Cbs - cystathionine beta-synthase Gene

Also Known as HIP4

Species: Mus musculus

Gene Type: protein coding
Gene ID: 12411

Summary

Enables cystathionine beta-synthase activity. Acts upstream of or within several processes, including alpha-amino acid metabolic process; endochondral bone morphogenesis; and regulation of JUN kinase activity. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; connective tissue; nervous system; sensory organ; and skeleton. Used to study homocystinuria. Human ortholog(s) of this gene implicated in coronary artery disease; homocystinuria; hyperhomocysteinemia; malaria; and neural tube defect. Orthologous to human CBS (cystathionine beta-synthase). [provided by Alliance of Genome Resources, Apr 2022]

Cbs Products (10)

mRNA Protein Name
NM_001271353.2 NP_001258282.1 cystathionine beta-synthase isoform 2
NM_001410012.1 NP_001396941.1 cystathionine beta-synthase isoform 1
NM_001410013.1 NP_001396942.1 cystathionine beta-synthase isoform 3
NM_144855.4 NP_659104.1 cystathionine beta-synthase isoform 1
NM_178224.4 NP_835742.1 cystathionine beta-synthase isoform 2
NM_001271353.2 NP_001258282.1 cystathionine beta-synthase isoform 2
NM_001410012.1 NP_001396941.1 cystathionine beta-synthase isoform 1
NM_001410013.1 NP_001396942.1 cystathionine beta-synthase isoform 3
NM_144855.4 NP_659104.1 cystathionine beta-synthase isoform 1
NM_178224.4 NP_835742.1 cystathionine beta-synthase isoform 2
Molecular Function GO Annotation Evidence Références Source
enables cystathionine beta-synthase activity IMP
IMP: Inferred from mutant phenotype
7878023 MGI
Biological Process GO Annotation Evidence Références Source
acts upstream of or within blood vessel diameter maintenance IMP
IMP: Inferred from mutant phenotype
10953023 MGI
acts upstream of or within blood vessel remodeling IMP
IMP: Inferred from mutant phenotype
12433838 MGI
acts upstream of or within cartilage development involved in endochondral bone morphogenesis IMP
IMP: Inferred from mutant phenotype
15622513 MGI
acts upstream of or within cerebellum morphogenesis IMP
IMP: Inferred from mutant phenotype
16160063 MGI
acts upstream of or within cysteine biosynthetic process IMP
IMP: Inferred from mutant phenotype
15030387 MGI
acts upstream of or within endochondral ossification IMP
IMP: Inferred from mutant phenotype
15622513 MGI
acts upstream of or within homocysteine metabolic process IMP
IMP: Inferred from mutant phenotype
7878023 MGI
acts upstream of or within maternal process involved in female pregnancy IMP
IMP: Inferred from mutant phenotype
16984962 MGI
acts upstream of or within regulation of JUN kinase activity IMP
IMP: Inferred from mutant phenotype
15030387 MGI
acts upstream of or within regulation of nitric oxide mediated signal transduction IMP
IMP: Inferred from mutant phenotype
10953023 MGI
acts upstream of or within response to folic acid IMP
IMP: Inferred from mutant phenotype
10993757 MGI
acts upstream of or within superoxide metabolic process IMP
IMP: Inferred from mutant phenotype
10953023 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

cystathionine beta-synthase

  • beta-thionase

  • serine sulfhydrase

Orthologs Information

Species Symbol Source ID
Homo sapiens Cbs NCBI NCBI:875