CBS

Entrez 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. 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.
UniProt Summary: 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}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics 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

Expression Distribution

Screen	Score
Tubacin 1.6μM R07 exp416	-1.91
SB743921 0.001μM R05 exp244	-1.8

CBS
PALP

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