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Protein

3-hydroxyanthranilate 3,4-dioxygenase

Gene

HAAO

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate.UniRule annotation2 Publications

Catalytic activityi

3-hydroxyanthranilate + O2 = 2-amino-3-carboxymuconate semialdehyde.UniRule annotation2 Publications

Cofactori

Fe2+UniRule annotation2 Publications

Pathwayi: NAD(+) biosynthesis

This protein is involved in step 3 of the subpathway that synthesizes quinolinate from L-kynurenine.UniRule annotation1 Publication
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. Kynurenine 3-monooxygenase (KMO), Kynurenine 3-monooxygenase (KMO), Kynurenine 3-monooxygenase (KMO), Kynurenine 3-monooxygenase (KMO)
  2. Kynureninase (KYNU), Kynureninase (KYNU), Kynureninase (KYNU)
  3. 3-hydroxyanthranilate 3,4-dioxygenase (HAAO)
This subpathway is part of the pathway NAD(+) biosynthesis, which is itself part of Cofactor biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes quinolinate from L-kynurenine, the pathway NAD(+) biosynthesis and in Cofactor biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei43DioxygenUniRule annotation1
Metal bindingi47Iron; catalyticUniRule annotationCombined sources1 Publication1
Metal bindingi53Iron; catalyticUniRule annotationCombined sources1 Publication1
Binding sitei53SubstrateUniRule annotation1
Metal bindingi91Iron; catalyticUniRule annotationCombined sources1 Publication1
Binding sitei95SubstrateUniRule annotation1
Binding sitei105SubstrateUniRule annotation1

GO - Molecular functioni

  • 3-hydroxyanthranilate 3,4-dioxygenase activity Source: UniProtKB
  • electron transfer activity Source: UniProtKB
  • ferrous iron binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDioxygenase, Oxidoreductase
Biological processPyridine nucleotide biosynthesis
LigandIron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS08749-MONOMER
ReactomeiR-HSA-71240 Tryptophan catabolism
UniPathwayi
UPA00253;UER00330

Names & Taxonomyi

Protein namesi
Recommended name:
3-hydroxyanthranilate 3,4-dioxygenaseUniRule annotation (EC:1.13.11.6UniRule annotation1 Publication)
Alternative name(s):
3-hydroxyanthranilate oxygenaseUniRule annotation
Short name:
3-HAOUniRule annotation
Short name:
h3HAO1 Publication
3-hydroxyanthranilic acid dioxygenaseUniRule annotation
Short name:
HADUniRule annotation
Gene namesi
Name:HAAOUniRule annotationImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000162882.14
HGNCiHGNC:4796 HAAO
MIMi604521 gene
neXtProtiNX_P46952

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Vertebral, cardiac, renal, and limb defects syndrome 1 (VCRL1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects.
See also OMIM:617660
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080252162 – 286Missing in VCRL1; strongly reduced 3-hydroxyanthranilate 3,4-dioxygenase activity in vitro. 1 PublicationAdd BLAST125
Natural variantiVAR_080253186 – 286Missing in VCRL1; strongly reduced 3-hydroxyanthranilate 3,4-dioxygenase activity in vitro. 1 PublicationAdd BLAST101

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi23498
MalaCardsiHAAO
MIMi617660 phenotype
OpenTargetsiENSG00000162882
PharmGKBiPA29171

Chemistry databases

ChEMBLiCHEMBL3108657

Polymorphism and mutation databases

BioMutaiHAAO
DMDMi308153402

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000643721 – 2863-hydroxyanthranilate 3,4-dioxygenaseAdd BLAST286

Proteomic databases

EPDiP46952
MaxQBiP46952
PaxDbiP46952
PeptideAtlasiP46952
PRIDEiP46952
ProteomicsDBi55777
55778 [P46952-2]

PTM databases

iPTMnetiP46952
PhosphoSitePlusiP46952

Expressioni

Gene expression databases

BgeeiENSG00000162882 Expressed in 129 organ(s), highest expression level in right lobe of liver
CleanExiHS_HAAO
ExpressionAtlasiP46952 baseline and differential
GenevisibleiP46952 HS

