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Aliases for KYNU Gene

Aliases for KYNU Gene

  • Kynureninase 2 3 5
  • L-Kynurenine Hydrolase 2 3 4
  • EC 3.7.1.3 4 63
  • Kynureninase (L-Kynurenine Hydrolase) 2
  • KYNUU 3

External Ids for KYNU Gene

Previous GeneCards Identifiers for KYNU Gene

  • GC02P141324
  • GC02P141952
  • GC02P143657
  • GC02P143845
  • GC02P143468
  • GC02P143351
  • GC02P135626
  • GC02P142877

Summaries for KYNU Gene

Entrez Gene Summary for KYNU Gene

  • Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

GeneCards Summary for KYNU Gene

KYNU (Kynureninase) is a Protein Coding gene. Diseases associated with KYNU include hydroxykynureninuria and encephalopathy due to hydroxykynureninuria. Among its related pathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. GO annotations related to this gene include protein homodimerization activity and kynureninase activity.

UniProtKB/Swiss-Prot for KYNU Gene

  • Catalyzes the cleavage of L-kynurenine (L-Kyn) and L-3-hydroxykynurenine (L-3OHKyn) into anthranilic acid (AA) and 3-hydroxyanthranilic acid (3-OHAA), respectively. Has a preference for the L-3-hydroxy form. Also has cysteine-conjugate-beta-lyase activity.

Gene Wiki entry for KYNU Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KYNU Gene

Genomics for KYNU Gene

Regulatory Elements for KYNU Gene

Genomic Location for KYNU Gene

Chromosome:
2
Start:
142,748,928 bp from pter
End:
143,055,832 bp from pter
Size:
306,905 bases
Orientation:
Plus strand

Genomic View for KYNU Gene

Genes around KYNU on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KYNU Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KYNU Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KYNU Gene

Proteins for KYNU Gene

  • Protein details for KYNU Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16719-KYNU_HUMAN
    Recommended name:
    Kynureninase
    Protein Accession:
    Q16719
    Secondary Accessions:
    • B2RCZ5
    • D3DP79
    • Q6I9T2
    • Q9BVW3

    Protein attributes for KYNU Gene

    Size:
    465 amino acids
    Molecular mass:
    52352 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for KYNU Gene

    Alternative splice isoforms for KYNU Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KYNU Gene

Proteomics data for KYNU Gene at MOPED

Selected DME Specific Peptides for KYNU Gene

Post-translational modifications for KYNU Gene

  • Ubiquitination at Lys 96
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for KYNU Gene

Suggested Antigen Peptide Sequences for KYNU Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16719

UniProtKB/Swiss-Prot:

KYNU_HUMAN :
  • Belongs to the kynureninase family.
Family:
  • Belongs to the kynureninase family.
genes like me logo Genes that share domains with KYNU: view

No data available for Gene Families for KYNU Gene

Function for KYNU Gene

Molecular function for KYNU Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=493 uM for L-kynurenine (at pH 7.0) {ECO:0000269 PubMed:11985583, ECO:0000269 PubMed:17300176, ECO:0000269 PubMed:8706755, ECO:0000269 PubMed:9180257}; KM=28.3 uM for DL-3-hydroxykynurenine (at pH 7.0) {ECO:0000269 PubMed:11985583, ECO:0000269 PubMed:17300176, ECO:0000269 PubMed:8706755, ECO:0000269 PubMed:9180257}; KM=3.0 uM for DL-3-hydroxykynurenine (at pH 7.9) {ECO:0000269 PubMed:11985583, ECO:0000269 PubMed:17300176, ECO:0000269 PubMed:8706755, ECO:0000269 PubMed:9180257}; pH dependence: Optimum pH is 8.25 with DL-3-hydroxykynurenine as substrate. {ECO:0000269 PubMed:11985583, ECO:0000269 PubMed:17300176, ECO:0000269 PubMed:8706755, ECO:0000269 PubMed:9180257};
UniProtKB/Swiss-Prot CatalyticActivity:
L-kynurenine + H(2)O = anthranilate + L-alanine.
UniProtKB/Swiss-Prot CatalyticActivity:
L-3-hydroxykynurenine + H(2)O = 3-hydroxyanthranilate + L-alanine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by o-methoxybenzoylalanine (OMBA).
UniProtKB/Swiss-Prot Function:
Catalyzes the cleavage of L-kynurenine (L-Kyn) and L-3-hydroxykynurenine (L-3OHKyn) into anthranilic acid (AA) and 3-hydroxyanthranilic acid (3-OHAA), respectively. Has a preference for the L-3-hydroxy form. Also has cysteine-conjugate-beta-lyase activity.
UniProtKB/Swiss-Prot Induction:
Increased levels in several cerebral and systemic inflammatory conditions.

