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.