GediPNet logo

SMARCC1 (SWI/SNF related BAF chromatin remodeling complex subunit C1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6599
Gene nameGene Name - the full gene name approved by the HGNC.
SWI/SNF related BAF chromatin remodeling complex subunit C1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SMARCC1
SynonymsGene synonyms aliases
BAF155, CRACC1, HYC5, Rsc8, SRG3, SWI3
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
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.
SNP ID Visualize variation Clinical significance Consequence
rs1576390243 T>- Likely-pathogenic Frameshift variant, coding sequence variant
rs1576408050 ->GAGTCCCCACT Likely-pathogenic Frameshift variant, coding sequence variant
rs1576408057 T>G Likely-pathogenic Missense variant, coding sequence variant
rs1576412227 ->TT Likely-pathogenic Frameshift variant, coding sequence variant
rs1576426439 T>A Likely-pathogenic Coding sequence variant, stop gained
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023740 hsa-miR-1-3p Proteomics 18668040
MIRT025422 hsa-miR-34a-5p Proteomics 21566225
MIRT025422 hsa-miR-34a-5p Proteomics 21566225
MIRT027600 hsa-miR-98-5p Microarray 19088304
MIRT032311 hsa-let-7b-5p Proteomics 18668040
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin HDA 16217013
GO:0001741 Component XY body IEA
GO:0003713 Function Transcription coactivator activity NAS 8804307
GO:0005515 Function Protein binding IPI 9891079, 10078207, 11238380, 12368262, 12917342, 15985610, 18303029, 20111005, 23540691, 24421395, 24434208, 24981860, 25416956, 28420882, 28533407, 28753627, 31759698, 32296183
GO:0005634 Component Nucleus IDA 28753627
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q92922
Protein name SWI/SNF complex subunit SMARCC1 (BRG1-associated factor 155) (BAF155) (SWI/SNF complex 155 kDa subunit) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1)
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 2YUS , 5GJK , 6KZ7 , 6YXO , 6YXP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16496 SWIRM-assoc_2
32 445
SWIRM-associated domain at the N-terminal
Family
PF04433 SWIRM
452 537
SWIRM domain
Domain
PF00249 Myb_DNA-binding
620 665
Myb-like DNA-binding domain
Domain
PF16498 SWIRM-assoc_3
706 772
SWIRM-associated domain at the C-terminal
Family
PF16495 SWIRM-assoc_1
871 954
SWIRM-associated region 1
Family
Sequence
MAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLG
KHYKKYVHADAPTNKTLAGLVVQLLQFQEDAFGKHVTNPAFTKLPAKCFMDFKAGGALCH
ILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYLIPDIDLKL
ANKLKDIIKRHQGTFTDEKSKASHHIYPYSSSQDDEEWLRPVMRKEKQVLVHWGFYPDSY
DTWVHSNDVDAEIEDPPIPEKPWKVHVKWILDTDIFNEWMNEEDYEVDENRKPVSFRQRI
STKNEEPVRSPERRDRKASANARKRKHSPSPPPPTPTESRKKSGKKGQASLYGKRRSQKE
EDEQEDLTKDMEDPTPVPNIEEVVLPKNVNLKKDSENTPVKGGTVADLDEQDEETVTAGG
KEDEDPAKGDQSRSVDLGEDNVTEQ
TNHIIIPSYASWFDYNCIHVIERRALPEFFNGKNK
SKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLTGDVCAVMRVHAFLEQWGLVNY
QVD
PESRPMAMGPPPTPHFNVLADTPSGLVPLHLRSPQVPAAQQMLNFPEKNKEKPVDLQNFG
LRTDIYSKKTLAKSKGASAGREWTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILH
FLRLP
IEDPYLENSDASLGPLAYQPVPFSQSGNPVMSTVAFLASVVDPRVASAAAKAALE
EFSRVREEVPLELVEAHVKKVQEAARASGKVDPTYGLESSCIAGTGPDEPEK
LEGAEEEK
MEADPDGQQPEKAENKVENETDEGDKAQDGENEKNSEKEQDSEVSEDTKSEEKETEENKE
LTDTCKERESDTGKKKVEHEISEGNVATAAAAALASAATKAKHLAAVEERKIKSLVALLV
ETQMKKLEIKLRHFEELETIMDREKEALEQQRQQLLTERQNFHMEQLKYAELRA
RQQMEQ
QQHGQNPQQAHQHSGGPGLAPLGAAGHPGMMPHQQPPPYPLMHHQMPPPHPPQPGQIPGP
GSMMPGQHMPGRMIPTVAANIHPSGSGPTPPGMPPMPGNILGPRVPLTAPNGMYPPPPQQ
QPPPPPPADGVPPPPAPGPPASAAP
Sequence length 1105
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.
 
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
Causal
Disease name Disease term dbSNP ID References
Adenocarcinoma Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular rs121913530, rs886039394, rs121913474 21552421
Carcinoma Carcinoma, Cribriform, Carcinoma, Granular Cell rs121912654, rs555607708, rs786202962, rs1564055259 21552421
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382 27602772
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 21552421
Unknown
Disease name Disease term dbSNP ID References
Lung neoplasms Lung Neoplasms 21552421

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412