Seroatlas · Human Serome Atlas

BRWD3

Bromodomain and WD repeat-containing protein 3

Also known as: BRWD3_HUMAN, FLJ38568, MRX93

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

Protein identityUniProt · HPA

UniProt accession: Q6RI45
Gene: BRWD3
Ensembl: ENSG00000165288
Chromosome: X
Canonical length: 1802 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

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 disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

1802 residues, UniProt reviewed canonical sequence.

>Q6RI45|BRWD3
     1  MAAAPTQIEA ELYYLIARFL QSGPCNKSAQ VLVQELEEHQ LIPRRLDWEG KEHRRSFEDL
    61  VAANAHIPPD YLLKICERIG PLLDKEIPQS VPGVQTLLGV GRQSLLRDAK DCKSTLWNGS
   121  AFAALHRGRP PELPVNYVKP PNVVNITSAR QLTGCSRFGH IFPSSAYQHI KMHKRILGHL
   181  SSVYCVAFDR SGRRIFTGSD DCLVKIWATD DGRLLATLRG HSAEISDMAV NYENTLIAAG
   241  SCDKVVRVWC LRTCAPVAVL QGHSASITSI QFCPSTKGTN RYLTSTGADG TICFWQWHVK
   301  TMKFRDRPVK FTERSRPGVQ ISCSSFSSGG MFITTGSTDH VIRIYYLGSE VPEKIAELES
   361  HTDKVVAVQF CNNGDSLRFV SGSRDGTARI WQYQQQEWKS IVLDMATKMT GNNLPSGEDK
   421  ITKLKVTMVA WDRYDTTVIT AVNNFLLKVW NSITGQLLHT LSGHDDEVFV LEAHPFDQRI
   481  ILSAGHDGNI FIWDLDRGTK IRNYFNMIEG QGHGAVFDCK FSPDGNHFAC TDSHGHLLLF
   541  GFGCSKYYEK IPDQMFFHTD YRPLIRDANN YVLDEQTQQA PHLMPPPFLV DVDGNPHPTK
   601  FQRLVPGREN CKDEQLIPQL GYVANGDGEV VEQVIGQQTN DQDESILDGI IRELQREQDL
   661  RLINEGDVPH LPVNRAYSVN GALRSPNMDI SSSPNIRLRR HSSQIEGVRQ MHNNAPRSQM
   721  ATERDLMAWS RRVVVNELNN GVSRVQEECR TAKGDIEISL YTVEKKKKPS YTTQRNDYEP
   781  SCGRSLRRTQ RKRQHTYQTR SNIEHNSQAS CQNSGVQEDS DSSSEEDETV GTSDASVEDP
   841  VVEWQSESSS SDSSSEYSDW TADAGINLQP PKRQTRQTTR KICSSSDEEN LKSLEERQKK
   901  PKQTRKKKGG LVSIAGEPNE EWFAPQWILD TIPRRSPFVP QMGDELIYFR QGHEAYVRAV
   961  RKSKIYSVNL QKQPWNKMDL REQEFVKIVG IKYEVGPPTL CCLKLAFLDP ISGKMTGESF
  1021  SIKYHDMPDV IDFLVLHQFY NEAKERNWQI GDRFRSIIDD AWWFGTVESQ QPFQPEYPDS
  1081  SFQCYSVHWD NNEREKMSPW DMEPIPEGTA FPDEVGAGVP VSQEELTALL YKPQEGEWGA
  1141  HSRDEECERV IQGINHLLSL DFASPFAVPV DLSAYPLYCT VVAYPTDLNT IRRRLENRFY
  1201  RRISALMWEV RYIEHNARTF NEPDSPIVKA AKIVTDVLLR FIGDQSCTDI LDTYNKIKAE
  1261  ERNSTDAEED TEIVDLDSDG PGTSSGRKVK CRGRRQSLKC NPDAWKKQCK ELLSLIYERE
  1321  DSEPFRQPAD LLSYPGHQEQ EGESSESVVP ERQQDSSLSE DYQDVIDTPV DFSTVKETLE
  1381  AGNYGSPLEF YKDVRQIFNN SKAYTSNKKS RIYSMMLRLS ALFESHIKNI ISEYKSAIQS
  1441  QKRRRPRYRK RLRSSSSSLS SSGAPSPKGK QKQMKLQPKN DQNTSVSHAR TSSPFSSPVS
  1501  DAAEGLSLYL LDDEPDGPFS SSSFGGYSRS GNSHDPGKAK SFRNRVLPVK QDHSLDGPLT
  1561  NGDGREPRTG IKRKLLSASE EDENMGGEDK EKKETKEKSH LSTSESGELG SSLSSESTCG
  1621  SDSDSESTSR TDQDYVDGDH DYSKFIQTRP KRKLRKQHGN GKRNWKTRGT GGRGRWGRWG
  1681  RWSRGGRGRG GRGRGSRGRG GGGTRGRGRG RGGRGASRGA TRAKRARIAD DEFDTMFSGR
  1741  FSRLPRIKTR NQGRRTVLYN DDSDNDNFVS TEDPLNLGTS RSGRVRKMTE KARVSHLMGW
  1801  NY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BRWD3 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): 0.38
Highest tissue expression: 5.8 nTPM

Expression across tissuesHPA

Tissue

skin: 5.8 nTPM
retina: 5.4 nTPM
bone marrow: 4.8 nTPM
thymus: 4.8 nTPM
lymph node: 4 nTPM
appendix: 3.8 nTPM

Single-cell type

sertoli cells: 502 nCPM
neutrophils: 373 nCPM
thyrotrophs: 193 nCPM
esophageal apical cells: 153 nCPM
megakaryocyte-erythroid progenitors: 148 nCPM
lactotrophs: 148 nCPM

Immune cell

neutrophil: 0.4 nTPM
basophil: 0.1 nTPM
classical monocyte: 0.1 nTPM
eosinophil: 0.1 nTPM
gdT-cell: 0.1 nTPM
intermediate monocyte: 0.1 nTPM

Brain region

cerebellum: 17 nTPM
hypothalamus: 9.2 nTPM
midbrain: 9 nTPM
basal ganglia: 8.6 nTPM
white matter: 8.2 nTPM
pons: 7.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BRWD3.

Disease | AllUniProt

Conditions BRWD3 is implicated in, by any mechanism.

Intellectual developmental disorder, X-linked 93 (XLID93) MIM:300659

Disease | GeneticClinVar

69 pathogenic / likely-pathogenic of 1,179 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, X-linked 93
Inborn genetic diseases
BRWD3-related disorder
Intellectual disability
Neurodevelopmental disorder

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): 0.08
gnomAD pLI: 1
gnomAD missense Z: 4.27
DepMap mean gene effect: -0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

nucleus

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BRWD3 as an antibody target. Whether an autoantibody or antibody against BRWD3 could matter depends on whether native BRWD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BRWD3 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 BRWD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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