Sequences to LMP001664 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:296080714 | GenBank | AAN96899.1 | 522 | Sequence 220 from patent US 6475753 |
| GI:296080714 | GenBank | AAW00978.1 | 522 | Sequence 220 from patent US 6774216 |
| GI:23397653 | GenBank | AAI10893.1 | 577 | PIGT protein, partial [Homo sapiens] |
| GI:296080714 | GenBank | EAW75844.1 | 522 | phosphatidylinositol glycan, class T, isoform CRA_d [Homo sapiens] |
| GI:23397653 | GenBank | ABN22119.1 | 574 | Sequence 234 from patent US 7153939 |
| GI:23397653 | GenBank | ABN26579.1 | 574 | Sequence 340 from patent US 7157247 |
| GI:23397653 | GenBank | ABN30348.1 | 574 | Sequence 340 from patent US 7166282 |
| GI:296080714 | GenBank | ACE20878.1 | 522 | Sequence 6109 from patent US 7368531 |
| GI:296080714 | GenBank | ACH31629.1 | 522 | Sequence 6109 from patent US 7411051 |
| GI:23397653 | GenBank | ACP73801.1 | 574 | Sequence 234 from patent US 7495083 |
| GI:296080714 | GenBank | AEJ71533.1 | 522 | Sequence 1317 from patent US 7968689 |
| GI:23397653 | RefSeq | XP_004062289.1 | 578 | PREDICTED: GPI transamidase component PIG-T [Gorilla gorilla gorilla] |
| GI:296080710 | RefSeq | XP_004430399.1 | 522 | PREDICTED: GPI transamidase component PIG-T isoform 2 [Ceratotherium simum simum] |
| GI:296080710 | RefSeq | XP_004430399.1 | 522 | PREDICTED: GPI transamidase component PIG-T isoform 2 [Ceratotherium simum simum] |
| GI:296080710 | RefSeq | XP_004631003.1 | 522 | PREDICTED: GPI transamidase component PIG-T isoform X2 [Octodon degus] |
| GI:296080710 | RefSeq | XP_004631003.1 | 522 | PREDICTED: GPI transamidase component PIG-T isoform X2 [Octodon degus] |
| GI:296080710 | RefSeq | XP_005325325.1 | 522 | PREDICTED: GPI transamidase component PIG-T isoform X2 [Ictidomys tridecemlineatus] |
| GI:296080710 | RefSeq | XP_005325325.1 | 522 | PREDICTED: GPI transamidase component PIG-T isoform X2 [Ictidomys tridecemlineatus] |
| GI:296080710 | RefSeq | XP_005392484.1 | 617 | PREDICTED: GPI transamidase component PIG-T isoform X2 [Chinchilla lanigera] |
| GI:296080710 | RefSeq | XP_005392484.1 | 617 | PREDICTED: GPI transamidase component PIG-T isoform X2 [Chinchilla lanigera] |
| GI:296080710 | RefSeq | XP_006091461.1 | 553 | PREDICTED: GPI transamidase component PIG-T isoform X2 [Myotis lucifugus] |
| GI:296080710 | RefSeq | XP_006091461.1 | 553 | PREDICTED: GPI transamidase component PIG-T isoform X2 [Myotis lucifugus] |
| GI:296080710 | RefSeq | XP_006193581.1 | 522 | PREDICTED: GPI transamidase component PIG-T isoform X2 [Camelus ferus] |
| GI:296080710 | RefSeq | XP_006193581.1 | 522 | PREDICTED: GPI transamidase component PIG-T isoform X2 [Camelus ferus] |