Q6RI45 (BRWD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Bromodomain and WD repeat-containing protein 3

Gene names

Name:

BRWD3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1802 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. Ref.6
Tissue specificity	Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined. Ref.1
Developmental stage	Expressed in fetal liver.
Involvement in disease	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) [MIM:300659]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8
Sequence similarities	Contains 2 bromo domains. Contains 9 WD repeats.
Caution	The translocation involving this gene was originally published as t(X;11)(q13;23) (Ref.1), but BRWD3 is localized to Xq21 and not to Xq13.
Sequence caution	The sequence BAC04641.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Disease mutation Mental retardation
Domain	Bromodomain Repeat WD repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cytoskeleton organization Inferred from mutant phenotype Ref.6. Source: UniProtKB regulation of cell shape Inferred from mutant phenotype Ref.6. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q6RI45-1)

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.

Isoform 2 (identifier: Q6RI45-2)

Also known as: BRWD3-B;

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

Isoform 3 (identifier: Q6RI45-3)

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.

Isoform 4 (identifier: Q6RI45-4)

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.

Isoform 5 (identifier: Q6RI45-5)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1802	1802	Bromodomain and WD repeat-containing protein 3		PRO_0000283089
Regions
	Repeat	86 – 127	42	WD 1
	Repeat	178 – 219	42	WD 2
	Repeat	221 – 259	39	WD 3
	Repeat	262 – 305	44	WD 4
	Repeat	316 – 355	40	WD 5
	Repeat	360 – 401	42	WD 6
	Repeat	421 – 460	40	WD 7
	Repeat	463 – 503	41	WD 8
	Repeat	511 – 550	40	WD 9
	Domain	1158 – 1228	71	Bromo 1
	Domain	1317 – 1412	96	Bromo 2
	Compositional bias	1659 – 1719	61	Gly-rich
Amino acid modifications
	Modified residue	703	1	Phosphoserine Ref.5
	Modified residue	1577	1	Phosphoserine Ref.5
	Modified residue	1579	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	1 – 404	404	Missing in isoform 3.		VSP_024303
	Alternative sequence	1 – 330	330	Missing in isoform 4.		VSP_024304
	Alternative sequence	1 – 171	171	Missing in isoform 2.		VSP_024305
	Alternative sequence	1385 – 1386	2	GS → DL in isoform 5.		VSP_024306
	Alternative sequence	1387 – 1802	416	Missing in isoform 5.		VSP_024307
	Natural variant	1288	1	K → R. Ref.1 Ref.4 Corresponds to variant rs3122407 [ dbSNP | Ensembl ].		VAR_031491
	Natural variant	1596	1	K → E in MRX93; may be a rare polymorphism. Ref.8		VAR_036940

