CBS Domain in cystathionine beta-synthase and other proteins.
SMART ACC:	SM000116
Description:	Domain present in all 3 forms of cellular life. Present in two copies in inosine monophosphate dehydrogenase, of which one is disordered in the crystal structure [3]. A number of disease states are associated with CBS-containing proteins including homocystinuria, Becker's and Thomsen disease.
InterPro ACC:	IPR000644
InterPro abstract:	CBS domains are evolutionarily conserved structural domains found in a variety of non functionally-related proteins from all kingdoms of life. These domains pair together to form a intramolecular dimeric structure (CBS pair), termed Bateman domain [ PUBMED:10200156 PUBMED:16275737 … expand CBS domains are evolutionarily conserved structural domains found in a variety of non functionally-related proteins from all kingdoms of life. These domains pair together to form a intramolecular dimeric structure (CBS pair), termed Bateman domain [ PUBMED:10200156 PUBMED:16275737 PUBMED:24161944 PUBMED:14722609 ]. CBS domains have been shown to bind mainly ligands with an adenosyl group such as AMP, ATP and S-AdoMet, but may also bind metal ions, or nucleic acids [ PUBMED:24161944 PUBMED:14722619 ]. Hence, they play an essential role in the regulation of the activities of numerous proteins, and mutations in them are associated with several hereditary diseases [ PUBMED:29037129 PUBMED:16275737 PUBMED:14722619 ]. CBS domains are found attached to a wide range of other protein domains suggesting that CBS domains may play a regulatory role making proteins sensitive to adenosyl-carrying ligands. The region containing the CBS domains in cystathionine-beta synthase is involved in regulation by S-AdoMet [ PUBMED:11524006 ]. CBS domain pairs from AMPK bind AMP or ATP [ PUBMED:14722619 ]. The CBS domains from IMPDH, which bind ATP, have shown to have a role in the regulation of adenylate nucleotide synthesis [ PUBMED:14722619 PUBMED:19153081 ]. collapse
Family alignment:	View the Family alignment or the Alignment consensus sequence
There are 371 514 CBS domains in 203 268 proteins in SMART's NRDB database.

Taxonomic distribution of proteins containing CBS domains

The tree below includes only several representative species and genera. The complete taxonomic breakdown of all proteins containing CBS domains can be accessed here. Click the counts or percentage values to display the corresponding proteins.

Predicted cellular role

Binding / catalysis:	Unknown

Relevant references for this domain

Primary literature for the CBS domain is listed below. Automatically-derived, secondary literature is also available.

Disease genes where sequence variants are found in this domain

UniRef sequences and OMIM curated human diseases associated with missense mutations within the CBS domain.

Protein	Description	Disease / phenotype
CBSL_HUMAN		OMIM:236200 : Homocystinuria, B6-responsive and nonresponsive types

KEGG pathways involving proteins which contain this domain

This information is based on the mapping of SMART genomic protein database to KEGG orthologous groups. Percentages are related to the number of proteins containing a CBS domain which could be assigned to a KEGG orthologous group, and not all proteins containing CBS domains. Please note that proteins can be included in multiple pathways, ie. the numbers below will not add to 100%.

KEGG pathways

Some of these pathways are included in the interactive Pathways Explorer overview maps. Select an overview map and click the button below to highlight them in iPath.

KEGG orthologous groups

Some of these KOs are included in the interactive Pathways Explorer overview maps. Select an overview map and click the button below to highlight them in iPath.

3D structures in PDB containing this domain

Links to other resources describing this domain

InterPro	IPR000644