PIGP
entrez
51227
canonical
uniprot
P57054
canonical
ensembl
ENSG00000185808
resolver
ensp
ENSP00000353719
resolver
ensp
ENSP00000382049
resolver
ensp
ENSP00000382053
resolver
ensp
ENSP00000420037
resolver
genesymbol
PIGP
resolver
genesymbol_syn
DCRC
resolver
genesymbol_syn
DSCR5
resolver
genesymbol_syn
DSCRC
resolver
hgnc
HGNC:3046
resolver
uniprot
A0A0C4DH71
resolver
uniprot
B2RB18
resolver
uniprot
B2RE99
resolver
uniprot
B5BU92
resolver
uniprot
D3DSG7
resolver
uniprot
J3KR75
resolver
uniprot
Q53Y28
resolver
uniprot
Q96KI1
resolver
uniprot
Q9NZA6
resolver
uniprot_entry
PIGP_HUMAN
resolver
uniprot_sec
A0A0C4DH71
resolver
uniprot_sec
B2RB18
resolver
uniprot_sec
B2RE99
resolver
uniprot_sec
B5BU92
resolver
uniprot_sec
D3DSG7
resolver
uniprot_sec
J3KR75
resolver
uniprot_sec
Q53Y28
resolver
uniprot_sec
Q96KI1
resolver
uniprot_sec
Q9NZA6
resolver
amino_acid_sequence
MVPRSTSLTLIVFLFHRLSKAPGKMVENSPSPLPERAIYGFVLFLSSQFGFILYLVWAFIPESWLNSLGLTYWPQKYWAVALPVYLLIAIVIGYVLLFGINMMSTSPLDSIHTITDNYAKNQQQKKYQEEAIPALRDISISEVNQMFFLAAKELYTKN
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 55 (DEE55) [MIM:617599]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE55 is an autosomal recessive condition. {ECO:0000269|PubMed:28334793}. 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:10944123, ECO:0000269|PubMed:16162815, ECO:0000269|PubMed:28334793}.
uniprot
proteins
mass_dalton
18089
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:10944123, ECO:0000269|PubMed:16162815, ECO:0000269|PubMed:28334793}.
uniprot
proteins
protein_family
PIGP family
uniprot
proteins
pubmed
10814524
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
10907851
uniprot
proteins
pubmed
10944123
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16162815
uniprot
proteins
pubmed
19054851
uniprot
proteins
pubmed
28334793
uniprot
proteins
sequence_length
158
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 40..60; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 80..100; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins