The PAX domain within your query sequence starts at position 15 and ends at position 108, and its E-value is 1.2e-22.
PAXPaired Box domain | |
|---|---|
| SMART ACC: | SM000351 |
| Description: | - |
| InterPro ACC: | IPR001523 |
| InterPro abstract: | The paired domain is an approximately 126 amino acid DNA-binding domain, which is found in eukaryotic transcription regulatory proteins involved in embryogenesis. The domain was originally described as the 'paired box' in the Drosophila protein paired (prd) [ PUBMED:2877747 PUBMED:3123319 … expand |
| GO process: | regulation of DNA-templated transcription (GO:0006355) |
| GO function: | DNA binding (GO:0003677) |
| Family alignment: | View the Family alignment or the Alignment consensus sequence |
| There are 7 270 PAX domains in 7 258 proteins in SMART's NRDB database. | |
Taxonomic distribution of proteins containing PAX domains
The tree below includes only several representative species and genera. The complete taxonomic breakdown of all proteins containing PAX domains can be accessed here. Click the counts or percentage values to display the corresponding proteins.
Relevant references for this domain
Primary literature for the PAX 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 PAX domain.
| Protein | Description | Disease / phenotype |
|---|---|---|
| PAX2_HUMAN | OMIM:167409 : Optic nerve coloboma with renal disease | |
| OMIM:120330 : no description | ||
| PAX3_HUMAN | OMIM:193500 : Waardenburg syndrome, type I ; Waardenburg syndrome, type III | |
| OMIM:148820 : Rhabdomyosarcoma, alveolar | ||
| OMIM:268220 : Craniofacial-deafness-hand syndrome | ||
| OMIM:122880 : no description | ||
| PAX6_HUMAN | OMIM:106210 : Aniridia ; Peters anomaly | |
| OMIM:603807 : Cataract, congenital, with late-onset corneal dystrophy ; Foveal hypoplasia, isolated | ||
| OMIM:136520 : Ectopia pupillae | ||
| OMIM:129750 : Keratitis | ||
| OMIM:148190 : 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 PAX domain which could be assigned to a KEGG orthologous group, and not all proteins containing PAX domains. Please note that proteins can be included in multiple pathways, ie. the numbers below will not add to 100%.
KEGG pathways
KEGG orthologous groups
3D structures in PDB containing this domain
Links to other resources describing this domain
| Pfam | PAX |
|---|---|
| PROSITE | PAIRED_BOX |
| InterPro | IPR001523 |