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (BRWD3-A) [UniParc]. Last modified November 30, 2010. Version 2. Checksum: 8AA086ABFDCBA2C9	FASTA	1,802	203,598
	10 20 30 40 50 60 MAAAPTQIEA ELYYLIARFL QSGPCNKSAQ VLVQELEEHQ LIPRRLDWEG KEHRRSFEDL 70 80 90 100 110 120 VAANAHIPPD YLLKICERIG PLLDKEIPQS VPGVQTLLGV GRQSLLRDAK DCKSTLWNGS 130 140 150 160 170 180 AFAALHRGRP PELPVNYVKP PNVVNITSAR QLTGCSRFGH IFPSSAYQHI KMHKRILGHL 190 200 210 220 230 240 SSVYCVAFDR SGRRIFTGSD DCLVKIWATD DGRLLATLRG HSAEISDMAV NYENTLIAAG 250 260 270 280 290 300 SCDKVVRVWC LRTCAPVAVL QGHSASITSI QFCPSTKGTN RYLTSTGADG TICFWQWHVK 310 320 330 340 350 360 TMKFRDRPVK FTERSRPGVQ ISCSSFSSGG MFITTGSTDH VIRIYYLGSE VPEKIAELES 370 380 390 400 410 420 HTDKVVAVQF CNNGDSLRFV SGSRDGTARI WQYQQQEWKS IVLDMATKMT GNNLPSGEDK 430 440 450 460 470 480 ITKLKVTMVA WDRYDTTVIT AVNNFLLKVW NSITGQLLHT LSGHDDEVFV LEAHPFDQRI 490 500 510 520 530 540 ILSAGHDGNI FIWDLDRGTK IRNYFNMIEG QGHGAVFDCK FSPDGNHFAC TDSHGHLLLF 550 560 570 580 590 600 GFGCSKYYEK IPDQMFFHTD YRPLIRDANN YVLDEQTQQA PHLMPPPFLV DVDGNPHPTK 610 620 630 640 650 660 FQRLVPGREN CKDEQLIPQL GYVANGDGEV VEQVIGQQTN DQDESILDGI IRELQREQDL 670 680 690 700 710 720 RLINEGDVPH LPVNRAYSVN GALRSPNMDI SSSPNIRLRR HSSQIEGVRQ MHNNAPRSQM 730 740 750 760 770 780 ATERDLMAWS RRVVVNELNN GVSRVQEECR TAKGDIEISL YTVEKKKKPS YTTQRNDYEP 790 800 810 820 830 840 SCGRSLRRTQ RKRQHTYQTR SNIEHNSQAS CQNSGVQEDS DSSSEEDETV GTSDASVEDP 850 860 870 880 890 900 VVEWQSESSS SDSSSEYSDW TADAGINLQP PKRQTRQTTR KICSSSDEEN LKSLEERQKK 910 920 930 940 950 960 PKQTRKKKGG LVSIAGEPNE EWFAPQWILD TIPRRSPFVP QMGDELIYFR QGHEAYVRAV 970 980 990 1000 1010 1020 RKSKIYSVNL QKQPWNKMDL REQEFVKIVG IKYEVGPPTL CCLKLAFLDP ISGKMTGESF 1030 1040 1050 1060 1070 1080 SIKYHDMPDV IDFLVLHQFY NEAKERNWQI GDRFRSIIDD AWWFGTVESQ QPFQPEYPDS 1090 1100 1110 1120 1130 1140 SFQCYSVHWD NNEREKMSPW DMEPIPEGTA FPDEVGAGVP VSQEELTALL YKPQEGEWGA 1150 1160 1170 1180 1190 1200 HSRDEECERV IQGINHLLSL DFASPFAVPV DLSAYPLYCT VVAYPTDLNT IRRRLENRFY 1210 1220 1230 1240 1250 1260 RRISALMWEV RYIEHNARTF NEPDSPIVKA AKIVTDVLLR