Gene/Proteome Database (LMPD)
LMPD ID
LMP003538
Gene ID
Species
Homo sapiens (Human)
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class N
Gene Symbol
Synonyms
MCAHS; MCAHS1; MCD4; MDC4; PIG-N
Alternate Names
GPI ethanolamine phosphate transferase 1; MCD4 homolog; phosphatidylinositol-glycan biosynthesis class N protein
Chromosome
18
Map Location
18q21.33
EC Number
2.-.-.-
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 expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| GPI ethanolamine phosphate transferase 1 | |
|---|---|
| Refseq ID | NP_789744 |
| Protein GI | 29029537 |
| UniProt ID | O95427 |
| mRNA ID | NM_176787 |
| Length | 931 |
| RefSeq Status | REVIEWED |
| MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM | |
Gene Information
Entrez Gene ID
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class N
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005789 | TAS:Reactome | 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: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 |
| 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 |
| IPR007070 | GPI ethanolamine phosphate transferase 1 |
| IPR017852 | GPI ethanolamine phosphate transferase 1, C-terminal |
| IPR002591 | Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase |
UniProt Annotations
Entry Information
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class N
Protein Entry
PIGN_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Disease | Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) [MIM |
| Function | Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation. {ECO |
| Pathway | Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. |
| Similarity | Belongs to the PIGG/PIGN/PIGO family. PIGN subfamily. |
| Subcellular Location | Endoplasmic reticulum membrane {ECO |
Identical and Related Proteins
Unique RefSeq proteins for LMP003538 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 29029537 | RefSeq | NP_789744 | 931 | GPI ethanolamine phosphate transferase 1 |
Identical Sequences to LMP003538 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:29029537 | GenBank | ADS73669.1 | 931 | Sequence 138 from patent US 7811794 |
| GI:29029537 | GenBank | ADS73670.1 | 931 | Sequence 139 from patent US 7811794 |
| GI:29029537 | GenBank | ADS73671.1 | 931 | Sequence 140 from patent US 7811794 |
| GI:29029537 | GenBank | ADS73672.1 | 931 | Sequence 141 from patent US 7811794 |
| GI:29029537 | GenBank | AHD74106.1 | 931 | Sequence 13026 from patent US 8586006 |
| GI:29029537 | GenBank | AHD74107.1 | 931 | Sequence 13027 from patent US 8586006 |
Related Sequences to LMP003538 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:29029537 | DBBJ | BAG37585.1 | 931 | unnamed protein product [Homo sapiens] |
| GI:29029537 | GenBank | AAH28363.1 | 931 | Phosphatidylinositol glycan anchor biosynthesis, class N [Homo sapiens] |
| GI:29029537 | GenBank | ADZ15526.1 | 931 | phosphatidylinositol glycan anchor biosynthesis, class N, partial [synthetic construct] |
| GI:29029537 | GenBank | JAA18779.1 | 931 | phosphatidylinositol glycan anchor biosynthesis, class N [Pan troglodytes] |
| GI:29029537 | GenBank | AIC56070.1 | 931 | PIGN, partial [synthetic construct] |
| GI:29029537 | RefSeq | XP_004059543.1 | 931 | PREDICTED: GPI ethanolamine phosphate transferase 1 [Gorilla gorilla gorilla] |