EFhEF-hand, calcium binding motif | |
|---|---|
| SMART ACC: | SM000054 |
| Description: | EF-hands are calcium-binding motifs that occur at least in pairs. Links between disease states and genes encoding EF-hands, particularly the S100 subclass, are emerging. Each motif consists of a 12 residue loop flanked on either side by a 12 residue alpha-helix. EF-hands undergo a conformational change unpon binding calcium ions. |
| InterPro ACC: | IPR002048 |
| InterPro abstract: | Many calcium-binding proteins belong to the same evolutionary family and share a type of calcium-binding domain known as the EF-hand. This type of domain consists of a twelve residue loop flanked on both sides by a twelve residue α-helical domain. In an EF-hand loop the calcium ion is coordinated in a pentagonal bipyramidal configuration. The six residues involved in the binding are in positions … expand |
| GO function: | calcium ion binding (GO:0005509) |
| Family alignment: | View the Family alignment or the Alignment consensus sequence |
| There are 343 947 EFh domains in 122 495 proteins in SMART's NRDB database. | |
Taxonomic distribution of proteins containing EFh domains
The tree below includes only several representative species and genera. The complete taxonomic breakdown of all proteins containing EFh domains can be accessed here. Click the counts or percentage values to display the corresponding proteins.
Predicted cellular role
| Binding / catalysis: | Ca2+-binding |
|---|
Relevant references for this domain
Primary literature for the EFh 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 EFh domain.
| Protein | Description | Disease / phenotype |
|---|---|---|
| CAN3_HUMAN | OMIM:114240 : Muscular dystrophy, limb-girdle, type 2A | |
| OMIM:253600 : no description |
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 EFh domain which could be assigned to a KEGG orthologous group, and not all proteins containing EFh domains. Please note that proteins can be included in multiple pathways, ie. the numbers below will not add to 100%.