Gene: HAAO

Basic information

Tag Content
Uniprot ID P46952; A6NE56; B4DIN2; Q53QZ7; Q8N6N9;
Entrez ID 23498
Genbank protein ID BAG58544.1; CAG33344.1; EAX00309.1; AAY14701.1; AAH29510.1; CAA82618.1;
Genbank nucleotide ID NM_012205.2
Ensembl protein ID ENSP00000294973
Ensembl nucleotide ID ENSG00000162882
Gene name 3-hydroxyanthranilate 3,4-dioxygenase
Gene symbol HAAO
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate.
Sequence
MERRLGVRAW VKENRGSFQP PVCNKLMHQE QLKVMFIGGP NTRKDYHIEE GEEVFYQLEG 60
DMVLRVLEQG KHRDVVIRQG EIFLLPARVP HSPQRFANTV GLVVERRRLE TELDGLRYYV 120
GDTMDVLFEK WFYCKDLGTQ LAPIIQEFFS SEQYRTGKPI PDQLLKEPPF PLSTRSIMEP 180
MSLDAWLDSH HRELQAGTPL SLFGDTYETQ VIAYGQGSSE GLRQNVDVWL WQLEGSSVVT 240
MGGRRLSLAP DDSLLVLAGT SYAWERTQGS VALSVTQDPA CKKPLG 286

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)