Enzyme Numbers (IUBMB) for KYNU Gene

genes like me logo Genes that share phenotypes with KYNU: view

Human Phenotype Ontology for KYNU Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for KYNU Gene

Localization for KYNU Gene

Subcellular locations from UniProtKB/Swiss-Prot for KYNU Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KYNU Gene COMPARTMENTS Subcellular localization image for KYNU gene
Compartment Confidence
cytosol 5
mitochondrion 5
nucleus 5
plasma membrane 2

Gene Ontology (GO) - Cellular Components for KYNU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA --
genes like me logo Genes that share ontologies with KYNU: view

Pathways & Interactions for KYNU Gene

genes like me logo Genes that share pathways with KYNU: view

UniProtKB/Swiss-Prot Q16719-KYNU_HUMAN

  • Pathway: Amino-acid degradation; L-kynurenine degradation; L-alanine and anthranilate from L-kynurenine: step 1/1.
  • Pathway: Cofactor biosynthesis; NAD(+) biosynthesis; quinolinate from L-kynurenine: step 2/3.

Interacting Proteins for KYNU Gene

Gene Ontology (GO) - Biological Process for KYNU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009435 NAD biosynthetic process IEA --
GO:0019442 tryptophan catabolic process to acetyl-CoA IEA --
GO:0019805 quinolinate biosynthetic process IDA 9291104
GO:0034341 response to interferon-gamma IDA 9291104
GO:0034516 response to vitamin B6 IMP 1939450
genes like me logo Genes that share ontologies with KYNU: view

No data available for SIGNOR curated interactions for KYNU Gene

Drugs & Compounds for KYNU Gene

(15) Drugs for KYNU Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
3-hydroxyanthranilic acid Experimental Pharma 0
3-Hydroxyhippuric acid Experimental Pharma Target 0
2-Aminobenzoic acid Experimental Pharma 0
Pyridoxal Phosphate Nutra Target, cofactor 14

(15) Additional Compounds for KYNU Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Formylanthranilic acid
  • 2-(Formylamino)-benzoate
  • 2-(Formylamino)-benzoic acid
  • 2-(Formylamino)benzoate
  • 2-(Formylamino)benzoic acid
  • 2-Formamidobenzoate
3342-77-6
Hydroxykynurenine
  • 3-(3-Hydroxyanthraniloyl)-Alanine
  • 3-Hydroxy-DL-kynurenine
  • 3-Hydroxy-Kynurenine
  • 3-Hydroxykynurenine
  • DL-3-Hydroxykynurenine
484-78-6
L-3-Hydroxykynurenine
  • 3-(2-Amino-3-hydroxybenzoyl)-L-alanine
  • 3-(3-Hydroxyanthraniloyl)-L-alanine
  • 3-Hydroxy-L-kynurenine
  • L-3-HK
606-14-4
L-Formylkynurenine
L-Kynurenine
  • (alphaS)-alpha,2-diamino-3-hydroxy-gamma-oxo-Benzenebutanoate
  • (alphaS)-alpha,2-diamino-3-hydroxy-gamma-oxo-Benzenebutanoic acid
  • (S)-alpha,2-diamino-3-hydroxy-gamma-oxo-Benzenebutanoate
  • (S)-alpha,2-diamino-3-hydroxy-gamma-oxo-Benzenebutanoic acid
  • 3-(3-Hydroxyanthraniloyl)-L-alanine
343-65-7
genes like me logo Genes that share compounds with KYNU: view

Transcripts for KYNU Gene

Unigene Clusters for KYNU Gene

Kynureninase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KYNU Gene

No ASD Table

Relevant External Links for KYNU Gene

GeneLoc Exon Structure for
KYNU
ECgene alternative splicing isoforms for
KYNU

Expression for KYNU Gene

mRNA expression in normal human tissues for KYNU Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KYNU Gene

This gene is overexpressed in Liver (x11.1) and Whole Blood (x7.8).

Protein differential expression in normal tissues from HIPED for KYNU Gene

This gene is overexpressed in Tonsil (13.4), Stomach (13.2), and Monocytes (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KYNU Gene



SOURCE GeneReport for Unigene cluster for KYNU Gene Hs.470126

mRNA Expression by UniProt/SwissProt for KYNU Gene

Q16719-KYNU_HUMAN
Tissue specificity: Expressed in all tissues tested (heart, brain placenta, lung, liver, skeletal muscle, kidney and pancreas). Highest levels found in placenta, liver and lung. Expressed in all brain regions.
genes like me logo Genes that share expression patterns with KYNU: view

