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Aliases for CTH Gene

Aliases for CTH Gene

  • Cystathionine Gamma-Lyase 2 3 5
  • Cystathionase (Cystathionine Gamma-Lyase) 2 3
  • Cysteine-Protein Sulfhydrase 3 4
  • Gamma-Cystathionase 3 4
  • EC 4.4.1.1 4 58
  • Cysteine Desulfhydrase 3
  • Homoserine Dehydratase 3
  • Homoserine Deaminase 3
  • EC 4.4.1 58

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 Hyperhomocysteinemia. Among its related pathways are Viral mRNA Translation and 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.

Additional gene information for CTH Gene

No data available for CIViC summary , 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

Enhancers for CTH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H070409 1.4 FANTOM5 ENCODE 15.7 +0.0 15 3.5 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 SRSF11 HHLA3 ZRANB2 ANKRD13C CTH ENSG00000278636
GH01H070373 0.6 ENCODE 0.3 -37.3 -37330 0.9 MAZ KLF1 ZNF316 GLIS1 IKZF1 POU5F1 KLF7 PRDM10 WT1 LOC102724548 CTH
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CTH on UCSC Golden Path with GeneCards custom track

Promoters for CTH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000008422 282 2201 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Locations for CTH Gene

Genomic Locations for CTH Gene
chr1:70,411,218-70,440,114
(GRCh38/hg38)
Size:
28,897 bases
Orientation:
Plus strand
chr1:70,876,901-70,905,534
(GRCh37/hg19)

Genomic View for CTH Gene

Genes around CTH on UCSC Golden Path with GeneCards custom track

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

Selected DME Specific Peptides for CTH Gene

P32929:
  • RLRFLQNSLGAVPSP
  • FQHFATQAIH
  • NCLEKAVA
  • LVWIETPTNP
  • KLLEAAITP
  • VVDNTFMS
  • VYGGTNRYFR
  • YFQRPLALGADI
  • LGISDTLIRLSVG
  • RLSVGLED
  • VVPPISLS
  • EFGLKISFVDCSK
  • VEKVIYPGLPSHPQHEL

Post-translational modifications for CTH Gene

  • Ubiquitination at isoforms=2, 373
  • Modification sites at PhosphoSitePlus

Other Protein References for CTH Gene

Domains & Families for CTH Gene

Gene Families for CTH Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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 :
  • Belongs to the trans-sulfuration enzymes family.
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

Phenotypes From GWAS Catalog for CTH Gene

Gene Ontology (GO) - Molecular Function for CTH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003962 cystathionine gamma-synthase activity IBA --
GO:0004123 cystathionine gamma-lyase activity TAS --
GO:0005515 protein binding IPI 22169477
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with CTH: view
genes like me logo Genes that share phenotypes with CTH: view

Human Phenotype Ontology for CTH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTH Gene

MGI Knock Outs for CTH:
  • Cth tm1b(EUCOMM)Hmgu
  • Cth tm1Iish
  • Cth tm1Liwu

Animal Model Products

  • Taconic Biosciences Mouse Models for CTH

miRNA for CTH Gene

Clone Products

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

Localization for CTH Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTH Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTH gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3
mitochondrion 2
plasma membrane 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CTH Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CTH Gene

Pathways & Interactions 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:0000098 sulfur amino acid catabolic process TAS --
GO:0006534 cysteine metabolic process TAS 1339280
GO:0008652 cellular amino acid biosynthetic process IEA --
GO:0018272 protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine IDA 19019829
GO:0019343 cysteine biosynthetic process via cystathionine IDA 19428278
genes like me logo Genes that share ontologies with CTH: view

No data available for SIGNOR curated interactions for CTH Gene

Drugs & Compounds for CTH Gene

(29) Drugs for CTH Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Cysteine Approved Nutra Target 0
cystine Approved Nutra 0
Busulfan Approved, Investigational Pharma 556
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3034
Ammonia Approved Pharma 0

(13) Additional Compounds for CTH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Mercaptopyruvic acid
  • 3-Mercapto-pyruvate
  • 3-Mercapto-pyruvic acid
  • 3-Mercaptopyruvate
  • 3-Mercaptopyruvic acid
  • beta-3-Mercapto-2-oxo-propanoate
2464-23-5
L-Cystathionine
  • (R)-S-(2-amino-2-carboxyethyl)-L-Homocysteine
  • Cystathionine
  • L-(+)-Cystathionine
  • S-[(2R)-2-Amino-2-carboxyethyl]-L-Homocysteine
  • [R-(R*,S*)]-2-amino-4-[(2-amino-2-carboxyethyl)thio]-Butanoate
56-88-2
Methaneselenol
Selenocystathionine
  • 2-Amino-4-((2-amino-2-carboxyethyl)seleno)-Butanoate
  • 2-Amino-4-((2-amino-2-carboxyethyl)seleno)-Butanoic acid
  • 2-Amino-4-((2-amino-2-carboxyethyl)seleno)butanoate
  • 2-Amino-4-((2-amino-2-carboxyethyl)seleno)butanoic acid
  • Selenocystathionine
2196-58-9
Thiocysteine
  • 3-(Thiosulfeno)-Alanine
  • 3-disulfanyl-L-alanine
5652-32-4
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x15.0) and Ovary (x6.2).

