Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6599
Gene name Gene Name - the full gene name approved by the HGNC.
SWI/SNF related BAF chromatin remodeling complex subunit C1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMARCC1
Synonyms (NCBI Gene) Gene synonyms aliases
BAF155, CRACC1, HYC5, Rsc8, SRG3, SWI3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HYC5
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
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
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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601732 11104 ENSG00000173473
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
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, heart, muscle, placenta, lung, liver, muscle, kidney and pancreas.
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
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
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
View all (5 more)
27602772
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 21552421
Unknown
Disease term Disease name Evidence References Source
Hydrocephalus hydrocephalus, congenital, 5, susceptibility to GenCC
Diabetes Diabetes GWAS
Dementia Dementia GWAS
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Anemia Aplastic Associate 29596882
Arthritis Rheumatoid Associate 36800290
Carcinogenesis Associate 31533543
Carcinoma Hepatocellular Inhibit 31533543
Coffin Siris syndrome Associate 34906496
Colorectal Neoplasms Associate 19156145
Esophageal Squamous Cell Carcinoma Associate 26812616
Hand Foot and Mouth Disease Associate 33574876
Heart Diseases Associate 32037394, 38128548
Hydrocephalus Associate 29983323, 38128548