Version 5.4
Homo sapiens Gene: CBS
Summary
InnateDB Gene IDBG-4623.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CBS
Gene Name cystathionine-beta-synthase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000160200
Encoded Proteins
IDBP-4625
cystathionine-beta-synthase
IDBP-4627
cystathionine-beta-synthase
IDBP-233696
cystathionine-beta-synthase
IDBP-233698
cystathionine-beta-synthase
IDBP-233700
cystathionine-beta-synthase
IDBP-369093
cystathionine-beta-synthase
IDBP-369097
cystathionine-beta-synthase
IDBP-369098
cystathionine-beta-synthase
IDBP-369100
cystathionine-beta-synthase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:43053191-43076943
Strand Reverse strand
Band q22.3
Transcripts
ENST00000352178 ENSP00000344460
ENST00000359624 ENSP00000352643
ENST00000398168 ENSP00000381234
ENST00000398165 ENSP00000381231
ENST00000398158 ENSP00000381225
ENST00000451248 ENSP00000402823
ENST00000458223 ENSP00000408014
ENST00000430013 ENSP00000405929
ENST00000441030 ENSP00000388235
ENST00000461686
ENST00000462349
ENST00000491776
ENST00000496485
ENST00000486098
ENST00000470912
ENST00000465732
ENST00000488526
ENST00000478709
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.
Experimentally validated
Total 46 [view]
Protein-Protein 43 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004122 cystathionine beta-synthase activity
GO:0005515 protein binding
GO:0019899 enzyme binding
GO:0020037 heme binding
GO:0030170 pyridoxal phosphate binding
GO:0030554 adenyl nucleotide binding
GO:0031625 ubiquitin protein ligase binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0072341 modified amino acid binding
Biological Process
GO:0000096 sulfur amino acid metabolic process
GO:0006535 cysteine biosynthetic process from serine
GO:0006563 L-serine metabolic process
GO:0006565 L-serine catabolic process
GO:0019343 cysteine biosynthetic process via cystathionine
GO:0019346 transsulfuration
GO:0019448 L-cysteine catabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0043418 homocysteine catabolic process
GO:0044281 small molecule metabolic process
GO:0050667 homocysteine metabolic process
GO:0070814 hydrogen sulfide biosynthetic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000024039
View Gene Order
ENSBTAG00000000160
Not yet available
Pathways
NETPATH
REACTOME
REACT_115589
Cysteine formation from homocysteine pathway
REACT_115639
Sulfur amino acid metabolism pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00260
Glycine, serine and threonine metabolism pathway
hsa00270
Cysteine and methionine metabolism pathway
INOH
INOH website
Methionine Cysteine metabolism pathway
INOH website
Glycine Serine metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.533013 Hs.606575
RefSeq NM_000071 NM_001178008 NM_001178009 XM_006724057 XM_006723926
HUGO
OMIM
CCDS CCDS13693
HPRD 01994
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca