MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP000433

Record overview

MGPD IDMGP000433
Gene ID875
SpeciesHomo sapiens (Human)
Gene Namecystathionine-beta-synthase
Gene Symbol CBS
SynonymsHIP4;
Alternate namescystathionine beta-synthase; beta-thionase; serine sulfhydrase; methylcysteine synthase;
Chromosome21
Map Location21q22.3
EC Number4.2.1.22
SummaryThe 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]
OrthologsView orthologs and multiple alignments for CBS

Proteins

cystathionine beta-synthase
Refseq ID:NP_001171479
Protein GI:295821200
UniProt ID:P35520
mRNA ID:NM_001178008
Length:551
RefSeq Status:
MPSETPQAEVGPTGCPHRSGPHSAKGSLEKGSPEDKEAKEPLWIRPDAPSRCTWQLGRPASESPHHHTAPAKSPKILPDILKKIGDTPMVRINKIGKKFG
LKCELLAKCEFFNAGGSVKDRISLRMIEDAERDGTLKPGDTIIEPTSGNTGIGLALAAAVRGYRCIIVMPEKMSSEKVDVLRALGAEIVRTPTNARFDSP
ESHVGVAWRLKNEIPNSHILDQYRNASNPLAHYDTTADEILQQCDGKLDMLVASVGTGGTITGIARKLKEKCPGCRIIGVDPEGSILAEPEELNQTEQTT
YEVEGIGYDFIPTVLDRTVVDKWFKSNDEEAFTFARMLIAQEGLLCGGSAGSTVAVAVKAAQELQEGQRCVVILPDSVRNYMTKFLSDRWMLQKGFLKEE
DLTEKKPWWWHLRVQELGLSAPLTVLPTITCGHTIEILREKGFDQAPVVDEAGVILGMVTLGNMLSSLLAGKVQPSDQVGKVIYKQFKQIRLTDTLGRLS
HILEMDHFALVVHEQIQYHSTGKSSQRQMVFGVVTAIDLLNFVAAQERDQK
 
cystathionine beta-synthase
Refseq ID:NP_000062
Protein GI:4557415
UniProt ID:P35520
mRNA ID:NM_000071
Length:551
RefSeq Status:
Protein sequence is identical to GI:295821200 (mRNA isoform)
 
cystathionine beta-synthase
Refseq ID:NP_001171480
Protein GI:295821202
UniProt ID:P35520
mRNA ID:NM_001178009
Length:551
RefSeq Status:
Protein sequence is identical to GI:295821200 (mRNA isoform)
 
  logo