Protein tissue co-expression partners for KYNU Gene

Primer Products

In Situ Assay Products

Orthologs for KYNU Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KYNU Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KYNU 36
  • 100 (a)
OneToOne
KYNU 35
  • 99.71 (n)
  • 99.57 (a)
cow
(Bos Taurus)
Mammalia KYNU 35
  • 88.77 (n)
  • 86.61 (a)
KYNU 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KYNU 36
  • 88 (a)
OneToOne
KYNU 35
  • 89.51 (n)
  • 87.72 (a)
mouse
(Mus musculus)
Mammalia Kynu 16
Kynu 36
  • 83 (a)
OneToOne
Kynu 35
  • 84.27 (n)
  • 83.77 (a)
oppossum
(Monodelphis domestica)
Mammalia KYNU 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KYNU 36
  • 44 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kynu 35
  • 84.63 (n)
  • 85.28 (a)
chicken
(Gallus gallus)
Aves KYNU 35
  • 70.9 (n)
  • 71.61 (a)
KYNU 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KYNU 36
  • 69 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8241 35
zebrafish
(Danio rerio)
Actinopterygii KYNU (1 of 2) 36
  • 59 (a)
OneToMany
KYNU (2 of 2) 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C15H9.7 37
  • 50 (a)
flu-2 36
  • 47 (a)
OneToOne
C15H9.7 35
  • 55 (n)
  • 50.45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL098W 35
  • 46.94 (n)
  • 42.24 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BNA5 35
  • 52.28 (n)
  • 47.88 (a)
BNA5 36
  • 43 (a)
OneToOne
BNA5 38
bread mold
(Neurospora crassa)
Ascomycetes NCU00463 35
  • 52.39 (n)
  • 47.53 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13357 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToMany
-- 36
  • 37 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
-- 36
  • 44 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
CSA.3700 36
  • 32 (a)
OneToMany
Species with no ortholog for KYNU:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for KYNU Gene

ENSEMBL:
Gene Tree for KYNU (if available)
TreeFam:
Gene Tree for KYNU (if available)

Paralogs for KYNU Gene

Pseudogenes.org Pseudogenes for KYNU Gene

genes like me logo Genes that share paralogs with KYNU: view

No data available for Paralogs for KYNU Gene

Variants for KYNU Gene

Sequence variations from dbSNP and Humsavar for KYNU Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs9013 - 143,040,620(-) ATCTT(C/T)GTTTG nc-transcript-variant, reference, missense
rs2304705 - 142,957,696(+) TATGC(A/C/G)GATGA nc-transcript-variant, reference, missense
VAR_054401 Hydroxykynureninuria (HYXKY)
rs189527 -- 142,934,527(+) gagca(A/G)aaaag intron-variant
rs164735 -- 142,947,848(+) TGAAA(A/G)GCAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KYNU Gene

Variant ID Type Subtype PubMed ID
nsv875258 CNV Gain 21882294
nsv834395 CNV Gain 17160897
nsv875259 CNV Gain 21882294
esv22318 CNV Loss 19812545
nsv517623 CNV Loss 19592680
nsv515932 CNV Loss 19592680
nsv507038 CNV Insertion 20534489

Variation tolerance for KYNU Gene

Residual Variation Intolerance Score: 28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 31.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KYNU Gene

HapMap Linkage Disequilibrium report
KYNU
Human Gene Mutation Database (HGMD)
KYNU

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KYNU Gene

Disorders for KYNU Gene

MalaCards: The human disease database

(5) MalaCards diseases for KYNU Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hydroxykynureninuria
  • kynureninase deficiency
encephalopathy due to hydroxykynureninuria
  • hydroxykynureninuria
pellagra
  • niacin deficiency
hypertonia
mowat-wilson syndrome
  • hirschsprung disease mental retardation syndrome
- elite association - COSMIC cancer census association via MalaCards
Search KYNU in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KYNU_HUMAN
  • Hydroxykynureninuria (HYXKY) [MIM:236800]: An inborn error of amino acid metabolism characterized by massive urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine and xanthurenic acid. Affected individuals manifest renal tubular dysfunction, metabolic acidosis, psychomotor retardation, non-progressive encephalopathy, and muscular hypertonia. {ECO:0000269 PubMed:17334708}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KYNU

Genetic Association Database (GAD)
KYNU
Human Genome Epidemiology (HuGE) Navigator
KYNU
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KYNU
genes like me logo Genes that share disorders with KYNU: view

No data available for Genatlas for KYNU Gene

Publications for KYNU Gene

  1. Isolation and expression of a cDNA clone encoding human kynureninase. (PMID: 8706755) Alberati-Giani D. … Cesura A.M. (Eur. J. Biochem. 1996) 2 3 4 23 67
  2. Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase. (PMID: 17334708) Christensen M. … Christensen E. (J. Inherit. Metab. Dis. 2007) 3 23 25 26
  3. Crystal structure of Homo sapiens kynureninase. (PMID: 17300176) Lima S. … Phillips R.S. (Biochemistry 2007) 23 25 26
  4. Purification and biochemical characterization of some of the properties of recombinant human kynureninase. (PMID: 11985583) Walsh H.A. … Botting N.P. (Eur. J. Biochem. 2002) 3 23 25
  5. Cloning and recombinant expression of rat and human kynureninase. (PMID: 9180257) Toma S. … Benatti L. (FEBS Lett. 1997) 2 3 23

Products for KYNU Gene

Sources for KYNU Gene

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