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. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine z... See more...

Aliases for SMARCC1 Gene

Aliases for SMARCC1 Gene

  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 1 2 3 5
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily C Member 1 3 4
  • SWI/SNF Complex Subunit SMARCC1 3 4
  • SWI/SNF Complex 155 KDa Subunit 3 4
  • BRG1-Associated Factor 155 3 4
  • BAF155 3 4
  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily C, Member 1 2
  • Mammalian Chromatin Remodeling Complex BRG1-Associated Factor 155 3
  • Chromatin Remodeling Complex BAF155 Subunit 3
  • CRACC1 3
  • Rsc8 3
  • SRG3 3
  • SWI3 3

External Ids for SMARCC1 Gene

Previous GeneCards Identifiers for SMARCC1 Gene

  • GC03M047432
  • GC03M046832
  • GC03M047587
  • GC03M047602
  • GC03M047626

Summaries for SMARCC1 Gene

Entrez Gene Summary for SMARCC1 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. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]

GeneCards Summary for SMARCC1 Gene

SMARCC1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 1) is a Protein Coding gene. Diseases associated with SMARCC1 include Rhabdoid Cancer and Kidney Rhabdoid Cancer. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Glucocorticoid receptor regulatory network. Gene Ontology (GO) annotations related to this gene include chromatin binding and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is SMARCC2.

UniProtKB/Swiss-Prot Summary for SMARCC1 Gene

  • 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 chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. May stimulate the ATPase activity of the catalytic subunit of the complex (PubMed:10078207, PubMed:29374058). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).

Gene Wiki entry for SMARCC1 Gene

Additional gene information for SMARCC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMARCC1 Gene

Genomics for SMARCC1 Gene

GeneHancer (GH) Regulatory Elements for SMARCC1 Gene

Promoters and enhancers for SMARCC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMARCC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMARCC1

Top Transcription factor binding sites by QIAGEN in the SMARCC1 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • FOXO1
  • FOXO1a
  • p53
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT5B

Genomic Locations for SMARCC1 Gene

Genomic Locations for SMARCC1 Gene
chr3:47,585,269-47,782,106
(GRCh38/hg38)
Size:
196,838 bases
Orientation:
Minus strand
chr3:47,626,762-47,823,596
(GRCh37/hg19)
Size:
196,835 bases
Orientation:
Minus strand

Genomic View for SMARCC1 Gene

Genes around SMARCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMARCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMARCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMARCC1 Gene

Proteins for SMARCC1 Gene

  • Protein details for SMARCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92922-SMRC1_HUMAN
    Recommended name:
    SWI/SNF complex subunit SMARCC1
    Protein Accession:
    Q92922
    Secondary Accessions:
    • Q17RS0
    • Q6P172
    • Q8IWH2

    Protein attributes for SMARCC1 Gene

    Size:
    1105 amino acids
    Molecular mass:
    122867 Da
    Quaternary structure:
    • Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (Probable). Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3 (PubMed:18765789). Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity). Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (PubMed:22952240, PubMed:26601204). Component of SWI/SNF (GBAF) subcomplex, which includes at least BICRA or BICRAL (mutually exclusive), BRD9, SS18, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, SMARCC1/BAF155, and SMARCD1/BAF60A (PubMed:29374058). May also interact with the SIN3A histone deacetylase transcription repressor complex in conjunction with SMARCA2 and SMARCA4 (PubMed:11238380). The minimal complex composed of SMARCC1 and SMARCA4 seems to be able to associate with cyclin such as CCNE1 or transcription factors such as KLF1 or GATA1 (PubMed:9891079). Interacts with NR3C1 and SMARD1 (PubMed:12917342). Interacts with TRIP12; leading to disrupt interaction between TRIP12 and SMARCE1 and prevent SMARCE1 ubiquitination (PubMed:20111005). Interacts with CEBPB (when not methylated)(PubMed:20829358). Interacts with KDM6B (By similarity). Interacts with MKKS; the interaction takes place predominantly in the cytoplasm and may modulate SMARCC1 location (PubMed:28753627). Interacts with DPF2 (PubMed:28533407).
    SequenceCaution:
    • Sequence=AAH39843.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH65253.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SMARCC1 Gene

neXtProt entry for SMARCC1 Gene

Post-translational modifications for SMARCC1 Gene

  • Phosphorylated on undefined residues at the G2/M transition by ERK1 and other kinases. This may contribute to cell cycle specific inactivation of remodeling complexes containing the phosphorylated protein.
  • Ubiquitination at Lys592, Lys716, and Lys948
  • Modification sites at PhosphoSitePlus

