 WH1WASP homology region 1 | |
|---|---|
| SMART ACC: | SM000461 |
| Description: | Region of the Wiskott-Aldrich syndrome protein (WASp) that contains point mutations in the majority of patients with WAS. Unknown function. Ena-like WH1 domains bind polyproline-containing peptides, and that Homer contains a WH1 domain. |
| InterPro ACC: | IPR000697 |
| InterPro abstract: | The EVH1 (WH1, RanBP1-WASP) domain is found in multi-domain proteins implicated in a diverse range of signalling, nuclear transport and cytoskeletal events. This domain of around 115 amino acids is present in species ranging from yeast to mammals. Many EVH1-containing proteins associate with actin-based structures and play a role in cytoskeletal organisation. EVH1 domains recognise and bind the … expand |
| Family alignment: | View the Family alignment or the Alignment consensus sequence |
| There are 4 280 WH1 domains in 4 278 proteins in SMART's NRDB database. | |
Taxonomic distribution of proteins containing WH1 domains
The tree below includes only several representative species and genera. The complete taxonomic breakdown of all proteins containing WH1 domains can be accessed here. Click the counts or percentage values to display the corresponding proteins.
Predicted cellular role
| Cellular role: | Signalling |
|---|---|
| Binding / catalysis: | Protein-binding, polyproline-binding |
Relevant references for this domain
Primary literature for the WH1 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 WH1 domain.
| Protein | Description | Disease / phenotype |
|---|---|---|
| WASP_HUMAN | OMIM:301000 : Wiskott-Aldrich syndrome ; Thrombocytopenia, X-linked | |
| OMIM:313900 : Neutropenia, severe congenital, X-linked | ||
| OMIM:300299 : 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 WH1 domain which could be assigned to a KEGG orthologous group, and not all proteins containing WH1 domains. Please note that proteins can be included in multiple pathways, ie. the numbers below will not add to 100%.