PIGU
entrez
128869
canonical
uniprot
Q9H490
canonical
ensembl
ENSG00000101464
resolver
ensp
ENSP00000217446
resolver
ensp
ENSP00000567651
resolver
genesymbol
PIGU
resolver
genesymbol_syn
CDC91L1
resolver
hgnc
HGNC:15791
resolver
uniprot
Q7Z489
resolver
uniprot
Q8N2F2
resolver
uniprot_entry
PIGU_HUMAN
resolver
uniprot_sec
Q7Z489
resolver
uniprot_sec
Q8N2F2
resolver
amino_acid_sequence
MAAPLVLVLVVAVTVRAALFRSSLAEFISERVEVVSPLSSWKRVVEGLSLLDLGVSPYSGAVFHETPLIIYLFHFLIDYAELVFMITDALTAIALYFAIQDFNKVVFKKQKLLLELDQYAPDVAELIRTPMEMRYIPLKVALFYLLNPYTILSCVAKSTCAINNTLIAFFILTTIKGSAFLSAIFLALATYQSLYPLTLFVPGLLYLLQRQYIPVKMKSKAFWIFSWEYAMMYVGSLVVIICLSFFLLSSWDFIPAVYGFILSVPDLTPNIGLFWYFFAEMFEHFSLFFVCVFQINVFFYTIPLAIKLKEHPIFFMFIQIAVIAIFKSYPTVGDVALYMAFFPVWNHLYRFLRNIFVLTCIIIVCSLLFPVLWHLWIYAGSANSNFFYAITLTFNVGQILLISDYFYAFLRREYYLTHGLYLTAKDGTEAMLVLK
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis (NEDBSS) [MIM:618590]: An autosomal recessive disorder characterized by global developmental delay, severe-to-profound intellectual disability, muscular hypotonia, seizures, brain anomalies, including thin corpus callosum and cerebellar atrophy, scoliosis, and mild facial dysmorphism. {ECO:0000269|PubMed:31353022}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000269|PubMed:12802054, ECO:0000269|PubMed:31353022, ECO:0000269|PubMed:34576938, ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000269|PubMed:37684232}.
uniprot
proteins
mass_dalton
50052
uniprot
proteins
mutagenesis
MUTAGEN 67; /note="P->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 95; /note="L->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 144; /note="Y->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 150; /note="T->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 153; /note="S->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 167; /note="I->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 225; /note="F->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 237; /note="L->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 283; /note="E->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 285; /note="F->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 375..376; /note="LW->AA: Decreased function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 406; /note="F->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 411; /note="R->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:12802054, ECO:0000269|PubMed:31353022, ECO:0000269|PubMed:34576938, ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000269|PubMed:37684232}.
uniprot
proteins
protein_family
PIGU family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12802054
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
31353022
uniprot
proteins
pubmed
34576938
uniprot
proteins
pubmed
35165458
uniprot
proteins
pubmed
35551457
uniprot
proteins
pubmed
37684232
uniprot
proteins
sequence_length
435
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:35165458, ECO:0000305|PubMed:35551457}; Multi-pass membrane protein {ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457}.
uniprot
proteins
transmembrane_region
TRANSMEM 4..22; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000312|PDB:7W72, ECO:0000312|PDB:7WLD"; TRANSMEM 79..99; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000312|PDB:7W72, ECO:0000312|PDB:7WLD"; TRANSMEM 137..158; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000312|PDB:7W72, ECO:0000312|PDB:7WLD"; TRANSMEM 159..178; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000312|PDB:7W72, ECO:0000312|PDB:7WLD"; TRANSMEM 179..194; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000312|PDB:7W72, ECO:0000312|PDB:7WLD"; TRANSMEM 195..205; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000312|PDB:7W72, ECO:0000312|PDB:7WLD"; TRANSMEM 223..244; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000312|PDB:7W72, ECO:0000312|PDB:7WLD"; TRANSMEM 287..306; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000312|PDB:7W72, ECO:0000312|PDB:7WLD"; TRANSMEM 312..331; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000312|PDB:7W72, ECO:0000312|PDB:7WLD"; TRANSMEM 332..345; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000312|PDB:7W72, ECO:0000312|PDB:7WLD"; TRANSMEM 355..372; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000312|PDB:7W72, ECO:0000312|PDB:7WLD"; TRANSMEM 385..406; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000312|PDB:7W72, ECO:0000312|PDB:7WLD
uniprot
proteins