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CTH Gene

protein-coding   GIFtS: 71
GCID: GC01P070876

Cystathionase (Cystathionine Gamma-Lyase)

  See CTH-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
Cystathionase (Cystathionine Gamma-Lyase)1 2     gamma-cystathionase2
Cysteine-Protein Sulfhydrase2 3     Homoserine Deaminase2
EC 4.4.1.13 8     Homoserine Dehydratase2
Cystathionine Gamma-Lyase2     Gamma-cystathionase3
Cysteine Desulfhydrase2     EC 4.4.18

External Ids:    HGNC: 25011   Entrez Gene: 14912   Ensembl: ENSG000001167617   OMIM: 6076575   UniProtKB: P329293   

Export aliases for CTH gene to outside databases

Previous GC identifers: GC01P071000 GC01P069799 GC01P070261 GC01P070246 GC01P070588 GC01P070649 GC01P068987


(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 CTH Gene:
This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from
methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine.
Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript
variants encoding different isoforms. (provided by RefSeq, Jun 2010)

GeneCards Summary for CTH Gene:
CTH (cystathionase (cystathionine gamma-lyase)) is a protein-coding gene. Diseases associated with CTH include gamma-cystathionase deficiency, and homocysteine, total plasma, elevated. GO annotations related to this gene include carbon-sulfur lyase activity and calmodulin binding.

UniProtKB/Swiss-Prot: CGL_HUMAN, P32929
Function: Catalyzes the last step in the trans-sulfuration pathway from methionine to cysteine. Has broad
substrate specificity. Converts cystathionine to cysteine, ammonia and 2-oxobutanoate. Converts two cysteine
molecules to lanthionine and hydrogen sulfide. Can also accept homocysteine as substrate. Specificity depends on
the levels of the endogenous substrates. Generates the endogenous signaling molecule hydrogen sulfide (H2S), and
so contributes to the regulation of blood pressure. Acts as a cysteine-protein sulfhydrase by mediating
sulfhydration of target proteins: sulfhydration consists of converting -SH groups into -SSH on specific cysteine
residues of target proteins such as GAPDH, PTPN1 and NF-kappa-B subunit RELA, thereby regulating their function




(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 at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CTH gene promoter:
         AhR   CUTL1   Arnt   AREB6   Max   IRF-2   FOXO1a   Sox9   FOXO1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTH promoter sequence
   Search Chromatin IP Primers for CTH

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


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

Entrez Gene cytogenetic band: 1p31.1   Ensembl cytogenetic band:  1p31.1   HGNC cytogenetic band: 1p31.1

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P070876:  view genomic region     (about GC identifiers)

Start:
70,876,901 bp from pter      End:
70,905,534 bp from pter
Size:
28,634 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CGL_HUMAN, P32929 (See protein sequence)
Recommended Name: Cystathionine gamma-lyase  
Size: 405 amino acids; 44508 Da
Cofactor: Pyridoxal phosphate
Subunit: Homotetramer. Interacts with CALM in a calcium-dependent manner (By similarity)
3 PDB 3D structures from and Proteopedia for CTH:
2NMP (3D)        3COG (3D)        3ELP (3D)    
Secondary accessions: B4E1R2 E9PDV0 Q53FB3 Q53Y79 Q9H4W7 Q9H4W8
Alternative splicing: 3 isoforms:  P32929-1   P32929-2   P32929-3   

Explore the universe of human proteins at neXtProt for CTH: NX_P32929

Explore proteomics data for CTH at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys73
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CTH (P32929) (see all 13)
     VVDNTFMS  RLSVGLED  VVPPISLS  NCLEKAVA 


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

    REFSEQ proteins (3 alternative transcripts): 
    NP_001177392.1  NP_001893.2  NP_714964.2  

    ENSEMBL proteins: 
     ENSP00000359976   ENSP00000311554   ENSP00000413407  
    Reactome Protein details: P32929

    CTH Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CTH
    OriGene Protein Over-expression Lysate for CTH
    OriGene MassSpec for CTH
    OriGene Custom Protein Services for CTH
    GenScript Custom Purified and Recombinant Proteins Services for CTH
    Novus Biologicals CTH Proteins
    Novus Biologicals CTH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CTH
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CTH 

    CTH Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for CTH
    OriGene Custom Antibody Services for CTH
    Novus Biologicals CTH Antibodies
    Abcam antibodies for CTH
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for CTH
    LSBio Antibodies in human, mouse, rat for CTH

    CTH Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CTH
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CTH
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for CTH 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Cystathionine gamma-lyase
    Hydrogen sulphide synthesis

    4 InterPro protein domains:
     IPR000277 Cys/Met-Metab_PyrdxlP-dep_enz
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR015424 PyrdxlP-dep_Trfase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1

    Graphical View of Domain Structure for InterPro Entry P32929

    ProtoNet protein and cluster: P32929

    1 Blocks protein domain: IPB000277 Cys/Met metabolism pyridoxal-phosphate-dependent enzymes

    UniProtKB/Swiss-Prot: CGL_HUMAN, P32929
    Similarity: Belongs to the trans-sulfuration enzymes family


    Find genes that share domains with CTH           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CGL_HUMAN, P32929
    Function: Catalyzes the last step in the trans-sulfuration pathway from methionine to cysteine. Has broad
    substrate specificity. Converts cystathionine to cysteine, ammonia and 2-oxobutanoate. Converts two cysteine
    molecules to lanthionine and hydrogen sulfide. Can also accept homocysteine as substrate. Specificity depends on
    the levels of the endogenous substrates. Generates the endogenous signaling molecule hydrogen sulfide (H2S), and
    so contributes to the regulation of blood pressure. Acts as a cysteine-protein sulfhydrase by mediating
    sulfhydration of target proteins: sulfhydration consists of converting -SH groups into -SSH on specific cysteine
    residues of target proteins such as GAPDH, PTPN1 and NF-kappa-B subunit RELA, thereby regulating their function
    Catalytic activity: L-cystathionine + H(2)O = L-cysteine + NH(3) + 2-oxobutanoate
    Enzyme regulation: Inhibited by propargylglycine, trifluoroalanine and aminoethoxyvinylglycine
    Biophysicochemical properties: Kinetic parameters: KM=0.5 mM for L-cystathionine; KM=5.4 mM for homocysteine;
    KM=3.5 mM for cysteine; pH dependence: Optimum pH is 8.2;

         Genatlas biochemistry entry for CTH:
    cystathionase,sulfur aminoacid metabolism

         Enzyme Numbers (IUBMB): EC 4.4.1.11 2 EC 4.4.12

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004123cystathionine gamma-lyase activity TAS--
    GO:0005515protein binding IPI--
    GO:0005516calmodulin binding IEA--
    GO:0016846carbon-sulfur lyase activity TAS--
    GO:0030170pyridoxal phosphate binding IDA10212249
         
    Find genes that share ontologies with CTH           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cth):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  homeostasis/metabolism 
     liver/biliary system  mortality/aging  muscle  renal/urinary system 

    Find genes that share phenotypes with CTH           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cthtm1Liwu for CTH

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CTH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CTH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CTH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CTH

    miRNA
    Products:
        
    miRTarBase miRNAs that target CTH:
    hsa-mir-192-5p (MIRT026956), hsa-mir-335-5p (MIRT019085), hsa-mir-26b-5p (MIRT030353), hsa-mir-215-5p (MIRT024887)

    Block miRNA regulation of human, mouse, rat CTH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CTH (see all 14):
    hsa-miR-222* hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-3653 hsa-miR-4282 hsa-miR-3647-3p hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidCTH 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CTH
    Predesigned siRNA for gene silencing in human, mouse, rat CTH

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CTH

    Clone
    Products:
         
    OriGene clones in human, mouse for CTH (see all 14)
    OriGene ORF clones in mouse, rat for CTH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CTH (NM_153742)
    Sino Biological Human cDNA Clone for CTH
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTH

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CTH
    Browse ESI BIO Cell Lines and PureStem Progenitors for CTH 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTH


    (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
    CGL_HUMAN, P32929: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    endoplasmic reticulum1
    extracellular1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with CTH           About GenesLikeMe


    (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 CTH About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Sulfur amino acid metabolism
    Sulfur amino acid metabolism0.35
    Degradation of cysteine and homocysteine0.00
    Cysteine and methionine metabolism0.35
    2One carbon pool by folate
    Trans-sulfuration and one carbon metabolism0.43
    Methionine metabolism0.35
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Trans-sulfuration pathway
    Trans-sulfuration pathway
    Cysteine formation from homocysteine0.00
    5Carbon metabolism
    Biosynthesis of amino acids0.38


    Find genes that share SuperPaths with CTH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for CTH
        Methionine metabolism

    4 BioSystems Pathways for CTH
        Selenium Metabolism and Selenoproteins
    Trans-sulfuration pathway
    Selenium Pathway
    Trans-sulfuration and one carbon metabolism


    2 Reactome Pathways for CTH
        Degradation of cysteine and homocysteine
    Cysteine formation from homocysteine

    1 PharmGKB Pathway for CTH
        Busulfan Pathway, Pharmacodynamics

    5 Kegg Pathways  (Kegg details for CTH):
        Glycine, serine and threonine metabolism
    Cysteine and methionine metabolism
    Selenocompound metabolism
    Metabolic pathways
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: CGL_HUMAN, P32929
    Pathway: Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 2/2

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

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CTH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CTH (P329292, 3 ENSP000003599764) via UniProtKB, MINT, STRING, and/or I2D (see all 173)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3, ENSP000003095034MINT-3319239 I2D: score=1 STRING: ENSP00000309503
    PPATQ062033, ENSP000002642204I2D: score=4 STRING: ENSP00000264220
    GCLCP485063, ENSP000002294164I2D: score=1 STRING: ENSP00000229416
    MARSP561923, ENSP000002620274I2D: score=1 STRING: ENSP00000262027
    UBCP0CG483, ENSP000003448184I2D: score=2 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS--
    GO:0000098sulfur amino acid catabolic process TAS--
    GO:0006534cysteine metabolic process TAS1339280
    GO:0008152metabolic process ----
    GO:0009058biosynthetic process ----

    Find genes that share ontologies with CTH           About GenesLikeMe



    (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 CTH (CGL)

    Selected HMDB Compounds for CTH (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Ketobutyric acid2-Ketobutanoate (see all 35)600-18-0--
    3-Mercaptopyruvic acid3-Mercaptopyruvate (see all 13)2464-23-5--
    AmmoniaNH3 (see all 31)7664-41-7--
    Hydrogen sulfideDihydrogen disulfide (see all 24)7783-06-4--
    L-CystathionineL-(+)-Cystathionine (see all 6)56-88-2--
    L-Cysteine(+)-2-Amino-3-mercaptopropionic acid (see all 37)52-90-4--
    L-Cystine(-)-Cystine (see all 31)56-89-3--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--
    Pyruvic acid2-Oxopropanoate (see all 14)127-17-3--
    SelenocystathionineSelenate (see all 7)2196-58-9--

    5 DrugBank Compounds for CTH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor17377202 11578145 15184188 16857832 15823094
    L-Cysteine(R)-2-Amino-3-mercaptopropanoic acid (see all 13)52-90-4target--16428267 16108046 17634391
    L-2-amino-3-butynoic acid(S)-2-Amino-3-butynoic acid (see all 4)73537-09-4target--10954021 10592235
    2-[(3-Hydroxy-2-Methyl-5-Phosphonooxymethyl-Pyridin-4-Ylmethyl)-Imino]-5-Phosphono-Pent-3-Enoic Acid-- --target--10592235
    Carboxymethylthio-3-(3-Chlorophenyl)-1,2,4-Oxadiazol-- --target--10592235

    1 IUPHAR Ligand for CTH (Cystathionine gamma-lyase)    About this table
    LigandTypeActionAffinityPubmed IDs
    propargylglycine
    InhibitorInhibition--

    Selected Novoseek inferred chemical compound relationships for CTH gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystathionine 96.6 135 17095121 (8), 10212249 (4), 12574942 (3), 9299397 (3) (see all 62)
    propargylglycine 95.2 14 10212249 (1), 15157211 (1), 2033464 (1), 7923149 (1) (see all 7)
    3-mercaptopyruvate 85.4 4 15329822 (1), 19654230 (1), 18781374 (1), 11785922 (1)
    sulfur 83.5 22 17112409 (2), 19261609 (1), 19531479 (1), 16781459 (1) (see all 18)
    o-succinylhomoserine 82.8 1 8112347 (1)
    cysteine 78.9 48 11010904 (2), 17377202 (1), 19261609 (1), 2033464 (1) (see all 35)
    homocysteine 75.6 11 12574942 (1), 20361707 (1), 12631446 (1), 19685245 (1) (see all 10)
    methionine 72.7 14 2366104 (1), 9488680 (1), 12574942 (1), 15038791 (1) (see all 13)
    pyridoxal 5-phosphate 70.2 7 17377202 (1), 19019829 (1), 10609891 (1), 18476726 (1)
    cystine 65.7 5 19886835 (3), 2033464 (1), 20028852 (1)



    Find genes that share compounds with CTH           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CTH gene (3 alternative transcripts): 
    NM_001190463.1  NM_001902.5  NM_153742.4  

    Unigene Cluster for CTH:

    Cystathionase (cystathionine gamma-lyase)
    Hs.19904  [show with all ESTs]
    Unigene Representative Sequence: NM_001902
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000464926 ENST00000370938(uc009wbl.2) ENST00000346806 ENST00000482383
    ENST00000411986(uc001dfd.3 uc010oqq.2 uc001dfe.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CTH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CTH (see all 14):
    hsa-miR-222* hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-3653 hsa-miR-4282 hsa-miR-3647-3p hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidCTH 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CTH
    Predesigned siRNA for gene silencing in human, mouse, rat CTH
    Clone
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    OriGene clones in human, mouse for CTH (see all 14)
    OriGene ORF clones in mouse, rat for CTH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CTH (NM_153742)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTH
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CTH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CTH
      QuantiTect SYBR Green Assays in human, mouse, rat CTH
      QuantiFast Probe-based Assays in human, mouse, rat CTH

    Additional mRNA sequence: 

    AK223376.1 AK303946.1 BC015807.2 BT006882.1 S52028.1 S52784.1 

    5 DOTS entries:

    DT.91759951  DT.100776268  DT.100655616  DT.91759947  DT.91759950 

    Selected AceView cDNA sequences (see all 67):

    NM_153742 BQ229593 AI355971 BX094409 BC015807 BE463900 BE552296 BT006882 
    BM930334 NM_001902 BU627168 BU164448 BU173156 AI961230 BE048573 BF062348 
    S52784 BQ000482 S52028 BG683146 BI828168 AL713512 BG500887 BU183034 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CTH    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c
    SP1:                    -                                                     -                                 
    SP2:                    -                       -                             -                                 
    SP3:                    -           -                                                                           
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for CTH

    (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)
    About This Section

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    CTH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTATAATAT
    CTH Expression
    About this image


    CTH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Ovary (Reproductive System)
    CTH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CTH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.19904
        Pathway & Disease-focused RT2 Profiler PCR Array including CTH: 
              Amino Acid Metabolism I in human mouse rat

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    OriGene qSTAR qPCR primer pairs in human, mouse for CTH
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTH

    (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)
    About This Section

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

    Orthologs for CTH gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cth1 , 5 cystathionase (cystathionine gamma-lyase)1, 5 81.61(n)1
    85.64(a)1
      3 (81.55 cM)5
    1078691  NM_145953.21  NP_666065.11 
     1578942485 
    chicken
    (Gallus gallus)
    Aves CTH1 cystathionase (cystathionine gamma-lyase) 74.7(n)
    79.23(a)
      424716  XM_422542.4  XP_422542.2 
    lizard
    (Anolis carolinensis)
    Reptilia CTH6
    cystathionase (cystathionine gamma-lyase)
    76(a)
    1 ↔ 1
    GL343328.1(1243735-1275814)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.238932 Xenopus laevis transcribed sequence with moderate similarity more 77.31(n)    BU905591.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb48e032 Danio rerio cDNA clone MGC66001 IMAGE6792913, complete more 74.55(n)    BC056538.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Eip55E1 , 3 sulfur amino acid metabolism
    cystathionine-gamma-lyase3
    Eip55E1
    62(a)3
    59.39(n)1
    63.42(a)1
      55E33
    371431  NM_137508.31  NP_611352.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK1127.103
    cth-21
    cystathionine gamma-lyase3
    cth-21
    59(a)
    (best of 3)3
    60.61(n)1
    59.74(a)1
      II(7056248-7057875)3
    1741551  NM_063048.51  NP_495449.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CYS3(YAL012W)4
    CYS31
    Cystathionine gamma-lyase, catalyzes one of the two more4
    CYS31
    55(n)1
    53.05(a)1
      1(130799-131983)4
    8512211, 4  NP_009390.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (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)
    About This Section

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    Selected SNPs for CTH (see all 626)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289417851,2,,4
    C,FCystathioninuria (CSTNU)4 pathogenic170952825(+) TCCCAC/TTAGGA 6 T I mis1 ese32Minor allele frequency- T:0.01NA EU 5829
    rs289417861,2,,4
    CCystathioninuria (CSTNU)4 pathogenic170967225(+) TCTTGC/GAAAAC 6 Q E mis10--------
    rs10217371,2,,4
    C,F,O,A,Hpathogenic170975957(+) TGGAAG/TTCACA 6 S I mis128Minor allele frequency- T:0.22NS EA NA WA EU 8818
    rs556498421,2
    C--70880506(+) TTTTTT/-CCCGA 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs1126384051,2
    C--70882237(+) CACCCC/TGCTAA 3 -- int11Minor allele frequency- T:0.00CSA 1
    rs348066451,2
    C--70882243(+) CTAATT/-TTTTT 3 -- int11Minor allele frequency- -:0.50NA 2
    rs340466631,2
    C,F--70884761(+) TGTTTG/AGTTTT 3 -- int12Minor allele frequency- A:0.25NA 4
    rs114131971,2
    C,F--70889255(+) AAAAA-/A/AA  
            
