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Results for the Protein: P51532
116242792

SMCA4_HUMAN RecName: Full=Transcription activator BRG1; AltName: Full=ATP-dependent helicase SMARCA4; AltName: Full=BRG1-associated factor 190A; Short=BAF190A; AltName: Full=Mitotic growth and transcription activator; AltName: Full=Protein BRG-1; AltName: Full=Protein brahma homolog 1; AltName: Full=SNF2-beta; AltName: Full=SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 16
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 16 (MRD16)
  RHABDOID TUMOR PREDISPOSITION SYNDROME 2
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2
6
0
7
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Default View:

QLQ - pfam08880
HepA - COG0553
HSA - smart00573
HSA - pfam07529
BRK - pfam07533
BRK - smart00592
DEXDc - smart00487
ResIII - pfam04851
SNF2_N - pfam00176
DEXDc - cd00046
HDA2-3 - pfam11496
HELICc - cd00079
HELICc - smart00490
Helicase_C - pfam00271
COG5076 - COG5076
Bromo_WDR9_I_like - cd05529
Bromo_polybromo_III - cd05520
Bromo_WDR9_II - cd05496
BROMO - smart00297
Bromo_cbp_like - cd05495
Bromo_Rsc1_2_II - cd05522
Bromo_SNF2L2 - cd05516
Bromo_Brdt_I_like - cd05497
Bromo_Rsc1_2_I - cd05521
Bromo_SNF2 - cd05519
Bromo_brd1_like - cd05512
Bromo_BDF1_2_I - cd05500
Bromodomain - cd04369
Bromo_polybromo_V - cd05515
Bromo_polybromo_II - cd05517
Bromo_polybromo_IV - cd05518
Bromo_ASH1 - cd05525
Bromo_WSTF_like - cd05505
Bromo_polybromo_I - cd05524
Bromo_BDF1_2_II - cd05499
Bromo_Brdt_II_like - cd05498
Bromo_TFIID - cd05511
Bromodomain - pfam00439
Bromo_Acf1_like - cd05504
Bromo_gcn5_like - cd05509
Bromo_AAA - cd05528
Bromo_brd7_like - cd05513
Bromo_BAZ2A_B_like - cd05503
Bromo_tif1_like - cd05502


Swiss-Prot Protein: P51532
Identical to: NP_001122316, NP_003063
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DEXDccd000461.5e-28773913
HELICccd000792.7e-2910681202
Bromo_WDR9_I_likecd055291.8e-0514041564
Bromo_polybromo_IIIcd055202.5e-1714521561
Bromo_WDR9_IIcd054967.4e-0514531566
Bromo_cbp_likecd054950.000114551566
Bromo_Rsc1_2_IIcd055221.6e-1014561561
Bromo_Brdt_I_likecd054970.0002714571567
Bromo_SNF2L2cd055161.2e-8414571564
Bromo_Rsc1_2_Icd055216.1e-1214571564
Bromodomaincd043692e-3414581561
Bromo_BDF1_2_Icd055000.0002514581557
Bromo_brd1_likecd055120.000414581546
Bromo_polybromo_Vcd055158.5e-3614581563
Bromo_polybromo_IIcd055175.2e-2414581561
Bromo_SNF2cd055193.2e-2514581561
Bromo_ASH1cd055255.1e-0714581562
Bromo_polybromo_IVcd055185e-2314581561
Bromo_WSTF_likecd055050.00114591553
Bromo_polybromo_Icd055245.3e-1814591569
Bromo_BDF1_2_IIcd054997.1e-0714611561
Bromo_Brdt_II_likecd054981.1e-0614621561
Bromo_TFIIDcd055117.5e-0514621577
Bromo_Acf1_likecd055041.5e-0714731567
Bromo_gcn5_likecd055095.4e-1014761564
Bromo_AAAcd055284.5e-0514791572
Bromo_brd7_likecd055132.9e-0514801561
Bromo_tif1_likecd055025.4e-0514811567
Bromo_BAZ2A_B_likecd055030.0001414811561
ResIIIpfam048517.4e-05751917
SNF2_Npfam001762.9e-1437571050
Helicase_Cpfam002716.1e-2811141194
COG5076COG50760.0006112911645
Bromodomainpfam004399e-2714661552
QLQpfam088801.4e-16170206
HSApfam075296.3e-22460532
HSAsmart005732.8e-29460532
BRKpfam075331.7e-21610654
BRKsmart005921.7e-22612656
DEXDcsmart004871.3e-37746942
HDA2-3pfam114969.9e-059891254
HELICcsmart004903.3e-2511101194
BROMOsmart002973.4e-4214551564

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068211Diseasep.ARG885CYSMental retardation, autosomal dominant 16 (MRD16)
Swiss-ProtVAR_068214Diseasep.ARG1157GLYMental retardation, autosomal dominant 16 (MRD16)
Swiss-ProtVAR_068212Diseasep.LEU921PHEMental retardation, autosomal dominant 16 (MRD16)
Swiss-ProtVAR_028216Polymorphismp.MET1036ILEN/A
Swiss-ProtVAR_068213Diseasep.MET1011THRMental retardation, autosomal dominant 16 (MRD16)
Swiss-ProtVAR_068210Diseasep.THR859METMental retardation, autosomal dominant 16 (MRD16)
Swiss-ProtVAR_028215Polymorphismp.VAL561GLUN/A
OMIM603254.0004 Diseasep.ARG885CYSMENTAL RETARDATION, AUTOSOMAL DOMINANT 16
OMIM603254.0007 Diseasep.ARG1157GLYMENTAL RETARDATION, AUTOSOMAL DOMINANT 16
OMIM603254.0001 Diseasep.ARG1189TERRHABDOID TUMOR PREDISPOSITION SYNDROME 2
OMIM603254.0005 Diseasep.LEU921PHEMENTAL RETARDATION, AUTOSOMAL DOMINANT 16
OMIM603254.0006 Diseasep.MET1011THRMENTAL RETARDATION, AUTOSOMAL DOMINANT 16
OMIM603254.0003 Diseasep.THR859METMENTAL RETARDATION, AUTOSOMAL DOMINANT 16



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