ENSG00000115919


Homo sapiens

Features
Gene ID: ENSG00000115919
  
Biological name :KYNU
  
Synonyms : KYNU / kynureninase / Q16719
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q22.2
Gene start: 142877498
Gene end: 143055832
  
Corresponding Affymetrix probe sets: 204385_at (Human Genome U133 Plus 2.0 Array)   210662_at (Human Genome U133 Plus 2.0 Array)   210663_s_at (Human Genome U133 Plus 2.0 Array)   217388_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000386731
Ensembl peptide - ENSP00000387296
Ensembl peptide - ENSP00000484801
Ensembl peptide - ENSP00000482009
Ensembl peptide - ENSP00000481930
Ensembl peptide - ENSP00000401190
Ensembl peptide - ENSP00000264170
Ensembl peptide - ENSP00000364928
NCBI entrez gene - 8942     See in Manteia.
OMIM - 605197
RefSeq - XM_017005217
RefSeq - NM_001032998
RefSeq - NM_001199241
RefSeq - NM_003937
RefSeq - XM_011512102
RefSeq Peptide - NP_003928
RefSeq Peptide - NP_001028170
RefSeq Peptide - NP_001186170
swissprot - A0A087WYM2
swissprot - F8WEP1
swissprot - A0A087X297
swissprot - A0A087WYQ7
swissprot - Q16719
swissprot - B8ZZA3
Ensembl - ENSG00000115919
  
Related genetic diseases (OMIM): 236800 - ?Hydroxykynureninuria, 236800
  617661 - Vertebral, cardiac, renal, and limb defects syndrome 2, 617661
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 kynuENSDARG00000099546Danio rerio
 ENSGALG00000012418Gallus gallus
 KynuENSMUSG00000026866Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000192  Aminotransferase class V domain
 IPR010111  Kynureninase
 IPR015421  Pyridoxal phosphate-dependent transferase, major domain
 IPR015422  Pyridoxal phosphate-dependent transferase domain 1
 IPR015424  Pyridoxal phosphate-dependent transferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006569 tryptophan catabolic process IEA
 biological_processGO:0009435 NAD biosynthetic process IEA
 biological_processGO:0019363 pyridine nucleotide biosynthetic process IEA
 biological_processGO:0019441 tryptophan catabolic process to kynurenine IBA
 biological_processGO:0019442 tryptophan catabolic process to acetyl-CoA IEA
 biological_processGO:0019805 quinolinate biosynthetic process IDA
 biological_processGO:0034341 response to interferon-gamma IDA
 biological_processGO:0034516 response to vitamin B6 IMP
 biological_processGO:0043420 anthranilate metabolic process IDA
 biological_processGO:0097053 L-kynurenine catabolic process IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0030170 pyridoxal phosphate binding IEA
 molecular_functionGO:0030429 kynureninase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0061981 3-hydroxykynureninase activity IDA


Pathways (from Reactome)
Pathway description
Tryptophan catabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000124 Renal tubular dysfunction 
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 HP:0000365 Hearing loss 
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 HP:0001249 Mental retardation 
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 HP:0001259 Coma 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001276 Hypertonia 
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 HP:0001649 Tachycardia "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:curators]
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 HP:0001942 Metabolic acidosis 
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 HP:0002086 Respiratory abnormality 
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 HP:0002615 Hypotension 
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 HP:0003011 Abnormality of musculature "Abnormality originating in one or more muscles." [HPO:curators]
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 HP:0003355 Abnormal urinary amino-acid findings 
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 HP:0007030 Nonprogressive encephalopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000115919 KYNU / Q16719 / kynureninase  / complex






 

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