Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54014
Gene name Gene Name - the full gene name approved by the HGNC.
Bromodomain and WD repeat domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BRWD1
Synonyms (NCBI Gene) Gene synonyms aliases
C21orf107, CILD51, DCAF19, N143, WDR9, WRD9
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CILD51
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multipro
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020133 hsa-miR-130b-3p Sequencing 20371350
MIRT022230 hsa-miR-124-3p Microarray 18668037
MIRT028227 hsa-miR-33a-5p Sequencing 20371350
MIRT051333 hsa-miR-15a-5p CLASH 23622248
MIRT048284 hsa-miR-192-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005634 Component Nucleus HDA 16780588
GO:0005634 Component Nucleus IBA 21873635
GO:0005654 Component Nucleoplasm TAS
GO:0005730 Component Nucleolus IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617824 12760 ENSG00000185658
Protein
UniProt ID Q9NSI6
Protein name Bromodomain and WD repeat-containing protein 1 (WD repeat-containing protein 9)
Protein 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. {ECO:0000250, ECO:0000269|PubMed
PDB 3Q2E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 175 214 WD domain, G-beta repeat Repeat
PF00400 WD40 218 256 WD domain, G-beta repeat Repeat
PF00400 WD40 260 302 WD domain, G-beta repeat Repeat
PF00400 WD40 358 396 WD domain, G-beta repeat Repeat
PF00400 WD40 458 497 WD domain, G-beta repeat Repeat
PF00439 Bromodomain 1166 1252 Bromodomain Domain
PF00439 Bromodomain 1322 1405 Bromodomain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:12359327). Expressed in respiratory epithelial cells and testis spermatozoa. {ECO:0000269|PubMed:12359327, ECO:0000269|PubMed:33389130}.
Sequence
MAEPSSARRPVPLIESELYFLIARYLSAGPCRRAAQVLVQELEQYQLLPKRLDWEGNEHN
RSYEELVLSNKHVAPDHLLQICQRIGPMLDKEIPPSISRVTSLLGAGRQSLLRTAKDCRH
TVWKGSAFAALHRGRPPEMPVNYGSPPNLVEIHRGKQLTGCSTFSTAFPGTMYQHIKMHR
RILGHLSAVYCVAFDRTGHRIFTGSDDCLVKIWS
THNGRLLSTLRGHSAEISDMAVNYEN
TMIAAGSCDKIIRVWC
LRTCAPVAVLQGHTGSITSLQFSPMAKGSQRYMVSTGADGTVCF
WQ
WDLESLKFSPRPLKFTEKPRPGVQMLCSSFSVGGMFLATGSTDHVIRMYFLGFEAPEK
IAELESHTDKVDSIQFCNNGDRFLSGSRDGTARIWR
FEQLEWRSILLDMATRISGDLSSE
EERFMKPKVTMIAWNQNDSIVVTAVNDHVLKVWNSYTGQLLHNLMGHADEVFVLETHPFD
SRIMLSAGHDGSIFIWD
ITKGTKMKHYFNMIEGQGHGAVFDCKFSQDGQHFACTDSHGHL
LIFGFGCSKPYEKIPDQMFFHTDYRPLIRDSNNYVLDEQTQQAPHLMPPPFLVDVDGNPH
