Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Bromodomain and WD repeat-containing protein 3

Gene

BRWD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.1 Publication

GO - Biological processi

  • cytoskeleton organization Source: UniProtKB
  • regulation of cell shape Source: UniProtKB
  • regulation of transcription from RNA polymerase II promoter Source: GO_Central
Complete GO annotation...

Enzyme and pathway databases

SignaLinkiQ6RI45.

Names & Taxonomyi

Protein namesi
Recommended name:
Bromodomain and WD repeat-containing protein 3
Gene namesi
Name:BRWD3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:17342. BRWD3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving BRWD3 can be found in patients with B-cell chronic lymphocytic leukemia (B-CLL). Translocation t(X;11)(q21;q23) with ARHGAP20 does not result in fusion transcripts but disrupts both genes.

Mental retardation, X-linked 93 (MRX93)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX93 is associated with macrocephaly.
See also OMIM:300659
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0369401596K → E in MRX93; may be a rare polymorphism. 1 PublicationCorresponds to variant rs137853272dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi254065.
MIMi300659. phenotype.
OpenTargetsiENSG00000165288.
Orphaneti323. FG syndrome.
PharmGKBiPA134900775.

Polymorphism and mutation databases

BioMutaiBRWD3.
DMDMi313104082.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002830891 – 1802Bromodomain and WD repeat-containing protein 3Add BLAST1802

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei693PhosphoserineCombined sources1
Modified residuei703PhosphoserineCombined sources1
Modified residuei885PhosphoserineBy similarity1
Modified residuei886PhosphoserineBy similarity1
Modified residuei1577PhosphoserineCombined sources1
Modified residuei1579PhosphoserineCombined sources1
Modified residuei1763PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6RI45.
MaxQBiQ6RI45.
PaxDbiQ6RI45.
PeptideAtlasiQ6RI45.
PRIDEiQ6RI45.

PTM databases

iPTMnetiQ6RI45.
PhosphoSitePlusiQ6RI45.

Expressioni

Tissue specificityi

Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined.1 Publication

Developmental stagei

Expressed in fetal liver.

Gene expression databases

BgeeiENSG00000165288.
CleanExiHS_BRWD3.
GenevisibleiQ6RI45. HS.

Organism-specific databases

HPAiHPA012802.

Interactioni

Protein-protein interaction databases

BioGridi129012. 8 interactors.
IntActiQ6RI45. 7 interactors.
STRINGi9606.ENSP00000362372.

Structurei

3D structure databases

ProteinModelPortaliQ6RI45.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati86 – 127WD 1Add BLAST42
Repeati178 – 219WD 2Add BLAST42
Repeati221 – 259WD 3Add BLAST39
Repeati262 – 305WD 4Add BLAST44
Repeati316 – 355WD 5Add BLAST40
Repeati360 – 401WD 6Add BLAST42
Repeati421 – 460WD 7Add BLAST40
Repeati463 – 503WD 8Add BLAST41
Repeati511 – 550WD 9Add BLAST40
Domaini1158 – 1228Bromo 1PROSITE-ProRule annotationAdd BLAST71
Domaini1317 – 1412Bromo 2PROSITE-ProRule annotationAdd BLAST96

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1659 – 1719Gly-richAdd BLAST61

Sequence similaritiesi

Contains 2 bromo domains.PROSITE-ProRule annotation
Contains 9 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Bromodomain, Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IRXR. Eukaryota.
COG2319. LUCA.
GeneTreeiENSGT00720000108687.
HOVERGENiHBG108248.
InParanoidiQ6RI45.
KOiK11798.
OMAiTRSNIDH.
OrthoDBiEOG091G00HZ.
PhylomeDBiQ6RI45.
TreeFamiTF324197.