Organism-specific databases

HPAiHPA036394
HPA042024

Interactioni

Subunit structurei

Monomer.UniRule annotation2 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi117047, 6 interactors
IntActiP46952, 5 interactors
MINTiP46952
STRINGi9606.ENSP00000294973

Chemistry databases

BindingDBiP46952

Structurei

Secondary structure

1286
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP46952
SMRiP46952
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP46952

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 160Domain A (catalytic)UniRule annotationAdd BLAST160
Regioni161 – 177LinkerUniRule annotationAdd BLAST17
Regioni178 – 286Domain BUniRule annotationAdd BLAST109

Sequence similaritiesi

Belongs to the 3-HAO family.UniRule annotation

Phylogenomic databases

eggNOGiKOG3995 Eukaryota
ENOG4111GH8 LUCA
GeneTreeiENSGT00390000013008
HOGENOMiHOG000218448
HOVERGENiHBG000018
InParanoidiP46952
KOiK00452
OMAiNIRKDYH
OrthoDBiEOG091G0IJ1
PhylomeDBiP46952
TreeFamiTF300246

Family and domain databases

Gene3Di2.60.120.10, 1 hit
HAMAPiMF_00825 3_HAO, 1 hit
InterProiView protein in InterPro
IPR010329 3hydroanth_dOase
IPR016700 3hydroanth_dOase_met
IPR014710 RmlC-like_jellyroll
IPR011051 RmlC_Cupin_sf
PANTHERiPTHR15497 PTHR15497, 1 hit
PfamiView protein in Pfam
PF06052 3-HAO, 1 hit
PIRSFiPIRSF017681 3hydroanth_dOase_animal, 1 hit
SUPFAMiSSF51182 SSF51182, 2 hits
TIGRFAMsiTIGR03037 anthran_nbaC, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P46952-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MERRLGVRAW VKENRGSFQP PVCNKLMHQE QLKVMFIGGP NTRKDYHIEE
60 70 80 90 100
GEEVFYQLEG DMVLRVLEQG KHRDVVIRQG EIFLLPARVP HSPQRFANTV
110 120 130 140 150
GLVVERRRLE TELDGLRYYV GDTMDVLFEK WFYCKDLGTQ LAPIIQEFFS
160 170 180 190 200
SEQYRTGKPI PDQLLKEPPF PLSTRSIMEP MSLDAWLDSH HRELQAGTPL
210 220 230 240 250
SLFGDTYETQ VIAYGQGSSE GLRQNVDVWL WQLEGSSVVT MGGRRLSLAP
260 270 280
DDSLLVLAGT SYAWERTQGS VALSVTQDPA CKKPLG
Length:286
Mass (Da):32,556
Last modified:October 5, 2010 - v2
Checksum:i4DA6AC20FC6EC885
GO
Isoform 2 (identifier: P46952-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     148-286: Missing.

Show »
Length:147
Mass (Da):17,275
Checksum:i3ABF821D6C31CE9E
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9IY88C9IY88_HUMAN
3-hydroxyanthranilate 3,4-dioxygena...
HAAO
176Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02150737I → V3 PublicationsCorresponds to variant dbSNP:rs3816183Ensembl.1
Natural variantiVAR_03047042T → S. Corresponds to variant dbSNP:rs3816182Ensembl.1
Natural variantiVAR_080252162 – 286Missing in VCRL1; strongly reduced 3-hydroxyanthranilate 3,4-dioxygenase activity in vitro. 1 PublicationAdd BLAST125
Natural variantiVAR_080253186 – 286Missing in VCRL1; strongly reduced 3-hydroxyanthranilate 3,4-dioxygenase activity in vitro. 1 PublicationAdd BLAST101

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_036239148 – 286Missing in isoform 2. 2 PublicationsAdd BLAST139

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z29481 mRNA Translation: CAA82618.1
CR457063 mRNA Translation: CAG33344.1
CR624693 mRNA No translation available.
AK295693 mRNA Translation: BAG58544.1
AC098824 Genomic DNA Translation: AAY14701.1
CH471053 Genomic DNA Translation: EAX00309.1
BC029510 mRNA Translation: AAH29510.1
CCDSiCCDS33187.1 [P46952-1]
PIRiA54070
RefSeqiNP_036337.2, NM_012205.2 [P46952-1]
UniGeneiHs.368805

