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KYNU Gene

protein-coding   GIFtS: 68
GCID: GC02P143657

Kynureninase

(Previous name: kynureninase (L-kynurenine hydrolase))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
kynureninase1 2
Kynureninase (L-Kynurenine Hydrolase)1 2
L-Kynurenine Hydrolase1 3
EC 3.7.1.33 8

External Ids:    HGNC: 64691   Entrez Gene: 89422   Ensembl: ENSG000001159197   OMIM: 6051975   UniProtKB: Q167193   

Export aliases for KYNU gene to outside databases

Previous GC identifers: GC02P141324 GC02P141952 GC02P143845 GC02P143468 GC02P143351 GC02P135626


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include kynureninase activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: KYNU_HUMAN, Q16719
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

Gene Wiki entry for KYNU (Kynureninase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the KYNU gene promoter:
         COUP-TF1   AP-1   GATA-3   COUP   LCR-F1   HNF-4alpha1   GATA-1   GATA-2   SRY   COUP-TF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKYNU promoter sequence
   Search Chromatin IP Primers for KYNU

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KYNU


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q22.2   Ensembl cytogenetic band:  2q22.2   HGNC cytogenetic band: 2q22.2

KYNU Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KYNU gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P143657:  view genomic region     (about GC identifiers)

Start:
143,635,067 bp from pter      End:
143,799,890 bp from pter
Size:
164,824 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KYNU_HUMAN, Q16719 (See protein sequence)
Recommended Name: Kynureninase  
Size: 465 amino acids; 52352 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer
Mass spectrometry: Mass=52400; Method=MALDI; Range=1-465; Note=The reported mass is given to only three
significant figures; Source=PubMed:11985583;
Caution: It has been reported that this enzyme possesses no measurable activity against L-kynurenine and is
subject to inhibition by both L-kynurenine and D-kynurenine at pH 7.9 (PubMed:11985583)
2 PDB 3D structures from and Proteopedia for KYNU:
2HZP (3D)        3E9K (3D)    
Secondary accessions: B2RCZ5 D3DP79 Q6I9T2 Q9BVW3
Alternative splicing: 2 isoforms:  Q16719-1   Q16719-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KYNU: NX_Q16719

Explore proteomics data for KYNU at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys96
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for KYNU (Q16719) (see all 7)
     APVPLYN  LTVNLHL  RISNPPI  GNSLGLQP 


    See KYNU Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001028170.1  NP_001186170.1  NP_003928.1  

    ENSEMBL proteins: 
     ENSP00000264170   ENSP00000364928   ENSP00000386731   ENSP00000387296   ENSP00000401190  
    Reactome Protein details: Q16719

    KYNU Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR015424 PyrdxlP-dep_Trfase
     IPR000192 Aminotrans_V/Cys_dSase
     IPR010111 Kynureninase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1
     IPR015422 PyrdxlP-dep_Trfase_major_sub2

    Graphical View of Domain Structure for InterPro Entry Q16719

    ProtoNet protein and cluster: Q16719

    UniProtKB/Swiss-Prot: KYNU_HUMAN, Q16719
    Similarity: Belongs to the kynureninase family


    KYNU for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KYNU_HUMAN, Q16719
    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
    Catalytic activity: L-kynurenine + H(2)O = anthranilate + L-alanine
    Catalytic activity: L-3-hydroxykynurenine + H(2)O = 3-hydroxyanthranilate + L-alanine
    Enzyme regulation: Inhibited by o-methoxybenzoylalanine (OMBA)
    Biophysicochemical properties: Kinetic parameters: KM=493 uM for L-kynurenine (at pH 7.0); KM=28.3 uM for
    DL-3-hydroxykynurenine (at pH 7.0); KM=3.0 uM for DL-3-hydroxykynurenine (at pH 7.9); pH dependence: Optimum pH
    is 8.25 with DL-3-hydroxykynurenine as substrate;
    Induction: Increased levels in several cerebral and systemic inflammatory conditions

         Enzyme Number (IUBMB): EC 3.7.1.31 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030170pyridoxal phosphate binding IEA--
    GO:0030429kynureninase activity TAS--
    GO:0042803protein homodimerization activity IDA11985583
         