Family and domain databases

Gene3Di1.20.920.10. 2 hits.
2.130.10.10. 2 hits.
InterProiIPR001487. Bromodomain.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00439. Bromodomain. 2 hits.
PF00400. WD40. 5 hits.
[Graphical view]
PRINTSiPR00503. BROMODOMAIN.
SMARTiSM00297. BROMO. 2 hits.
SM00320. WD40. 8 hits.
[Graphical view]
SUPFAMiSSF47370. SSF47370. 2 hits.
SSF50978. SSF50978. 1 hit.
PROSITEiPS50014. BROMODOMAIN_2. 2 hits.
PS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 5 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6RI45-1) [UniParc]FASTAAdd to basket
Also known as: BRWD3-A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAAPTQIEA ELYYLIARFL QSGPCNKSAQ VLVQELEEHQ LIPRRLDWEG
60 70 80 90 100
KEHRRSFEDL VAANAHIPPD YLLKICERIG PLLDKEIPQS VPGVQTLLGV
110 120 130 140 150
GRQSLLRDAK DCKSTLWNGS AFAALHRGRP PELPVNYVKP PNVVNITSAR
160 170 180 190 200
QLTGCSRFGH IFPSSAYQHI KMHKRILGHL SSVYCVAFDR SGRRIFTGSD
210 220 230 240 250
DCLVKIWATD DGRLLATLRG HSAEISDMAV NYENTLIAAG SCDKVVRVWC
260 270 280 290 300
LRTCAPVAVL QGHSASITSI QFCPSTKGTN RYLTSTGADG TICFWQWHVK
310 320 330 340 350
TMKFRDRPVK FTERSRPGVQ ISCSSFSSGG MFITTGSTDH VIRIYYLGSE
360 370 380 390 400
VPEKIAELES HTDKVVAVQF CNNGDSLRFV SGSRDGTARI WQYQQQEWKS
410 420 430 440 450
IVLDMATKMT GNNLPSGEDK ITKLKVTMVA WDRYDTTVIT AVNNFLLKVW
460 470 480 490 500
NSITGQLLHT LSGHDDEVFV LEAHPFDQRI ILSAGHDGNI FIWDLDRGTK
510 520 530 540 550
IRNYFNMIEG QGHGAVFDCK FSPDGNHFAC TDSHGHLLLF GFGCSKYYEK
560 570 580 590 600
IPDQMFFHTD YRPLIRDANN YVLDEQTQQA PHLMPPPFLV DVDGNPHPTK
610 620 630 640 650
FQRLVPGREN CKDEQLIPQL GYVANGDGEV VEQVIGQQTN DQDESILDGI
660 670 680 690 700
IRELQREQDL RLINEGDVPH LPVNRAYSVN GALRSPNMDI SSSPNIRLRR
710 720 730 740 750
HSSQIEGVRQ MHNNAPRSQM ATERDLMAWS RRVVVNELNN GVSRVQEECR
760 770 780 790 800
TAKGDIEISL YTVEKKKKPS YTTQRNDYEP SCGRSLRRTQ RKRQHTYQTR
810 820 830 840 850
SNIEHNSQAS CQNSGVQEDS DSSSEEDETV GTSDASVEDP VVEWQSESSS
860 870 880 890 900
SDSSSEYSDW TADAGINLQP PKRQTRQTTR KICSSSDEEN LKSLEERQKK
910 920 930 940 950
PKQTRKKKGG LVSIAGEPNE EWFAPQWILD TIPRRSPFVP QMGDELIYFR
960 970 980 990 1000
QGHEAYVRAV RKSKIYSVNL QKQPWNKMDL REQEFVKIVG IKYEVGPPTL
1010 1020 1030 1040 1050
CCLKLAFLDP ISGKMTGESF SIKYHDMPDV IDFLVLHQFY NEAKERNWQI
1060 1070 1080 1090 1100
GDRFRSIIDD AWWFGTVESQ QPFQPEYPDS SFQCYSVHWD NNEREKMSPW
1110 1120 1130 1140 1150
DMEPIPEGTA FPDEVGAGVP VSQEELTALL YKPQEGEWGA HSRDEECERV
1160 1170 1180 1190 1200
IQGINHLLSL DFASPFAVPV DLSAYPLYCT VVAYPTDLNT IRRRLENRFY
1210 1220 1230 1240 1250
RRISALMWEV RYIEHNARTF NEPDSPIVKA AKIVTDVLLR FIGDQSCTDI
1260 1270 1280 1290 1300
LDTYNKIKAE ERNSTDAEED TEIVDLDSDG PGTSSGRKVK CRGRRQSLKC
1310 1320 1330 1340 1350
NPDAWKKQCK ELLSLIYERE DSEPFRQPAD LLSYPGHQEQ EGESSESVVP
1360 1370 1380 1390 1400
ERQQDSSLSE DYQDVIDTPV DFSTVKETLE AGNYGSPLEF YKDVRQIFNN
1410 1420 1430 1440 1450
SKAYTSNKKS RIYSMMLRLS ALFESHIKNI ISEYKSAIQS QKRRRPRYRK
1460 1470 1480 1490 1500
RLRSSSSSLS SSGAPSPKGK QKQMKLQPKN DQNTSVSHAR TSSPFSSPVS
1510 1520 1530 1540 1550
DAAEGLSLYL LDDEPDGPFS SSSFGGYSRS GNSHDPGKAK SFRNRVLPVK
1560 1570 1580 1590 1600
QDHSLDGPLT NGDGREPRTG IKRKLLSASE EDENMGGEDK EKKETKEKSH
1610 1620 1630 1640 1650
LSTSESGELG SSLSSESTCG SDSDSESTSR TDQDYVDGDH DYSKFIQTRP
1660 1670 1680 1690 1700
KRKLRKQHGN GKRNWKTRGT GGRGRWGRWG RWSRGGRGRG GRGRGSRGRG
1710 1720 1730 1740 1750
GGGTRGRGRG RGGRGASRGA TRAKRARIAD DEFDTMFSGR FSRLPRIKTR
1760 1770 1780 1790 1800
NQGRRTVLYN DDSDNDNFVS TEDPLNLGTS RSGRVRKMTE KARVSHLMGW

NY
Length:1,802
Mass (Da):203,598
Last modified:November 30, 2010 - v2
Checksum:i8AA086ABFDCBA2C9
GO
Isoform 2 (identifier: Q6RI45-2) [UniParc]FASTAAdd to basket
Also known as: BRWD3-B

The sequence of this isoform differs from the canonical sequence as follows:
     1-171: Missing.

Show »
Length:1,631
Mass (Da):184,485
Checksum:iF7AC8B9608C0B2A9
GO
Isoform 3 (identifier: Q6RI45-3) [UniParc]FASTAAdd to basket
Also known as: BRWD3-C, BRWD3-D, BRWD3-E, BRWD3-F, BRWD3-G, BRWD3-L, BRWD3-M, BRWD3-N, BRWD3-O

The sequence of this isoform differs from the canonical sequence as follows:
     1-404: Missing.

Show »
Length:1,398
Mass (Da):158,529
Checksum:i2897D71915E102BD
GO
Isoform 4 (identifier: Q6RI45-4) [UniParc]FASTAAdd to basket
Also known as: BRWD3-H, BRWD3-I, BRWD3-K, BRWD3-P

The sequence of this isoform differs from the canonical sequence as follows:
     1-330: Missing.

Show »
Length:1,472
Mass (Da):166,977
Checksum:iFC57697514C87C5C
GO
Isoform 5 (identifier: Q6RI45-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1385-1386: GS → DL
     1387-1802: Missing.

Note: No experimental confirmation available.
Show »
Length:1,386
Mass (Da):157,335
Checksum:i936B9BFE5FB91B64
GO

Sequence cautioni

The sequence BAC04641 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0314911288K → R.2 PublicationsCorresponds to variant rs3122407dbSNPEnsembl.1
Natural variantiVAR_0369401596K → E in MRX93; may be a rare polymorphism. 1 PublicationCorresponds to variant rs137853272dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0243031 – 404Missing in isoform 3. 1 PublicationAdd BLAST404
Alternative sequenceiVSP_0243041 – 330Missing in isoform 4. 1 PublicationAdd BLAST330
Alternative sequenceiVSP_0243051 – 171Missing in isoform 2. 1 PublicationAdd BLAST171
Alternative sequenceiVSP_0243061385 – 1386GS → DL in isoform 5. 1 Publication2
Alternative sequenceiVSP_0243071387 – 1802Missing in isoform 5. 1 PublicationAdd BLAST416

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY497046 mRNA. Translation: AAS45471.1.
AY497047 mRNA. Translation: AAS45472.1.
AY497048 mRNA. Translation: AAS45473.1.
AY497049 mRNA. Translation: AAS45474.1.
AY497050 mRNA. Translation: AAS45475.1.
AY497051 mRNA. Translation: AAS45476.1.
AY497052 mRNA. Translation: AAS45477.1.
AY497053 mRNA. Translation: AAS45478.1.
AY497054 mRNA. Translation: AAS45479.1.
AY497055 mRNA. Translation: AAS45480.1.
AY497056 mRNA. Translation: AAS45481.1.
AY497057 mRNA. Translation: AAS45482.1.
AY497058 mRNA. Translation: AAS45483.1.
AY497059 mRNA. Translation: AAS45484.1.
AY497060 mRNA. Translation: AAS45485.1.
AL590031, AL512504, AL669934 Genomic DNA. Translation: CAI39936.2.
AL512504, AL590031, AL669934 Genomic DNA. Translation: CAI95143.1.
AL669934, AL512504, AL590031 Genomic DNA. Translation: CAI95405.1.
BC111490 mRNA. Translation: AAI11491.1.
AK095887 mRNA. Translation: BAC04641.1. Different initiation.
CCDSiCCDS14447.1. [Q6RI45-1]
RefSeqiNP_694984.4. NM_153252.4.
XP_016884873.1. XM_017029384.1. [Q6RI45-3]
UniGeneiHs.147027.
Hs.613180.

