• Gene id: 254065

Gene Summary

• Gene Symbol: BRWD3   Gene   UCSC   Ensembl
• Aliases: BRODL, MRX93
• Gene name: bromodomain and WD repeat domain containing 3
• Alternate names: bromodomain and WD repeat-containing protein 3, bromo domain-containing protein disrupted in leukemia, novel WD repeat domain protein,
• Gene location: Xq21.1 (80809876: 80669502)     Exons: 42     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilitie
• OMIM: 614543

Protein Summary

• Protein general information: Q6RI45  
  • Name: Bromodomain and WD repeat containing protein 3
  • Length: 1802  
  • Mass: 203598
  • Tissue specificity: Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined. {ECO
• Sequence:

  MAAAPTQIEAELYYLIARFLQSGPCNKSAQVLVQELEEHQLIPRRLDWEGKEHRRSFEDLVAANAHIPPDYLLKI
  CERIGPLLDKEIPQSVPGVQTLLGVGRQSLLRDAKDCKSTLWNGSAFAALHRGRPPELPVNYVKPPNVVNITSAR
  QLTGCSRFGHIFPSSAYQHIKMHKRILGHLSSVYCVAFDRSGRRIFTGSDDCLVKIWATDDGRLLATLRGHSAEI
  SDMAVNYENTLIAAGSCDKVVRVWCLRTCAPVAVLQGHSASITSIQFCPSTKGTNRYLTSTGADGTICFWQWHVK
  TMKFRDRPVKFTERSRPGVQISCSSFSSGGMFITTGSTDHVIRIYYLGSEVPEKIAELESHTDKVVAVQFCNNGD
  SLRFVSGSRDGTARIWQYQQQEWKSIVLDMATKMTGNNLPSGEDKITKLKVTMVAWDRYDTTVITAVNNFLLKVW
  NSITGQLLHTLSGHDDEVFVLEAHPFDQRIILSAGHDGNIFIWDLDRGTKIRNYFNMIEGQGHGAVFDCKFSPDG
  NHFACTDSHGHLLLFGFGCSKYYEKIPDQMFFHTDYRPLIRDANNYVLDEQTQQAPHLMPPPFLVDVDGNPHPTK
  FQRLVPGRENCKDEQLIPQLGYVANGDGEVVEQVIGQQTNDQDESILDGIIRELQREQDLRLINEGDVPHLPVNR
  AYSVNGALRSPNMDISSSPNIRLRRHSSQIEGVRQMHNNAPRSQMATERDLMAWSRRVVVNELNNGVSRVQEECR
  TAKGDIEISLYTVEKKKKPSYTTQRNDYEPSCGRSLRRTQRKRQHTYQTRSNIEHNSQASCQNSGVQEDSDSSSE
  EDETVGTSDASVEDPVVEWQSESSSSDSSSEYSDWTADAGINLQPPKRQTRQTTRKICSSSDEENLKSLEERQKK
  PKQTRKKKGGLVSIAGEPNEEWFAPQWILDTIPRRSPFVPQMGDELIYFRQGHEAYVRAVRKSKIYSVNLQKQPW
  NKMDLREQEFVKIVGIKYEVGPPTLCCLKLAFLDPISGKMTGESFSIKYHDMPDVIDFLVLHQFYNEAKERNWQI
  GDRFRSIIDDAWWFGTVESQQPFQPEYPDSSFQCYSVHWDNNEREKMSPWDMEPIPEGTAFPDEVGAGVPVSQEE
  LTALLYKPQEGEWGAHSRDEECERVIQGINHLLSLDFASPFAVPVDLSAYPLYCTVVAYPTDLNTIRRRLENRFY
  RRISALMWEVRYIEHNARTFNEPDSPIVKAAKIVTDVLLRFIGDQSCTDILDTYNKIKAEERNSTDAEEDTEIVD
  LDSDGPGTSSGRKVKCRGRRQSLKCNPDAWKKQCKELLSLIYEREDSEPFRQPADLLSYPGHQEQEGESSESVVP
  ERQQDSSLSEDYQDVIDTPVDFSTVKETLEAGNYGSPLEFYKDVRQIFNNSKAYTSNKKSRIYSMMLRLSALFES
  HIKNIISEYKSAIQSQKRRRPRYRKRLRSSSSSLSSSGAPSPKGKQKQMKLQPKNDQNTSVSHARTSSPFSSPVS
  DAAEGLSLYLLDDEPDGPFSSSSFGGYSRSGNSHDPGKAKSFRNRVLPVKQDHSLDGPLTNGDGREPRTGIKRKL
  LSASEEDENMGGEDKEKKETKEKSHLSTSESGELGSSLSSESTCGSDSDSESTSRTDQDYVDGDHDYSKFIQTRP
  KRKLRKQHGNGKRNWKTRGTGGRGRWGRWGRWSRGGRGRGGRGRGSRGRGGGGTRGRGRGRGGRGASRGATRAKR
  ARIADDEFDTMFSGRFSRLPRIKTRNQGRRTVLYNDDSDNDNFVSTEDPLNLGTSRSGRVRKMTEKARVSHLMGW
  NY

• Structural information:
  • Protein Domains: (1158..122-)
    (/note="Bromo-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035-)
    (1317..141-)
    (/note="Bromo-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035"-)
  • Interpro: IPR001487  IPR036427  IPR015943  IPR001680  IPR019775   IPR017986  IPR036322  
  • Prosite: PS50014 PS00678 PS50082 PS50294
  • STRING: ENSP00000362372
• Other Databases: GeneCards:  BRWD3  Malacards:  BRWD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0007010	cytoskeleton organization	IBA	biological process
GO:0008360	regulation of cell shape	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0008360	regulation of cell shape	IMP	biological process
GO:0007010	cytoskeleton organization	IMP	biological process

Diseases

Associated diseases	References
X-linked mental retardation	KEGG:H00480
X-linked mental retardation	KEGG:H00480
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881