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    KYNU kynureninase [ Homo sapiens (human) ]

    Gene ID: 8942, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KYNUprovided by HGNC
    Official Full Name
    kynureninaseprovided by HGNC
    Primary source
    HGNC:HGNC:6469
    See related
    Ensembl:ENSG00000115919 MIM:605197; AllianceGenome:HGNC:6469
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KYNUU; VCRL2
    Summary
    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]
    Expression
    Broad expression in liver (RPKM 2.5), urinary bladder (RPKM 1.8) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KYNU in Genome Data Viewer
    Location:
    2q22.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (142877664..143055833)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (143325958..143504091)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (143635233..143813402)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16598 Neighboring gene HNF1 motif-containing MPRA enhancer 151 Neighboring gene RRN3 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11989 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:143672145-143673020 Neighboring gene uncharacterized LOC124907894 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:143688223-143689422 Neighboring gene stress induced phosphoprotein 1 pseudogene 1 Neighboring gene SFXN4 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:143763291-143763928 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:143763929-143764566 Neighboring gene MT-CYB pseudogene 11 Neighboring gene MT-ND6 pseudogene 11

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The TZM-bl Reporter Cell Line Expresses Kynureninase That Can Neutralize 2F5-like Antibodies in the HIV-1 Neutralization Assay. Morozov V, et al. Int J Mol Sci, 2022 Jan 7. PMID 35054825, Free PMC Article
    2. [A polymorphism of kynureninase gene in a hypertensive candidate chromosomal region is associated with essential hypertension]. Zhang Y, et al. Zhonghua Xin Xue Guan Bing Za Zhi, 2005 Jul. PMID 16080802
    3. A rare variant at the KYNU gene is associated with kynureninase activity and essential hypertension in the Han Chinese population. Zhang Y, et al. Circ Cardiovasc Genet, 2011 Dec. PMID 22012986
    4. The tryptophan metabolism enzyme L-kynureninase is a novel inflammatory factor in psoriasis and other inflammatory diseases. Harden JL, et al. J Allergy Clin Immunol, 2016 Jun. PMID 26725996, Free PMC Article
    5. A novel role of kynureninase in the growth control of breast cancer cells and its relationships with breast cancer. Liu Y, et al. J Cell Mol Med, 2019 Oct. PMID 31332944, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
      Title: Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
    2. The TZM-bl Reporter Cell Line Expresses Kynureninase That Can Neutralize 2F5-like Antibodies in the HIV-1 Neutralization Assay.
      Title: The TZM-bl Reporter Cell Line Expresses Kynureninase That Can Neutralize 2F5-like Antibodies in the HIV-1 Neutralization Assay.
    3. TDO2 knockdown inhibits colorectal cancer progression via TDO2-KYNU-AhR pathway.
      Title: TDO2 knockdown inhibits colorectal cancer progression via TDO2-KYNU-AhR pathway.
    4. A novel role of kynureninase in the growth control of breast cancer cells and its relationships with breast cancer.
      Title: A novel role of kynureninase in the growth control of breast cancer cells and its relationships with breast cancer.
    5. Our results suggest that tryptophan metabolism might dichotomously modulate immune responses, with KYNU as a switch between immunosuppressive versus inflammatory outcomes.
      Title: The tryptophan metabolism enzyme L-kynureninase is a novel inflammatory factor in psoriasis and other inflammatory diseases.
    6. A rare variant at the KYNU gene is associated with essential hypertension in the Han Chinese population.
      Title: A rare variant at the KYNU gene is associated with kynureninase activity and essential hypertension in the Han Chinese population.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. The Lys412Glu polymorphism of the KYNU gene in a hypertensive candidate chromosomal region is associated with essential hypertension in Han Chinese.
      Title: [A polymorphism of kynureninase gene in a hypertensive candidate chromosomal region is associated with essential hypertension].
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hydroxykynureninuria
    MedGen: C0268474 OMIM: 236800 GeneReviews: Not available
    		Compare labs
    Vertebral, cardiac, renal, and limb defects syndrome 2
    MedGen: C4540014 OMIM: 617661 GeneReviews: Congenital NAD Deficiency Disorder
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of selenium concentrations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of kynureninase (KYNU) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables kynureninase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables kynureninase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables kynureninase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in 'de novo' NAD biosynthetic process from tryptophan IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-kynurenine catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in NAD biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in anthranilate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in anthranilate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in quinolinate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to type II interferon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to vitamin B6 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tryptophan catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tryptophan catabolic process to kynurenine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    kynureninase
    NP_001028170.1
    NP_001186170.1
    NP_003928.1
    XP_016860706.1
    XP_047302206.1
    XP_047302207.1
    XP_047302208.1
    XP_047302209.1
    XP_054200389.1
    XP_054200390.1
    XP_054200391.1
    XP_054200392.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023254.2 RefSeqGene