Protein differential expression in normal tissues from HIPED for CTH Gene

This gene is overexpressed in Liver, secretome (34.0), Liver (20.5), and Gallbladder (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CTH Gene



Protein tissue co-expression partners for CTH Gene

NURSA nuclear receptor signaling pathways regulating expression of CTH Gene:

CTH

SOURCE GeneReport for Unigene cluster for CTH Gene:

Hs.19904

Evidence on tissue expression from TISSUES for CTH Gene

  • Liver(4.7)
  • Kidney(4.4)
  • Skin(4)
  • Blood(2.5)
  • Heart(2.1)
  • Muscle(2)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTH Gene

Germ Layers:
  • mesoderm
Systems:
  • urinary
Organs:
Abdomen:
  • kidney
genes like me logo Genes that share expression patterns 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 33 34
  • 99.34 (n)
cow
(Bos Taurus)
Mammalia CTH 33 34
  • 90.07 (n)
dog
(Canis familiaris)
Mammalia CTH 33 34
  • 86.42 (n)
mouse
(Mus musculus)
Mammalia Cth 33 16 34
  • 81.61 (n)
rat
(Rattus norvegicus)
Mammalia Cth 33
  • 80.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CTH 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CTH 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves CTH 33 34
  • 74.7 (n)
lizard
(Anolis carolinensis)
Reptilia CTH 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cth 33
  • 71.7 (n)
MGC75946 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23893 33
zebrafish
(Danio rerio)
Actinopterygii cth 33 34
  • 69.78 (n)
cthl 34
  • 69 (a)
OneToMany
wufb48e03 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10657 33
fruit fly
(Drosophila melanogaster)
Insecta Eip55E 35 33 34
  • 59.39 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011172 33
  • 56.97 (n)
worm
(Caenorhabditis elegans)
Secernentea cth-2 33 34
  • 60.61 (n)
ZK1127.10 35
  • 59 (a)
F22B8.6 35
  • 56 (a)
cth-1 34
  • 55 (a)
OneToMany
C12C8.2 35
  • 39 (a)
cbl-1 34
  • 33 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYS3 33 34 36
  • 55 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL341W 33
  • 53.72 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F07909g 33
  • 53.04 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1723 34
  • 63 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU09230 33
  • 52.52 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11783 33
Species where no ortholog for CTH was found in the sources mined by GeneCards:
  • 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
rs28941785 Pathogenic, Cystathioninuria (CSTNU) [MIM:219500] 70,415,987(+) TCCCA(A/C/T)TAGGA reference, missense, utr-variant-5-prime
rs28941786 Pathogenic, Cystathioninuria (CSTNU) [MIM:219500] 70,430,388(+) TCTTG(C/G)AAAAC reference, missense
rs17131292 Likely benign 70,411,276(+) GCTTT(A/T)GTGCG utr-variant-5-prime
rs45615634 Likely benign 70,439,671(+) TGGGC(A/G)CGGTG downstream-variant-500B, utr-variant-3-prime
rs583316 Likely benign 70,439,650(+) ttttt(A/T)aaaaa downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv830137 CNV loss 17160897
nsv546456 CNV loss 21841781
nsv546455 CNV loss 21841781
nsv522935 CNV loss 19592680
nsv461828 CNV loss 19166990

Variation tolerance for CTH Gene

Residual Variation Intolerance Score: 65.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.69; 78.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CTH Gene

Human Gene Mutation Database (HGMD)
CTH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTH

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

Disorders for CTH Gene

MalaCards: The human disease database

(6) MalaCards diseases for CTH Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cystathioninuria
  • cystathionase deficiency
hyperhomocysteinemia
congenital intrinsic factor deficiency
  • intrinsic factor deficiency
hypermethioninemia
  • deficiency of methionine adenosyltransferase
histidine metabolism disease
  • disturbances of histidine metabolism
- elite association - COSMIC cancer census association via MalaCards
Search CTH in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:18476726}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for CTH Gene

cystathionuria

Relevant External Links for CTH

Genetic Association Database (GAD)
CTH
Human Genome Epidemiology (HuGE) Navigator
CTH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 (Biochemical and biophysical research communications 1992) 2 3 4 22 60
  2. Variations in folate pathway genes are associated with unexplained female infertility. (PMID: 19324355) Altmäe S … Nilsson TK (Fertility and sterility 2010) 3 22 45 60
  3. Structural basis for the inhibition mechanism of human cystathionine gamma-lyase, an enzyme responsible for the production of H(2)S. (PMID: 19019829) Sun Q … Sivaraman J (The Journal of biological chemistry 2009) 3 4 22 60
  4. H2S biogenesis by human cystathionine gamma-lyase leads to the novel sulfur metabolites lanthionine and homolanthionine and is responsive to the grade of hyperhomocysteinemia. (PMID: 19261609) Chiku T … Banerjee R (The Journal of biological chemistry 2009) 3 4 22 60
  5. Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase. (PMID: 18476726) Zhu W … Banerjee R (Biochemistry 2008) 3 4 22 60

Products for CTH Gene

Sources for CTH Gene

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