Format

Send to:

Choose Destination

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

Gene ID: 1491, updated on 5-Aug-2018

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; 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
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

Genomic context

See CTH in Genome Data Viewer
Location:
1p31.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (70411218..70441949)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (70876901..70905534)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 13C Neighboring gene uncharacterized LOC102724548 Neighboring gene HERV-H LTR-associating 3 Neighboring gene uncharacterized LOC105378793 Neighboring gene cysteine and histidine rich domain containing 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cystathioninuria
MedGen: C0220993 OMIM: 219500 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9471

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
cystathionine gamma-lyase
Names
cystathionase (cystathionine gamma-lyase)
cysteine desulfhydrase
cysteine-protein sulfhydrase
gamma-cystathionase
homoserine deaminase
homoserine dehydratase
NP_001177392.1
NP_001893.2
NP_714964.2
XP_005270566.1
XP_016855905.1

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

  1. NG_008041.1 RefSeqGene

    Range
    4947..33580
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190463.1NP_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/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_001902.5NP_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
    P32929
    Related
    ENSP00000359976.3, OTTHUMP00000010945, ENST00000370938.7, OTTHUMT00000025918
    Conserved Domains (1) summary
    pfam01053
    Location:19379
    Cys_Met_Meta_PP; Cys/Met metabolism PLP-dependent enzyme
  3. NM_153742.4NP_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, OTTHUMP00000010946, ENST00000346806.2, OTTHUMT00000025919
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    70411218..70441949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270509.3XP_005270566.1  cystathionine gamma-lyase isoform X1

    Conserved Domains (1) summary
    cl18945
    Location:1270
    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 ...
  2. XM_017000416.2XP_016855905.1  cystathionine gamma-lyase isoform X2

    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 ...
Support Center