FIGDQSCTDI LDTYNKIKAE 1270 1280 1290 1300 1310 1320 ERNSTDAEED TEIVDLDSDG PGTSSGRKVK CRGRRQSLKC NPDAWKKQCK ELLSLIYERE 1330 1340 1350 1360 1370 1380 DSEPFRQPAD LLSYPGHQEQ EGESSESVVP ERQQDSSLSE DYQDVIDTPV DFSTVKETLE 1390 1400 1410 1420 1430 1440 AGNYGSPLEF YKDVRQIFNN SKAYTSNKKS RIYSMMLRLS ALFESHIKNI ISEYKSAIQS 1450 1460 1470 1480 1490 1500 QKRRRPRYRK RLRSSSSSLS SSGAPSPKGK QKQMKLQPKN DQNTSVSHAR TSSPFSSPVS 1510 1520 1530 1540 1550 1560 DAAEGLSLYL LDDEPDGPFS SSSFGGYSRS GNSHDPGKAK SFRNRVLPVK QDHSLDGPLT 1570 1580 1590 1600 1610 1620 NGDGREPRTG IKRKLLSASE EDENMGGEDK EKKETKEKSH LSTSESGELG SSLSSESTCG 1630 1640 1650 1660 1670 1680 SDSDSESTSR TDQDYVDGDH DYSKFIQTRP KRKLRKQHGN GKRNWKTRGT GGRGRWGRWG 1690 1700 1710 1720 1730 1740 RWSRGGRGRG GRGRGSRGRG GGGTRGRGRG RGGRGASRGA TRAKRARIAD DEFDTMFSGR 1750 1760 1770 1780 1790 1800 FSRLPRIKTR NQGRRTVLYN DDSDNDNFVS TEDPLNLGTS RSGRVRKMTE KARVSHLMGW NY
	Isoform 2 (BRWD3-B) [UniParc]. Checksum: F7AC8B9608C0B2A9	FASTA	1,631	184,485
	10 20 30 40 50 60 MHKRILGHLS SVYCVAFDRS GRRIFTGSDD CLVKIWATDD GRLLATLRGH SAEISDMAVN 70 80 90 100 110 120 YENTLIAAGS CDKVVRVWCL RTCAPVAVLQ GHSASITSIQ FCPSTKGTNR YLTSTGADGT 130 140 150 160 170 180 ICFWQWHVKT MKFRDRPVKF TERSRPGVQI SCSSFSSGGM FITTGSTDHV IRIYYLGSEV 190 200 210 220 230 240 PEKIAELESH TDKVVAVQFC NNGDSLRFVS GSRDGTARIW QYQQQEWKSI VLDMATKMTG 250 260 270 280 290 300 NNLPSGEDKI TKLKVTMVAW DRYDTTVITA VNNFLLKVWN SITGQLLHTL SGHDDEVFVL 310 320 330 340 350 360 EAHPFDQRII LSAGHDGNIF IWDLDRGTKI RNYFNMIEGQ GHGAVFDCKF SPDGNHFACT 370 380 390 400 410 420 DSHGHLLLFG FGCSKYYEKI PDQMFFHTDY RPLIRDANNY VLDEQTQQAP HLMPPPFLVD 430 440 450 460 470 480 VDGNPHPTKF QRLVPGRENC KDEQLIPQLG YVANGDGEVV EQVIGQQTND QDESILDGII 490 500 510 520 530 540 RELQREQDLR LINEGDVPHL PVNRAYSVNG ALRSPNMDIS SSPNIRLRRH SSQIEGVRQM 550 560 570 580 590 600 HNNAPRSQMA TERDLMAWSR RVVVNELNNG VSRVQEECRT AKGDIEISLY TVEKKKKPSY 610 620 630 640 650 660 TTQRNDYEPS CGRSLRRTQR KRQHTYQTRS NIEHNSQASC QNSGVQEDSD SSSEEDETVG 670 680 690 700 710 720 TSDASVEDPV VEWQSESSSS DSSSEYSDWT ADAGINLQPP KRQTRQTTRK ICSSSDEENL 730 740 750 760 770 780 KSLEERQKKP KQTRKKKGGL VSIAGEPNEE WFAPQWILDT IPRRSPFVPQ MGDELIYFRQ 790 800 810 820 830 840 GHEAYVRAVR KSKIYSVNLQ KQPWNKMDLR EQEFVKIVGI KYEVGPPTLC CLKLAFLDPI 850 860 870 880 890 900 SGKMTGESFS IKYHDMPDVI DFLVLHQFYN EAKERNWQIG DRFRSIIDDA WWFGTVESQQ 910 920 930 940 950 960 PFQPEYPDSS FQCYSVHWDN NEREKMSPWD MEPIPEGTAF PDEVGAGVPV SQEELTALLY 970 980 990 1000 1010 1020 KPQEGEWGAH SRDEECERVI QGINHLLSLD FASPFAVPVD LSAYPLYCTV VAYPTDLNTI 1030 1040 1050 1060 1070 1080 RRRLENRFYR RISALMWEVR YIEHNARTFN EPDSPIVKAA KIVTDVLLRF IGDQSCTDIL 1090 1100 1110 1120 1130 1140 DTYNKIKAEE RNSTDAEEDT EIVDLDSDGP GTSSGRKVKC RGRRQSLKCN PDAWKKQCKE 1150 1160 1170 1180 1190 1200 LLSLIYERED SEPFRQPADL LSYPGHQEQE GESSESVVPE RQQDSSLSED YQDVIDTPVD 1210 1220 1230 1240 1250 1260 FSTVKETLEA GNYGSPLEFY KDVRQIFNNS KAYTSNKKSR IYSMMLRLSA LFESHIKNII 1270 1280 1290 1300 1310 1320 SEYKSAIQSQ KRRRPRYRKR LRSSSSSLSS SGAPSPKGKQ KQMKLQPKND QNTSVSHART 1330 1340 1350 1360 1370 1380 SSPFSSPVSD AAEGLSLYLL DDEPDGPFSS SSFGGYSRSG NSHDPGKAKS FRNRVLPVKQ 1390 1400 1410 1420 1430 1440 DHSLDGPLTN GDGREPRTGI KRKLLSASEE DENMGGEDKE KKETKEKSHL STSESGELGS 1450 1460 1470 1480 1490 1500 SLSSESTCGS DSDSESTSRT DQDYVDGDHD YSKFIQTRPK RKLRKQHGNG KRNWKTRGTG 1510 1520 1530 1540 1550 1560 GRGRWGRWGR WSRGGRGRGG RGRGSRGRGG GGTRGRGRGR GGRGASRGAT RAKRARIADD 1570 1580 1590 1600 1610 1620 EFDTMFSGRF SRLPRIKTRN QGRRTVLYND DSDNDNFVST EDPLNLGTSR SGRVRKMTEK 1630 ARVSHLMGWN Y
	Isoform 3 (BRWD3-C) (BRWD3-D) (BRWD3-E) (BRWD3-F) (BRWD3-G) (BRWD3-L) (BRWD3-M) (BRWD3-N) (BRWD3-O) [UniParc]. Checksum: 2897D71915E102BD	FASTA	1,398	158,529
	10 20 30 40 50 60 MATKMTGNNL PSGEDKITKL KVTMVAWDRY DTTVITAVNN FLLKVWNSIT GQLLHTLSGH 70 80 90 100 110 120 DDEVFVLEAH PFDQRIILSA GHDGNIFIWD LDRGTKIRNY FNMIEGQGHG AVFDCKFSPD 130 140 150 160 170 180 GNHFACTDSH GHLLLFGFGC SKYYEKIPDQ MFFHTDYRPL IRDANNYVLD EQTQQAPHLM 190 200 210 220 230 240 PPPFLVDVDG NPHPTKFQRL VPGRENCKDE QLIPQLGYVA NGDGEVVEQV IGQQTNDQDE 250 260 270 280 290 300 SILDGIIREL QREQDLRLIN EGDVPHLPVN RAYSVNGALR SPNMDISSSP NIRLRRHSSQ 310 320 330 340 350 360 IEGVRQMHNN APRSQMATER DLMAWSRRVV VNELNNGVSR VQEECRTAKG DIEISLYTVE 370 380 390 400 410 420 KKKKPSYTTQ RNDYEPSCGR SLRRTQRKRQ HTYQTRSNIE HNSQASCQNS GVQEDSDSSS 430 440 450 460 470 480 EEDETVGTSD ASVEDPVVEW QSESSSSDSS SEYSDWTADA GINLQPPKRQ TRQTTRKICS 490 500 510 520 530 540 SSDEENLKSL EERQKKPKQT RKKKGGLVSI AGEPNEEWFA PQWILDTIPR RSPFVPQMGD 550 560 570 580 590 600 ELIYFRQGHE AYVRAVRKSK IYSVNLQKQP WNKMDLREQE FVKIVGIKYE VGPPTLCCLK 610 620 630 640 650 660 LAFLDPISGK MTGESFSIKY HDMPDVIDFL VLHQFYNEAK ERNWQIGDRF RSIIDDAWWF 670 680 690 700 710 720 GTVESQQPFQ PEYPDSSFQC YSVHWDNNER EKMSPWDMEP IPEGTAFPDE VGAGVPVSQE 730 740 750 760 770 780 ELTALLYKPQ EGEWGAHSRD EECERVIQGI NHLLSLDFAS PFAVPVDLSA YPLYCTVVAY 790 800 810 820 830 840 PTDLNTIRRR LENRFYRRIS ALMWEVRYIE HNARTFNEPD SPIVKAAKIV TDVLLRFIGD 850 860 870 880 890 900 QSCTDILDTY NKIKAEERNS TDAEEDTEIV DLDSDGPGTS SGRKVKCRGR RQSLKCNPDA 910 920 930 940 950 960 WKKQCKELLS LIYEREDSEP FRQPADLLSY PGHQEQEGES SESVVPERQQ DSSLSEDYQD 970 980 990 1000 1010 1020 VIDTPVDFST VKETLEAGNY GSPLEFYKDV RQIFNNSKAY TSNKKSRIYS MMLRLSALFE 1030 1040 1050 1060 1070 1080 SHIKNIISEY KSAIQSQKRR RPRYRKRLRS SSSSLSSSGA PSPKGKQKQM KLQPKNDQNT 1090 1100 1110 1120 1130 1140 SVSHARTSSP FSSPVSDAAE GLSLYLLDDE PDGPFSSSSF GGYSRSGNSH DPGKAKSFRN 1150 1160 1170 1180 1190 1200 RVLPVKQDHS LDGPLTNGDG REPRTGIKRK LLSASEEDEN MGGEDKEKKE TKEKSHLSTS 1210 1220 1230 1240 1250 1260 ESGELGSSLS SESTCGSDSD SESTSRTDQD YVDGDHDYSK FIQTRPKRKL RKQHGNGKRN 1270 1280 1290 1300 1310 1320 WKTRGTGGRG RWGRWGRWSR GGRGRGGRGR GSRGRGGGGT RGRGRGRGGR GASRGATRAK 1330 1340 1350 1360 1370 1380 RARIADDEFD TMFSGRFSRL PRIKTRNQGR RTVLYNDDSD NDNFVSTEDP LNLGTSRSGR 1390 VRKMTEKARV SHLMGWNY
	Isoform 4 (BRWD3-H) (BRWD3-I) (BRWD3-K) (BRWD3-P) [UniParc]. Checksum: FC57697514C87C5C	FASTA	1,472	166,977
	10 20 30 40 50 60 MFITTGSTDH VIRIYYLGSE VPEKIAELES HTDKVVAVQF CNNGDSLRFV SGSRDGTARI 70 80 90 100 110 120 WQYQQQEWKS IVLDMATKMT GNNLPSGEDK ITKLKVTMVA WDRYDTTVIT AVNNFLLKVW 130 140 150 160 170 180 NSITGQLLHT LSGHDDEVFV LEAHPFDQRI ILSAGHDGNI FIWDLDRGTK IRNYFNMIEG 190 200 210 220 230 240 QGHGAVFDCK FSPDGNHFAC TDSHGHLLLF GFGCSKYYEK IPDQMFFHTD YRPLIRDANN 250 260 270 280 290 300 YVLDEQTQQA PHLMPPPFLV DVDGNPHPTK FQRLVPGREN CKDEQLIPQL GYVANGDGEV 310 320 330 340 350 360 VEQVIGQQTN DQDESILDGI IRELQREQDL RLINEGDVPH LPVNRAYSVN GALRSPNMDI 370 380 390 400 410 420 SSSPNIRLRR HSSQIEGVRQ MHNNAPRSQM ATERDLMAWS RRVVVNELNN GVSRVQEECR 430 440 450 460 470 480 TAKGDIEISL YTVEKKKKPS YTTQRNDYEP SCGRSLRRTQ RKRQHTYQTR SNIEHNSQAS 490 500 510 520 530 540 CQNSGVQEDS DSSSEEDETV GTSDASVEDP VVEWQSESSS SDSSSEYSDW TADAGINLQP 550 560 570 580 590 600 PKRQTRQTTR KICSSSDEEN LKSLEERQKK PKQTRKKKGG LVSIAGEPNE EWFAPQWILD 610 620 630 640 650 660 TIPRRSPFVP QMGDELIYFR QGHEAYVRAV RKSKIYSVNL QKQPWNKMDL REQEFVKIVG 670 680 690 700 710 720 IKYEVGPPTL CCLKLAFLDP ISGKMTGESF SIKYHDMPDV IDFLVLHQFY NEAKERNWQI 730 740 750 760 770 780 GDRFRSIIDD AWWFGTVESQ QPFQPEYPDS SFQCYSVHWD NNEREKMSPW DMEPIPEGTA 790 800 810 820 830 840 FPDEVGAGVP VSQEELTALL YKPQEGEWGA HSRDEECERV IQGINHLLSL DFASPFAVPV 850 860 870 880 890 900 DLSAYPLYCT VVAYPTDLNT IRRRLENRFY RRISALMWEV RYIEHNARTF NEPDSPIVKA 910 920 930 940 950 960 AKIVTDVLLR FIGDQSCTDI LDTYNKIKAE ERNSTDAEED TEIVDLDSDG PGTSSGRKVK 970 980 990 1000 1010 1020 CRGRRQSLKC NPDAWKKQCK ELLSLIYERE DSEPFRQPAD LLSYPGHQEQ EGESSESVVP 1030 1040 1050 1060 1070 1080 ERQQDSSLSE DYQDVIDTPV DFSTVKETLE AGNYGSPLEF YKDVRQIFNN SKAYTSNKKS 1090 1100 1110 1120 1130 1140 RIYSMMLRLS ALFESHIKNI ISEYKSAIQS QKRRRPRYRK RLRSSSSSLS SSGAPSPKGK 1150 1160 1170 1180 1190 1200 QKQMKLQPKN DQNTSVSHAR TSSPFSSPVS DAAEGLSLYL LDDEPDGPFS SSSFGGYSRS 1210 1220 1230 1240 1250 1260 GNSHDPGKAK SFRNRVLPVK QDHSLDGPLT NGDGREPRTG IKRKLLSASE EDENMGGEDK 1270 1280 1290 1300 1310 1320 EKKETKEKSH LSTSESGELG SSLSSESTCG SDSDSESTSR TDQDYVDGDH DYSKFIQTRP 1330 1340 1350 1360 1370 1380 KRKLRKQHGN GKRNWKTRGT GGRGRWGRWG RWSRGGRGRG GRGRGSRGRG GGGTRGRGRG 1390 1400 1410 1420 1430 1440 RGGRGASRGA TRAKRARIAD DEFDTMFSGR FSRLPRIKTR NQGRRTVLYN DDSDNDNFVS 1450 1460 1470 TEDPLNLGTS RSGRVRKMTE KARVSHLMGW NY
	Isoform 5 [UniParc]. Checksum: 936B9BFE5FB91B64	FASTA	1,386	157,335