    KYNU for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KYNU:
     Increased TP53 protein express 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KYNU
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KYNU
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    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate KYNU:
    hsa-miR-203 hsa-miR-28-3p hsa-miR-576-3p
    SwitchGear 3'UTR luciferase reporter plasmidKYNU 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat KYNU

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KYNU_HUMAN, Q16719: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    mitochondrion5
    nucleus4
    plasma membrane2
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA6468727
    GO:0005829cytosol TAS--

    KYNU for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KYNU About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan catabolism0.00
    Tryptophan metabolism0.46
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    tryptophan degradation via kynurenine0.00
    4tryptophan utilization II
    tryptophan utilization II0.71
    NAD de novo biosynthesis0.00
    tryptophan utilization I0.71
    tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde0.00
    tryptophan degradation0.00
    5Nicotinate and nicotinamide metabolism
    NAD metabolism0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for KYNU
        NAD metabolism

    Selected BioSystems Pathways for KYNU (see all 8)
        NAD de novo biosynthesis
    Selenium Pathway
    tryptophan degradation via kynurenine
    tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde
    Tryptophan metabolism


    1 Reactome Pathway for KYNU
        Tryptophan catabolism


    2 Kegg Pathways  (Kegg details for KYNU):
        Tryptophan metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: KYNU_HUMAN, Q16719
    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


    KYNU for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KYNU: 

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for KYNU

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for KYNU (Q167193 ENSP000002641704) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    CDC7O003113I2D: score=4 
    MARCH6O603373I2D: score=3 
    NEDD4LQ96PU53I2D: score=3 
    PIN1Q135263I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006569tryptophan catabolic process TAS--
    GO:0008152metabolic process ----
    GO:0009435NAD biosynthetic process IEA--
    GO:0019441tryptophan catabolic process to kynurenine IEA--
    GO:0019442tryptophan catabolic process to acetyl-CoA IEA--

    KYNU for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KYNU

    Selected HMDB Compounds for KYNU (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Aminobenzoic acid1-Amino-2-carboxybenzene (see all 30)118-92-3--
    3-Hydroxyanthranilic acid2-Amino-3-hydroxybenzoate (see all 17)548-93-6--
    Formylanthranilic acid2-(Formylamino)-benzoic acid (see all 8)3342-77-6--
    Hydroxykynurenine3-(3-hydroxyanthraniloyl)-Alanine (see all 7)484-78-6--
    L-3-Hydroxykynurenine3-Hydroxy-L-kynurenine (see all 4)606-14-4--
    L-Alanine(2S)-2-Aminopropanoate (see all 35)56-41-7--
    L-Kynurenine(S)-alpha,2-diamino-3-hydroxy-gamma-oxo-Benzenebutanoate (see all 15)343-65-7--
    N'-Formylkynurenine3-(N-formylanthraniloyl)-Alanine (see all 9)1022-31-7--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    3 DrugBank Compounds for KYNU    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor17300176 12204580 11985583 14756555
    L-Alanine(2S)-2-Aminopropanoic acid (see all 15)56-41-7target--17300176 17334708
    3-Hydroxyhippuric acid-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for KYNU gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kynurenine 94.8 50 9628740 (4), 9291104 (3), 15023073 (2), 14505498 (2) (see all 28)
    3-hydroxyanthranilic acid 91.7 10 9291104 (3), 15961579 (1), 19143568 (1), 15530458 (1) (see all 6)
    3-hydroxykynurenine 90.5 9 19143568 (2), 8706755 (1), 9291104 (1), 14505498 (1) (see all 6)
    quinolinic acid 84.8 7 9291104 (3), 9871640 (1), 11795205 (1), 10966936 (1)
    indoleamine 77.6 6 15206722 (1), 15541637 (1), 15961579 (1), 16365156 (1) (see all 6)
    anthranilate 76.7 5 9477966 (2), 14756555 (1), 10482441 (1), 10655781 (1)
    xanthurenic acid 74.8 1 17334708 (1)
    kynurenic acid 73.4 3 9174065 (1), 8293279 (1)
    pyridoxal 5-phosphate 68.7 15 14756555 (4), 9264543 (3), 17300176 (2), 19143568 (1)
    l-tryptophan 66.9 3 9291104 (2), 8417138 (1)



    KYNU for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KYNU gene (3 alternative transcripts): 
    NM_001032998.1  NM_001199241.1  NM_003937.2  

    Unigene Cluster for KYNU:

    Kynureninase
    Hs.470126  [show with all ESTs]
    Unigene Representative Sequence: NM_001199241
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264170(uc010fnm.3 uc002tvl.3) ENST00000375773(uc002tvk.3)
    ENST00000409512 ENST00000410015 ENST00000424385 ENST00000460143
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidKYNU 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat KYNU

    Additional mRNA sequence: 

    AK223426.1 AK290900.1 AK292095.1 AK315343.1 BC000879.1 CR457423.1 D55639.1 U57721.1 

    14 DOTS entries:

    DT.314198  DT.95245947  DT.100796487  DT.100796489  DT.100741157  DT.95245948  DT.95245967  DT.86845405 
    DT.99938229  DT.100796490  DT.99988158  DT.120997401  DT.405960  DT.91684271 

    Selected AceView cDNA sequences (see all 201):

    AL548658 AI221609 CR592463 AA381427 BM760211 AA361162 CB529564 CR615056 
    CA308805 CA416906 R11005 BQ012166 AI050819 CA438414 BQ772693 AI125499 
    AI732962 AA368992 AI635989 AV717451 BU674788 AA701259 BM770134 CB529658 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KYNU expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAACTAACAA
    KYNU Expression
    About this image


    KYNU expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocyte-like cells
     
     Endoderm (Gastrulation Derivatives)
             Definitive endoderm-like cells
     
     Blood (Hematopoietic System)
             pre Conventional Dendritic Cells Peripheral Blood
    KYNU Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KYNU Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.470126

    UniProtKB/Swiss-Prot: KYNU_HUMAN, Q16719
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including KYNU: 
              Amino Acid Metabolism I in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KYNU

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for KYNU gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kynu1 , 5 kynureninase (L-kynurenine hydrolase)1, 5 84.27(n)1
    83.77(a)1
      2 (25.64 cM)5
    707891  NM_027552.11  NP_081828.11 
     435553295 
    chicken
    (Gallus gallus)
    Aves KYNU1 kynureninase 70.9(n)
    71.61(a)
      424302  XM_004943012.1  XP_004943069.1 
    lizard
    (Anolis carolinensis)
    Reptilia KYNU6
    kynureninase
    69(a)
    1 ↔ 1
    1(101210470-101345189)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX732155.12   -- 72.42(n)    BX732155.1 
    zebrafish
    (Danio rerio)
    Actinopterygii KYNU (1 of 2)6
    KYNU (2 of 2)6
    kynureninase
    59(a)
    48(a)
    many → 1
    many → 1
    6(473086-475825) ENSDARG00000028345
    6(466291-468082) ENSDARG00000096343
    worm
    (Caenorhabditis elegans)
    Secernentea C15H9.71 , 3 kynureninase3
    C15H9.71
    50(a)3
    55(n)1
    50.45(a)1
      X(6142273-6144604)3
    1808831  NM_076622.41  NP_509023.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BNA5(YLR231C)4
    BNA51
    Kynureninase, required for the de novo biosynthesis more4
    BNA51
    52.28(n)1
    47.88(a)1
      12(607119-605758)4
    8509331, 4  NP_013332.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KYNU gene

    KYNU for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for KYNU
    PGOHUM00000236956 PGOHUM00000237270 PGOHUM00000237271


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KYNU (see all 3187)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3726537181,2
    C--135631866(+) AAATT-/TCTTTTT 3 -- int10--------
    rs1510793711,2
    --135631867(+) AATTT-/CTTTTT 3 -- int10--------
    rs1996972991,2
    C--135631867(+) AATTTC/TTTTTT 3 -- int10--------
    rs768849371,2
    C--135670518(+) TACATA/CCATGT 3 -- int10--------
    rs1134023971,2
    C,F--135683850(+) CAGCTG/TGCTGA 3 -- int12Minor allele frequency- T:0.08WA 120
    rs729886341,2
    C,F--135683860(+) AGTTTA/TGGTTG 3 -- int13Minor allele frequency- T:0.06WA EA 240
    rs739637961,2
    C,F--135683966(+) ACTCTA/GTGGGC 3 -- int15Minor allele frequency- G:0.14WA CSA EA 244
    rs745593541,2
    C,F--135684410(+) GGGCCG/AGAGGG 3 -- int12Minor allele frequency- A:0.08CSA WA 119
    rs678730221,2
    C--135704798(+) GACAT-/AAAATG 3 -- int11Minor allele frequency- A:0.00NA 2
    rs1829580561,2
    --143132679(+) GCATTA/GATACA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for KYNU (143635067 - 143799890 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for KYNU:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507038CNV Insertion20534489
    nsv515932CNV Loss19592680
    nsv517623CNV Loss19592680
    esv22318CNV Loss19812545
    nsv834395CNV Gain17160897
    nsv875258CNV Gain21882294
    nsv875259CNV Gain21882294