PTKYQRLVPGRENSADEHLIPQLGYVATSDGEVIEQIISLQTNDNDERSPESSILDGMIR
QLQQQQDQRMGADQDTIPRGLSNGEETPRRGFRRLSLDIQSPPNIGLRRSGQVEGVRQMH
QNAPRSQIATERDLQAWKRRVVVPEVPLGIFRKLEDFRLEKGEEERNLYIIGRKRKTLQL
SHKSDSVVLVSQSRQRTCRRKYPNYGRRNRSWRELSSGNESSSSVRHETSCDQSEGSGSS
EEDEWRSDRKSESYSESSSDSSSRYSDWTADAGINLQPPLRTSCRRRITRFCSSSEDEIS
TENLSPPKRRRKRKKENKPKKENLRRMTPAELANMEHLYEFHPPVWITDTTLRKSPFVPQ
MGDEVIYFRQGHEAYIEAVRRNNIYELNPNKEPWRKMDLRDQELVKIVGIRYEVGPPTLC
CLKLAFIDPATGKLMDKSFSIRYHDMPDVIDFLVLRQFYDEARQRNWQSCDRFRSIIDDA
WWFGTVLSQEPYQPQYPDSHFQCYIVRWDNTEIEKLSPWDMEPIPDNVDPPEELGASISV
TTDELEKLLYKPQAGEWGQKSRDEECDRIISGIDQLLNLDIAAAFAGPVDLCTYPKYCTV
VAYPTDLYTIRMRLVNRFYRRLSALVWEVRYIEHNARTFNEPESVIARSAKK
ITDQLLKF
IKNQHCTNISELSNTSENDEQNAEDLDDSDLPKTSSGRRRVHDGKKSIRATNYVESNWKK
QCKELVNLIFQCEDSEPFRQPVDLVEYPDYRDIIDTPMDFGTVRETLDAGNYDSPLEFCK
DIRLIFSNAKAYTPNKRSKIYSMTL
RLSALFEEKMKKISSDFKIGQKFNEKLRRSQRFKQ
RQNCKGDSQPNKSIRNLKPKRLKSQTKIIPELVGSPTQSTSSRTAYLGTHKTSAGISSGV
TSGDSSDSAESSERRKRNRPITNGSTLSESEVEDSLATSLSSSASSSSEESKESSRARES
SSRSGLSRSSNLRVTRTRAAQRKTGPVSLANGCGRKATRKRVYLSDSDNNSLETGEILKA
RAGNNRKVLRKCAAVAANKIKLMSDVEENSSSESVCSGRKLPHRNASAVARKKLLHNSED
EQSLKSEIEEEELKDENQLLPVSSSHTAQSNVDESENRDSESESDLRVARKNWHANGYKS
HTPAPSKTKFLKIESSEEDSKSHDSDHACNRTAGPSTSVQKLKAESISEEADSEPGRSGG
RKYNTFHKNASFFKKTKILSDSEDSESEEQDREDGKCHKMEMNPISGNLNCDPIAMSQCS
SDHGCETDLDSDDDKIEKPNNFMKDSASQDNGLSRKISRKRVCSSDSDSSLQVVKKSSKA
RTGLLRITRRCAATAANKIKLMSDVEDVSLENVHTRSKNGRKKPLHLACTTAKKKLSDCE
GSVHCEVPSEQYACEGKPPDPDSEGSTKVLSQALNGDSDSEDMLNSEHKHRHTNIHKIDA
PSKRKSSSVTSSGEDSKSHIPGSETDRTFSSESTLAQKATAENNFEVELNYGLRRWNGRR
LRTYGKAPFSKTKVIHDSQETAEKEVKRKRSHPELENVKISETTGNSKFRPDTSSKSSDL
GSVTESDIDCTDNTKTKRRKTKGKAKVVRKEFVPRDREPNTKVRTCMHNQKDAVQMPSET
LKAKMVPEKVPRRCATVAANKIKIMSNLKETISGPENVWIRKSSRKLPHRNASAAAKKKL
LNVYKEDDTTINSESEKELEDINRKMLFLRGFRSWKENAQ
Sequence length 2320
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Interleukin-7 signaling
Chromatin modifying enzymes
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Oligospermia Oligospermia rs1602125411, rs377712900 18353305
Unknown
Disease term Disease name Evidence References Source
Ciliary dyskinesia ciliary dyskinesia, primary, 51, primary ciliary dyskinesia GenCC
Agammaglobulinemia agammaglobulinemia GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 31989994, 36035305
Azoospermia Associate 25739334
Colitis Ulcerative Associate 20014019
Osteoarthritis Associate 34082824