Entity Details
| Primary name |
BRWD3_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q6RI45 |
| EntryName | BRWD3_HUMAN |
| FullName | Bromodomain and WD repeat-containing protein 3 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 1802 |
| SequenceStatus | complete |
| DateCreated | 2007-04-03 |
| DateModified | 2021-06-02 |
Subcellular Location
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Domains
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| Domain | Name | Category | Type |
| IPR001487 | Bromodomain | Domain | Domain |
| IPR001680 | WD40 repeat | Repeat | Repeat |
| IPR015943 | WD40/YVTN repeat-like-containing domain superfamily | Family | Homologous superfamily |
| IPR019775 | WD40 repeat, conserved site | Site | Conserved site |
| IPR036322 | WD40-repeat-containing domain superfamily | Family | Homologous superfamily |
| IPR036427 | Bromodomain-like superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 300659 | OMIM | Mental retardation, X-linked 93 (MRX93) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX93 is associated with macrocephaly. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction