MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP000433

UniProt Annotations

Entry Information
Gene Namecystathionine-beta-synthase
Protein EntryCBS_HUMAN
UniProt IDP35520
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Major; IsoId=P35520-1; Sequence=Displayed; Name=2; Synonyms=Minor; IsoId=P35520-2; Sequence=VSP_001217;
Catalytic ActivityL-serine + L-homocysteine = L-cystathionine + H(2)O.
CofactorName=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
DiseaseCystathionine beta-synthase deficiency (CBSD) [MIM:236200]: An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. {ECO:0000269|PubMed:10215408, ECO:0000269|PubMed:10408774, ECO:0000269|PubMed:10462600, ECO:0000269|PubMed:11013450, ECO:0000269|PubMed:11359213, ECO:0000269|PubMed:11553052, ECO:0000269|PubMed:12007221, ECO:0000269|PubMed:12124992, ECO:0000269|PubMed:12815602, ECO:0000269|PubMed:1301198, ECO:0000269|PubMed:14635102, ECO:0000269|PubMed:15146473, ECO:0000269|PubMed:15365998, ECO:0000269|PubMed:15993874, ECO:0000269|PubMed:16205833, ECO:0000269|PubMed:21240075, ECO:0000269|PubMed:21520339, ECO:0000269|PubMed:7506602, ECO:0000269|PubMed:7564249, ECO:0000269|PubMed:7611293, ECO:0000269|PubMed:7635485, ECO:0000269|PubMed:7762555, ECO:0000269|PubMed:7849717, ECO:0000269|PubMed:7967489, ECO:0000269|PubMed:7981678, ECO:0000269|PubMed:8353501, ECO:0000269|PubMed:8528202, ECO:0000269|PubMed:8755636, ECO:0000269|PubMed:8803779, ECO:0000269|PubMed:8990018, ECO:0000269|PubMed:9156316, ECO:0000269|PubMed:9266356, ECO:0000269|PubMed:9361025, ECO:0000269|PubMed:9889017}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationAllosterically activated by adenosyl-methionine (AdoMet).
FunctionOnly known pyridoxal phosphate-dependent enzyme that contains heme. Important regulator of hydrogen sulfide, especially in the brain, utilizing cysteine instead of serine to catalyze the formation of hydrogen sulfide. Hydrogen sulfide is a gastratransmitter with signaling and cytoprotective effects such as acting as a neuromodulator in the brain to protect neurons against hypoxic injury (By similarity). {ECO:0000250}.
InteractionSelf; NbExp=3; IntAct=EBI-740135, EBI-740135;
PathwayAmino-acid biosynthesis; L-cysteine biosynthesis; L- cysteine from L-homocysteine and L-serine: step 1/2.
SimilarityBelongs to the cysteine synthase/cystathionine beta- synthase family. {ECO:0000305}.
SimilarityContains 1 CBS domain. {ECO:0000255|PROSITE- ProRule:PRU00703}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:17087506}. Nucleus {ECO:0000269|PubMed:17087506}.
SubunitHomotetramer. {ECO:0000269|PubMed:11483494, ECO:0000269|PubMed:12173932}.
Tissue SpecificityIn the adult strongly expressed in liver and pancreas, some expression in heart and brain, weak expression in lung and kidney. In the fetus, expressed in brain, liver and kidney.
Web ResourceName=CBS mutation database; URL="http://cbs.lf1.cuni.cz/index.php";
  logo