PIGS
entrez
94005
canonical
uniprot
Q96S52
canonical
ensembl
ENSG00000087111
resolver
ensp
ENSP00000309430
resolver
genesymbol
PIGS
resolver
hgnc
HGNC:14937
resolver
uniprot
Q6UVX6
resolver
uniprot
Q8NBL9
resolver
uniprot
Q96IR5
resolver
uniprot_entry
PIGS_HUMAN
resolver
uniprot_entry
Q8NBL9_HUMAN
resolver
uniprot_entry
Q96IR5_HUMAN
resolver
uniprot_sec
Q6UVX6
resolver
amino_acid_sequence
MAAAGAAATHLEVARGKRAALFFAAVAIVLGLPLWWKTTETYRASLPYSQISGLNALQLRLMVPVTVVFTRESVPLDDQEKLPFTVVHEREIPLKYKMKIKCRFQKAYRRALDHEEEALSSGSVQEAEAMLDEPQEQAEGSLTVYVISEHSSLLPQDMMSYIGPKRTAVVRGIMHREAFNIIGRRIVQVAQAMSLTEDVLAAALADHLPEDKWSAEKRRPLKSSLGYEITFSLLNPDPKSHDVYWDIEGAVRRYVQPFLNALGAAGNFSVDSQILYYAMLGVNPRFDSASSSYYLDMHSLPHVINPVESRLGSSAASLYPVLNFLLYVPELAHSPLYIQDKDGAPVATNAFHSPRWGGIMVYNVDSKTYNASVLPVRVEVDMVRVMEVFLAQLRLLFGIAQPQLPPKCLLSGPTSEGLMTWELDRLLWARSVENLATATTTLTSLAQLLGKISNIVIKDDVASEVYKAVAAVQKSAEELASGHLASAFVASQEAVTSSELAFFDPSLLHLLYFPDDQKFAIYIPLFLPMAVPILLSLVKIFLETRKSWRKPEKTD
uniprot
proteins
disease_involvement
DISEASE: Glycosylphosphatidylinositol biosynthesis defect 18 (GPIBD18) [MIM:618143]: An autosomal recessive disorder with onset in utero or early infancy and characterized by severe global developmental delay, seizures, hypotonia, weakness, ataxia, and dysmorphic facial features. {ECO:0000269|PubMed:30269814}. 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. {ECO:0000269|PubMed:11483512, ECO:0000269|PubMed:30269814, ECO:0000269|PubMed:34576938, ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000269|PubMed:37684232}.
uniprot
proteins
mass_dalton
61656
uniprot
proteins
mutagenesis
MUTAGEN 43; /note="R->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 47; /note="P->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 267; /note="N->Q: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 272; /note="S->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 276; /note="Y->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 301; /note="P->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 335; /note="P->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 370; /note="N->Q: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 444; /note="S->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 459..460; /note="DD->AA: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 515..516; /note="DD->AA: 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:11483512, ECO:0000269|PubMed:30269814, ECO:0000269|PubMed:34576938, ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000269|PubMed:37684232}.
uniprot
proteins
protein_family
PIGS family
uniprot
proteins
pubmed
11483512
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30269814
uniprot
proteins
pubmed
34576938
uniprot
proteins
pubmed
35165458
uniprot
proteins
pubmed
35551457
uniprot
proteins
pubmed
37684232
uniprot
proteins
sequence_length
555
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 19..39; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0007744|PDB:7W72, ECO:0007744|PDB:7WLD"; TRANSMEM 518..532; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0007744|PDB:7W72, ECO:0007744|PDB:7WLD
uniprot
proteins