InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Cbs

Summary

InnateDB Gene

IDBG-164615.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Cbs

Gene Name

cystathionine beta-synthase

Synonyms

AI047524; AI303044; HIP4

Species

Mus musculus

Ensembl Gene

ENSMUSG00000024039

Encoded Proteins

IDBP-164617

cystathionine beta-synthase

IDBP-164619

cystathionine beta-synthase

IDBP-401215

cystathionine beta-synthase

IDBP-537914

cystathionine beta-synthase

IDBP-532208

cystathionine beta-synthase

IDBP-539542

cystathionine beta-synthase

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000160200:
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 17:31612623-31637199

Strand

Reverse strand

Band

Transcripts

ENSMUST00000078509	ENSMUSP00000077597
ENSMUST00000067801	ENSMUSP00000066878
ENSMUST00000118504	ENSMUSP00000113209
ENSMUST00000151597
ENSMUST00000128351
ENSMUST00000143982
ENSMUST00000155814	ENSMUSP00000118472
ENSMUST00000135425	ENSMUSP00000118785
ENSMUST00000151718	ENSMUSP00000117454

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004122	cystathionine beta-synthase activity
GO:0020037	heme binding
GO:0030170	pyridoxal phosphate binding
GO:0030554	adenyl nucleotide binding
GO:0031625	ubiquitin protein ligase binding
GO:0042803	protein homodimerization activity
GO:0046872	metal ion binding
GO:0072341	modified amino acid binding

Biological Process

GO:0001958	endochondral ossification
GO:0001974	blood vessel remodeling
GO:0006535	cysteine biosynthetic process from serine
GO:0006565	L-serine catabolic process
GO:0006801	superoxide metabolic process
GO:0019343	cysteine biosynthetic process via cystathionine
GO:0019344	cysteine biosynthetic process
GO:0019346	transsulfuration
GO:0019448	L-cysteine catabolic process
GO:0021587	cerebellum morphogenesis
GO:0030823	regulation of cGMP metabolic process
GO:0031667	response to nutrient levels
GO:0043066	negative regulation of apoptotic process
GO:0043418	homocysteine catabolic process
GO:0043506	regulation of JUN kinase activity
GO:0050667	homocysteine metabolic process
GO:0050880	regulation of blood vessel size
GO:0051593	response to folic acid
GO:0060135	maternal process involved in female pregnancy
GO:0060351	cartilage development involved in endochondral bone morphogenesis
GO:0070814	hydrogen sulfide biosynthetic process
GO:0071456	cellular response to hypoxia