Gene/Proteome Database (LMPD)
LMPD ID
LMP004710
Gene ID
Species
Homo sapiens (Human)
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class V
Gene Symbol
Synonyms
GPI-MT-II; HPMRS1; PIG-V
Alternate Names
GPI mannosyltransferase 2; Ybr004c homolog; GPI mannosyltransferase II; dol-P-Man dependent GPI mannosyltransferase
Chromosome
1
Map Location
1p36.11
EC Number
2.4.1.-
Summary
This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
Orthologs
Proteins
| GPI mannosyltransferase 2 | |
|---|---|
| Refseq ID | NP_060307 |
| Protein GI | 21361771 |
| UniProt ID | Q9NUD9 |
| mRNA ID | NM_017837 |
| Length | 493 |
| RefSeq Status | REVIEWED |
| MWPQDPSRKEVLRFAVSCRILTLMLQALFNAIIPDHHAEAFSPPRLAPSGFVDQLVEGLLGGLSHWDAEHFLFIAEHGYLYEHNFAFFPGFPLALLVGTELLRPLRGLLSLRSCLLISVASLNFLFFMLAAVALHDLGCLVLHCPHQSFYAALLFCLSPANVFLAAGYSEALFALLTFSAMGQLERGRVWTSVLLFAFATGVRSNGLVSVGFLMHSQCQGFFSSLTMLNPLRQLFKLMASLFLSVFTLGLPFALFQYYAYTQFCLPGSARPIPEPLVQLAVDKGYRIAEGNEPPWCFWDVPLIYSYIQDVYWNVGFLKYYELKQVPNFLLAAPVAILVAWATWTYVTTHPWLCLTLGLQRSKNNKTLEKPDLGFLSPQVFVYVVHAAVLLLFGGLCMHVQVLTRFLGSSTPIMYWFPAHLLQDQEPLLRSLKTVPWKPLAEDSPPGQKVPRNPIMGLLYHWKTCSPVTRYILGYFLTYWLLGLLLHCNFLPWT | |
| GPI mannosyltransferase 2 | |
|---|---|
| Refseq ID | NP_001189483 |
| Protein GI | 322309865 |
| UniProt ID | Q9NUD9 |
| mRNA ID | NM_001202554 |
| Length | 493 |
| RefSeq Status | REVIEWED |
| Protein sequence is identical to GI:21361771 (mRNA isoform) | |
Gene Information
Entrez Gene ID
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class V
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005789 | IDA:UniProtKB | C | endoplasmic reticulum membrane |
| GO:0016021 | NAS:UniProtKB | C | integral component of membrane |
| GO:0000030 | IMP:UniProtKB | F | mannosyltransferase activity |
| GO:0006501 | TAS:Reactome | P | C-terminal protein lipidation |
| GO:0006506 | IMP:UniProtKB | P | GPI anchor biosynthetic process |
| GO:0044267 | TAS:Reactome | P | cellular protein metabolic process |
| GO:0097502 | IMP:GOC | P | mannosylation |
| 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 |
|---|---|
| IPR007315 | GPI_Mannosyltransferase_2 |
UniProt Annotations
Entry Information
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class V
Protein Entry
PIGV_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Disease | Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM |
| Function | Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly. {ECO |
| Pathway | Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. |
| Ptm | Not N-glycosylated. |
| Sequence Caution | Sequence=CAI21625.1; Type=Erroneous gene model prediction; Evidence= ; Sequence=CAI21626.1; Type=Erroneous gene model prediction; Evidence= ; Sequence=CAI21627.1; Type=Erroneous gene model prediction; Evidence= ; |
| Similarity | Belongs to the PIGV family. |
| Subcellular Location | Endoplasmic reticulum membrane ; Multi-pass membrane protein . |
Identical and Related Proteins
Unique RefSeq proteins for LMP004710 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 21361771 | RefSeq | NP_060307 | 493 | GPI mannosyltransferase 2 |
Identical Sequences to LMP004710 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:21361771 | GenBank | EAX07790.1 | 493 | phosphatidylinositol glycan, class V, isoform CRA_a [Homo sapiens] |
| GI:21361771 | GenBank | EAX07791.1 | 493 | phosphatidylinositol glycan, class V, isoform CRA_a [Homo sapiens] |
| GI:21361771 | GenBank | EAX07792.1 | 493 | phosphatidylinositol glycan, class V, isoform CRA_a [Homo sapiens] |
| GI:21361771 | GenBank | AIC51809.1 | 493 | PIGV, partial [synthetic construct] |
| GI:21361771 | RefSeq | NP_001189483.1 | 493 | GPI mannosyltransferase 2 [Homo sapiens] |
| GI:21361771 | SwissProt | Q9NUD9.1 | 493 | RecName: Full=GPI mannosyltransferase 2; AltName: Full=GPI mannosyltransferase II; Short=GPI-MT-II; AltName: Full=Phosphatidylinositol-glycan biosynthesis class V protein; Short=PIG-V [Homo sapiens] |
Related Sequences to LMP004710 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:21361771 | DBBJ | BAA91196.1 | 493 | unnamed protein product [Homo sapiens] |
| GI:21361771 | EMBL | CAH05337.1 | 493 | unnamed protein product [Homo sapiens] |
| GI:21361771 | EMBL | CAH05376.1 | 493 | unnamed protein product [Homo sapiens] |
| GI:21361771 | RefSeq | XP_003809480.1 | 493 | PREDICTED: GPI mannosyltransferase 2 [Pan paniscus] |
| GI:21361771 | RefSeq | XP_008959902.1 | 493 | PREDICTED: GPI mannosyltransferase 2 [Pan paniscus] |
| GI:21361771 | RefSeq | XP_008959903.1 | 493 | PREDICTED: GPI mannosyltransferase 2 [Pan paniscus] |