Gene/Proteome Database (LMPD)
LMPD ID
LMP001992
Gene ID
Species
Homo sapiens (Human)
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class L
Gene Symbol
Synonyms
CHIME
Alternate Names
N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase; PIG-L; phosphatidylinositol glycan, class L; N-acetylglucosaminylphosphatidylinositol deacetylase; phosphatidylinositol-glycan biosynthesis class L protein
Chromosome
17
Map Location
17p12-p11.2
EC Number
3.5.1.89
Summary
This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase precursor | |
|---|---|
| Refseq ID | NP_004269 |
| Protein GI | 4758922 |
| UniProt ID | Q9Y2B2 |
| mRNA ID | NM_004278 |
| Length | 252 |
| RefSeq Status | REVIEWED |
| MEAMWLLCVALAVLAWGFLWVWDSSERMKSREQGGRLGAESRTLLVIAHPDDEAMFFAPTVLGLARLRHWVYLLCFSAGNYYNQGETRKKELLQSCDVLGIPLSSVMIIDNRDFPDDPGMQWDTEHVARVLLQHIEVNGINLVVTFDAGGVSGHSNHIALYAAVRALHSEGKLPKGCSVLTLQSVNVLRKYISLLDLPLSLLHTQDVLFVLNSKEVAQAKKAMSCHRSQLLWFRRLYIIFSRYMRINSLSFL | |
| sig_peptide: 1..17 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1877 peptide sequence: MEAMWLLCVALAVLAWG | |
Gene Information
Entrez Gene ID
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class L
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:0000225 | NAS:UniProtKB | F | N-acetylglucosaminylphosphatidylinositol deacetylase activity |
| GO:0006501 | TAS:Reactome | P | C-terminal protein lipidation |
| GO:0006506 | NAS: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 |
| 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 L
Protein Entry
PIGL_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y2B2-1; Sequence=Displayed; Name=2; IsoId=Q9Y2B2-2; Sequence=VSP_056886; Note=No experimental confirmation available; |
| Catalytic Activity | 6-(N-acetyl-alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol + H(2)O = 6-(alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol + acetate. |
| Disease | Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME) [MIM |
| Function | Involved in the second step of GPI biosynthesis. De-N- acetylation of N-acetylglucosaminyl-phosphatidylinositol. |
| Pathway | Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. |
| Similarity | Belongs to the PIGL family. |
| Subcellular Location | Endoplasmic reticulum membrane {ECO |
Identical and Related Proteins
Unique RefSeq proteins for LMP001992 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 4758922 | RefSeq | NP_004269 | 252 | N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase precursor |
Identical Sequences to LMP001992 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4758922 | GenBank | ADF25031.1 | 252 | Sequence 199 from patent US 7691599 |
| GI:4758922 | GenBank | ADQ32060.1 | 252 | phosphatidylinositol glycan anchor biosynthesis, class L, partial [synthetic construct] |
| GI:4758922 | GenBank | AED45474.1 | 252 | Sequence 1242 from patent US 7892730 |
| GI:4758922 | GenBank | AED56750.1 | 252 | Sequence 18 from patent US 7897394 |
| GI:4758922 | GenBank | AFO15769.1 | 252 | Sequence 18 from patent US 8211998 |
| GI:4758922 | GenBank | AHD78092.1 | 252 | Sequence 25071 from patent US 8586006 |
Related Sequences to LMP001992 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4758922 | GenBank | ACM83877.1 | 253 | Sequence 9375 from patent US 6812339 |
| GI:4758922 | GenBank | JAA06368.1 | 252 | phosphatidylinositol glycan anchor biosynthesis, class L [Pan troglodytes] |
| GI:4758922 | GenBank | JAA14336.1 | 252 | phosphatidylinositol glycan anchor biosynthesis, class L [Pan troglodytes] |
| GI:4758922 | GenBank | JAA27801.1 | 252 | phosphatidylinositol glycan anchor biosynthesis, class L [Pan troglodytes] |
| GI:4758922 | RefSeq | XP_003262666.1 | 252 | PREDICTED: N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase [Nomascus leucogenys] |
| GI:4758922 | RefSeq | XP_523760.3 | 252 | PREDICTED: N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform X1 [Pan troglodytes] |