	10 20 30 40 50 60 MAAAPTQIEA ELYYLIARFL QSGPCNKSAQ VLVQELEEHQ LIPRRLDWEG KEHRRSFEDL 70 80 90 100 110 120 VAANAHIPPD YLLKICERIG PLLDKEIPQS VPGVQTLLGV GRQSLLRDAK DCKSTLWNGS 130 140 150 160 170 180 AFAALHRGRP PELPVNYVKP PNVVNITSAR QLTGCSRFGH IFPSSAYQHI KMHKRILGHL 190 200 210 220 230 240 SSVYCVAFDR SGRRIFTGSD DCLVKIWATD DGRLLATLRG HSAEISDMAV NYENTLIAAG 250 260 270 280 290 300 SCDKVVRVWC LRTCAPVAVL QGHSASITSI QFCPSTKGTN RYLTSTGADG TICFWQWHVK 310 320 330 340 350 360 TMKFRDRPVK FTERSRPGVQ ISCSSFSSGG MFITTGSTDH VIRIYYLGSE VPEKIAELES 370 380 390 400 410 420 HTDKVVAVQF CNNGDSLRFV SGSRDGTARI WQYQQQEWKS IVLDMATKMT GNNLPSGEDK 430 440 450 460 470 480 ITKLKVTMVA WDRYDTTVIT AVNNFLLKVW NSITGQLLHT LSGHDDEVFV LEAHPFDQRI 490 500 510 520 530 540 ILSAGHDGNI FIWDLDRGTK IRNYFNMIEG QGHGAVFDCK FSPDGNHFAC TDSHGHLLLF 550 560 570 580 590 600 GFGCSKYYEK IPDQMFFHTD YRPLIRDANN YVLDEQTQQA PHLMPPPFLV DVDGNPHPTK 610 620 630 640 650 660 FQRLVPGREN CKDEQLIPQL GYVANGDGEV VEQVIGQQTN DQDESILDGI IRELQREQDL 670 680 690 700 710 720 RLINEGDVPH LPVNRAYSVN GALRSPNMDI SSSPNIRLRR HSSQIEGVRQ MHNNAPRSQM 730 740 750 760 770 780 ATERDLMAWS RRVVVNELNN GVSRVQEECR TAKGDIEISL YTVEKKKKPS YTTQRNDYEP 790 800 810 820 830 840 SCGRSLRRTQ RKRQHTYQTR SNIEHNSQAS CQNSGVQEDS DSSSEEDETV GTSDASVEDP 850 860 870 880 890 900 VVEWQSESSS SDSSSEYSDW TADAGINLQP PKRQTRQTTR KICSSSDEEN LKSLEERQKK 910 920 930 940 950 960 PKQTRKKKGG LVSIAGEPNE EWFAPQWILD TIPRRSPFVP QMGDELIYFR QGHEAYVRAV 970 980 990 1000 1010 1020 RKSKIYSVNL QKQPWNKMDL REQEFVKIVG IKYEVGPPTL CCLKLAFLDP ISGKMTGESF 1030 1040 1050 1060 1070 1080 SIKYHDMPDV IDFLVLHQFY NEAKERNWQI GDRFRSIIDD AWWFGTVESQ QPFQPEYPDS 1090 1100 1110 1120 1130 1140 SFQCYSVHWD NNEREKMSPW DMEPIPEGTA FPDEVGAGVP VSQEELTALL YKPQEGEWGA 1150 1160 1170 1180 1190 1200 HSRDEECERV IQGINHLLSL DFASPFAVPV DLSAYPLYCT VVAYPTDLNT IRRRLENRFY 1210 1220 1230 1240 1250 1260 RRISALMWEV RYIEHNARTF NEPDSPIVKA AKIVTDVLLR FIGDQSCTDI LDTYNKIKAE 1270 1280 1290 1300 1310 1320 ERNSTDAEED TEIVDLDSDG PGTSSGRKVK CRGRRQSLKC NPDAWKKQCK ELLSLIYERE 1330 1340 1350 1360 1370 1380 DSEPFRQPAD LLSYPGHQEQ EGESSESVVP ERQQDSSLSE DYQDVIDTPV DFSTVKETLE AGNYDL

