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Aliases for SMARCA1 Gene

Aliases for SMARCA1 Gene

  • SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 1 2 3
  • SNF2L1 3 4 6
  • Nucleosome-Remodeling Factor Subunit SNF2L 3 4
  • ATP-Dependent Helicase SMARCA1 3 4
  • SNF2L 3 4
  • SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily A Member 1 4
  • Global Transcription Activator Homologous Sequence 3
  • Probable Global Transcription Activator SNF2L1 3
  • Sucrose Nonfermenting 2-Like Protein 1 3
  • SNF2-Like 1 3
  • EC 3.6.4.- 4
  • EC 3.6.1 64
  • NURF140 3
  • SNF2LB 3
  • SNF2LT 3
  • SWI2 3
  • ISWI 3
  • SWI 3

External Ids for SMARCA1 Gene

Previous Symbols for SMARCA1 Gene

  • SNF2L1
  • SNF2L

Summaries for SMARCA1 Gene

Entrez Gene Summary for SMARCA1 Gene

  • This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for SMARCA1 Gene

SMARCA1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 1) is a Protein Coding gene. Among its related pathways are PEDF Induced Signaling and BRCA1 Pathway. GO annotations related to this gene include helicase activity and nucleosome binding. An important paralog of this gene is CHD1L.

UniProtKB/Swiss-Prot for SMARCA1 Gene

  • Energy-transducing component of NURF (nucleosome-remodeling factor) and CERF (CECR2-containing-remodeling factor) complexes. Both complexes facilitate the perturbation of chromatin structure in an ATP-dependent manner. Potentiates neurite outgrowth. May be involved in brain development by regulating En-1 and En-2 expression. May be involved in the development of luteal cells.

Gene Wiki entry for SMARCA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMARCA1 Gene

Genomics for SMARCA1 Gene

Genomic Location for SMARCA1 Gene

Start:
129,446,501 bp from pter
End:
129,523,513 bp from pter
Size:
77,013 bases
Orientation:
Minus strand

Genomic View for SMARCA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMARCA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMARCA1 Gene

Regulatory Elements for SMARCA1 Gene

Proteins for SMARCA1 Gene

  • Protein details for SMARCA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28370-SMCA1_HUMAN
    Recommended name:
    Probable global transcription activator SNF2L1
    Protein Accession:
    P28370
    Secondary Accessions:
    • Q5JV41
    • Q5JV42

    Protein attributes for SMARCA1 Gene

    Size:
    1054 amino acids
    Molecular mass:
    122605 Da
    Quaternary structure:
    • Part of the nucleosome-remodeling factor (NURF) complex which consists of SMARCA1; BPTF; RBBP4 and RBBP7. Part of the CECR2-containing-remodeling factor (CERF) complex which contains CECR2 and SMARCA1. Interacts with PRLR.
    SequenceCaution:
    • Sequence=AAA80560.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SMARCA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMARCA1 Gene

Proteomics data for SMARCA1 Gene at MOPED

Post-translational modifications for SMARCA1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys179, Lys662, Lys851, and Lys944

Other Protein References for SMARCA1 Gene

Domains for SMARCA1 Gene

UniProtKB/Swiss-Prot:

SMCA1_HUMAN
Domain:
  • Contains 1 helicase ATP-binding domain.:
    • P28370
  • Contains 1 helicase C-terminal domain.:
    • P28370
  • Contains 2 SANT domains.:
    • P28370
Family:
  • Belongs to the SNF2/RAD54 helicase family. ISWI subfamily.:
    • P28370
genes like me logo Genes that share domains with SMARCA1: view

No data available for Gene Families for SMARCA1 Gene

Function for SMARCA1 Gene

Molecular function for SMARCA1 Gene

GENATLAS Biochemistry: general transcriptional activator S cerevisiae SWI/SNF related protein,matrix associated,actin-dependent regulator of chromatin,subfamily A,member 1,component of the chromatin remodeling complex,Drosophila ISWI (initiator of SWI) homolog
UniProtKB/Swiss-Prot Function: Energy-transducing component of NURF (nucleosome-remodeling factor) and CERF (CECR2-containing-remodeling factor) complexes. Both complexes facilitate the perturbation of chromatin structure in an ATP-dependent manner. Potentiates neurite outgrowth. May be involved in brain development by regulating En-1 and En-2 expression. May be involved in the development of luteal cells.

Enzyme Numbers (IUBMB) for SMARCA1 Gene

Gene Ontology (GO) - Molecular Function for SMARCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding --
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 14609955
genes like me logo Genes that share ontologies with SMARCA1: view
genes like me logo Genes that share phenotypes with SMARCA1: view

miRNA for SMARCA1 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for SMARCA1 Gene

Localization for SMARCA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMARCA1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMARCA1 Gene COMPARTMENTS Subcellular localization image for SMARCA1 gene
Compartment Confidence
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for SMARCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin --
GO:0005634 nucleus IDA 14609955
GO:0016589 NURF complex IDA 20850016
GO:0090537 CERF complex IDA 15640247
genes like me logo Genes that share ontologies with SMARCA1: view

Pathways for SMARCA1 Gene

genes like me logo Genes that share pathways with SMARCA1: view

Pathways by source for SMARCA1 Gene

1 Cell Signaling Technology pathway for SMARCA1 Gene

Gene Ontology (GO) - Biological Process for SMARCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000733 DNA strand renaturation IDA 22705370
GO:0006200 obsolete ATP catabolic process --
GO:0006338 chromatin remodeling IDA 14609955
GO:0006351 transcription, DNA-templated IMP 14609955
GO:0007420 brain development IMP 14609955
genes like me logo Genes that share ontologies with SMARCA1: view

