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CTH cystathionine gamma-lyase [ Homo sapiens (human) ]

Gene ID: 1491, updated on 5-Mar-2024

Summary

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Official Symbol
CTHprovided by HGNC
Official Full Name
cystathionine gamma-lyaseprovided by HGNC
Primary source
HGNC:HGNC:2501
See related
Ensembl:ENSG00000116761 MIM:607657; AllianceGenome:HGNC:2501
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CGL; CSE
Summary
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]
Expression
Biased expression in liver (RPKM 17.3), adrenal (RPKM 4.0) and 12 other tissues See more
Orthologs
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Genomic context

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Location:
1p31.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (70411268..70439851)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (70289775..70318361)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (70876951..70905534)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 13C Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:70818812-70820011 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:70820190-70821107 Neighboring gene ANKRD13C divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1193 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:70826052-70826245 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:70833556-70834402 Neighboring gene long intergenic non-protein coding RNA 3102 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:70837138-70838020 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:70838021-70838902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1195 Neighboring gene uncharacterized LOC105378793 Neighboring gene MPRA-validated peak283 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:70925492-70926298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1196 Neighboring gene NANOG hESC enhancer GRCh37_chr1:70994367-70994868 Neighboring gene CHORDC1 pseudogene 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cystathionine γ-lyase mediates cell proliferation, migration, and invasion of nasopharyngeal carcinoma. Zhang Q, et al. Oncogene, 2022 Dec. PMID 36310322
  2. A novel cystathionine γ-lyase inhibitor, I194496, inhibits the growth and metastasis of human TNBC via downregulating multiple signaling pathways. Liu Y, et al. Sci Rep, 2021 Apr 26. PMID 33903672, Free PMC Article
  3. Association between an indel polymorphism within CTH and the risk of sudden cardiac death in a Chinese population. Zhou W, et al. Leg Med (Tokyo), 2020 Sep. PMID 32563979
  4. Shear stress regulates cystathionine γ lyase expression to preserve endothelial redox balance and reduce membrane lipid peroxidation. Bibli SI, et al. Redox Biol, 2020 Jan. PMID 31759247, Free PMC Article
  5. Dysregulation of cystathionine γ-lyase promotes prostate cancer progression and metastasis. Wang YH, et al. EMBO Rep, 2019 Oct 4. PMID 31468690, Free PMC Article

See all (111) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identifying CTH and MAP1LC3B as ferroptosis biomarkers for prognostic indication in gastric cancer decoding.
    Title: Identifying CTH and MAP1LC3B as ferroptosis biomarkers for prognostic indication in gastric cancer decoding.
  2. [Exploration of cystathionine beta-synthase and cystathionine gamma-lyase gene expression poor prognostic predictive value with the application of bioinformatics data mining in liver cancer].
    Title: [Exploration of cystathionine β-synthase and cystathionine γ-lyase gene expression poor prognostic predictive value with the application of bioinformatics data mining in liver cancer].
  3. Hypoxia increases persulfide and polysulfide formation by AMP kinase dependent cystathionine gamma lyase phosphorylation.
    Title: Hypoxia increases persulfide and polysulfide formation by AMP kinase dependent cystathionine gamma lyase phosphorylation.
  4. Disrupted Binding of Cystathionine gamma-Lyase to p53 Promotes Endothelial Senescence.
    Title: Disrupted Binding of Cystathionine γ-Lyase to p53 Promotes Endothelial Senescence.
  5. Cystathionine gamma-lyase (CTH) inhibition attenuates glioblastoma formation.
    Title: Cystathionine gamma-lyase (CTH) inhibition attenuates glioblastoma formation.
  6. KRAS G12D mutation eliminates reactive oxygen species through the Nrf2/CSE/H 2S axis and contributes to pancreatic cancer growth.
    Title: KRAS G12D mutation eliminates reactive oxygen species through the Nrf2/CSE/H (2)S axis and contributes to pancreatic cancer growth.
  7. Cystathionine gamma-lyase mediates cell proliferation, migration, and invasion of nasopharyngeal carcinoma.
    Title: Cystathionine γ-lyase mediates cell proliferation, migration, and invasion of nasopharyngeal carcinoma.
  8. A novel cystathionine gamma-lyase inhibitor, I194496, inhibits the growth and metastasis of human TNBC via downregulating multiple signaling pathways.
    Title: A novel cystathionine γ-lyase inhibitor, I194496, inhibits the growth and metastasis of human TNBC via downregulating multiple signaling pathways.
  9. Hydrogen sulfide improves oxLDLinduced expression levels of LpPLA2 in THP1 monocytes via the p38MAPK pathway.
    Title: Hydrogen sulfide improves ox‑LDL‑induced expression levels of Lp‑PLA(2) in THP‑1 monocytes via the p38MAPK pathway.
  10. Association between an indel polymorphism within CTH and the risk of sudden cardiac death in a Chinese population.
    Title: Association between an indel polymorphism within CTH and the risk of sudden cardiac death in a Chinese population.
Submit: New GeneRIF Correction See all GeneRIFs (76)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Cystathioninuria
MedGen: C0220993 OMIM: 219500 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC9471

