PIGH
entrez
5283
canonical
uniprot
Q14442
canonical
ensembl
ENSG00000100564
resolver
ensp
ENSP00000216452
resolver
ensp
ENSP00000453394
resolver
ensp
ENSP00000666113
resolver
ensp
ENSP00000775921
resolver
enst
ENST00000216452
resolver
enst
ENST00000560722
resolver
genesymbol
PIGH
resolver
hgnc
HGNC:8964
resolver
uniprot
B2RAA4
resolver
uniprot
H0YLY9
resolver
uniprot_entry
H0YLY9_HUMAN
resolver
uniprot_entry
PIGH_HUMAN
resolver
uniprot_sec
B2RAA4
resolver
amino_acid_sequence
MEDERSFSDICGGRLALQRRYYSPSCREFCLSCPRLSLRSLTAVTCTVWLAAYGLFTLCENSMILSAAIFITLLGLLGYLHFVKIDQETLLIIDSLGIQMTSSYASGKESTTFIEMGKVKDIVINEAIYMQKVIYYLCILLKDPVEPHGISQVVPVFQSAKPRLDCLIEVYRSCQEILAHQKATSTSP
uniprot
proteins
disease_involvement
DISEASE: Glycosylphosphatidylinositol biosynthesis defect 17 (GPIBD17) [MIM:618010]: An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Clinical features include learning disabilities, mild-to-moderate developmental delay, seizures of variable severity, aggressive or over-friendly behavior, and autistic features. {ECO:0000269|PubMed:29573052, ECO:0000269|PubMed:29603516, ECO:0000269|PubMed:33156547, ECO:0000269|PubMed:35445667}. 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:9463366}.
uniprot
proteins
mass_dalton
21081
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:16162815, ECO:0000269|PubMed:9463366}.
uniprot
proteins
protein_family
PIGH family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16162815
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
29573052
uniprot
proteins
pubmed
29603516
uniprot
proteins
pubmed
33156547
uniprot
proteins
pubmed
35445667
uniprot
proteins
pubmed
8407896
uniprot
proteins
pubmed
8900170
uniprot
proteins
pubmed
9463366
uniprot
proteins
sequence_length
188
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:8900170}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 40..60; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 63..83; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins