HAAO
entrez
23498
canonical
uniprot
P46952
canonical
ensembl
ENSG00000162882
resolver
ensp
ENSP00000294973
resolver
ensp
ENSP00000548497
resolver
genesymbol
HAAO
resolver
hgnc
HGNC:4796
resolver
uniprot
A6NE56
resolver
uniprot
B4DIN2
resolver
uniprot
Q53QZ7
resolver
uniprot
Q8N6N9
resolver
uniprot_entry
3HAO_HUMAN
resolver
uniprot_sec
A6NE56
resolver
uniprot_sec
B4DIN2
resolver
uniprot_sec
Q53QZ7
resolver
uniprot_sec
Q8N6N9
resolver
amino_acid_sequence
MERRLGVRAWVKENRGSFQPPVCNKLMHQEQLKVMFIGGPNTRKDYHIEEGEEVFYQLEGDMVLRVLEQGKHRDVVIRQGEIFLLPARVPHSPQRFANTVGLVVERRRLETELDGLRYYVGDTMDVLFEKWFYCKDLGTQLAPIIQEFFSSEQYRTGKPIPDQLLKEPPFPLSTRSIMEPMSLDAWLDSHHRELQAGTPLSLFGDTYETQVIAYGQGSSEGLRQNVDVWLWQLEGSSVVTMGGRRLSLAPDDSLLVLAGTSYAWERTQGSVALSVTQDPACKKPLG
uniprot
proteins
disease_involvement
DISEASE: Vertebral, cardiac, renal, and limb defects syndrome 1 (VCRL1) [MIM:617660]: An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. {ECO:0000269|PubMed:28792876}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.13.11.6
uniprot
proteins
function
FUNCTION: Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate. {ECO:0000255|HAMAP-Rule:MF_03019, ECO:0000269|PubMed:28792876, ECO:0000269|PubMed:7514594}.
uniprot
proteins
mass_dalton
32556
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; NAD(+) biosynthesis; quinolinate from L-kynurenine: step 3/3. {ECO:0000255|HAMAP-Rule:MF_03019, ECO:0000269|PubMed:28792876}.
uniprot
proteins
protein_family
3-HAO family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28375145
uniprot
proteins
pubmed
28792876
uniprot
proteins
pubmed
7514594
uniprot
proteins
sequence_length
286
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000305|PubMed:7514594}.
uniprot
proteins