GNPAT
entrez
8443
canonical
uniprot
O15228
canonical
ensembl
ENSG00000116906
resolver
ensp
ENSP00000355607
resolver
ensp
ENSP00000521740
resolver
ensp
ENSP00000521743
resolver
genesymbol
GNPAT
resolver
genesymbol_syn
DAPAT
resolver
genesymbol_syn
DHAPAT
resolver
hgnc
HGNC:4416
resolver
uniprot
B4DNM9
resolver
uniprot
Q5TBH7
resolver
uniprot
Q9BWC2
resolver
uniprot_entry
GNPAT_HUMAN
resolver
uniprot_sec
B4DNM9
resolver
uniprot_sec
Q5TBH7
resolver
uniprot_sec
Q9BWC2
resolver
amino_acid_sequence
MESSSSSNSYFSVGPTSPSAVVLLYSKELKKWDEFEDILEERRHVSDLKFAMKCYTPLVYKGITPCKPIDIKCSVLNSEEIHYVIKQLSKESLQSVDVLREEVSEILDEMSHKLRLGAIRFCAFTLSKVFKQIFSKVCVNEEGIQKLQRAIQEHPVVLLPSHRSYIDFLMLSFLLYNYDLPVPVIAAGMDFLGMKMVGELLRMSGAFFMRRTFGGNKLYWAVFSEYVKTMLRNGYAPVEFFLEGTRSRSAKTLTPKFGLLNIVMEPFFKREVFDTYLVPISISYDKILEETLYVYELLGVPKPKESTTGLLKARKILSENFGSIHVYFGDPVSLRSLAAGRMSRSSYNLVPRYIPQKQSEDMHAFVTEVAYKMELLQIENMVLSPWTLIVAVLLQNRPSMDFDALVEKTLWLKGLTQAFGGFLIWPDNKPAEEVVPASILLHSNIASLVKDQVILKVDSGDSEVVDGLMLQHITLLMCSAYRNQLLNIFVRPSLVAVALQMTPGFRKEDVYSCFRFLRDVFADEFIFLPGNTLKDFEEGCYLLCKSEAIQVTTKDILVTEKGNTVLEFLVGLFKPFVESYQIICKYLLSEEEDHFSEEQYLAAVRKFTSQLLDQGTSQCYDVLSSDVQKNALAACVRLGVVEKKKINNNCIFNVNEPATTKLEEMLGCKTPIGKPATAKL
uniprot
proteins
disease_involvement
DISEASE: Rhizomelic chondrodysplasia punctata 2 (RCDP2) [MIM:222765]: A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity. {ECO:0000269|PubMed:11152660, ECO:0000269|PubMed:21990100, ECO:0000269|PubMed:9536089}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.42
uniprot
proteins
function
FUNCTION: Dihydroxyacetonephosphate acyltransferase catalyzing the first step in the biosynthesis of plasmalogens, a subset of phospholipids that differ from other glycerolipids by having an alkyl chain attached through a vinyl ether linkage at the sn-1 position of the glycerol backbone, and which unique physical properties have an impact on various aspects of cell signaling and membrane biology. {ECO:0000269|PubMed:11152660, ECO:0000269|PubMed:15687349}.
uniprot
proteins
mass_dalton
77188
uniprot
proteins
pathway_participation
PATHWAY: Membrane lipid metabolism; glycerophospholipid metabolism. {ECO:0000269|PubMed:11152660, ECO:0000269|PubMed:15687349}.
uniprot
proteins
protein_family
GPAT/DAPAT family
uniprot
proteins
pubmed
10395968
uniprot
proteins
pubmed
11152660
uniprot
proteins
pubmed
11237722
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15687349
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21990100
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
9459311
uniprot
proteins
pubmed
9536089
uniprot
proteins
sequence_length
680
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:15687349}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9ES71}; Matrix side {ECO:0000250|UniProtKB:Q9ES71}. Note=Exclusively localized to the lumenal side of the peroxisomal membrane. {ECO:0000250|UniProtKB:Q9ES71}.
uniprot
proteins