    Human Gene Mutation Database (HGMD): KYNU
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KYNU
    DNA2.0 Custom Variant and Variant Library Synthesis for KYNU

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605197    OMIM disorders: --

    UniProtKB/Swiss-Prot: KYNU_HUMAN, Q16719
  • Note=Xanthurenic aciduria manifesting as massive urinary excretion of large amounts of kynurenine,
    3-hydroxykynurenine and xanthurenic acid has been observed in an individual carrying a homozygous missense change
    in KYNU (PubMed:17334708). The urinary pattern in the patient suggests kynureninase deficiency and a block in the
    conversion of kynurenine and 3-hydroxykynurenine to anthranilate and 3-hydroxyanthranilate, respectively

  • 18 diseases for KYNU:    
    About MalaCards
    hydroxykynureninuria    encephalopathy due to hydroxykynureninuria    transient cerebral ischemia    pellagra
    ischemia    neurologic diseases    cerebritis    brain injury
    essential hypertension    atopic dermatitis    intrahepatic cholangiocarcinoma    dermatitis
    cholangiocarcinoma    hypertension    psoriasis    multiple myeloma
    myeloma    neuronitis

    1 disease from the University of Copenhagen DISEASES database for KYNU:
    Pellagra

    KYNU for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for KYNU gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hydroxykynureninuria 95.1 3 17334708 (1), 9590041 (1)
    transient cerebral ischemia 56.8 1 8417138 (1)
    cerebral ischemia 19.5 1 8245962 (1)

    Genetic Association Database (GAD): KYNU
    Human Genome Epidemiology (HuGE) Navigator: KYNU (3 documents)

    Export disorders for KYNU gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KYNU gene, integrated from 10 sources (see all 68):
    (articles sorted by number of sources associating them with KYNU)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and expression of a cDNA clone encoding human kynureninase. (PubMed id 8706755)1, 2, 3, 9 Alberati-Giani D.... Cesura A.M. (Eur. J. Biochem. 1996)
    2. Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase. (PubMed id 17334708)1, 2, 7, 9 Christensen M.... Christensen E. (J. Inherit. Metab. Dis. 2007)
    3. Purification and biochemical characterization of some of the properties of recombinant human kynureninase. (PubMed id 11985583)1, 2, 7, 9 Walsh H.A. and Botting N.P. (Eur. J. Biochem. 2002)
    4. Cloning and recombinant expression of rat and human kynureninase. (PubMed id 9180257)1, 2, 3, 9 Toma S.... Benatti L. (FEBS Lett. 1997)
    5. Crystal structure of Homo sapiens kynureninase. (PubMed id 17300176)2, 7, 9 Lima S.... Phillips R.S. (Biochemistry 2007)
    6. [A polymorphism of kynureninase gene in a hypertensive candidate chromosomal region is associated with essential hypertension]. (PubMed id 16080802)1, 4, 9 Zhang Y....Zhu D.L. (Zhonghua Xin Xue Guan Bing Za Zhi 2005)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Three-dimensional structure of kynureninase from Pseudomonas fluorescens. (PubMed id 14756555)7, 9 Momany C....Phillips R.S. (Biochemistry 2004)
    10. Different kynurenine pathway enzymes limit quinolinic acid formation by various human cell types. (PubMed id 9291104)1, 9 Heyes M.P....Saito K. (Biochem. J. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8942 HGNC: 6469 AceView: KYNU Ensembl:ENSG00000115919 euGenes: HUgn8942
    ECgene: KYNU Kegg: 8942 H-InvDB: KYNU

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KYNU Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KYNU gene:
    Search GeneIP for patents involving KYNU

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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