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Aliases for CTH Gene

Aliases for CTH Gene

  • Cystathionine Gamma-Lyase 2 3
  • Cystathionase (Cystathionine Gamma-Lyase) 2 3
  • Cysteine-Protein Sulfhydrase 3 4
  • Gamma-Cystathionase 3 4
  • EC 4.4.1.1 4 63
  • Cysteine Desulfhydrase 3
  • Homoserine Dehydratase 3
  • Homoserine Deaminase 3
  • EC 4.4.1 63

External Ids for CTH Gene

Previous GeneCards Identifiers for CTH Gene

  • GC01P071000
  • GC01P069799
  • GC01P070261
  • GC01P070246
  • GC01P070588
  • GC01P070649
  • GC01P070876
  • GC01P068987

Summaries for CTH Gene

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 (Cystathionine Gamma-Lyase) is a Protein Coding gene. Diseases associated with CTH include cystathioninuria and gamma-cystathionase deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include calmodulin binding and carbon-sulfur lyase activity.

UniProtKB/Swiss-Prot for CTH Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTH Gene

Genomics for CTH Gene

Regulatory Elements for CTH Gene

Genomic Location for CTH Gene

Start:
70,411,218 bp from pter
End:
70,439,851 bp from pter
Size:
28,634 bases
Orientation:
Plus strand

Genomic View for CTH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CTH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTH Gene

Proteins for CTH Gene

  • Protein details for CTH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32929-CGL_HUMAN
    Recommended name:
    Cystathionine gamma-lyase
    Protein Accession:
    P32929
    Secondary Accessions:
    • B4E1R2
    • E9PDV0
    • Q53FB3
    • Q53Y79
    • Q9H4W7
    • Q9H4W8

    Protein attributes for CTH Gene

    Size:
    405 amino acids
    Molecular mass:
    44508 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homotetramer. Interacts with CALM in a calcium-dependent manner (By similarity).

    Three dimensional structures from OCA and Proteopedia for CTH Gene

    Alternative splice isoforms for CTH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTH Gene

Proteomics data for CTH Gene at MOPED

Post-translational modifications for CTH Gene

  • Ubiquitination at Lys73
  • Modification sites at PhosphoSitePlus

Other Protein References for CTH Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for CTH Gene

Gene Families for CTH Gene

Suggested Antigen Peptide Sequences for CTH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P32929

UniProtKB/Swiss-Prot:

CGL_HUMAN :
  • P32929
Family:
  • Belongs to the trans-sulfuration enzymes family.
genes like me logo Genes that share domains with CTH: view

Function for CTH Gene

Molecular function for CTH Gene

GENATLAS Biochemistry: cystathionase,sulfur aminoacid metabolism
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=0.5 mM for L-cystathionine {ECO:0000269 PubMed:10212249, ECO:0000269 PubMed:18476726}; KM=5.4 mM for homocysteine {ECO:0000269 PubMed:10212249, ECO:0000269 PubMed:18476726}; KM=3.5 mM for cysteine {ECO:0000269 PubMed:10212249, ECO:0000269 PubMed:18476726}; pH dependence: Optimum pH is 8.2. {ECO:0000269 PubMed:10212249, ECO:0000269 PubMed:18476726};
UniProtKB/Swiss-Prot CatalyticActivity: L-cystathionine + H(2)O = L-cysteine + NH(3) + 2-oxobutanoate.
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by propargylglycine, trifluoroalanine and aminoethoxyvinylglycine.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for CTH Gene

Gene Ontology (GO) - Molecular Function for CTH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004123 cystathionine gamma-lyase activity TAS --
GO:0005515 protein binding IPI 22169477
GO:0005516 calmodulin binding IEA --
GO:0016846 carbon-sulfur lyase activity TAS --
GO:0030170 pyridoxal phosphate binding IDA 10212249
genes like me logo Genes that share ontologies with CTH: view
genes like me logo Genes that share phenotypes with CTH: view