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-cysteine desulfhydrase activity IEA
Inferred from Electronic Annotation
more info
  
enables L-cystine L-cysteine-lyase (deaminating) IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
  
enables cystathionine gamma-lyase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cystathionine gamma-lyase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables homocysteine desulfhydrase activity IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables pyridoxal phosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables selenocystathionine gamma-lyase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
  
involved_in cysteine biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cysteine biosynthetic process via cystathionine IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cysteine biosynthetic process via cystathionine IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cysteine metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in endoplasmic reticulum unfolded protein response TAS
Traceable Author Statement
more info
 PubMed 
involved_in hydrogen sulfide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in hydrogen sulfide biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of aortic smooth muscle cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of canonical NF-kappaB signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in protein homotetramerization IPI
Inferred from Physical Interaction
more info
 PubMed 
involved_in protein sulfhydration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in transsulfuration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transsulfuration IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
cystathionine gamma-lyase
Names
cystathionase (cystathionine gamma-lyase)
cysteine desulfhydrase
cysteine-protein sulfhydrase
gamma-cystathionase
homocysteine desulfhydrase
homoserine deaminase
homoserine dehydratase
NP_001177392.1
NP_001893.2
NP_714964.2
XP_016855905.1
XP_054190611.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008041.1 RefSeqGene

    Range
    4997..33580
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190463.2 → NP_001177392.1  cystathionine gamma-lyase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1, resulting in a shorter isoform (3).
    Source sequence(s)
    AK303946, AL354872, BC015807
    Consensus CDS
    CCDS53333.1
    UniProtKB/Swiss-Prot
    P32929
    Related
    ENSP00000413407.2, ENST00000411986.6
    Conserved Domains (2) summary
    PRK09028
    Location:19 → 347
    PRK09028; cystathionine beta-lyase; Provisional
    pfam01053
    Location:19 → 347
    Cys_Met_Meta_PP; Cys/Met metabolizm PLP-dependent enzyme

  2. NM_001902.6 → NP_001893.2  cystathionine gamma-lyase isoform 1

    See identical proteins and their annotated locations for NP_001893.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1) of this protein.
    Source sequence(s)
    AL354872, BC015807, DB466459
    Consensus CDS
    CCDS650.1
    UniProtKB/Swiss-Prot
    B4E1R2, E9PDV0, P32929, Q53FB3, Q53Y79, Q9H4W7, Q9H4W8
    Related
    ENSP00000359976.3, ENST00000370938.8
    Conserved Domains (1) summary
    pfam01053
    Location:19 → 379
    Cys_Met_Meta_PP; Cys/Met metabolism PLP-dependent enzyme

  3. NM_153742.5 → NP_714964.2  cystathionine gamma-lyase isoform 2

    See identical proteins and their annotated locations for NP_714964.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1, resulting in a shorter isoform (2).
    Source sequence(s)
    AL354872, BC015807, DB466459, S52028
    Consensus CDS
    CCDS651.1
    UniProtKB/Swiss-Prot
    P32929
    Related
    ENSP00000311554.2, ENST00000346806.2
    Conserved Domains (2) summary
    PRK09028
    Location:19 → 335
    PRK09028; cystathionine beta-lyase; Provisional
    pfam01053
    Location:19 → 335
    Cys_Met_Meta_PP; Cys/Met metabolizm PLP-dependent enzyme

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    70411268..70439851
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000416.3 → XP_016855905.1  cystathionine gamma-lyase isoform X1

    Conserved Domains (1) summary
    cl18945
    Location:1 → 189
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    70289775..70318361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334636.1 → XP_054190611.1  cystathionine gamma-lyase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P32929.3 GenPept UniProtKB/Swiss-Prot:P32929

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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