Transcripts for SMARCA1 Gene

Unigene Clusters for SMARCA1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for SMARCA1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^
SP1:
SP2: -
SP3:
SP4:
SP5:

ExUns: 24a · 24b · 24c ^ 25a · 25b · 25c · 25d
SP1:
SP2:
SP3:
SP4: - -
SP5: -

Relevant External Links for SMARCA1 Gene

GeneLoc Exon Structure for
SMARCA1
ECgene alternative splicing isoforms for
SMARCA1

Expression for SMARCA1 Gene

mRNA expression in normal human tissues for SMARCA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMARCA1 Gene

SOURCE GeneReport for Unigene cluster for SMARCA1 Gene Hs.152292

genes like me logo Genes that share expressions with SMARCA1: view

Orthologs for SMARCA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMARCA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMARCA1 36
  • 96.84 (n)
  • 95.87 (a)
cow
(Bos Taurus)
Mammalia SMARCA1 36
  • 93.38 (n)
  • 97.04 (a)
SMARCA1 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMARCA1 36
  • 94.29 (n)
  • 97.61 (a)
SMARCA1 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smarca1 36
  • 91.78 (n)
  • 96.75 (a)
Smarca1 16
Smarca1 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMARCA1 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCA1 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smarca1 36
  • 91.9 (n)
  • 96.72 (a)
chicken
(Gallus gallus)
Aves SMARCA1 36
  • 82.18 (n)
  • 92.49 (a)
SMARCA1 37
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMARCA1 37
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smarca1 36
  • 78.84 (n)
  • 88.41 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13579 36
zebrafish
(Danio rerio)
Actinopterygii Dr.12723 36
LOC559803 36
  • 74.88 (n)
  • 87.63 (a)
smarca1 37
  • 82 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010700 36
  • 64.75 (n)
  • 74.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta Iswi 36
  • 65.37 (n)
  • 74.82 (a)
Iswi 37
  • 70 (a)
OneToMany
Iswi 38
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea isw-1 36
  • 62.38 (n)
  • 65.39 (a)
isw-1 37
  • 61 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR537W 36
  • 55.18 (n)
  • 51.84 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISW2 36
  • 57.27 (n)
  • 52.38 (a)
ISW2 37
  • 45 (a)
OneToMany
ISW2 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F24838g 36
  • 56.1 (n)
  • 51.48 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.4483 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6886 37
  • 70 (a)
OneToMany
Species with no ortholog for SMARCA1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 SMARCA1 Gene

ENSEMBL:
Gene Tree for SMARCA1 (if available)
TreeFam:
Gene Tree for SMARCA1 (if available)

Paralogs for SMARCA1 Gene

Paralogs for SMARCA1 Gene

Selected SIMAP similar genes for SMARCA1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SMARCA1: view

Variants for SMARCA1 Gene

Sequence variations from dbSNP and Humsavar for SMARCA1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs15261 -- 129,446,704(-) TTTGT(A/G)TTACT utr-variant-3-prime
rs1324151 -- 129,473,893(+) ATGCA(C/T)TTGTG intron-variant
rs1408301 -- 129,461,692(+) TTTTT(G/T)ACTAT intron-variant
rs1408302 -- 129,461,916(+) TTTCT(C/T)TTTTG intron-variant
rs1575544 -- 129,487,355(+) ACTTA(A/G)GCTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMARCA1 Gene

Variant ID Type Subtype PubMed ID
nsv525860 CNV Gain 19592680
nsv523064 CNV Gain 19592680

Relevant External Links for SMARCA1 Gene

HapMap Linkage Disequilibrium report
SMARCA1
Locus Specific Mutation Databases (LSDB)
SMARCA1

Disorders for SMARCA1 Gene

(1) University of Copenhagen DISEASES for SMARCA1 Gene

genes like me logo Genes that share disorders with SMARCA1: view

No data available for UniProtKB/Swiss-Prot for SMARCA1 Gene

Publications for SMARCA1 Gene

  1. Cloning of human and bovine homologs of SNF2/SWI2: a global activator of transcription in yeast S. cerevisiae. (PMID: 1408766) Okabe I. … Nussbaum R.L. (Nucleic Acids Res. 1992) 2 3 4
  2. Isolation of human NURF: a regulator of Engrailed gene expression. (PMID: 14609955) Barak O. … Shiekhattar R. (EMBO J. 2003) 2 3 4
  3. A tissue-specific, naturally occurring human SNF2L variant inactivates chromatin remodeling. (PMID: 15310751) Barak O. … Shiekhattar R. (J. Biol. Chem. 2004) 3 4
  4. Identification of the phosphotyrosine proteome from thrombin activated platelets. (PMID: 12112843) Maguire P.B. … Fitzgerald D.J. (Proteomics 2002) 3 4
  5. [Characterization of genomic structure and mutation analysis of SMARCA1 gene in a Smith-Fineman-Myers syndrome family]. (PMID: 15473299) Liu Q.J. … Guo Y.S. (Yi Chuan Xue Bao 2004) 3 23

Products for SMARCA1 Gene

  • antibodies-online peptides for SMARCA1
  • antibodies-online antibodies for SMARCA1
  • antibodies-online kits for SMARCA1

Sources for SMARCA1 Gene

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