PIGF
entrez
5281
canonical
uniprot
Q07326
canonical
ensembl
ENSG00000151665
resolver
ensp
ENSP00000281382
resolver
ensp
ENSP00000302663
resolver
ensp
ENSP00000410361
resolver
ensp
ENSP00000661943
resolver
ensp
ENSP00000661948
resolver
enst
ENST00000420164
resolver
genesymbol
PIGF
resolver
hgnc
HGNC:8962
resolver
uniprot
H7C392
resolver
uniprot
Q6IB04
resolver
uniprot
Q8WW20
resolver
uniprot_entry
H7C392_HUMAN
resolver
uniprot_entry
PIGF_HUMAN
resolver
uniprot_entry
Q6IB04_HUMAN
resolver
uniprot_sec
Q8WW20
resolver
amino_acid_sequence
MKDNDIKRLLYTHLLCIFSIILSVFIPSLFLENFSILETHLTWLCICSGFVTAVNLVLYLVVKPNTSSKRSSLSHKVTGFLKCCIYFLMSCFSFHVIFVLYGAPLIELALETFLFAVILSTFTTVPCLCLLGPNLKAWLRVFSRNGVTSIWENSLQITTISSFVGAWLGALPIPLDWERPWQVWPISCTLGATFGYVAGLVISPLWIYWNRKQLTYKNN
uniprot
proteins
disease_involvement
DISEASE: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) [MIM:619356]: An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, seizures or tonic posturing, dysmorphic facial features, and hypoplastic terminal phalanges and nails. {ECO:0000269|PubMed:33386993}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Stabilizing subunit of the ethanolamine phosphate transferase 3 and ethanolamine phosphate transferase 2 complexes that sequentially transfer an ethanolamine phosphate (EtNP) from a phosphatidylethanolamine (PE) to the 6-OH position of the third alpha-1,2-linked mannose and the second alpha-1,6-linked mannose of a 2-acyl-6-[alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H6) intermediate to generate a 2-acyl-6-[6-phosphoethanolamine-alpha-D-mannosyl-(1->2)-6-phosphoethanolamine-alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H8) (PubMed:15632136). Participates in the tenth and eleventh steps of the glycosylphosphatidylinositol-anchor biosynthesis, in association with PIGO and PIGG, respectively (PubMed:15632136, PubMed:33386993). {ECO:0000269|PubMed:15632136, ECO:0000269|PubMed:33386993}.
uniprot
proteins
mass_dalton
24890
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:15632136}.
uniprot
proteins
protein_family
PIGF family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15632136
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
33386993
uniprot
proteins
pubmed
8463218
uniprot
proteins
sequence_length
219
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 11..31; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 42..62; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 86..106; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 113..133; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 155..175; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 189..209; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins