Version 5.4
| Homo sapiens Protein: BRWD3 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-78206.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | BRWD3 | ||||||||||||||||||
| Protein Name | bromodomain and WD repeat domain containing 3 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Protein | ENSP00000362372 | ||||||||||||||||||
| InnateDB Gene | IDBG-78204 (BRWD3) | ||||||||||||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||||||||||||
| Function | Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. {ECO:0000269PubMed:21834987}. | ||||||||||||||||||
| Subcellular Localization | |||||||||||||||||||
| Disease Associations | Note=A chromosomal aberration involving BRWD3 can be found in patients with B-cell chronic lymphocytic leukemia (B- CLL). Translocation t(X;11)(q21;q23) with ARHGAP20 does not result in fusion transcripts but disrupts both genes.Mental retardation, X-linked 93 (MRX93) [MIM:300659]: 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. {ECO:0000269PubMed:17668385}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
| Tissue Specificity | Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined. {ECO:0000269PubMed:15543602}. | ||||||||||||||||||
| Comments | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR001487
Bromodomain IPR001680 WD40 repeat IPR011044 Quinoprotein amine dehydrogenase, beta chain-like IPR017986 WD40-repeat-containing domain |
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| PFAM |
PF00439
PF00400 |
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| PRINTS |
PR00503
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| PIRSF | |||||||||||||||||||
| SMART |
SM00297
SM00320 |
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| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q6RI45 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-Q6RI45 | ||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 254065 | ||||||||||||||||||
| UniGene | Hs.600970 | ||||||||||||||||||
| RefSeq | NP_694984 | ||||||||||||||||||
| HUGO | HGNC:17342 | ||||||||||||||||||
| OMIM | 300553 | ||||||||||||||||||
| CCDS | CCDS14447 | ||||||||||||||||||
| HPRD | 06564 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AK095887 AL512504 AL590031 AL669934 AY497046 AY497047 AY497048 AY497049 AY497050 AY497051 AY497052 AY497053 AY497054 AY497055 AY497056 AY497057 AY497058 AY497059 AY497060 BC111490 | ||||||||||||||||||
| GenPept | AAI11491 AAS45471 AAS45472 AAS45473 AAS45474 AAS45475 AAS45476 AAS45477 AAS45478 AAS45479 AAS45480 AAS45481 AAS45482 AAS45483 AAS45484 AAS45485 BAC04641 CAI39936 CAI95143 CAI95405 | ||||||||||||||||||