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Aliases for SMARCC1 Gene

Aliases for SMARCC1 Gene

  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 1 2 3
  • 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 155 KDa Subunit 3 4
  • BRG1-Associated Factor 155 3 4
  • BAF155 3 4
  • 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. Among its related pathways are Prostate Cancer and AMPK Enzyme Complex Pathway. GO annotations related to this gene include chromatin binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is SMARCC2.

UniProtKB/Swiss-Prot for SMARCC1 Gene

  • Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). May stimulate the ATPase activity of the catalytic subunit of the complex. 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCC1 Gene

Genomics for SMARCC1 Gene

Regulatory Elements for SMARCC1 Gene

Promoters for SMARCC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMARCC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMARCC1 Gene

Chromosome:
3
Start:
47,585,272 bp from pter
End:
47,782,106 bp from pter
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 a number of multiprotein chromatin-remodeling complexes: Swi/Snf-A (BAF), Swi/Snf-B (PBAF), Brm, Brg1(I) and Brg1(II). Each of the complexes contains a catalytic subunit (either SMARCA4 or SMARCA2), and at least SMARCE1, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCC2 and SMARCB1. Other subunits specific to each of the complexes may also be present. Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. May also interact with the SIN3A histone deacetylase transcription repressor complex in conjunction with SMARCA2 and SMARCA4. 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. Interacts with NR3C1 and SMARD1. 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). Interacts with TRIP12; leading to disrupt interaction between TRIP12 and SMARCE1 and prevent SMARCE1 ubiquitination. Interacts with CEBPB (when not methylated)(PubMed:20111005).
    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

Proteomics data for SMARCC1 Gene at MOPED

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 Lys 592, Lys 716, and Lys 948
  • Modification sites at PhosphoSitePlus

Other Protein References for SMARCC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMARCC1 (SMARCC1)

No data available for DME Specific Peptides for SMARCC1 Gene

Domains & Families for SMARCC1 Gene

Gene Families for SMARCC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92922

UniProtKB/Swiss-Prot:

SMRC1_HUMAN :
  • Contains 1 SANT domain.
  • Belongs to the SMARCC family.
Domain:
  • Contains 1 SANT domain.
  • Contains 1 SWIRM domain.
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

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
UniProtKB/Swiss-Prot Function:
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). May stimulate the ATPase activity of the catalytic subunit of the complex. 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 Ontology (GO) - Molecular Function for SMARCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031492 contributes_to nucleosomal DNA binding IDA 16217013
GO:0047485 protein N-terminus binding IPI 12917342
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMARCC1 Gene COMPARTMENTS Subcellular localization image for SMARCC1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for SMARCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001741 XY body IEA --
GO:0005654 nucleoplasm TAS --
GO:0043234 protein complex IDA 16217013
genes like me logo Genes that share ontologies with SMARCC1: view

Pathways & Interactions for SMARCC1 Gene

genes like me logo Genes that share pathways with SMARCC1: view

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:0006337 nucleosome disassembly IDA 8895581
GO:0006338 chromatin remodeling IDA 10078207
GO:0006351 transcription, DNA-templated IEA --
GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process IEA --
GO:0043044 ATP-dependent chromatin remodeling IDA 16217013
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

Unigene Clusters for SMARCC1 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
SMARCC1

Expression for SMARCC1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for SMARCC1 Gene



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.
genes like me logo Genes that share expression patterns with SMARCC1: view

Protein tissue co-expression partners for SMARCC1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia SMARCC1 35
  • 92.36 (n)
  • 96.7 (a)
SMARCC1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCC1 35
  • 93.4 (n)
  • 97.42 (a)
SMARCC1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smarcc1 35
  • 89.19 (n)
  • 96.08 (a)
Smarcc1 16
Smarcc1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMARCC1 35
  • 99.64 (n)
  • 99.73 (a)
SMARCC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smarcc1 35
  • 89.09 (n)
  • 96.27 (a)
oppossum
(Monodelphis domestica)
Mammalia SMARCC1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCC1 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMARCC1 35
  • 79.99 (n)
  • 88.87 (a)
SMARCC1 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMARCC1 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smarcc1 35
  • 73.84 (n)
  • 79.34 (a)
African clawed frog
(Xenopus laevis)
Amphibia smarcc1-prov 35
zebrafish
(Danio rerio)
Actinopterygii Dr.12644 35
smarcc1a 35
  • 68.9 (n)
  • 74.15 (a)
smarcc1a 36
  • 69 (a)
OneToMany
smarcc1b 36
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta mor 37
  • 45 (a)
mor 36
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea swsn-1 36
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWI3 36
  • 25 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3259 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.41 36
  • 59 (a)
OneToMany
Species with no ortholog for SMARCC1:
  • 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)

Paralogs for SMARCC1 Gene

Paralogs for SMARCC1 Gene

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

genes like me logo Genes that share paralogs with SMARCC1: view

Variants for SMARCC1 Gene

Sequence variations from dbSNP and Humsavar for SMARCC1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs3772406 - 47,588,303(+) GAGGG(A/G/T)GATCT reference, missense
rs507082 -- 47,736,078(-) TTGAT(C/T)TGAAG reference, synonymous-codon
rs512345 -- 47,708,211(+) tacgg(A/G)tcact intron-variant
rs513225 -- 47,708,315(+) tttgt(A/T)ttttt intron-variant
rs602109 -- 47,724,755(-) CTTTA(A/G)AACTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv428417 CNV Loss 18775914
nsv3807 CNV Insertion 18451855
nsv876758 CNV Gain 21882294
nsv876759 CNV Gain 21882294
nsv237419 CNV Loss 16902084
nsv834679 CNV Loss 17160897
esv269273 CNV Insertion 20981092
esv274306 CNV Insertion 20981092
nsv508916 CNV Insertion 20534489
nsv3808 CNV Insertion 18451855
nsv231 CNV Insertion 15895083
nsv10270 CNV Gain 18304495

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)

Relevant External Links for SMARCC1 Gene

HapMap Linkage Disequilibrium report
SMARCC1
Human Gene Mutation Database (HGMD)
SMARCC1

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

Disorders for SMARCC1 Gene

Relevant External Links for SMARCC1

Genetic Association Database (GAD)
SMARCC1
Human Genome Epidemiology (HuGE) Navigator
SMARCC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMARCC1

No disorders were found for SMARCC1 Gene.

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

Publications for SMARCC1 Gene

  1. Diversity and specialization of mammalian SWI/SNF complexes. (PMID: 8804307) Wang W. … Crabtree G.R. (Genes Dev. 1996) 2 3 4 67
  2. BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation. (PMID: 12917342) Hsiao P.W. … Archer T.K. (Mol. Cell. Biol. 2003) 3 23
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for SMARCC1 Gene

Sources for SMARCC1 Gene

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