Other Protein References for SMARCC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SMARCC1 Gene

Domains & Families for SMARCC1 Gene

Gene Families for SMARCC1 Gene

Protein Domains for SMARCC1 Gene

Blocks:
  • Chromo domain
  • BRCT domain
  • Myb DNA-binding domain
  • SWIRM
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMARCC1 Gene

GenScript: Design optimal peptide antigens:
  • SMARCC1 protein (Q05BW5_HUMAN)
  • SMARCC1 protein (Q05CR1_HUMAN)
  • SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (Q58EY4_HUMAN)
  • SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1 (SMRC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92922

UniProtKB/Swiss-Prot:

SMRC1_HUMAN :
  • Belongs to the SMARCC family.
Family:
  • Belongs to the SMARCC family.
genes like me logo Genes that share domains with SMARCC1: view

Function for SMARCC1 Gene

Molecular function for SMARCC1 Gene

UniProtKB/Swiss-Prot 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 chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. May stimulate the ATPase activity of the catalytic subunit of the complex (PubMed:10078207, PubMed:29374058). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).
GENATLAS Biochemistry:
general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator of chromatin,subfamily C,member 1,component of the chromatin remodeling complex,ubiquitously expressed

Phenotypes From GWAS Catalog for SMARCC1 Gene

Gene Ontology (GO) - Molecular Function for SMARCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 contributes_to RNA polymerase II proximal promoter sequence-specific DNA binding HDA 16217013
GO:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding HDA 16217013
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003713 transcription coactivator activity NAS 8804307
genes like me logo Genes that share ontologies with SMARCC1: view
genes like me logo Genes that share phenotypes with SMARCC1: view

Animal Models for SMARCC1 Gene

MGI Knock Outs for SMARCC1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMARCC1 Gene

Localization for SMARCC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMARCC1 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMARCC1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SMARCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin HDA 16217013
GO:0001741 XY body IEA --
GO:0005634 nucleus IEA,IDA 28753627
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 28753627
genes like me logo Genes that share ontologies with SMARCC1: view

Pathways & Interactions for SMARCC1 Gene

PathCards logo

SuperPathways for SMARCC1 Gene

SuperPathway Contained pathways
1 AMPK Enzyme Complex Pathway
.01
-
2 Chromatin organization
3 Transcription Ligand-dependent activation of the ESR1/SP pathway
.37
.37
4 Chromatin Regulation / Acetylation
5 Gastric cancer
genes like me logo Genes that share pathways with SMARCC1: view

Pathways by source for SMARCC1 Gene

2 GeneGo (Thomson Reuters) pathways for SMARCC1 Gene
  • Development Ligand-dependent activation of the ESR1/AP-1 pathway
  • Transcription Ligand-dependent activation of the ESR1/SP pathway
4 Qiagen pathways for SMARCC1 Gene
  • AMPK Enzyme Complex Pathway
  • BRCA1 Pathway
  • Chromatin Remodeling
  • Glucocorticoid Receptor Signaling
1 Cell Signaling Technology pathway for SMARCC1 Gene

SIGNOR curated interactions for SMARCC1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for SMARCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006337 nucleosome disassembly IDA 8895581
GO:0006338 chromatin remodeling IDA 10078207
GO:0006357 regulation of transcription by RNA polymerase II NAS 8804307
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with SMARCC1: view

Drugs & Compounds for SMARCC1 Gene

No Compound Related Data Available

Transcripts for SMARCC1 Gene

mRNA/cDNA for SMARCC1 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMARCC1 Gene

No ASD Table

Relevant External Links for SMARCC1 Gene

GeneLoc Exon Structure for
SMARCC1

Expression for SMARCC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMARCC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SMARCC1 Gene

This gene is overexpressed in Pancreas (10.2) and Peripheral blood mononuclear cells (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMARCC1 Gene



Protein tissue co-expression partners for SMARCC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMARCC1

SOURCE GeneReport for Unigene cluster for SMARCC1 Gene:

Hs.476179

mRNA Expression by UniProt/SwissProt for SMARCC1 Gene:

Q92922-SMRC1_HUMAN
Tissue specificity: Expressed in brain, heart, muscle, placenta, lung, liver, muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for SMARCC1 Gene

  • Nervous system(4.6)
  • Eye(4.3)
  • Liver(4.3)
  • Blood(2.5)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with SMARCC1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMARCC1 Gene

