Gene Gene information from NCBI Gene database.
Entrez ID 6599
Gene name SWI/SNF related BAF chromatin remodeling complex subunit C1
Gene symbol SMARCC1
Synonyms (NCBI Gene)
BAF155CRACC1HYC5Rsc8SRG3SWI3
Chromosome 3
Chromosome location 3p21.31
Summary 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.
5
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.
554
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
61
GO ID Ontology Definition Evidence Reference
GO:0000776 Component Kinetochore NAS 11078522
GO:0000785 Component Chromatin HDA 16217013
GO:0000785 Component Chromatin NAS 12192000, 29374058
GO:0001673 Component Male germ cell nucleus IEA
GO:0001741 Component XY body IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601732 11104 ENSG00000173473
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
41
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital hydrocephalus Likely pathogenic rs1576390243, rs1576408050, rs1576408057, rs1576412227, rs1576426439 RCV000845208
RCV000845206
RCV000845207
RCV000845210
RCV000845209
Global developmental delay Likely pathogenic rs2106685214 RCV001779361
Hydrocephalus, congenital, 5, susceptibility to Likely pathogenic rs2549189964, rs1576390243, rs1576408057 RCV004784193
RCV003229565
RCV003229564
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Conflicting classifications of pathogenicity rs761674987 RCV003127296
Cervical cancer Benign rs116500579 RCV005935298
Clear cell carcinoma of kidney Benign rs116500579 RCV005935299
Colon adenocarcinoma Uncertain significance; Benign rs149296545, rs116500579 RCV005929021
RCV005935297
Associations from Text MiningDisease associations identified through Pubtator
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