    GAAAG
    3 -- int1 trp32NA CSA 4
    rs721446981,2
    C--70894282(+) AGACATATT/-  
            
    TATTT
    3 -- int11Minor allele frequency- -:0.50CSA 2
    rs594109351,2
    C--70894307(+) TATTT-/ATTT  
            
    GAGAC
    3 -- int11Minor allele frequency- ATTT:0.00NA 2

    HapMap Linkage Disequilibrium report for CTH (70876901 - 70905534 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CTH:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv461828CNV Loss19166990
    nsv830137CNV Loss17160897
    nsv522935CNV Loss19592680
    nsv871100CNV Gain21882294

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 607657   
    OMIM disorders: 219500  
    UniProtKB/Swiss-Prot: CGL_HUMAN, P32929
  • Cystathioninuria (CSTNU) [MIM:219500]: Autosomal recessive phenotype characterized by abnormal
    accumulation of plasma cystathionine, leading to increased urinary excretion. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 5 diseases for CTH:    
    About MalaCards
    gamma-cystathionase deficiency    homocysteine, total plasma, elevated    hyperhomocysteinemia    hypermethioninemia
    mitochondrial dna depletion syndrome

    3 diseases from the University of Copenhagen DISEASES database for CTH:
    Hypermethioninemia     Hyperhomocysteinemia     Homocystinuria

    Find genes that share disorders with CTH           About GenesLikeMe

    5 Novoseek inferred disease relationships for CTH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystathioninuria 91.7 8 12574942 (3), 15887277 (1), 15151507 (1)
    hyperhomocysteinemia 66.7 1 19261609 (1)
    liver cirrhosis 17.3 1 10994627 (1)
    vascular diseases 13 1 12574942 (1)
    tumors 2.75 1 7923149 (1)

    Genatlas disease: CTH
    cystathionuria

    Genetic Association Database (GAD): CTH
    Human Genome Epidemiology (HuGE) Navigator: CTH (21 documents)

    Export disorders for CTH 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)
    About This Section

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    PubMed articles for CTH gene, integrated from 10 sources (see all 154):
    (articles sorted by number of sources associating them with CTH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and nucleotide sequence of human liver cDNA encoding for cystathionine gamma-lyase. (PubMed id 1339280)1, 2, 3, 9 Lu Y.... Israel Y. (Biochem. Biophys. Res. Commun. 1992)
    2. Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). (PubMed id 12574942)1, 2, 9 Wang J. and Hegele R.A. (Hum. Genet. 2003)
    3. Single nucleotide polymorphism in CTH associated with variation in plasma homocysteine concentration. (PubMed id 15151507)1, 4, 9 Wang J....Hegele R.A. (Clin. Genet. 2004)
    4. Relationship between cystathionine gamma-lyase gene polymorphism and essential hypertension in Northern Chinese Han population. (PubMed id 18701025)1, 4, 9 Li Y....Gu D.F. (Chin. Med. J. 2008)
    5. Kinetics and inhibition of recombinant human cystathionine gamma- lyase. Toward the rational control of transsulfuration. (PubMed id 10212249)1, 2, 9 Steegborn C.... Wahl M.C. (J. Biol. Chem. 1999)
    6. Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer. (PubMed id 17311259)1, 4, 9 Moore L.E....GarcA-a-Closas M. (Int. J. Cancer 2007)
    7. Structural basis for the inhibition mechanism of human cystathionine gamma-lyase, an enzyme responsible for the production of H(2)S. (PubMed id 19019829)1, 2, 9 Sun Q....Sivaraman J. (J. Biol. Chem. 2009)
    8. H2S biogenesis by human cystathionine gamma-lyase leads to the novel sulfur metabolites lanthionine and homolanthionine and is responsive to the grade of hyperhomocysteinemia. (PubMed id 19261609)1, 2, 9 Chiku T.... Banerjee R. (J. Biol. Chem. 2009)
    9. Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase. (PubMed id 18476726)1, 2, 9 Zhu W.... Banerjee R. (Biochemistry 2008)
    10. Variations in folate pathway genes are associated with unexplained female infertility. (PubMed id 19324355)1, 4, 9 AltmAoe S....Nilsson T.K. (Fertil. Steril. 2010)

    (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)
    About This Section

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    Entrez Gene: 1491 HGNC: 2501 AceView: CTH Ensembl:ENSG00000116761 euGenes: HUgn1491
    ECgene: CTH Kegg: 1491 H-InvDB: CTH

    (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 CTH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CTH[genesymbol]

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

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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