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Details on Person UniProt:P35520 CBS

Class:IdReferenceGeneProduct:51512
_chainChangeLoginitiator methionine:1 added on Sat February 7 2015;chain:2-551 added on Sat February 7 2015
_displayNameUniProt:P35520 CBS
_timestamp2025-02-21 19:57:05
chainchain:1-551
checksumF89E69C67BDE6701
commentFUNCTION 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.
descriptionrecommendedName: fullName evidence="48"Cystathionine beta-synthase ecNumber evidence="24 28 29 30"4.2.1.22 alternativeName: Beta-thionase alternativeName: Serine sulfhydrase
geneNameCBS
identifierP35520
isSequenceChangedFALSE
keyword3D-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
nameCBS
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8998199] ENSEMBL:ENSG00000160200 CBS [Homo sapiens]
secondaryIdentifierCBS_HUMAN
B2R993
D3DSK4
Q99425
Q9BWC5
sequenceLength551
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)