PIGC
entrez
5279
canonical
uniprot
Q92535
canonical
ensembl
ENSG00000135845
resolver
ensp
ENSP00000356701
resolver
ensp
ENSP00000356702
resolver
ensp
ENSP00000533034
resolver
ensp
ENSP00000533035
resolver
ensp
ENSP00000533036
resolver
ensp
ENSP00000533037
resolver
ensp
ENSP00000604638
resolver
ensp
ENSP00000604639
resolver
ensp
ENSP00000622405
resolver
ensp
ENSP00000622406
resolver
enst
ENST00000344529
resolver
enst
ENST00000367728
resolver
enst
ENST00000862975
resolver
enst
ENST00000862976
resolver
enst
ENST00000862977
resolver
enst
ENST00000862978
resolver
enst
ENST00000934579
resolver
enst
ENST00000934580
resolver
enst
ENST00000952346
resolver
enst
ENST00000952347
resolver
genesymbol
PIGC
resolver
genesymbol_syn
GPI2
resolver
hgnc
HGNC:8960
resolver
uniprot
O14491
resolver
uniprot_entry
PIGC_HUMAN
resolver
uniprot_sec
O14491
resolver
amino_acid_sequence
MYAQPVTNTKEVKWQKVLYERQPFPDNYVDRRFLEELRKNIHARKYQYWAVVFESSVVIQQLCSVCVFVVIWWYMDEGLLAPHWLLGTGLASSLIGYVLFDLIDGGEGRKKSGQTRWADLKSALVFITFTYGFSPVLKTLTESVSTDTIYAMSVFMLLGHLIFFDYGANAAIVSSTLSLNMAIFASVCLASRLPRSLHAFIMVTFAIQIFALWPMLQKKLKACTPRSYVGVTLLFAFSAVGGLLSISAVGAVLFALLLMSISCLCPFYLIRLQLFKENIHGPWDEAEIKEDLSRFLS
uniprot
proteins
disease_involvement
DISEASE: Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16) [MIM:617816]: An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, and seizures. {ECO:0000269|PubMed:27694521}. 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. {ECO:0000269|PubMed:16162815, ECO:0000269|PubMed:27694521, ECO:0000269|PubMed:8806613}.
uniprot
proteins
mass_dalton
33583
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:16162815}.
uniprot
proteins
protein_family
PIGC family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16162815
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
27694521
uniprot
proteins
pubmed
8806613
uniprot
proteins
pubmed
9325057
uniprot
proteins
pubmed
9463366
uniprot
proteins
sequence_length
297
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:8806613}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 51..71; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 80..100; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 117..137; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 153..173; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 174..194; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 196..216; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 227..244; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 250..270; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins