PIGY
entrez
84992
canonical
uniprot
Q3MUY2
canonical
ensembl
ENSG00000255072
resolver
ensp
ENSP00000432688
resolver
enst
ENST00000527353
resolver
genesymbol
PIGY
resolver
hgnc
HGNC:28213
resolver
uniprot_entry
PIGY_HUMAN
resolver
amino_acid_sequence
MFLSLPTLTVLIPLVSLAGLFYSASVEENFPQGCTSTASLCFYSLLLPITIPVYVFFHLWTWMGIKLFRHN
uniprot
proteins
disease_involvement
DISEASE: Hyperphosphatasia with impaired intellectual development syndrome 6 (HPMRS6) [MIM:616809]: An autosomal recessive, multisystem disorder characterized by severe developmental delay, dysmorphism, seizures, cataracts, and early death in some patients. {ECO:0000269|PubMed:26293662}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis (PubMed:16162815). May act by regulating the catalytic subunit PIGA (PubMed:16162815). {ECO:0000269|PubMed:16162815}.
uniprot
proteins
mass_dalton
8058
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:16162815}.
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16162815
uniprot
proteins
pubmed
26293662
uniprot
proteins
sequence_length
71
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16162815}; Multi-pass membrane protein {ECO:0000269|PubMed:16162815}.
uniprot
proteins
transmembrane_region
TRANSMEM 4..26; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 45..65; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins