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SMARCD1 (SWI/SNF related BAF chromatin remodeling complex subunit D1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6602
Gene nameGene Name - the full gene name approved by the HGNC.
SWI/SNF related BAF chromatin remodeling complex subunit D1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SMARCD1
SynonymsGene synonyms aliases
BAF60A, CRACD1, CSS11, Rsc6p
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.12
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence 
MAARAGFQSVAPSGGAGASGGAGAAAALGPGGTPGPPVRMGPAPGQGLYRSPMPGAAYPR
PGMLPGSRMTPQGPSMGPPGYGGNPSVRPGLAQSGMDQSRKRPAPQQIQQVQQQAVQNRN
HNAKKKKMADKILPQRIRELVPESQAYMDLLAFERKLDQTIMRKRLDIQEALKRPIKQKR
KLRIFISNTFNPAKSDAEDGEGTVASWELRVEGRLLEDSALSKYDATKQKRKFSSFFKSL
VIELDKDLYGPDNHLVEWHRTATTQETDGFQVKRPGDVNVRCTVLLMLDYQPPQFKLDPR
LARLLGIHTQTRPVIIQALWQYIKTHKLQDPHEREFVICDKYLQQIFESQRMKFSEIPQR
LHALLMPPEPIIINHVISVDPNDQKKTACYDIDVEVDDTLKTQMNSFLLSTASQQEIATL
DNKIHETIETINQLKTQREFMLSFARDPQGFINDWLQSQCRDLKTMTDVVGNPEEERRAE
FYFQPWAQEAVCRYFYSKVQQRRQELEQALGIRNT
Sequence length 515
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
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
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term 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, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038
Coffin-siris syndrome Coffin-Siris syndrome rs797045262, rs387906846, rs387906857, rs387907140, rs876657379, rs387907141, rs876657380, rs748363079, rs387907142, rs876657381, rs387907143, rs387907144, rs876657382, rs786205584, rs794727977, rs796052242, rs796052240, rs772995852, rs796052241, rs753933273, rs797045272, rs797045277, rs797045278, rs797045279, rs797045280, rs797045281, rs797045282, rs797045283, rs869312697, rs869312712, rs878854600, rs879253746, rs886040958, rs750447037, rs35441529, rs886041878, rs886041706, rs886044620, rs1057518045, rs1057517825, rs1057518951, rs1057519009, rs1057518984, rs1057518648, rs1057518691, rs1554294674, rs1064793482, rs1085307818, rs1085307695, rs1131691706, rs1131692263, rs1028186690, rs1553153771, rs1555155026, rs1554248236, rs1554265319, rs1554301230, rs1554231836, rs1554231845, rs1554234341, rs1554237269, rs1554265275, rs1554270809, rs1554294698, rs1404726383, rs758120346, rs1555031372, rs1554231278, rs1555155252, rs1555139310, rs1553152590, rs1554298232, rs1554238072, rs773740590, rs1554237992, rs1554237658, rs1554233122, rs1554236040, rs1554256703, rs201653711, rs1554238035, rs1554237785, rs1554232959, rs1555031500, rs1555032051, rs1555032044, rs1555032074, rs1555154946, rs1334099693, rs1555605795, rs1554265271, rs1562328526, rs1562331655, rs772973856, rs1554235834, rs1562347066, rs1562355401, rs377021700, rs1451259945, rs1562345819, rs1554294593, rs1562350940, rs1554231904, rs1565642121, rs1565903353, rs1206884190, rs1565903367, rs1565917836, rs1565896447, rs1562354784, rs1464282327, rs1582601669, rs1582601747, rs1583469292, rs1426841589, rs1582908829, rs1583280025, rs1583368813, rs1583513256, rs1583516082, rs1583438967, rs1554232919, rs1583280152, rs1583451360, rs1289067120, rs1583451146, rs1583502875, rs1554248082, rs1583491381, rs1583491515, rs1583518354, rs1592145571, rs754167205, rs1592118927, rs1592324196, rs1592121202, rs1592289150, rs1592294569, rs1592295890, rs1592295914, rs372368908, rs943407609, rs1417035592, rs1794276185, rs1554265316, rs1554232925
Unknown
Disease name Disease term dbSNP ID References
Tendinopathy Tendinopathy 28358823

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