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

Summary

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
[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].
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.
Disrupted Binding of Cystathionine gamma-Lyase to p53 Promotes Endothelial Senescence.
Title: Disrupted Binding of Cystathionine γ-Lyase to p53 Promotes Endothelial Senescence.
Cystathionine gamma-lyase (CTH) inhibition attenuates glioblastoma formation.
Title: Cystathionine gamma-lyase (CTH) inhibition attenuates glioblastoma formation.
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.
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.
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.
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.
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	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S501 (e-PCR), detects polymorphism
- UniSTS:13854

RH65074 (e-PCR)
- UniSTS:91519

CTH_8288 (e-PCR)
- UniSTS:468363

D1S501 (e-PCR), detects polymorphism
- UniSTS:62128

RH66843 (e-PCR)
- UniSTS:66752

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 more info	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

EC 4.4.1.1

EC 4.4.1.2

NP_001893.2

EC 4.4.1.1

EC 4.4.1.2

NP_714964.2

EC 4.4.1.1

EC 4.4.1.2

XP_016855905.1

EC 4.4.1.1

EC 4.4.1.2

XP_054190611.1

EC 4.4.1.1

EC 4.4.1.2

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

NG_008041.1 RefSeqGene

Range

4997..33580

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

70411268..70439851

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...