Genome annotation databases

EnsembliENST00000373275; ENSP00000362372; ENSG00000165288. [Q6RI45-1]
GeneIDi254065.
KEGGihsa:254065.
UCSCiuc004edt.4. human. [Q6RI45-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY497046 mRNA. Translation: AAS45471.1.
AY497047 mRNA. Translation: AAS45472.1.
AY497048 mRNA. Translation: AAS45473.1.
AY497049 mRNA. Translation: AAS45474.1.
AY497050 mRNA. Translation: AAS45475.1.
AY497051 mRNA. Translation: AAS45476.1.
AY497052 mRNA. Translation: AAS45477.1.
AY497053 mRNA. Translation: AAS45478.1.
AY497054 mRNA. Translation: AAS45479.1.
AY497055 mRNA. Translation: AAS45480.1.
AY497056 mRNA. Translation: AAS45481.1.
AY497057 mRNA. Translation: AAS45482.1.
AY497058 mRNA. Translation: AAS45483.1.
AY497059 mRNA. Translation: AAS45484.1.
AY497060 mRNA. Translation: AAS45485.1.
AL590031, AL512504, AL669934 Genomic DNA. Translation: CAI39936.2.
AL512504, AL590031, AL669934 Genomic DNA. Translation: CAI95143.1.
AL669934, AL512504, AL590031 Genomic DNA. Translation: CAI95405.1.
BC111490 mRNA. Translation: AAI11491.1.
AK095887 mRNA. Translation: BAC04641.1. Different initiation.
CCDSiCCDS14447.1. [Q6RI45-1]
RefSeqiNP_694984.4. NM_153252.4.
XP_016884873.1. XM_017029384.1. [Q6RI45-3]
UniGeneiHs.147027.
Hs.613180.

3D structure databases

ProteinModelPortaliQ6RI45.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129012. 8 interactors.
IntActiQ6RI45. 7 interactors.
STRINGi9606.ENSP00000362372.

PTM databases

iPTMnetiQ6RI45.
PhosphoSitePlusiQ6RI45.

Polymorphism and mutation databases

BioMutaiBRWD3.
DMDMi313104082.

Proteomic databases

EPDiQ6RI45.
MaxQBiQ6RI45.
PaxDbiQ6RI45.
PeptideAtlasiQ6RI45.
PRIDEiQ6RI45.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373275; ENSP00000362372; ENSG00000165288. [Q6RI45-1]
GeneIDi254065.
KEGGihsa:254065.
UCSCiuc004edt.4. human. [Q6RI45-1]

Organism-specific databases

CTDi254065.
DisGeNETi254065.
GeneCardsiBRWD3.
HGNCiHGNC:17342. BRWD3.
HPAiHPA012802.
MIMi300553. gene.
300659. phenotype.
neXtProtiNX_Q6RI45.
OpenTargetsiENSG00000165288.
Orphaneti323. FG syndrome.
PharmGKBiPA134900775.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IRXR. Eukaryota.
COG2319. LUCA.
GeneTreeiENSGT00720000108687.
HOVERGENiHBG108248.
InParanoidiQ6RI45.
KOiK11798.
OMAiTRSNIDH.
OrthoDBiEOG091G00HZ.
PhylomeDBiQ6RI45.
TreeFamiTF324197.

Enzyme and pathway databases

SignaLinkiQ6RI45.

Miscellaneous databases

GeneWikiiBRWD3.
GenomeRNAii254065.
PROiQ6RI45.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165288.
CleanExiHS_BRWD3.
GenevisibleiQ6RI45. HS.

Family and domain databases

Gene3Di1.20.920.10. 2 hits.
2.130.10.10. 2 hits.
InterProiIPR001487. Bromodomain.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00439. Bromodomain. 2 hits.
PF00400. WD40. 5 hits.
[Graphical view]
PRINTSiPR00503. BROMODOMAIN.
SMARTiSM00297. BROMO. 2 hits.
SM00320. WD40. 8 hits.
[Graphical view]
SUPFAMiSSF47370. SSF47370. 2 hits.
SSF50978. SSF50978. 1 hit.
PROSITEiPS50014. BROMODOMAIN_2. 2 hits.
PS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 5 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBRWD3_HUMAN
AccessioniPrimary (citable) accession number: Q6RI45
Secondary accession number(s): C9IZ39
, C9J3F3, Q2T9J6, Q5JRN1, Q6RI37, Q6RI42, Q6RI44, Q8N916
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: November 30, 2010
Last modified: November 2, 2016
This is version 111 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

The translocation involving this gene was originally published as t(X;11)(q13;23), but BRWD3 is localized to Xq21 and not to Xq13.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.