PIGQ
entrez
9091
canonical
uniprot
Q9BRB3
canonical
ensembl
ENSG00000007541
resolver
ensp
ENSP00000026218
resolver
ensp
ENSP00000326674
resolver
genesymbol
PIGQ
resolver
genesymbol_syn
GPI1
resolver
hgnc
HGNC:14135
resolver
uniprot
A2IDE1
resolver
uniprot
B2RAU6
resolver
uniprot
D3DU52
resolver
uniprot
O14927
resolver
uniprot
Q96G00
resolver
uniprot
Q96S22
resolver
uniprot
Q9UJH4
resolver
uniprot_entry
B2RAU6_HUMAN
resolver
uniprot_entry
PIGQ_HUMAN
resolver
uniprot_sec
A2IDE1
resolver
uniprot_sec
D3DU52
resolver
uniprot_sec
O14927
resolver
uniprot_sec
Q96G00
resolver
uniprot_sec
Q96S22
resolver
uniprot_sec
Q9UJH4
resolver
amino_acid_sequence
MVLKAFFPTCCVSTDSGLLVGRWVPEQSSAVVLAVLHFPFIPIQVKQLLAQVRQASQVGVAVLGTWCHCRQEPEESLGRFLESLGAVFPHEPWLRLCRERGGTFWSCEATHRQAPTAPGAPGEDQVMLIFYDQRQVLLSQLHLPTVLPDRQAGATTASTGGLAAVFDTVARSEVLFRSDRFDEGPVRLSHWQSEGVEASILAELARRASGPICLLLASLLSLVSAVSACRVFKLWPLSFLGSKLSTCEQLRHRLEHLTLIFSTRKAENPAQLMRKANTVASVLLDVALGLMLLSWLHGRSRIGHLADALVPVADHVAEELQHLLQWLMGAPAGLKMNRALDQVLGRFFLYHIHLWISYIHLMSPFVEHILWHVGLSACLGLTVALSLLSDIIALLTFHIYCFYVYGARLYCLKIHGLSSLWRLFRGKKWNVLRQRVDSCSYDLDQLFIGTLLFTILLFLLPTTALYYLVFTLLRLLVVAVQGLIHLLVDLINSLPLYSLGLRLCRPYRLADKPTALQPRGAHLPPPQLWLPPQALLGRPVPQAVPWGAHLPLEAERGQAGLRELLARLAPPHGHSQPSALPGWHQLSWRMSCALWTLLCAPEHGRPCYHTLGLEVIGSEQMWGWPARLAALHHWHCLPWDPLPTCCGHHGGEHSNPRCPEHCPMPTLCTQVQRVRPPQQPQVEGWSPWGLPSGSALAVGVEGPCQDEPPSPRHPLAPSAEQHPASGGLKQSLTPVPSGPGPSLPEPHGVYLRMFPGEVAL
uniprot
proteins
disease_involvement
DISEASE: Multiple congenital anomalies-hypotonia-seizures syndrome 4 (MCAHS4) [MIM:618548]: An autosomal recessive syndrome characterized by onset of refractory seizures in the first months of life. Additional clinical features include severe global developmental delay, dysmorphic facial features, and skeletal, renal and ophthalmic anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI). {ECO:0000269|PubMed:24463883, ECO:0000269|PubMed:25558065, ECO:0000269|PubMed:27513193, ECO:0000269|PubMed:31148362}. 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
84082
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:16162815, ECO:0000269|PubMed:9463366}.
uniprot
proteins
protein_family
PIGQ family
uniprot
proteins
pubmed
10944123
uniprot
proteins
pubmed
11157797
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16162815
uniprot
proteins
pubmed
24463883
uniprot
proteins
pubmed
25558065
uniprot
proteins
pubmed
27513193
uniprot
proteins
pubmed
29388939
uniprot
proteins
pubmed
31148362
uniprot
proteins
pubmed
9463366
uniprot
proteins
pubmed
9729469
uniprot
proteins
sequence_length
760
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 278..298; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 349..371; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 378..400; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 446..468; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 475..497; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins