ENSG00000116761


Homo sapiens

Features
Gene ID: ENSG00000116761
  
Biological name :CTH
  
Synonyms : CTH / cystathionine gamma-lyase / P32929
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p31.1
Gene start: 70411218
Gene end: 70439851
  
Corresponding Affymetrix probe sets: 206085_s_at (Human Genome U133 Plus 2.0 Array)   217127_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000311554
Ensembl peptide - ENSP00000359976
Ensembl peptide - ENSP00000413407
NCBI entrez gene - 1491     See in Manteia.
OMIM - 607657
RefSeq - XM_017000416
RefSeq - NM_001190463
RefSeq - NM_001902
RefSeq - NM_153742
RefSeq - XM_005270509
RefSeq Peptide - NP_714964
RefSeq Peptide - NP_001177392
RefSeq Peptide - NP_001893
swissprot - P32929
Ensembl - ENSG00000116761
  
Related genetic diseases (OMIM): 219500 - Cystathioninuria, 219500
  607657 - Homocysteine, total plasma, elevated
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
 cthENSDARG00000074301Danio rerio
 cthlENSDARG00000032206Danio rerio
 CTHENSGALG00000011331Gallus gallus
 CthENSMUSG00000028179Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000277  Cys/Met metabolism, pyridoxal phosphate-dependent enzyme
 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:0000098 sulfur amino acid catabolic process TAS
 biological_processGO:0006534 cysteine metabolic process TAS
 biological_processGO:0008652 cellular amino acid biosynthetic process IEA
 biological_processGO:0018272 protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine IDA
 biological_processGO:0019343 cysteine biosynthetic process via cystathionine IDA
 biological_processGO:0019344 cysteine biosynthetic process IEA
 biological_processGO:0019346 transsulfuration TAS
 biological_processGO:0030968 endoplasmic reticulum unfolded protein response TAS
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IEA
 biological_processGO:0044524 protein sulfhydration IMP
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IEA
 biological_processGO:0051289 protein homotetramerization IPI
 biological_processGO:0070814 hydrogen sulfide biosynthetic process TAS
 biological_processGO:0071266 "de novo" L-methionine biosynthetic process IBA
 biological_processGO:1904831 positive regulation of aortic smooth muscle cell differentiation IMP
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEA
 biological_processGO:2001234 negative regulation of apoptotic signaling pathway IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0003962 cystathionine gamma-synthase activity IBA
 molecular_functionGO:0004123 cystathionine gamma-lyase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0016846 carbon-sulfur lyase activity TAS
 molecular_functionGO:0030170 pyridoxal phosphate binding IDA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0044540 L-cystine L-cysteine-lyase (deaminating) IMP
 molecular_functionGO:0047982 homocysteine desulfhydrase activity TAS
 molecular_functionGO:0080146 L-cysteine desulfhydrase activity TAS


Pathways (from Reactome)
Pathway description
Degradation of cysteine and homocysteine
Cysteine formation from homocysteine
Metabolism of ingested SeMet, Sec, MeSec into H2Se


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:0003153 Cystathioninuria 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000116761 CTH / P32929 / cystathionine gamma-lyase  / complex






 

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