AGPS
entrez
8540
canonical
uniprot
O00116
canonical
ensembl
ENSG00000018510
resolver
ensp
ENSP00000264167
resolver
ensp
ENSP00000504957
resolver
ensp
ENSP00000505333
resolver
ensp
ENSP00000505342
resolver
ensp
ENSP00000506484
resolver
ensp
ENSP00000677243
resolver
enst
ENST00000264167
resolver
enst
ENST00000679478
resolver
enst
ENST00000679994
resolver
enst
ENST00000680155
resolver
enst
ENST00000681449
resolver
genesymbol
AGPS
resolver
hgnc
HGNC:327
resolver
uniprot
A0A7P0Z435
resolver
uniprot
A5D8U9
resolver
uniprot
B7Z3Q4
resolver
uniprot
Q2TU35
resolver
uniprot_entry
A0A7P0Z435_HUMAN
resolver
uniprot_entry
ADAS_HUMAN
resolver
uniprot_entry
B7Z3Q4_HUMAN
resolver
uniprot_sec
A5D8U9
resolver
uniprot_sec
Q2TU35
resolver
amino_acid_sequence
MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYGLMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQLKESGYCTGHEPDSLEFSTVGGWVSTRASGMKKNIYGNIEDLVVHIKMVTPRGIIEKSCQGPRMSTGPDIHHFIMGSEGTLGVITEATIKIRPVPEYQKYGSVAFPNFEQGVACLREIAKQRCAPASIRLMDNKQFQFGHALKPQVSSIFTSFLDGLKKFYITKFKGFDPNQLSVATLLFEGDREKVLQHEKQVYDIAAKFGGLAAGEDNGQRGYLLTYVIAYIRDLALEYYVLGESFETSAPWDRVVDLCRNVKERITRECKEKGVQFAPFSTCRVTQTYDAGACIYFYFAFNYRGISDPLTVFEQTEAAAREEILANGGSLSHHHGVGKLRKQWLKESISDVGFGMLKSVKEYVDPNNIFGNRNLL
uniprot
proteins
disease_involvement
DISEASE: Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]: 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:9553082}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.5.1.26
uniprot
proteins
function
FUNCTION: Catalyzes the exchange of the acyl chain in acyl-dihydroxyacetonephosphate (acyl-DHAP) for a long chain fatty alcohol, yielding the first ether linked intermediate, i.e. alkyl-dihydroxyacetonephosphate (alkyl-DHAP), in the pathway of ether lipid biosynthesis. {ECO:0000269|PubMed:8399344, ECO:0000269|PubMed:9553082}.
uniprot
proteins
mass_dalton
72912
uniprot
proteins
pathway_participation
PATHWAY: Glycerolipid metabolism; ether lipid biosynthesis.
uniprot
proteins
protein_family
FAD-binding oxidoreductase/transferase type 4 family
uniprot
proteins
pubmed
11152660
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21990100
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
8399344
uniprot
proteins
pubmed
9187299
uniprot
proteins
pubmed
9553082
uniprot
proteins
sequence_length
658
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000250|UniProtKB:P97275}. Peroxisome {ECO:0000250|UniProtKB:P97275}.
uniprot
proteins