CTH
entrez
1491
canonical
uniprot
P32929
canonical
ensembl
ENSG00000116761
resolver
ensp
ENSP00000311554
resolver
ensp
ENSP00000359976
resolver
ensp
ENSP00000413407
resolver
genesymbol
CTH
resolver
hgnc
HGNC:2501
resolver
uniprot
B4E1R2
resolver
uniprot
E9PDV0
resolver
uniprot
Q53FB3
resolver
uniprot
Q53Y79
resolver
uniprot
Q9H4W7
resolver
uniprot
Q9H4W8
resolver
uniprot_entry
CGL_HUMAN
resolver
uniprot_sec
B4E1R2
resolver
uniprot_sec
E9PDV0
resolver
uniprot_sec
Q53FB3
resolver
uniprot_sec
Q53Y79
resolver
uniprot_sec
Q9H4W7
resolver
uniprot_sec
Q9H4W8
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by propargylglycine, trifluoroalanine and aminoethoxyvinylglycine. {ECO:0000269|PubMed:10212249, ECO:0000269|PubMed:19019829}.
uniprot
proteins
amino_acid_sequence
MQEKDASSQGFLPHFQHFATQAIHVGQDPEQWTSRAVVPPISLSTTFKQGAPGQHSGFEYSRSGNPTRNCLEKAVAALDGAKYCLAFASGLAATVTITHLLKAGDQIICMDDVYGGTNRYFRQVASEFGLKISFVDCSKIKLLEAAITPETKLVWIETPTNPTQKVIDIEGCAHIVHKHGDIILVVDNTFMSPYFQRPLALGADISMYSATKYMNGHSDVVMGLVSVNCESLHNRLRFLQNSLGAVPSPIDCYLCNRGLKTLHVRMEKHFKNGMAVAQFLESNPWVEKVIYPGLPSHPQHELVKRQCTGCTGMVTFYIKGTLQHAEIFLKNLKLFTLAESLGGFESLAELPAIMTHASVLKNDRDVLGISDTLIRLSVGLEDEEDLLEDLDQALKAAHPPSGSHS
uniprot
proteins
disease_involvement
DISEASE: Cystathioninuria (CSTNU) [MIM:219500]: Autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion. {ECO:0000269|PubMed:12574942, ECO:0000269|PubMed:18476726}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.4.1.1
uniprot
proteins
ec_number
4.4.1.2
uniprot
proteins
function
FUNCTION: Catalyzes the last step in the trans-sulfuration pathway from L-methionine to L-cysteine in a pyridoxal-5'-phosphate (PLP)-dependent manner, which consists on cleaving the L,L-cystathionine molecule into L-cysteine, ammonia and 2-oxobutanoate (PubMed:10212249, PubMed:18476726, PubMed:19261609, PubMed:19961860). Part of the L-cysteine derived from the trans-sulfuration pathway is utilized for biosynthesis of the ubiquitous antioxidant glutathione (PubMed:18476726). Besides its role in the conversion of L-cystathionine into L-cysteine, it utilizes L-cysteine and L-homocysteine as substrates (at much lower rates than L,L-cystathionine) to produce the endogenous gaseous signaling molecule hydrogen sulfide (H2S) (PubMed:10212249, PubMed:19019829, PubMed:19261609, PubMed:19961860). In vitro, it converts two L-cysteine molecules into lanthionine and H2S, also two L-homocysteine molecules to homolanthionine and H2S, which can be particularly relevant under conditions of severe hyperhomocysteinemia (which is a risk factor for cardiovascular disease, diabetes, and Alzheimer's disease) (PubMed:19261609). Lanthionine and homolanthionine are structural homologs of L,L-cystathionine that differ by the absence or presence of an extra methylene group, respectively (PubMed:19261609). Acts as a cysteine-protein sulfhydrase by mediating sulfhydration of target proteins: sulfhydration consists of converting -SH groups into -SSH on specific cysteine residues of target proteins such as GAPDH, PTPN1 and NF-kappa-B subunit RELA, thereby regulating their function (PubMed:22169477). By generating the gasotransmitter H2S, it participates in a number of physiological processes such as vasodilation, bone protection, and inflammation (Probable) (PubMed:29254196). Plays an essential role in myogenesis by contributing to the biogenesis of H2S in skeletal muscle tissue (By similarity). Can also accept homoserine as substrate (By similarity). Catalyzes the elimination of selenocystathionine (which can be derived from the diet) to yield selenocysteine, ammonia and 2-oxobutanoate (By similarity). {ECO:0000250|UniProtKB:P18757, ECO:0000250|UniProtKB:Q8VCN5, ECO:0000269|PubMed:10212249, ECO:0000269|PubMed:18476726, ECO:0000269|PubMed:19019829, ECO:0000269|PubMed:19261609, ECO:0000269|PubMed:19961860, ECO:0000269|PubMed:22169477, ECO:0000269|PubMed:29254196, ECO:0000303|PubMed:18476726, ECO:0000305|PubMed:18476726, ECO:0000305|PubMed:19019829}.
uniprot
proteins
mass_dalton
44508
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 2/2. {ECO:0000305|PubMed:10212249, ECO:0000305|PubMed:18476726, ECO:0000305|PubMed:19261609}.
uniprot
proteins
protein_family
Trans-sulfuration enzymes family
uniprot
proteins
pubmed
10212249
uniprot
proteins
pubmed
10727430
uniprot
proteins
pubmed
12574942
uniprot
proteins
pubmed
1339280
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18476726
uniprot
proteins
pubmed
19019829
uniprot
proteins
pubmed
19261609
uniprot
proteins
pubmed
19961860
uniprot
proteins
pubmed
20305127
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22169477
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
29254196
uniprot
proteins
sequence_length
405
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins