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

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Summary

Official Symbol: CTHprovided by HGNC
Official Full Name: cystathionase (cystathionine gamma-lyase)provided by HGNC
Primary source: HGNC:2501
See related: Ensembl:ENSG00000116761; HPRD:09633; MIM:607657; Vega:OTTHUMG00000009352
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: MGC9471
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]

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Genomic context

Location :: 1p31.1

Sequence :: Chromosome: 1; NC_000001.10 (70876901..70905534)

See CTH in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

CTH is present in prostatic tissues and both normal and malignant prostate cell lines, including stromal compartments and the stromal cell line WPMY-1. It is downregulated by dihydrotestosterone.
Title: Characterization of hydrogen sulfide and its synthases, cystathionine β-synthase and cystathionine γ-lyase, in human prostatic tissue and cells.
H(2)S generated by CSE and CBS locally exerts dual effects on the contractility of pregnant myometrium
Title: Expression of cystathionine β-synthase and cystathionine γ-lyase in human pregnant myometrium and their roles in the control of uterine contractility.
transcript factor Sp1 is a critical regulator of the hCSE expression during SMC differentiation, and CSE/H(2)S system is essential for maintenance of SMC phenotype.
Title: Specificity protein-1 as a critical regulator of human cystathionine gamma-lyase in smooth muscle cells.
The investigations could aim at verifying whether the stimulation of CST, at the level of protein or gene expression, could change the proliferation of neoplastic cells.
Title: The expression and activity of cystathionine-γ-lyase and 3-mercaptopyruvate sulfurtransferase in human neoplastic cell lines.
the CTH p.T67I substitution could have an ancient common origin, which probably occurred in the Neolithic Era and spread throughout Europe.
Title: Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria.
The increased expression of cystathionine-gamma-lyase(CSE)/H2S pathway might be involved in the pathogenesis of viral myocarditis.
Title: [Expression of cystathionine-γ-lyase/hydrogen sulfide pathway in CVB3-induced myocarditis in mice].
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Cystathionine beta-synthase 844Ins68 polymorphism is not associated with the levels of homocysteine and cysteine in an Indian population
Title: Cystathionine beta-synthase 844Ins68 polymorphism is not associated with the levels of homocysteine and cysteine in an Indian population.
Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
Title: Integrative predictive model of coronary artery calcification in atherosclerosis.
no evidence that severe loss of CTH activity due to the mutations is accompanied by adverse clinical effects
Title: Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.

Submit: New GeneRIF Correction See all (23)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Homocysteine, total plasma, elevated

MIM: 607657

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Products	Interactant	Other Gene	Source	Pubs	Description
P32929	P32929	CTH	HPRD	PubMed
BioGRID:107873	BioGRID:107873	CTH	BioGRID	PubMed	Two-hybrid
BioGRID:107873	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex

Function	Evidence Code	Pubs
L-cysteine desulfhydrase activity	TAS Traceable Author Statement more info
calmodulin binding	IEA Inferred from Electronic Annotation more info
carbon-sulfur lyase activity	TAS Traceable Author Statement more info
cystathionine beta-lyase activity	IEA Inferred from Electronic Annotation more info
cystathionine gamma-lyase activity	IDA Inferred from Direct Assay more info	PubMed
cystathionine gamma-lyase activity	TAS Traceable Author Statement more info
homocysteine desulfhydrase activity	TAS Traceable Author Statement more info
pyridoxal phosphate binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
cellular amino acid biosynthetic process	IEA Inferred from Electronic Annotation more info
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
cysteine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
cysteine metabolic process	TAS Traceable Author Statement more info	PubMed
glutathione metabolic process	IEA Inferred from Electronic Annotation more info
hydrogen sulfide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell growth	IEA Inferred from Electronic Annotation more info
negative regulation of cell proliferation	IEA Inferred from Electronic Annotation more info
protein homotetramerization	IPI Inferred from Physical Interaction more info	PubMed
protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	IDA Inferred from Direct Assay more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
sulfur amino acid catabolic process	TAS Traceable Author Statement more info
sulfur amino acid metabolic process	TAS Traceable Author Statement more info
transsulfuration	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: cystathionine gamma-lyase

Names: cystathionine gamma-lyase; gamma-cystathionase; homoserine deaminase; cysteine desulfhydrase; homoserine dehydratase; cysteine-protein sulfhydrase

NP_001177392.1

EC 4.4.1.1

NP_001893.2

EC 4.4.1.1

NP_714964.2

EC 4.4.1.1

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NCBI Reference Sequences (RefSeq)

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

4947..33580

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001190463.1 → 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, DB466459

Consensus CDS

CCDS53333.1

UniProtKB/TrEMBL

B4E1R2

UniProtKB/TrEMBL

E9PDV0

UniProtKB/Swiss-Prot

P32929

Related

ENSP00000413407, ENST00000411986

Conserved Domains (2) summary

cd00614
Location:36 – 363
Blast Score: 1243

CGS_like; CGS_like: Cystathionine gamma-synthase is a PLP dependent enzyme and catalyzes the committed step of methionine biosynthesis. This pathway is unique to microorganisms and plants, rendering the enzyme an attractive target for the development of ...

pfam01053
Location:19 – 363
Blast Score: 1311

Cys_Met_Meta_PP; Cys/Met metabolism PLP-dependent enzyme
NM_001902.5 → NP_001893.2 cystathionine gamma-lyase isoform 1

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

P32929

Related

ENSP00000359976, OTTHUMP00000010945, ENST00000370938, OTTHUMT00000025918

Conserved Domains (2) summary

cd00614
Location:36 – 395
Blast Score: 1403

CGS_like; CGS_like: Cystathionine gamma-synthase is a PLP dependent enzyme and catalyzes the committed step of methionine biosynthesis. This pathway is unique to microorganisms and plants, rendering the enzyme an attractive target for the development of ...

pfam01053
Location:19 – 395
Blast Score: 1483

Cys_Met_Meta_PP; Cys/Met metabolism PLP-dependent enzyme
NM_153742.4 → NP_714964.2 cystathionine gamma-lyase isoform 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, OTTHUMP00000010946, ENST00000346806, OTTHUMT00000025919

Conserved Domains (2) summary

cd00614
Location:36 – 351
Blast Score: 1137

CGS_like; CGS_like: Cystathionine gamma-synthase is a PLP dependent enzyme and catalyzes the committed step of methionine biosynthesis. This pathway is unique to microorganisms and plants, rendering the enzyme an attractive target for the development of ...

pfam01053
Location:19 – 351
Blast Score: 1218

Cys_Met_Meta_PP; Cys/Met metabolism PLP-dependent enzyme

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

70876901..70905534

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

68987754..69016606

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL354872.9	CAC12901.1
		CAC12902.1
genomic	CH471059.2	EAX06450.1
		EAX06451.1
mRNA	AK223376.1	BAD97096.1
mRNA	AK303946.1	BAG64874.1
mRNA	AK310269.1	None
mRNA	BC015807.2	AAH15807.1
mRNA	BT006882.1	AAP35528.1
mRNA	DB466459.1	None
mRNA	S52028.1	AAB24699.1
mRNA	S52784.1	AAB24700.1
other-genetic	EU832313.1	ACE87570.1
other-genetic	EU832398.1	ACE86883.1