UniProt:Q96GM5 SMARCD1

chain
  • chain:1-515
checksum E683AA1E345DA400
comment
  • FUNCTION Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058, PubMed:8804307). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Has a strong influence on vitamin D-mediated transcriptional activity from an enhancer vitamin D receptor element (VDRE). May be a link between mammalian SWI-SNF-like chromatin remodeling complexes and the vitamin D receptor (VDR) heterodimer (PubMed:14698202). Mediates critical interactions between nuclear receptors and the BRG1/SMARCA4 chromatin-remodeling complex for transactivation (PubMed:12917342). Interacts with AKIRIN2 (By similarity).SUBUNIT Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B), and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:8895581). Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C (PubMed:18765789). In muscle cells, the BAF complex also contains DPF3. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity). Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (ACTB) (PubMed:22952240, PubMed:26601204). Component of SWI/SNF (GBAF) subcomplex, which includes at least BICRA or BICRAL (mutually exclusive), BRD9, SS18, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, SMARCC1/BAF155, and SMARCD1/BAF60A (PubMed:29374058). Specifically interacts with the VDR heterodimer complex (PubMed:14698202). Interacts with ESR1, NR3C1, NR1H4, PGR, SMARCA4, SMARCC1 and SMARCC2 (PubMed:12917342, PubMed:30879640). Interacts with DPF2 (PubMed:20460684). Interacts with DPF3a (isoform 2 of DPF3/BAF45C) and with HDGFL2 in a DPF3a-dependent manner (PubMed:32459350). Interacts with FOS, FOSB isoform 1 and 2, FOSL1 and FOSL2 (By similarity).INTERACTION Expressed in all tissues tested, including brain, heart, kidney, liver, lung, muscle, pancreas and placenta.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the SMARCD family.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.
crossReference
databaseName UniProt
dbId 64202
description
  • recommendedName: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 alternativeName: 60 kDa BRG-1/Brm-associated factor subunit A alternativeName: BRG1-associated factor 60A shortName: BAF60A alternativeName: SWI/SNF complex 60 kDa subunit
displayName UniProt:Q96GM5 SMARCD1
geneName
  • SMARCD1
  • BAF60A
identifier Q96GM5
isSequenceChanged false
keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Chromatin regulator
  • Coiled coil
  • Disease variant
  • Intellectual disability
  • Isopeptide bond
  • Methylation
  • Neurogenesis
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Ubl conjugation
modified [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType Protein
name
  • SMARCD1
otherIdentifier
  • 11741620_a_at
  • 11751008_a_at
  • 11755827_a_at
  • 11761111_at
  • 16751020
  • 203183_PM_s_at
  • 203183_s_at
  • 209518_PM_at
  • 209518_at
  • 3414391
  • 3414392
  • 3414393
  • 3414394
  • 3414395
  • 3414396
  • 3414397
  • 3414398
  • 3414399
  • 3414400
  • 3414401
  • 3414402
  • 3414403
  • 3414404
  • 3414405
  • 3414406
  • 3414407
  • 3414408
  • 3414409
  • 3414411
  • 3414412
  • 3414413
  • 3414414
  • 3414415
  • 3414416
  • 3414417
  • 3414418
  • 37753_at
  • 454_at
  • 6602
  • 7955331
  • A_23_P204745
  • A_24_P232696
  • GE59341
  • GO:0000776
  • GO:0000785
  • GO:0003682
  • GO:0003712
  • GO:0003713
  • GO:0005102
  • GO:0005515
  • GO:0005634
  • GO:0005654
  • GO:0006325
  • GO:0006337
  • GO:0006338
  • GO:0006355
  • GO:0006357
  • GO:0007399
  • GO:0008284
  • GO:0016363
  • GO:0016514
  • GO:0016586
  • GO:0030071
  • GO:0035060
  • GO:0043226
  • GO:0045582
  • GO:0045596
  • GO:0045597
  • GO:0045663
  • GO:0045815
  • GO:0045893
  • GO:0048856
  • GO:0060090
  • GO:0070316
  • GO:0071398
  • GO:0071564
  • GO:0071565
  • GO:0140288
  • GO:1902459
  • GO:2000045
  • GO:2000781
  • GO:2000819
  • HMNXSV003050983
  • Hs.79335.1.S2_3p_at
  • ILMN_1727173
  • ILMN_1728845
  • PH_hs_0004588
  • TC12000387.hg
  • U66617_at
  • g4507082_3p_a_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • SMRD1_HUMAN
  • A6NN27
  • Q92924
  • Q9Y635
sequenceLength 515
species [Species:48887] Homo sapiens
stId uniprot:Q96GM5
url http://purl.uniprot.org/uniprot/Q96GM5

Referrals

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