References

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[1]	"Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes." Kalla C., Nentwich H., Schlotter M., Mertens D., Wildenberger K., Doehner H., Stilgenbauer S., Lichter P. Genes Chromosomes Cancer 42:128-143(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION WITH ARHGAP20, VARIANT ARG-1288.
[2]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-768 (ISOFORM 1). Tissue: Lymph.
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 623-1802 (ISOFORM 5), VARIANT ARG-1288.
[5]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-703 AND SER-1577, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration." Bai S.W., Herrera-Abreu M.T., Rohn J.L., Racine V., Tajadura V., Suryavanshi N., Bechtel S., Wiemann S., Baum B., Ridley A.J. BMC Biol. 9:54-54(2011) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[7]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1579, MASS SPECTROMETRY.
[8]	"Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly." Field M., Tarpey P.S., Smith R., Edkins S., O'Meara S., Stevens C., Tofts C., Teague J., Butler A., Dicks E., Barthorpe S., Buck G., Cole J., Gray K., Halliday K., Hills K., Jenkinson A., Jones D. , Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Varian J., West S., Widaa S., Mallya U., Wooster R., Moon J., Luo Y., Hughes H., Shaw M., Friend K.L., Corbett M., Turner G., Partington M., Mulley J., Bobrow M., Schwartz C., Stevenson R., Gecz J., Stratton M.R., Futreal P.A., Raymond F.L. Am. J. Hum. Genet. 81:367-374(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MRX93 GLU-1596.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00167547. IPI00843754. IPI00844073. IPI00844236. IPI00844349.
RefSeq	NP_694984.4. NM_153252.4.
UniGene	Hs.147027. Hs.613180.
3D structure databases
ProteinModelPortal	Q6RI45.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6RI45. 2 interactions.
STRING	9606.ENSP00000362372.
PTM databases
PhosphoSite	Q6RI45.
Proteomic databases
PaxDb	Q6RI45.
PRIDE	Q6RI45.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000373275; ENSP00000362372; ENSG00000165288.
GeneID	254065.
KEGG	hsa:254065.
UCSC	uc004edo.3. human.
Organism-specific databases
CTD	254065.
GeneCards	GC0XM079926.
HGNC	HGNC:17342. BRWD3.
HPA	HPA012802.
MIM	300553. gene. 300659. phenotype.
neXtProt	NX_Q6RI45.
Orphanet	323. FG syndrome.
PharmGKB	PA134900775.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2319.
HOVERGEN	HBG108248.
InParanoid	Q6RI45.
KO	K11798.
OMA	MTGNNLP.
OrthoDB	EOG4X3H0H.
Enzyme and pathway databases
SignaLink	Q6RI45.
Gene expression databases
Bgee	Q6RI45.
CleanEx	HS_BRWD3.
Genevestigator	Q6RI45.
Family and domain databases
Gene3D	1.20.920.10. 2 hits. 2.130.10.10. 2 hits.
InterPro	IPR001487. Bromodomain. IPR011044. Quino_amine_DH_bsu. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. [Graphical view]
Pfam	PF00439. Bromodomain. 2 hits. PF00400. WD40. 6 hits. [Graphical view]
PRINTS	PR00503. BROMODOMAIN.
SMART	SM00297. BROMO. 2 hits. SM00320. WD40. 8 hits. [Graphical view]
SUPFAM	SSF50969. Amine_DH_B_like. 1 hit. SSF47370. Bromodomain. 2 hits.
PROSITE	PS00633. BROMODOMAIN_1. False negative. PS50014. BROMODOMAIN_2. 2 hits. PS00678. WD_REPEATS_1. 2 hits. PS50082. WD_REPEATS_2. 5 hits. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	254065.
NextBio	92253.
SOURCE	Search...

Entry information

Entry name

BRWD3_HUMAN

Accession

Primary (citable) accession number: Q6RI45
Secondary accession number(s): C9IZ39 , C9J3F3, Q2T9J6, Q5JRN1, Q6RI37, Q6RI42, Q6RI44, Q8N916

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 3, 2007
Last sequence update:	November 30, 2010
Last modified:	May 29, 2013
This is version 81 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.