PIGW
entrez
284098
canonical
uniprot
Q7Z7B1
canonical
ensembl
ENSG00000275600
resolver
ensembl
ENSG00000277161
resolver
ensp
ENSP00000480021
resolver
ensp
ENSP00000481144
resolver
ensp
ENSP00000482202
resolver
ensp
ENSP00000488033
resolver
ensp
ENSP00000608240
resolver
enst
ENST00000614443
resolver
enst
ENST00000616581
resolver
enst
ENST00000620233
resolver
enst
ENST00000631508
resolver
enst
ENST00000938181
resolver
genesymbol
PIGW
resolver
hgnc
HGNC:23213
resolver
uniprot
Q8N9G3
resolver
uniprot_entry
PIGW_HUMAN
resolver
uniprot_sec
Q8N9G3
resolver
amino_acid_sequence
MSEKQMKEAFVSNLNGTTVLEITQGLCFPAFCILCRGFLIIFSQYLCSFSPTWKTRFLTDFVVLIVPMVATLTIWASFILLELLGVIIFGAGLLYQIYRRRTCYARLPFLKILEKFLNISLESEYNPAISCFRVITSAFTAIAILAVDFPLFPRRFAKTELYGTGAMDFGVGGFVFGSAMVCLEVRRRKYMEGSKLHYFTNSLYSVWPLVFLGIGRLAIIKSIGYQEHLTEYGVHWNFFFTIIVVKLITPLLLIIFPLNKSWIIALGITVLYQLALDFTSLKRLILYGTDGSGTRVGLLNANREGIISTLGYVAIHMAGVQTGLYMHKNRSHIKDLIKVACFLLLAAISLFISLYVVQVNVEAVSRRMANLAFCIWIVASSLILLSSLLLGDIILSFAKFLIKGALVPCSWKLIQSPVTNKKHSESLVPEAERMEPSLCLITALNRKQLIFFLLSNITTGLINLMVDTLHSSTLWALFVVNLYMFSNCLIVYVLYLQDKTVQFW
uniprot
proteins
disease_involvement
DISEASE: Glycosylphosphatidylinositol biosynthesis defect 11 (GPIBD11) [MIM:616025]: An autosomal recessive neurologic disorder characterized by developmental delay, intellectual disability, tonic seizures associated with hypsarrhythmia, dysmorphic facial features, and elevated serum alkaline phosphatase. {ECO:0000269|PubMed:24367057}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.-.-
uniprot
proteins
function
FUNCTION: Acyltransferase that catalyzes the acyl transfer from an acyl-CoA at the 2-OH position of the inositol ring of a 6-(alpha-D-glucosaminyl)-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol (glucosaminyl phosphatidylinositol, GlcN-PI) to generate a 2-acyl-6-alpha-D-glucosaminyl-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol (glucosaminyl acyl phosphatidylinositol, GlcN-(acyl)PI) and participates in the fourth step of GPI-anchor biosynthesis (By similarity). Required for the transport of GPI-anchored proteins to the plasma membrane (PubMed:24367057). Acylation during GPI-anchor biosynthesis is not essential for the subsequent mannosylation and is usually removed soon after the attachment of GPIs to proteins (By similarity). {ECO:0000250|UniProtKB:Q7TSN4, ECO:0000269|PubMed:24367057}.
uniprot
proteins
mass_dalton
56882
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000250|UniProtKB:Q7TSN4}.
uniprot
proteins
protein_family
PIGW family
uniprot
proteins
pubmed
14517336
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24367057
uniprot
proteins
sequence_length
504
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q7TSN4}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q7TSN4}.
uniprot
proteins
transmembrane_region
TRANSMEM 22..42; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 57..75; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 82..98; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 132..152; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 163..183; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 203..223; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 238..258; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 261..281; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 306..326; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 339..359; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 371..391; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 449..469; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 474..494; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins