BRWD1
entrez
54014
canonical
uniprot
Q9NSI6
canonical
ensembl
ENSG00000185658
resolver
ensp
ENSP00000330753
resolver
ensp
ENSP00000342106
resolver
ensp
ENSP00000344333
resolver
ensp
ENSP00000781150
resolver
genesymbol
BRWD1
resolver
genesymbol_syn
C21orf107
resolver
genesymbol_syn
WDR9
resolver
hgnc
HGNC:12760
resolver
uniprot
C9JK25
resolver
uniprot
O43721
resolver
uniprot
Q5R2V0
resolver
uniprot
Q5R2V1
resolver
uniprot
Q6P2D1
resolver
uniprot
Q8TCV3
resolver
uniprot
Q96QG9
resolver
uniprot
Q96QH0
resolver
uniprot
Q9NUK1
resolver
uniprot_entry
BRWD1_HUMAN
resolver
uniprot_sec
C9JK25
resolver
uniprot_sec
O43721
resolver
uniprot_sec
Q5R2V0
resolver
uniprot_sec
Q5R2V1
resolver
uniprot_sec
Q6P2D1
resolver
uniprot_sec
Q8TCV3
resolver
uniprot_sec
Q96QG9
resolver
uniprot_sec
Q96QH0
resolver
uniprot_sec
Q9NUK1
resolver
amino_acid_sequence
MAEPSSARRPVPLIESELYFLIARYLSAGPCRRAAQVLVQELEQYQLLPKRLDWEGNEHNRSYEELVLSNKHVAPDHLLQICQRIGPMLDKEIPPSISRVTSLLGAGRQSLLRTAKDCRHTVWKGSAFAALHRGRPPEMPVNYGSPPNLVEIHRGKQLTGCSTFSTAFPGTMYQHIKMHRRILGHLSAVYCVAFDRTGHRIFTGSDDCLVKIWSTHNGRLLSTLRGHSAEISDMAVNYENTMIAAGSCDKIIRVWCLRTCAPVAVLQGHTGSITSLQFSPMAKGSQRYMVSTGADGTVCFWQWDLESLKFSPRPLKFTEKPRPGVQMLCSSFSVGGMFLATGSTDHVIRMYFLGFEAPEKIAELESHTDKVDSIQFCNNGDRFLSGSRDGTARIWRFEQLEWRSILLDMATRISGDLSSEEERFMKPKVTMIAWNQNDSIVVTAVNDHVLKVWNSYTGQLLHNLMGHADEVFVLETHPFDSRIMLSAGHDGSIFIWDITKGTKMKHYFNMIEGQGHGAVFDCKFSQDGQHFACTDSHGHLLIFGFGCSKPYEKIPDQMFFHTDYRPLIRDSNNYVLDEQTQQAPHLMPPPFLVDVDGNPHPTKYQRLVPGRENSADEHLIPQLGYVATSDGEVIEQIISLQTNDNDERSPESSILDGMIRQLQQQQDQRMGADQDTIPRGLSNGEETPRRGFRRLSLDIQSPPNIGLRRSGQVEGVRQMHQNAPRSQIATERDLQAWKRRVVVPEVPLGIFRKLEDFRLEKGEEERNLYIIGRKRKTLQLSHKSDSVVLVSQSRQRTCRRKYPNYGRRNRSWRELSSGNESSSSVRHETSCDQSEGSGSSEEDEWRSDRKSESYSESSSDSSSRYSDWTADAGINLQPPLRTSCRRRITRFCSSSEDEISTENLSPPKRRRKRKKENKPKKENLRRMTPAELANMEHLYEFHPPVWITDTTLRKSPFVPQMGDEVIYFRQGHEAYIEAVRRNNIYELNPNKEPWRKMDLRDQELVKIVGIRYEVGPPTLCCLKLAFIDPATGKLMDKSFSIRYHDMPDVIDFLVLRQFYDEARQRNWQSCDRFRSIIDDAWWFGTVLSQEPYQPQYPDSHFQCYIVRWDNTEIEKLSPWDMEPIPDNVDPPEELGASISVTTDELEKLLYKPQAGEWGQKSRDEECDRIISGIDQLLNLDIAAAFAGPVDLCTYPKYCTVVAYPTDLYTIRMRLVNRFYRRLSALVWEVRYIEHNARTFNEPESVIARSAKKITDQLLKFIKNQHCTNISELSNTSENDEQNAEDLDDSDLPKTSSGRRRVHDGKKSIRATNYVESNWKKQCKELVNLIFQCEDSEPFRQPVDLVEYPDYRDIIDTPMDFGTVRETLDAGNYDSPLEFCKDIRLIFSNAKAYTPNKRSKIYSMTLRLSALFEEKMKKISSDFKIGQKFNEKLRRSQRFKQRQNCKGDSQPNKSIRNLKPKRLKSQTKIIPELVGSPTQSTSSRTAYLGTHKTSAGISSGVTSGDSSDSAESSERRKRNRPITNGSTLSESEVEDSLATSLSSSASSSSEESKESSRARESSSRSGLSRSSNLRVTRTRAAQRKTGPVSLANGCGRKATRKRVYLSDSDNNSLETGEILKARAGNNRKVLRKCAAVAANKIKLMSDVEENSSSESVCSGRKLPHRNASAVARKKLLHNSEDEQSLKSEIEEEELKDENQLLPVSSSHTAQSNVDESENRDSESESDLRVARKNWHANGYKSHTPAPSKTKFLKIESSEEDSKSHDSDHACNRTAGPSTSVQKLKAESISEEADSEPGRSGGRKYNTFHKNASFFKKTKILSDSEDSESEEQDREDGKCHKMEMNPISGNLNCDPIAMSQCSSDHGCETDLDSDDDKIEKPNNFMKDSASQDNGLSRKISRKRVCSSDSDSSLQVVKKSSKARTGLLRITRRCAATAANKIKLMSDVEDVSLENVHTRSKNGRKKPLHLACTTAKKKLSDCEGSVHCEVPSEQYACEGKPPDPDSEGSTKVLSQALNGDSDSEDMLNSEHKHRHTNIHKIDAPSKRKSSSVTSSGEDSKSHIPGSETDRTFSSESTLAQKATAENNFEVELNYGLRRWNGRRLRTYGKAPFSKTKVIHDSQETAEKEVKRKRSHPELENVKISETTGNSKFRPDTSSKSSDLGSVTESDIDCTDNTKTKRRKTKGKAKVVRKEFVPRDREPNTKVRTCMHNQKDAVQMPSETLKAKMVPEKVPRRCATVAANKIKIMSNLKETISGPENVWIRKSSRKLPHRNASAAAKKKLLNVYKEDDTTINSESEKELEDINRKMLFLRGFRSWKENAQ
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 51 (CILD51) [MIM:620438]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD51 is an autosomal recessive form characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced progressive motility. Affected individuals have recurrent upper and lower respiratory infections, and some exhibit dextrocardia and/or situs inversus. {ECO:0000269|PubMed:33389130}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Required for regulation of cell morphology and cytoskeletal organization (PubMed:21834987). {ECO:0000250|UniProtKB:Q921C3, ECO:0000269|PubMed:21834987}.
uniprot
proteins
mass_dalton
262936
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
12359327
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21834987
uniprot
proteins
pubmed
22464331
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25593309
uniprot
proteins
pubmed
33389130
uniprot
proteins
pubmed
39390519
uniprot
proteins
pubmed
9480850
uniprot
proteins
sequence_length
2320
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q921C3}. Nucleus {ECO:0000269|PubMed:25593309}. Cell projection, cilium membrane {ECO:0000269|PubMed:33389130}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000269|PubMed:33389130}.
uniprot
proteins