Animal Models for CTH Gene

MGI Knock Outs for CTH:

miRNA for CTH Gene

No data available for Transcription Factor Targeting and HOMER Transcription for CTH Gene

Localization for CTH Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTH Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CTH Gene COMPARTMENTS Subcellular localization image for CTH gene
Compartment Confidence
cytosol 4
nucleus 4
endoplasmic reticulum 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CTH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CTH: view

Pathways for CTH Gene

genes like me logo Genes that share pathways with CTH: view

UniProtKB/Swiss-Prot P32929-CGL_HUMAN

  • Pathway: Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 2/2

Gene Ontology (GO) - Biological Process for CTH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000096 sulfur amino acid metabolic process TAS --
GO:0000098 sulfur amino acid catabolic process TAS --
GO:0006534 cysteine metabolic process TAS 1339280
GO:0008152 metabolic process --
GO:0009058 biosynthetic process --
genes like me logo Genes that share ontologies with CTH: view

Compounds for CTH Gene

(13) HMDB Compounds for CTH Gene

Compound Synonyms Cas Number PubMed IDs
2-Ketobutyric acid
  • 2-Ketobutanoate
600-18-0
3-Mercaptopyruvic acid
  • 3-Mercaptopyruvate
2464-23-5
Ammonia
  • NH3
7664-41-7
Hydrogen sulfide
  • Dihydrogen disulfide
7783-06-4
L-Cystathionine
  • L-(+)-Cystathionine
56-88-2

(5) Drugbank Compounds for CTH Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2-[(3-Hydroxy-2-Methyl-5-Phosphonooxymethyl-Pyridin-4-Ylmethyl)-Imino]-5-Phosphono-Pent-3-Enoic Acid
target
Carboxymethylthio-3-(3-Chlorophenyl)-1,2,4-Oxadiazol
target
L-2-amino-3-butynoic acid
  • (S)-2-Amino-3-butynoic acid
73537-09-4 target
L-Cysteine
  • (R)-2-Amino-3-mercaptopropanoic acid
52-90-4 target
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 target cofactor

(1) IUPHAR Ligand for CTH Gene

Ligand Type Action Affinity Pubmed IDs
propargylglycine Inhibitor Inhibition

(24) Novoseek inferred chemical compound relationships for CTH Gene

Compound -log(P) Hits PubMed IDs
cystathionine 96.6 90
propargylglycine 95.2 7
3-mercaptopyruvate 85.4 4
sulfur 83.5 19
o-succinylhomoserine 82.8 1
genes like me logo Genes that share compounds with CTH: view

Transcripts for CTH Gene

Unigene Clusters for CTH Gene

Cystathionase (cystathionine gamma-lyase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CTH Gene

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

Relevant External Links for CTH Gene

GeneLoc Exon Structure for
CTH
ECgene alternative splicing isoforms for
CTH

Expression for CTH Gene

mRNA expression in normal human tissues for CTH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTH Gene

This gene is overexpressed in Liver (15.0) and Ovary (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CTH Gene

SOURCE GeneReport for Unigene cluster for CTH Gene Hs.19904

genes like me logo Genes that share expressions with CTH: view

No data available for mRNA Expression by UniProt/SwissProt for CTH Gene

Orthologs for CTH Gene

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

Orthologs for CTH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTH 35
  • 99.34 (n)
  • 99.26 (a)
CTH 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CTH 35
  • 90.07 (n)
  • 90.32 (a)
CTH 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTH 35
  • 86.42 (n)
  • 89.63 (a)
CTH 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cth 35
  • 81.61 (n)
  • 85.64 (a)
Cth 16
Cth 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CTH 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTH 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cth 35
  • 80.77 (n)
  • 84.89 (a)
chicken
(Gallus gallus)
Aves CTH 35
  • 74.7 (n)
  • 79.23 (a)
CTH 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTH 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23893 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cth 35
  • 71.7 (n)
  • 76.21 (a)
MGC75946 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10657 35
zebrafish
(Danio rerio)
Actinopterygii cth 35
  • 69.78 (n)
  • 76.52 (a)
cth 36
  • 75 (a)
OneToMany
cthl 36
  • 69 (a)
OneToMany
wufb48e03 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011172 35
  • 56.97 (n)
  • 60.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta Eip55E 35
  • 59.39 (n)
  • 63.42 (a)
Eip55E 36
  • 62 (a)
OneToOne
Eip55E 37
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea cbl-1 36
  • 33 (a)
OneToMany
cth-1 36
  • 55 (a)
OneToMany
cth-2 35
  • 60.61 (n)
  • 59.74 (a)
cth-2 36
  • 58 (a)
OneToMany
F22B8.6 37
  • 56 (a)
C12C8.2 37
  • 39 (a)
ZK1127.10 37
  • 59 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL341W 35
  • 53.72 (n)
  • 52.23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYS3 35
  • 55 (n)
  • 53.05 (a)
CYS3 36
  • 51 (a)
OneToOne
CYS3 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F07909g 35
  • 53.04 (n)
  • 52.08 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09230 35
  • 52.52 (n)
  • 51.99 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11783 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1723 36
  • 63 (a)
OneToOne
Species with no ortholog for CTH:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTH Gene

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

Paralogs for CTH Gene

No data available for Paralogs for CTH Gene

Variants for CTH Gene

Sequence variations from dbSNP and Humsavar for CTH Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs473334 -- 70,431,284(+) ATTTG(A/G)TAAAG intron-variant
rs475263 -- 70,434,941(+) AGAGA(C/T)GGGGT intron-variant
rs481654 -- 70,415,569(-) AAATG(A/G)CAGTT intron-variant
rs482291 -- 70,413,169(-) GAACT(C/G)TATCT intron-variant
rs487773 -- 70,412,096(+) gaacc(A/G)aattc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CTH Gene

Variant ID Type Subtype PubMed ID
nsv830137 CNV Loss 17160897
nsv871100 CNV Gain 21882294
nsv461828 CNV Loss 19166990
nsv522935 CNV Loss 19592680

Relevant External Links for CTH Gene

HapMap Linkage Disequilibrium report
CTH
Human Gene Mutation Database (HGMD)
CTH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTH Gene

Disorders for CTH Gene

(1) OMIM Diseases for CTH Gene (607657)

UniProtKB/Swiss-Prot

CGL_HUMAN
  • Cystathioninuria (CSTNU) [MIM:219500]: Autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion. {ECO:0000269 PubMed:12574942}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for CTH Gene

(5) Novoseek inferred disease relationships for CTH Gene

Disease -log(P) Hits PubMed IDs
cystathioninuria 91.7 5
hyperhomocysteinemia 66.7 1
liver cirrhosis 17.3 1
vascular diseases 13 1
tumors 2.75 1

Genatlas disease for CTH Gene

cystathionuria

Relevant External Links for CTH

Genetic Association Database (GAD)
CTH
Human Genome Epidemiology (HuGE) Navigator
CTH
genes like me logo Genes that share disorders with CTH: view

Publications for CTH Gene

  1. Cloning and nucleotide sequence of human liver cDNA encoding for cystathionine gamma-lyase. (PMID: 1339280) Lu Y. … Israel Y. (Biochem. Biophys. Res. Commun. 1992) 2 3 4 23
  2. Kinetics and inhibition of recombinant human cystathionine gamma- lyase. Toward the rational control of transsulfuration. (PMID: 10212249) Steegborn C. … Wahl M.C. (J. Biol. Chem. 1999) 3 4 23
  3. Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). (PMID: 12574942) Wang J. … Hegele R.A. (Hum. Genet. 2003) 3 4 23
  4. Single nucleotide polymorphism in CTH associated with variation in plasma homocysteine concentration. (PMID: 15151507) Wang J. … Hegele R.A. (Clin. Genet. 2004) 3 23 48
  5. Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer. (PMID: 17311259) Moore L.E. … GarcA-a-Closas M. (Int. J. Cancer 2007) 3 23 48

Products for CTH Gene

Sources for CTH Gene

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