CTH
Cystathionine gamma-lyase
Also known as: CGL_HUMAN, CSE
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P32929
- Gene
- CTH
- Ensembl
- ENSG00000116761
- Chromosome
- 1
- Canonical length
- 405 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
405 residues, UniProt reviewed canonical sequence.
>P32929|CTH
1 MQEKDASSQG FLPHFQHFAT QAIHVGQDPE QWTSRAVVPP ISLSTTFKQG APGQHSGFEY
61 SRSGNPTRNC LEKAVAALDG AKYCLAFASG LAATVTITHL LKAGDQIICM DDVYGGTNRY
121 FRQVASEFGL KISFVDCSKI KLLEAAITPE TKLVWIETPT NPTQKVIDIE GCAHIVHKHG
181 DIILVVDNTF MSPYFQRPLA LGADISMYSA TKYMNGHSDV VMGLVSVNCE SLHNRLRFLQ
241 NSLGAVPSPI DCYLCNRGLK TLHVRMEKHF KNGMAVAQFL ESNPWVEKVI YPGLPSHPQH
301 ELVKRQCTGC TGMVTFYIKG TLQHAEIFLK NLKLFTLAES LGGFESLAEL PAIMTHASVL
361 KNDRDVLGIS DTLIRLSVGL EDEEDLLEDL DQALKAAHPP SGSHSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CTH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.23
- Highest tissue expression
- 115 nTPM
Expression across tissuesHPA
Tissue
- liver: 115 nTPM
- ovary: 28 nTPM
- pancreas: 16 nTPM
- choroid plexus: 13 nTPM
- kidney: 13 nTPM
- adrenal gland: 12 nTPM
Single-cell type
- hepatocytes: 189 nCPM
- pancreatic acinar cells: 90 nCPM
- endometrial ciliated cells: 82 nCPM
- ovarian stromal cells: 81 nCPM
- bergmann glia: 71 nCPM
- cone photoreceptor cells: 70 nCPM
Immune cell
- naive CD4 T-cell: 3.2 nTPM
- MAIT T-cell: 2.2 nTPM
- memory B-cell: 2.2 nTPM
- memory CD8 T-cell: 1.7 nTPM
- naive B-cell: 1.7 nTPM
- naive CD8 T-cell: 1.5 nTPM
Brain region
- choroid plexus: 9.6 nTPM
- hypothalamus: 7.8 nTPM
- midbrain: 7.8 nTPM
- pons: 7.4 nTPM
- cerebral cortex: 7.2 nTPM
- medulla oblongata: 7.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CTH.
Disease | AllUniProt
Conditions CTH is implicated in, by any mechanism.
- Cystathioninuria (CSTNU) MIM:219500
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 110 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cystathioninuria
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.96
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.41
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to leukemia inhibitory factor
- cysteine biosynthetic process
- cysteine biosynthetic process via cystathionine
- cysteine metabolic process
- endoplasmic reticulum unfolded protein response
- hydrogen sulfide biosynthetic process
- lipid metabolic process
- negative regulation of apoptotic signaling pathway
- positive regulation of aortic smooth muscle cell differentiation
- positive regulation of canonical NF-kappaB signal transduction
- protein homotetramerization
- transsulfuration
- protein sulfhydration
- protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine
Molecular functions
- calmodulin binding
- identical protein binding
- pyridoxal phosphate binding
- cystathionine gamma-lyase activity
- homocysteine desulfhydrase activity
- L-cysteine desulfhydrase activity
- L-cystine L-cysteine-lyase (deaminating)
- selenocystathionine gamma-lyase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Pyridoxal phosphate-dependent transferase, major domain
- Pyridoxal phosphate-dependent transferase, small domain
- Pyridoxal phosphate-dependent transferase
- Cys/Met metabolism, pyridoxal phosphate-dependent enzyme
- Cys/Met metabolism enzyme, pyridoxal-phosphate attachment site
- Cys/Met metabolism PLP-dependent enzyme
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CTH in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
- CALM
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CTH as an antibody target. Whether an autoantibody or antibody against CTH could matter depends on whether native CTH is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CTH is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CTH as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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