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

Gene ID: 1491, updated on 4-Jan-2025

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
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Genomic context

See CTH in Genome Data Viewer
Location:
1p31.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (70411268..70439851)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (70289775..70318361)
RS_2024_09 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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC9471

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-cysteine desulfhydrase activity  
enables L-cystine L-cysteine-lyase (deaminating) PubMed 
enables calmodulin binding  
enables cystathionine gamma-lyase activity  
enables cystathionine gamma-lyase activity PubMed 
enables homocysteine desulfhydrase activity  
enables identical protein binding PubMed 
enables protein binding PubMed 
enables pyridoxal phosphate binding  
enables pyridoxal phosphate binding PubMed 
enables selenocystathionine gamma-lyase activity  
Process Evidence Code Pubs
involved_in cellular response to leukemia inhibitory factor  
involved_in cysteine biosynthetic process PubMed 
involved_in cysteine biosynthetic process via cystathionine  
involved_in cysteine biosynthetic process via cystathionine PubMed 
involved_in cysteine metabolic process PubMed 
involved_in endoplasmic reticulum unfolded protein response PubMed 
involved_in hydrogen sulfide biosynthetic process PubMed 
involved_in hydrogen sulfide biosynthetic process PubMed 
involved_in lipid metabolic process  
involved_in negative regulation of apoptotic signaling pathway  
involved_in positive regulation of aortic smooth muscle cell differentiation PubMed 
involved_in positive regulation of canonical NF-kappaB signal transduction  
involved_in protein homotetramerization PubMed 
involved_in protein sulfhydration PubMed 
involved_in protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine PubMed 
involved_in transsulfuration  
involved_in transsulfuration PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytosol  
located_in extracellular exosome PubMed 

General protein information

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_001190463.2NP_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:19347
    PRK09028; cystathionine beta-lyase; Provisional
    pfam01053
    Location:19347
    Cys_Met_Meta_PP; Cys/Met metabolizm PLP-dependent enzyme
  2. NM_001902.6NP_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:19379
    Cys_Met_Meta_PP; Cys/Met metabolism PLP-dependent enzyme
  3. NM_153742.5NP_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:19335
    PRK09028; cystathionine beta-lyase; Provisional
    pfam01053
    Location:19335
    Cys_Met_Meta_PP; Cys/Met metabolizm PLP-dependent enzyme

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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_017000416.3XP_016855905.1  cystathionine gamma-lyase isoform X1

    Conserved Domains (1) summary
    cl18945
    Location:1189
    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_054334636.1XP_054190611.1  cystathionine gamma-lyase isoform X1

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