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Details on Person UniProt:P35520 CBS
| Class:Id | ReferenceGeneProduct:51512 |
|---|---|
| _chainChangeLog | initiator methionine:1 added on Sat February 7 2015;chain:2-551 added on Sat February 7 2015 |
| _displayName | UniProt:P35520 CBS |
| _timestamp | 2025-02-21 19:57:05 |
| chain | chain:1-551 |
| checksum | F89E69C67BDE6701 |
| comment | FUNCTION Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:20506325, PubMed:23974653, PubMed:23981774). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity).CATALYTIC ACTIVITY L-homocysteine + L-serine = L,L-cystathionine + H2OCOFACTOR Allosterically activated by S-adenosyl-methionine/AdoMet. Activated by S-adenosylhomocysteine/AdoHcy (PubMed:20506325). Binds non-covalently to a heme group that may control the redox sensitivity of the enzyme (PubMed:11483494, PubMed:12173932, PubMed:22738154).PATHWAY Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 1/2.SUBUNIT Homotetramer.INTERACTION In 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the cysteine synthase/cystathionine beta-synthase family. |
| description | recommendedName: fullName evidence="48"Cystathionine beta-synthase ecNumber evidence="24 28 29 30"4.2.1.22 alternativeName: Beta-thionase alternativeName: Serine sulfhydrase |
| geneName | CBS |
| identifier | P35520 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Allosteric enzyme Alternative splicing Amino-acid biosynthesis CBS domain Cysteine biosynthesis Cytoplasm Disease variant Heme Iron Isopeptide bond Lyase Metal-binding Nucleus Phosphoprotein Proteomics identification Pyridoxal phosphate Reference proteome Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | CBS |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8998199] ENSEMBL:ENSG00000160200 CBS [Homo sapiens] |
| secondaryIdentifier | CBS_HUMAN B2R993 D3DSK4 Q99425 Q9BWC5 |
| sequenceLength | 551 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:145015] UniProt:P35520-2 CBS [Homo sapiens] [ReferenceIsoform:403828] UniProt:P35520-1 CBS [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:1614563] PXLP-K119-CBS [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:4655401] monoSUMO1-K211-PXLP-CBS [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:4655441] PXLP-CBS [nucleoplasm] [Homo sapiens] |
| (referenceSequence) | [ModifiedResidue:1614625] N6-pyridoxal phosphate-L-lysine at 119 [GroupModifiedResidue:4655325] sumoylated lysine (monoSUMO1 [nucleoplasm]) at 211 |
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No pathways have been reviewed or authored by UniProt:P35520 CBS (51512)
