SMARCD1
entrez
6602
canonical
uniprot
Q96GM5
canonical
ensembl
ENSG00000066117
resolver
ensp
ENSP00000370924
resolver
ensp
ENSP00000378414
resolver
ensp
ENSP00000645975
resolver
genesymbol
SMARCD1
resolver
genesymbol_syn
BAF60A
resolver
hgnc
HGNC:11106
resolver
uniprot
A6NN27
resolver
uniprot
Q92924
resolver
uniprot
Q9Y635
resolver
uniprot_entry
SMRD1_HUMAN
resolver
uniprot_sec
A6NN27
resolver
uniprot_sec
Q92924
resolver
uniprot_sec
Q9Y635
resolver
amino_acid_sequence
MAARAGFQSVAPSGGAGASGGAGAAAALGPGGTPGPPVRMGPAPGQGLYRSPMPGAAYPRPGMLPGSRMTPQGPSMGPPGYGGNPSVRPGLAQSGMDQSRKRPAPQQIQQVQQQAVQNRNHNAKKKKMADKILPQRIRELVPESQAYMDLLAFERKLDQTIMRKRLDIQEALKRPIKQKRKLRIFISNTFNPAKSDAEDGEGTVASWELRVEGRLLEDSALSKYDATKQKRKFSSFFKSLVIELDKDLYGPDNHLVEWHRTATTQETDGFQVKRPGDVNVRCTVLLMLDYQPPQFKLDPRLARLLGIHTQTRPVIIQALWQYIKTHKLQDPHEREFVICDKYLQQIFESQRMKFSEIPQRLHALLMPPEPIIINHVISVDPNDQKKTACYDIDVEVDDTLKTQMNSFLLSTASQQEIATLDNKIHETIETINQLKTQREFMLSFARDPQGFINDWLQSQCRDLKTMTDVVGNPEEERRAEFYFQPWAQEAVCRYFYSKVQQRRQELEQALGIRNT
uniprot
proteins
disease_involvement
DISEASE: Coffin-Siris syndrome 11 (CSS11) [MIM:618779]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS11 is an autosomal dominant form characterized by developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet. {ECO:0000269|PubMed:30879640}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q61466, ECO:0000269|PubMed:12917342, ECO:0000269|PubMed:14698202, ECO:0000269|PubMed:29374058, ECO:0000269|PubMed:8804307, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}.
uniprot
proteins
mass_dalton
58233
uniprot
proteins
protein_family
SMARCD family
uniprot
proteins
pubmed
12917342
uniprot
proteins
pubmed
14698202
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
18765789
uniprot
proteins
pubmed
20460684
uniprot
proteins
pubmed
22952240
uniprot
proteins
pubmed
26601204
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29374058
uniprot
proteins
pubmed
30879640
uniprot
proteins
pubmed
32459350
uniprot
proteins
pubmed
8804307
uniprot
proteins
pubmed
8895581
uniprot
proteins
sequence_length
515
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8804307, ECO:0000305}.
uniprot
proteins