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Details on Person UniProt:Q9H490 PIGU
| Class:Id | ReferenceGeneProduct:61730 |
|---|---|
| _chainChangeLog | initiator methionine:1 added on Sat February 7 2015;chain:2-435 added on Sat February 7 2015;initiator methionine:1 for 61730 removed on Fri Nov 03 2023;initiator methionine: for 61730 added on Fri Nov 03 2023;initiator methionine: for 61730 removed on Fri Aug 15 2025;initiator methionine:1 for 61730 added on Fri Aug 15 2025 |
| _displayName | UniProt:Q9H490 PIGU |
| _timestamp | 2025-08-15 21:09:56 |
| chain | initiator methionine:1 chain:2-435 |
| checksum | 65FDD796AB533027 |
| comment | FUNCTION Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis (PubMed:12802054, PubMed:31353022, PubMed:34576938, PubMed:35165458, PubMed:35551457, PubMed:37684232). Binds the lipid portion of GPI-anchor (PubMed:37684232). May act as an organizer in the transmembrane layer to recruit other subunits, and thus is essential for assembly of the complex (PubMed:35165458, PubMed:35551457).PATHWAY Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.SUBUNIT Heteropentamer (PubMed:35551457). Part of the GPI-anchor transamidase complex, consisting of PIGK, PIGT, PIGS, PIGU and GAA1 (PubMed:12802054, PubMed:34576938, PubMed:35165458, PubMed:35551457, PubMed:37684232).INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the PIGU family. |
| description | recommendedName: fullName evidence="8"GPI-anchor transamidase component PIGU alternativeName: Cell division cycle protein 91-like 1 shortName: Protein CDC91-like 1 alternativeName: GPI transamidase component PIG-U alternativeName: Phosphatidylinositol glycan anchor biosynthesis class U protein |
| geneName | PIGU CDC91L1 PSEC0205 UNQ3055/PRO9875 |
| identifier | Q9H490 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Direct protein sequencing Disease variant Endoplasmic reticulum Epilepsy GPI-anchor biosynthesis Intellectual disability Membrane Proteomics identification Reference proteome Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | PIGU |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8962473] ENSEMBL:ENSG00000101464 PIGU [Homo sapiens] |
| secondaryIdentifier | PIGU_HUMAN Q7Z489 Q8N2F2 |
| sequenceLength | 435 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:152110] UniProt:Q9H490-2 PIGU [Homo sapiens] [ReferenceIsoform:414239] UniProt:Q9H490-1 PIGU [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:162835] PIGU [endoplasmic reticulum membrane] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q9H490 PIGU (61730)
