Gene Gene information from NCBI Gene database.
Entrez ID 54014
Gene name Bromodomain and WD repeat domain containing 1
Gene symbol BRWD1
Synonyms (NCBI Gene)
C21orf107CILD51DCAF19N143WDR9WRD9
Chromosome 21
Chromosome location 21q22.2
Summary 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.
701
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005634 Component Nucleus HDA 16780588
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 25593309
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617824 12760 ENSG00000185658
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bronchiectasis Likely pathogenic rs147211854 RCV001374586
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ciliary dyskinesia, primary, 51 Likely pathogenic rs147211854 RCV003237323
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer Likely pathogenic rs147211854 RCV005909285
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility Likely pathogenic rs147211854 RCV001374586
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AGAMMAGLOBULINEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 31989994, 36035305
★☆☆☆☆
Found in Text Mining only
Azoospermia Associate 25739334
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Associate 20014019
★☆☆☆☆
Found in Text Mining only
Osteoarthritis Associate 34082824
★★☆☆☆
Found in Text Mining + Unknown/Other Associations