Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6602
Gene name Gene Name - the full gene name approved by the HGNC.
SWI/SNF related BAF chromatin remodeling complex subunit D1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMARCD1
Synonyms (NCBI Gene) Gene synonyms aliases
BAF60A, CRACD1, CSS11, Rsc6p
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CSS11
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. T
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs372368908 C>A,T Pathogenic Non coding transcript variant, stop gained, genic downstream transcript variant, synonymous variant, coding sequence variant
rs1592289150 C>G Pathogenic Downstream transcript variant, genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1592294569 A>G Pathogenic Genic downstream transcript variant, intron variant, non coding transcript variant, missense variant, coding sequence variant
rs1592295890 G>A Pathogenic Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1592295914 T>C Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025886 hsa-miR-7-5p Sequencing 20371350
MIRT025886 hsa-miR-7-5p Microarray 17612493
MIRT027347 hsa-miR-101-3p Sequencing 20371350
MIRT032437 hsa-let-7b-5p Proteomics 18668040
MIRT052651 hsa-miR-223-3p Microarray, qRT-PCR 23757351
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IBA 21873635
GO:0003682 Function Chromatin binding IEA
GO:0003713 Function Transcription coactivator activity NAS 8804307
GO:0005102 Function Signaling receptor binding IEA
GO:0005515 Function Protein binding IPI 12917342, 15985610, 16189514, 18303029, 21516116, 21988832, 24421395, 24434208, 24981860, 25416956, 31515488, 32296183, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601735 11106 ENSG00000066117
Protein
UniProt ID Q96GM5
Protein name SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 (60 kDa BRG-1/Brm-associated factor subunit A) (BRG1-associated factor 60A) (BAF60A) (SWI/SNF complex 60 kDa subunit)
Protein 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 chromati
PDB 6LTH , 6LTJ , 7VDV , 7Y8R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02201 SWIB 293 365 SWIB/MDM2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested, including brain, heart, kidney, liver, lung, muscle, pancreas and placenta. {ECO:0000269|PubMed:8804307}.
Sequence
MAARAGFQSVAPSGGAGASGGAGAAAALGPGGTPGPPVRMGPAPGQGLYRSPMPGAAYPR
PGMLPGSRMTPQGPSMGPPGYGGNPSVRPGLAQSGMDQSRKRPAPQQIQQVQQQAVQNRN
HNAKKKKMADKILPQRIRELVPESQAYMDLLAFERKLDQTIMRKRLDIQEALKRPIKQKR
KLRIFISNTFNPAKSDAEDGEGTVASWELRVEGRLLEDSALSKYDATKQKRKFSSFFKSL
VIELDKDLYGPDNHLVEWHRTATTQETDGFQVKRPGDVNVRCTVLLMLDYQPPQFKLDPR
LARLLGIHTQTRPVIIQALWQYIKTHKLQDPHEREFVICDKYLQQIFESQRMKFSEIPQR
LHALL
MPPEPIIINHVISVDPNDQKKTACYDIDVEVDDTLKTQMNSFLLSTASQQEIATL
DNKIHETIETINQLKTQREFMLSFARDPQGFINDWLQSQCRDLKTMTDVVGNPEEERRAE
FYFQPWAQEAVCRYFYSKVQQRRQELEQALGIRNT
Sequence length 515
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  ATP-dependent chromatin remodeling
Thermogenesis
Hepatocellular carcinoma
  RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast adenocarcinoma Breast adenocarcinoma rs28934874, rs112445441, rs121913279, rs121913286, rs104886003, rs121434592
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
Coffin-siris syndrome Coffin-Siris syndrome rs797045262, rs387906846, rs387906857, rs387907140, rs876657379, rs387907141, rs876657380, rs748363079, rs387907142, rs876657381, rs387907143, rs387907144, rs876657382, rs786205584, rs794727977
View all (131 more)
Unknown
Disease term Disease name Evidence References Source
Coffin-Siris Syndrome Coffin-Siris syndrome 11, Coffin-Siris syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Achalasia Addisonianism Alacrimia syndrome Associate 9693044
Adenocarcinoma of Lung Inhibit 26542803
Alcoholism Associate 28981154
Anemia Aplastic Associate 29596882
Aortic Aneurysm Abdominal Associate 35968497
Asthma Associate 31992292
Carcinoma Hepatocellular Associate 38303608
Carcinoma Non Small Cell Lung Inhibit 26542803
DNA Virus Infections Associate 34898277
Endometriosis Associate 32299427