Seroatlas · Human Serome Atlas

BRWD1

Bromodomain and WD repeat-containing protein 1

Also known as: BRWD1_HUMAN, C21orf107, DCAF19, FLJ11315, N143, WDR9

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NSI6
Gene: BRWD1
Ensembl: ENSG00000185658
Chromosome: 21
Canonical length: 2320 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli,Cytosol

OverviewNCBI 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 multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]

Canonical amino-acid sequenceUniProt

2320 residues, UniProt reviewed canonical sequence.

>Q9NSI6|BRWD1
     1  MAEPSSARRP VPLIESELYF LIARYLSAGP CRRAAQVLVQ ELEQYQLLPK RLDWEGNEHN
    61  RSYEELVLSN KHVAPDHLLQ ICQRIGPMLD KEIPPSISRV TSLLGAGRQS LLRTAKDCRH
   121  TVWKGSAFAA LHRGRPPEMP VNYGSPPNLV EIHRGKQLTG CSTFSTAFPG TMYQHIKMHR
   181  RILGHLSAVY CVAFDRTGHR IFTGSDDCLV KIWSTHNGRL LSTLRGHSAE ISDMAVNYEN
   241  TMIAAGSCDK IIRVWCLRTC APVAVLQGHT GSITSLQFSP MAKGSQRYMV STGADGTVCF
   301  WQWDLESLKF SPRPLKFTEK PRPGVQMLCS SFSVGGMFLA TGSTDHVIRM YFLGFEAPEK
   361  IAELESHTDK VDSIQFCNNG DRFLSGSRDG TARIWRFEQL EWRSILLDMA TRISGDLSSE
   421  EERFMKPKVT MIAWNQNDSI VVTAVNDHVL KVWNSYTGQL LHNLMGHADE VFVLETHPFD
   481  SRIMLSAGHD GSIFIWDITK GTKMKHYFNM IEGQGHGAVF DCKFSQDGQH FACTDSHGHL
   541  LIFGFGCSKP YEKIPDQMFF HTDYRPLIRD SNNYVLDEQT QQAPHLMPPP FLVDVDGNPH
   601  PTKYQRLVPG RENSADEHLI PQLGYVATSD GEVIEQIISL QTNDNDERSP ESSILDGMIR
   661  QLQQQQDQRM GADQDTIPRG LSNGEETPRR GFRRLSLDIQ SPPNIGLRRS GQVEGVRQMH
   721  QNAPRSQIAT ERDLQAWKRR VVVPEVPLGI FRKLEDFRLE KGEEERNLYI IGRKRKTLQL
   781  SHKSDSVVLV SQSRQRTCRR KYPNYGRRNR SWRELSSGNE SSSSVRHETS CDQSEGSGSS
   841  EEDEWRSDRK SESYSESSSD SSSRYSDWTA DAGINLQPPL RTSCRRRITR FCSSSEDEIS
   901  TENLSPPKRR RKRKKENKPK KENLRRMTPA ELANMEHLYE FHPPVWITDT TLRKSPFVPQ
   961  MGDEVIYFRQ GHEAYIEAVR RNNIYELNPN KEPWRKMDLR DQELVKIVGI RYEVGPPTLC
  1021  CLKLAFIDPA TGKLMDKSFS IRYHDMPDVI DFLVLRQFYD EARQRNWQSC DRFRSIIDDA
  1081  WWFGTVLSQE PYQPQYPDSH FQCYIVRWDN TEIEKLSPWD MEPIPDNVDP PEELGASISV
  1141  TTDELEKLLY KPQAGEWGQK SRDEECDRII SGIDQLLNLD IAAAFAGPVD LCTYPKYCTV
  1201  VAYPTDLYTI RMRLVNRFYR RLSALVWEVR YIEHNARTFN EPESVIARSA KKITDQLLKF
  1261  IKNQHCTNIS ELSNTSENDE QNAEDLDDSD LPKTSSGRRR VHDGKKSIRA TNYVESNWKK
  1321  QCKELVNLIF QCEDSEPFRQ PVDLVEYPDY RDIIDTPMDF GTVRETLDAG NYDSPLEFCK
  1381  DIRLIFSNAK AYTPNKRSKI YSMTLRLSAL FEEKMKKISS DFKIGQKFNE KLRRSQRFKQ
  1441  RQNCKGDSQP NKSIRNLKPK RLKSQTKIIP ELVGSPTQST SSRTAYLGTH KTSAGISSGV
  1501  TSGDSSDSAE SSERRKRNRP ITNGSTLSES EVEDSLATSL SSSASSSSEE SKESSRARES
  1561  SSRSGLSRSS NLRVTRTRAA QRKTGPVSLA NGCGRKATRK RVYLSDSDNN SLETGEILKA
  1621  RAGNNRKVLR KCAAVAANKI KLMSDVEENS SSESVCSGRK LPHRNASAVA RKKLLHNSED
  1681  EQSLKSEIEE EELKDENQLL PVSSSHTAQS NVDESENRDS ESESDLRVAR KNWHANGYKS
  1741  HTPAPSKTKF LKIESSEEDS KSHDSDHACN RTAGPSTSVQ KLKAESISEE ADSEPGRSGG
  1801  RKYNTFHKNA SFFKKTKILS DSEDSESEEQ DREDGKCHKM EMNPISGNLN CDPIAMSQCS
  1861  SDHGCETDLD SDDDKIEKPN NFMKDSASQD NGLSRKISRK RVCSSDSDSS LQVVKKSSKA
  1921  RTGLLRITRR CAATAANKIK LMSDVEDVSL ENVHTRSKNG RKKPLHLACT TAKKKLSDCE
  1981  GSVHCEVPSE QYACEGKPPD PDSEGSTKVL SQALNGDSDS EDMLNSEHKH RHTNIHKIDA
  2041  PSKRKSSSVT SSGEDSKSHI PGSETDRTFS SESTLAQKAT AENNFEVELN YGLRRWNGRR
  2101  LRTYGKAPFS KTKVIHDSQE TAEKEVKRKR SHPELENVKI SETTGNSKFR PDTSSKSSDL
  2161  GSVTESDIDC TDNTKTKRRK TKGKAKVVRK EFVPRDREPN TKVRTCMHNQ KDAVQMPSET
  2221  LKAKMVPEKV PRRCATVAAN KIKIMSNLKE TISGPENVWI RKSSRKLPHR NASAAAKKKL
  2281  LNVYKEDDTT INSESEKELE DINRKMLFLR GFRSWKENAQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BRWD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.43
Highest tissue expression: 52 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 52 nTPM
basal ganglia: 43 nTPM
amygdala: 40 nTPM
hypothalamus: 40 nTPM
retina: 36 nTPM
hippocampal formation: 34 nTPM

Single-cell type

sertoli cells: 404 nCPM
choroid plexus epithelial cells: 367 nCPM
myonuclei: 333 nCPM
distal convoluted tubule cells: 327 nCPM
renal collecting duct intercalated cells: 304 nCPM
rod photoreceptor cells: 303 nCPM

Immune cell

eosinophil: 9.8 nTPM
T-reg: 8.5 nTPM
NK-cell: 8.4 nTPM
memory CD8 T-cell: 8.3 nTPM
naive CD4 T-cell: 8.3 nTPM
gdT-cell: 8.1 nTPM

Brain region

cerebellum: 95 nTPM
hypothalamus: 94 nTPM
cerebral cortex: 88 nTPM
basal ganglia: 87 nTPM
white matter: 80 nTPM
hippocampal formation: 72 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BRWD1.

Disease | AllUniProt

Conditions BRWD1 is implicated in, by any mechanism.

Ciliary dyskinesia, primary, 51 (CILD51) MIM:620438

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 335 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Premature ovarian failure
Situs inversus
Bronchiectasis
Recurrent sinusitis
Recurrent otitis media

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.22
gnomAD pLI: 1
gnomAD missense Z: 2.85
DepMap mean gene effect: -0.21
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BRWD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BRWD1 as an antibody target. Whether an autoantibody or antibody against BRWD1 could matter depends on whether native BRWD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BRWD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BRWD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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