Q9NSI6 (BRWD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 119.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Bromodomain and WD repeat-containing protein 1 Alternative name(s): WD repeat-containing protein 9 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 2320 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May be a transcriptional activator. May be involved in chromatin remodeling By similarity. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. Ref.10 |
| Subunit structure | Interacts with SMARCA4 By similarity. |
| Subcellular location | |
| Tissue specificity | Ubiquitously expressed. Ref.1 |
| Post-translational modification | Phosphorylated upon DNA damage, probably by ATM or ATR By similarity. Ref.7 Ref.8 Ref.9 |
| Sequence similarities | Contains 2 bromo domains. Contains 8 WD repeats. |
| Sequence caution | The sequence CAA10896.1 differs from that shown. Reason: Frameshift at positions 1762 and 1770. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Bromodomain Repeat WD repeat |
| Molecular function | Activator |
| PTM | Phosphoprotein |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | cytoskeleton organization Inferred from mutant phenotype Ref.10. Source: UniProtKB regulation of cell shapeInferred from mutant phenotype Ref.10. Source: UniProtKB transcription, DNA-dependentInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | cytoplasm Inferred from direct assay. Source: HPA nucleolusInferred from direct assay. Source: HPA |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform A (identifier: Q9NSI6-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform B (identifier: Q9NSI6-2) The sequence of this isoform differs from the canonical sequence as follows: 2191-2320: EFVPRDREPN...GFRSWKENAQ → GKTFTANISK...NVLDFNGCTL | ||||||
| Isoform C (identifier: Q9NSI6-3) The sequence of this isoform differs from the canonical sequence as follows: 2191-2285: EFVPRDREPN...AKKKLLNVYK → DKTFSPVYL 2286-2320: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||
Molecule processing | |||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2320 | 2320 | Bromodomain and WD repeat-containing protein 1 | PRO_0000050888 | |||||||||||||||||||
Regions | |||||||||||||||||||||||
| Repeat | 184 – 223 | 40 | WD 1 | ||||||||||||||||||||
| Repeat | 226 – 265 | 40 | WD 2 | ||||||||||||||||||||
| Repeat | 268 – 311 | 44 | WD 3 | ||||||||||||||||||||
| Repeat | 322 – 365 | 44 | WD 4 | ||||||||||||||||||||
| Repeat | 366 – 405 | 40 | WD 5 | ||||||||||||||||||||
| Repeat | 424 – 463 | 40 | WD 6 | ||||||||||||||||||||
| Repeat | 466 – 506 | 41 | WD 7 | ||||||||||||||||||||
| Repeat | 514 – 553 | 40 | WD 8 | ||||||||||||||||||||
| Domain | 1177 – 1247 | 71 | Bromo 1 | ||||||||||||||||||||
| Domain | 1330 – 1400 | 71 | Bromo 2 | ||||||||||||||||||||
| Compositional bias | 661 – 668 | 8 | Poly-Gln | ||||||||||||||||||||
| Compositional bias | 821 – 824 | 4 | Poly-Ser | ||||||||||||||||||||
| Compositional bias | 1539 – 1548 | 10 | Poly-Ser | ||||||||||||||||||||
| Compositional bias | 1687 – 1692 | 6 | Poly-Glu | ||||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||||
| Modified residue | 418 | 1 | Phosphoserine Ref.7 | ||||||||||||||||||||
| Modified residue | 696 | 1 | Phosphoserine Ref.8 | ||||||||||||||||||||
| Modified residue | 701 | 1 | Phosphoserine Ref.8 | ||||||||||||||||||||
| Modified residue | 791 | 1 | Phosphoserine Ref.7 | ||||||||||||||||||||
| Modified residue | 1275 | 1 | Phosphothreonine Ref.8 | ||||||||||||||||||||
| Modified residue | 1289 | 1 | Phosphoserine Ref.8 | ||||||||||||||||||||
| Modified residue | 1475 | 1 | Phosphoserine Ref.9 | ||||||||||||||||||||
| Modified residue | 1605 | 1 | Phosphoserine Ref.8 Ref.9 | ||||||||||||||||||||
| Modified residue | 1607 | 1 | Phosphoserine Ref.8 Ref.9 | ||||||||||||||||||||
| Modified residue | 1755 | 1 | Phosphoserine By similarity | ||||||||||||||||||||
| Modified residue | 1756 | 1 | Phosphoserine By similarity | ||||||||||||||||||||
| Modified residue | 1786 | 1 | Phosphoserine Ref.8 | ||||||||||||||||||||
| Modified residue | 1788 | 1 | Phosphoserine Ref.8 | ||||||||||||||||||||
| Modified residue | 1793 | 1 | Phosphoserine Ref.8 | ||||||||||||||||||||
| Modified residue | 1904 | 1 | Phosphoserine Ref.8 | ||||||||||||||||||||
| Modified residue | 1905 | 1 | Phosphoserine Ref.8 | ||||||||||||||||||||
| Modified residue | 1907 | 1 | Phosphoserine Ref.8 | ||||||||||||||||||||
| Modified residue | 1910 | 1 | Phosphoserine Ref.8 | ||||||||||||||||||||
| Modified residue | 2018 | 1 | Phosphoserine Ref.8 Ref.9 | ||||||||||||||||||||
| Modified residue | 2020 | 1 | Phosphoserine Ref.8 Ref.9 | ||||||||||||||||||||
| Modified residue | 2052 | 1 | Phosphoserine By similarity | ||||||||||||||||||||
Natural variations | |||||||||||||||||||||||
| Alternative sequence | 2191 – 2320 | 130 | EFVPR…KENAQ → GKTFTANISKTVRRQRQSKR PRLSVDDNDWEDLDYAKSKR VLRRSKIKTRNQGRRTVRYH DGDDDRSLENVLDFNGCTL in isoform B. | VSP_018526 | |||||||||||||||||||
| Alternative sequence | 2191 – 2285 | 95 | EFVPR…LNVYK → DKTFSPVYL in isoform C. | VSP_018527 | |||||||||||||||||||
| Alternative sequence | 2286 – 2320 | 35 | Missing in isoform C. | VSP_018528 | |||||||||||||||||||
| Natural variant | 83 | 1 | Q → E. Ref.3 Corresponds to variant rs2056844 [ dbSNP | Ensembl ]. | VAR_026435 | |||||||||||||||||||
| Natural variant | 1511 | 1 | S → P. Ref.2 Corresponds to variant rs2183573 [ dbSNP | Ensembl ]. | VAR_026436 | |||||||||||||||||||
| Natural variant | 1699 | 1 | L → P. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6 Corresponds to variant rs1041439 [ dbSNP | Ensembl ]. | VAR_026437 | |||||||||||||||||||
| Natural variant | 2156 | 1 | K → R. Corresponds to variant rs2234548 [ dbSNP | Ensembl ]. | VAR_057584 | |||||||||||||||||||
Experimental info | |||||||||||||||||||||||
| Sequence conflict | 1560 – 1562 | 3 | SSS → GTR in CAA10896. Ref.5 | ||||||||||||||||||||
| Sequence conflict | 1840 | 1 | M → V in AK002177. Ref.6 | ||||||||||||||||||||
| Sequence conflict | 2134 | 1 | E → G in AK002177. Ref.6 | ||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||
| Helix | 1318 – 1330 | 13 | |||||||||||||||||||||
| Helix | 1333 – 1338 | 6 | |||||||||||||||||||||
| Turn | 1344 – 1346 | 3 | |||||||||||||||||||||
| Helix | 1350 – 1353 | 4 | |||||||||||||||||||||
| Helix | 1363 – 1368 | 6 | |||||||||||||||||||||
| Helix | 1375 – 1392 | 18 | |||||||||||||||||||||
| Helix | 1399 – 1422 | 24 | |||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21." Ramos V.C., Vidal-Taboada J.M., Bergonon S., Egeo A., Fisher E.M.C., Scartezzini P., Oliva R. Biochim. Biophys. Acta 1577:377-383(2002) [PubMed: 12359327] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B), TISSUE SPECIFICITY, VARIANT PRO-1699. |
| [2] | "Isolation and characterization of a new chromosome 21 gene, WDR9, with different alternatively spliced transcripts and different protein forms." Scott H.S., Barras C., Mittaz L., Michaud J., Guidi S., Scamuffa N., Antonarakis S. Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B), VARIANTS PRO-1511 AND PRO-1699. |
| [3] | "Isolation of WDR9 cDNA on human chromosome 21q22.3." Obayashi I., Shibuya K., Minoshima S., Kudoh J., Shimizu N. Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS B AND C), VARIANTS GLU-83 AND PRO-1699. Tissue: Pancreas. |
| [4] | "The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. Yaspo M.-L.Nature 405:311-319(2000) [PubMed: 10830953] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2." Vidal-Taboada J.M., Bergonon S., Sanchez M., Lopez-Acedo C., Groet J., Nizetic D., Egeo A., Scartezzini P., Katsanis N., Fisher E.M.C., Delabar J.-M., Oliva R. Biochem. Biophys. Res. Commun. 243:572-578(1998) [PubMed: 9480850] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1560-1779, VARIANT PRO-1699. Tissue: Fetal heart. |
| [6] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1645-2320 (ISOFORM B), VARIANT PRO-1699. Tissue: Placenta. |