Genome annotation databases

EnsembliENST00000294973; ENSP00000294973; ENSG00000162882 [P46952-1]
GeneIDi23498
KEGGihsa:23498
UCSCiuc002rst.5 human [P46952-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z29481 mRNA Translation: CAA82618.1
CR457063 mRNA Translation: CAG33344.1
CR624693 mRNA No translation available.
AK295693 mRNA Translation: BAG58544.1
AC098824 Genomic DNA Translation: AAY14701.1
CH471053 Genomic DNA Translation: EAX00309.1
BC029510 mRNA Translation: AAH29510.1
CCDSiCCDS33187.1 [P46952-1]
PIRiA54070
RefSeqiNP_036337.2, NM_012205.2 [P46952-1]
UniGeneiHs.368805

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2QNKX-ray1.60A2-286[»]
5TK5X-ray1.88A1-286[»]
5TKQX-ray1.75A1-286[»]
ProteinModelPortaliP46952
SMRiP46952
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117047, 6 interactors
IntActiP46952, 5 interactors
MINTiP46952
STRINGi9606.ENSP00000294973

Chemistry databases

BindingDBiP46952
ChEMBLiCHEMBL3108657

PTM databases

iPTMnetiP46952
PhosphoSitePlusiP46952

Polymorphism and mutation databases

BioMutaiHAAO
DMDMi308153402

Proteomic databases

EPDiP46952
MaxQBiP46952
PaxDbiP46952
PeptideAtlasiP46952
PRIDEiP46952
ProteomicsDBi55777
55778 [P46952-2]

Protocols and materials databases

DNASUi23498
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000294973; ENSP00000294973; ENSG00000162882 [P46952-1]
GeneIDi23498
KEGGihsa:23498
UCSCiuc002rst.5 human [P46952-1]

Organism-specific databases

CTDi23498
DisGeNETi23498
EuPathDBiHostDB:ENSG00000162882.14
GeneCardsiHAAO
HGNCiHGNC:4796 HAAO
HPAiHPA036394
HPA042024
MalaCardsiHAAO
MIMi604521 gene
617660 phenotype
neXtProtiNX_P46952
OpenTargetsiENSG00000162882
PharmGKBiPA29171
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3995 Eukaryota
ENOG4111GH8 LUCA
GeneTreeiENSGT00390000013008
HOGENOMiHOG000218448
HOVERGENiHBG000018
InParanoidiP46952
KOiK00452
OMAiNIRKDYH
OrthoDBiEOG091G0IJ1
PhylomeDBiP46952
TreeFamiTF300246

Enzyme and pathway databases

UniPathwayi
UPA00253;UER00330

BioCyciMetaCyc:HS08749-MONOMER
ReactomeiR-HSA-71240 Tryptophan catabolism

Miscellaneous databases

ChiTaRSiHAAO human
EvolutionaryTraceiP46952
GenomeRNAii23498
PROiPR:P46952
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162882 Expressed in 129 organ(s), highest expression level in right lobe of liver
CleanExiHS_HAAO
ExpressionAtlasiP46952 baseline and differential
GenevisibleiP46952 HS

Family and domain databases

Gene3Di2.60.120.10, 1 hit
HAMAPiMF_00825 3_HAO, 1 hit
InterProiView protein in InterPro
IPR010329 3hydroanth_dOase
IPR016700 3hydroanth_dOase_met
IPR014710 RmlC-like_jellyroll
IPR011051 RmlC_Cupin_sf
PANTHERiPTHR15497 PTHR15497, 1 hit
PfamiView protein in Pfam
PF06052 3-HAO, 1 hit
PIRSFiPIRSF017681 3hydroanth_dOase_animal, 1 hit
SUPFAMiSSF51182 SSF51182, 2 hits
TIGRFAMsiTIGR03037 anthran_nbaC, 1 hit
ProtoNetiSearch...

Entry informationi

Entry namei3HAO_HUMAN
AccessioniPrimary (citable) accession number: P46952
Secondary accession number(s): A6NE56
, B4DIN2, Q53QZ7, Q8N6N9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: October 5, 2010
Last modified: November 7, 2018
This is version 166 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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