Orthologs for SMARCC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SMARCC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMARCC1 31 30
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCC1 31 30
  • 93.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SMARCC1 31 30
  • 92.36 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMARCC1 31
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCC1 31
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smarcc1 17 31 30
  • 89.19 (n)
rat
(Rattus norvegicus)
Mammalia Smarcc1 30
  • 89.09 (n)
chicken
(Gallus gallus)
Aves SMARCC1 31 30
  • 79.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMARCC1 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smarcc1 30
  • 73.84 (n)
African clawed frog
(Xenopus laevis)
Amphibia smarcc1-prov 30
zebrafish
(Danio rerio)
Actinopterygii smarcc1a 31 30
  • 68.9 (n)
OneToMany
smarcc1b 31
  • 62 (a)
OneToMany
Dr.12644 30
fruit fly
(Drosophila melanogaster)
Insecta mor 31 32
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea swsn-1 31
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWI3 31
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.41 31
  • 59 (a)
OneToMany
Cin.3259 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3259 30
Species where no ortholog for SMARCC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMARCC1 Gene

ENSEMBL:
Gene Tree for SMARCC1 (if available)
TreeFam:
Gene Tree for SMARCC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SMARCC1: view image

Paralogs for SMARCC1 Gene

Paralogs for SMARCC1 Gene

(2) SIMAP similar genes for SMARCC1 Gene using alignment to 5 proteins:

  • SMRC1_HUMAN
  • F8WE13_HUMAN
  • Q05BW5_HUMAN
  • Q05CR1_HUMAN
  • Q58EY4_HUMAN
genes like me logo Genes that share paralogs with SMARCC1: view

Variants for SMARCC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMARCC1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
635382 Not Provided: not provided 47,638,723(-) A/G SPLICE_DONOR_VARIANT
684690 Likely Pathogenic: Congenital hydrocephalus 47,676,764(-) C/CGAGTCCCCACT FRAMESHIFT_VARIANT
684691 Likely Pathogenic: Congenital hydrocephalus 47,676,777(-) T/G MISSENSE_VARIANT
684692 Likely Pathogenic: Congenital hydrocephalus 47,622,315(-) CT/C FRAMESHIFT_VARIANT
684693 Likely Pathogenic: Congenital hydrocephalus 47,736,075(-) T/A NONSENSE

Additional dbSNP identifiers (rs#s) for SMARCC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SMARCC1 Gene

Variant ID Type Subtype PubMed ID
nsv10270 CNV gain 18304495
nsv1116987 CNV deletion 24896259
nsv1160937 CNV duplication 26073780
nsv231 CNV insertion 15895083
nsv237419 CNV deletion 16902084
nsv3807 CNV insertion 18451855
nsv3808 CNV insertion 18451855
nsv428417 CNV loss 18775914
nsv508916 CNV insertion 20534489
nsv590232 CNV loss 21841781
nsv590233 CNV loss 21841781
nsv834679 CNV loss 17160897
nsv967013 CNV duplication 23825009

Variation tolerance for SMARCC1 Gene

Residual Variation Intolerance Score: 17.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMARCC1 Gene

Human Gene Mutation Database (HGMD)
SMARCC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMARCC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCC1 Gene

Disorders for SMARCC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SMARCC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
rhabdoid cancer
  • rhabdoid tumor predisposition syndrome 1
kidney rhabdoid cancer
  • kidney rhabdoid tumor
neurilemmomatosis
  • schwannomatosis 1
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SMARCC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SMARCC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMARCC1 Gene

Publications for SMARCC1 Gene

  1. BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation. (PMID: 12917342) Hsiao PW … Archer TK (Molecular and cellular biology 2003) 3 4 23 54
  2. Diversity and specialization of mammalian SWI/SNF complexes. (PMID: 8804307) Wang W … Crabtree GR (Genes & development 1996) 2 3 4 54
  3. Glioma tumor suppressor candidate region gene 1 (GLTSCR1) and its paralog GLTSCR1-like form SWI/SNF chromatin remodeling subcomplexes. (PMID: 29374058) Alpsoy A … Dykhuizen EC (The Journal of biological chemistry 2018) 3 4 54
  4. Histone-binding of DPF2 mediates its repressive role in myeloid differentiation. (PMID: 28533407) Huber FM … Hoelz A (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 4 54
  5. Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. (PMID: 28753627) Scott CA … Slusarski DC (PLoS genetics 2017) 3 4 54

Products for SMARCC1 Gene