| [7] | "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis." Wang B., Malik R., Nigg E.A., Korner R. Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-418 AND SER-791, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-696; SER-701; THR-1275; SER-1289; SER-1605; SER-1607; SER-1786; SER-1788; SER-1793; SER-1904; SER-1905; SER-1907; SER-1910; SER-2018 AND SER-2020, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [9] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1475; SER-1605; SER-1607; SER-2018 AND SER-2020, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [10] | "Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration." Bai S.W., Herrera-Abreu M.T., Rohn J.L., Racine V., Tajadura V., Suryavanshi N., Bechtel S., Wiemann S., Baum B., Ridley A.J. BMC Biol. 9:54-54(2011) [PubMed: 21834987] [Abstract] Cited for: FUNCTION. |
| [11] | "Crystal structure of the second bromodomain of human bromodomain and WD repeat-containing protein 1 isoform A (WDR9)." Structural genomics consortium (SGC) Submitted (FEB-2011) to the PDB data bank Cited for: X-RAY CRYSTALLOGRAPHY (1.74 ANGSTROMS) OF 1310-1430. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AJ238214 mRNA. Translation: CAC37033.2. AJ292465 mRNA. Translation: CAC44371.1. AJ292466 mRNA. Translation: CAC44372.1. AB080586 mRNA. Translation: BAD74071.1. AB080587 mRNA. Translation: BAD74072.1. AF064861 Genomic DNA. No translation available. AF129408 Genomic DNA. No translation available. AL163279 Genomic DNA. Translation: CAB90452.1. AJ222636 mRNA. Translation: CAA10896.1. Frameshift. AK002177 mRNA. No translation available. | ||||||||||||
| IPI | IPI00250716. IPI00289944. IPI00746752. | ||||||||||||
| RefSeq | NP_061836.2. NM_018963.4. NP_387505.1. NM_033656.3. | ||||||||||||
| UniGene | Hs.627139. Hs.654740. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q9NSI6. | ||||||||||||
| SMR | Q9NSI6. Positions 1317-1423. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q9NSI6. 4 interactions. | ||||||||||||
| STRING | Q9NSI6. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 97535778. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | Q9NSI6. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000333229; ENSP00000330753; ENSG00000185658. | ||||||||||||
| GeneID | 54014. | ||||||||||||
| KEGG | hsa:54014. | ||||||||||||
| UCSC | uc002yxk.1. human. uc002yxl.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 54014. | ||||||||||||
| GeneCards | GC21M040556. | ||||||||||||
| HGNC | HGNC:12760. BRWD1. | ||||||||||||
| HPA | HPA030945. | ||||||||||||
| neXtProt | NX_Q9NSI6. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | prNOG07767. | ||||||||||||
| GeneTree | ENSGT00390000010788. | ||||||||||||
| HOVERGEN | HBG080933. | ||||||||||||
| InParanoid | Q9NSI6. | ||||||||||||
| OMA | SIQFCNN. | ||||||||||||
| OrthoDB | EOG470TGD. | ||||||||||||
| PhylomeDB | Q9NSI6. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q9NSI6. | ||||||||||||
| Bgee | Q9NSI6. | ||||||||||||
| CleanEx | HS_BRWD1. | ||||||||||||
| Genevestigator | Q9NSI6. | ||||||||||||
| GermOnline | ENSG00000185658. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR001487. Bromodomain. IPR018359. Bromodomain_CS. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR011046. WD40_repeat-like_dom. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:1.20.920.10. Bromodomain. 3 hits. G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit. | ||||||||||||
| KO | K11798. | ||||||||||||
| Pfam | PF00439. Bromodomain. 2 hits. PF00400. WD40. 8 hits. [Graphical view] | ||||||||||||
| PRINTS | PR00503. BROMODOMAIN. | ||||||||||||
| SMART | SM00297. BROMO. 2 hits. SM00320. WD40. 8 hits. [Graphical view] | ||||||||||||
| SUPFAM | SSF47370. Bromodomain. 2 hits. SSF50978. WD40_like. 1 hit. | ||||||||||||
| PROSITE | PS00633. BROMODOMAIN_1. 1 hit. PS50014. BROMODOMAIN_2. 2 hits. PS00678. WD_REPEATS_1. 2 hits. PS50082. WD_REPEATS_2. 6 hits. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| NextBio | 56274. | ||||||||||||
Entry information
| Entry name | BRWD1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NSI6 Secondary accession number(s): C9JK25 Q9NUK1 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 21 Human chromosome 21: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with