      Range
      5002..183171
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001032998.2 → NP_001028170.1  kynureninase isoform b

      See identical proteins and their annotated locations for NP_001028170.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR and coding region compared to variant 3. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC013444, BC000879
      Consensus CDS
      CCDS33299.1
      UniProtKB/Swiss-Prot
      Q16719
      Related
      ENSP00000364928.2, ENST00000375773.6
      Conserved Domains (1) summary
      cl28159
      Location:30 → 301
      Aminotran_5; Aminotransferase class-V

    2. NM_001199241.2 → NP_001186170.1  kynureninase isoform a

      See identical proteins and their annotated locations for NP_001186170.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript variant. Variants 1 and 3 encode isoform a.
      Source sequence(s)
      AC013437, AK315343, AW290980
      Consensus CDS
      CCDS2183.1
      UniProtKB/Swiss-Prot
      B2RCZ5, D3DP79, Q16719, Q6I9T2, Q9BVW3
      UniProtKB/TrEMBL
      A8K4D5
      Related
      ENSP00000386731.1, ENST00000409512.5
      Conserved Domains (1) summary
      TIGR01814
      Location:30 → 459
      kynureninase; kynureninase

    3. NM_003937.3 → NP_003928.1  kynureninase isoform a

      See identical proteins and their annotated locations for NP_003928.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5'UTR compared to variant 3.
      Source sequence(s)
      AC013437, AL548658, AW296221, U57721
      Consensus CDS
      CCDS2183.1
      UniProtKB/Swiss-Prot
      B2RCZ5, D3DP79, Q16719, Q6I9T2, Q9BVW3
      UniProtKB/TrEMBL
      A8K4D5
      Related
      ENSP00000264170.4, ENST00000264170.9
      Conserved Domains (1) summary
      TIGR01814
      Location:30 → 459
      kynureninase; kynureninase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      142877664..143055833
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446250.1 → XP_047302206.1  kynureninase isoform X1

    2. XM_047446252.1 → XP_047302208.1  kynureninase isoform X2

    3. XM_047446251.1 → XP_047302207.1  kynureninase isoform X2

    4. XM_017005217.2 → XP_016860706.1  kynureninase isoform X2

      UniProtKB/Swiss-Prot
      Q16719
      Conserved Domains (1) summary
      cl28159
      Location:30 → 301
      Aminotran_5; Aminotransferase class-V

    5. XM_047446253.1 → XP_047302209.1  kynureninase isoform X3

      UniProtKB/TrEMBL
      Q53SX6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      143325958..143504091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344414.1 → XP_054200389.1  kynureninase isoform X1

    2. XM_054344417.1 → XP_054200392.1  kynureninase isoform X2

    3. XM_054344416.1 → XP_054200391.1  kynureninase isoform X2

    4. XM_054344415.1 → XP_054200390.1  kynureninase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16719.1 GenPept UniProtKB/Swiss-Prot:Q16719

    Gene LinkOut

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