CBS [The Human Chemical-Genetic Interaction Map Project]

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======= CBS =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CBS
  * **<color #00a2e8>Official Name</color>**: cystathionine beta-synthase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=875|875]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P35520|P35520]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CBS&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CBS|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613381|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]. COMPLETENESS: complete on the 3' end. 
  * **<color #00a2e8>UniProt Summary</color>**:  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:23981774, PubMed:20506325, PubMed:23974653). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity). {ECO:0000250|UniProtKB:P32232, ECO:0000269|PubMed:20506325, ECO:0000269|PubMed:23974653, ECO:0000269|PubMed:23981774}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|CBS|
|PALP|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|nitrite reductase (NO-forming) activity|
|carbon monoxide binding|
|cystathionine beta-synthase activity|
|cysteine biosynthetic process from serine|
|cysteine synthase activity|
|nitric oxide binding|
|homocysteine catabolic process|
|cysteine biosynthetic process via cystathionine|
|cysteine catabolic process|
|hydrogen sulfide biosynthetic process|
|L-cysteine catabolic process|
|cysteine biosynthetic process|
|L-cysteine metabolic process|
|DNA protection|
|toxin biosynthetic process|
|L-serine catabolic process|
|transsulfuration|
|homoserine metabolic process|
|hydrogen sulfide metabolic process|
|modified amino acid binding|
|S-adenosyl-L-methionine binding|
|cysteine metabolic process|
|L-serine metabolic process|
|homocysteine metabolic process|
|serine family amino acid catabolic process|
|sulfur amino acid catabolic process|
|serine family amino acid biosynthetic process|
|sulfur amino acid biosynthetic process|
|secondary metabolite biosynthetic process|
|toxin metabolic process|
|oxygen binding|
|sulfur amino acid metabolic process|
|serine family amino acid metabolic process|
|pyridoxal phosphate binding|
|secondary metabolic process|
|sulfur compound catabolic process|
|alpha-amino acid biosynthetic process|
|cellular amino acid biosynthetic process|
|alpha-amino acid catabolic process|
|cellular amino acid catabolic process|
|heme binding|
|sulfur compound biosynthetic process|
|alpha-amino acid metabolic process|
|cellular response to extracellular stimulus|
|organic acid catabolic process|
|carboxylic acid catabolic process|
|ubiquitin protein ligase binding|
|carboxylic acid biosynthetic process|
|organic acid biosynthetic process|
|cellular amino acid metabolic process|
|cellular response to external stimulus|
|enzyme binding|
|sulfur compound metabolic process|
|small molecule catabolic process|
|drug metabolic process|
|response to extracellular stimulus|
|small molecule biosynthetic process|
|DNA metabolic process|
|protein homodimerization activity|
|carboxylic acid metabolic process|
|oxidation-reduction process|
|oxoacid metabolic process|
|organic acid metabolic process|
|organonitrogen compound catabolic process|
|identical protein binding|
|organonitrogen compound biosynthetic process|
|cellular response to stress|
|small molecule metabolic process|
|organic substance catabolic process|
|cellular catabolic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp416|Tubacin 1.6μM R07 exp416]]|-1.91|
|[[:results:exp244|SB743921 0.001μM R05 exp244]]|-1.8|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 8846
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.4 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CBS Expression in NALM6 Cells: 5.4'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>