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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 5
  • Nucleosome-Remodeling Factor Subunit SNF2L 3 4
  • ATP-Dependent Helicase SMARCA1 3 4
  • SNF2L1 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 61
  • NURF140 3
  • SNF2LB 3
  • SNF2LT 3
  • HSNF2L 3
  • ISWI 3
  • SWI2 3
  • SWI 3

External Ids for SMARCA1 Gene

Previous HGNC Symbols for SMARCA1 Gene

  • SNF2L1
  • SNF2L

Previous GeneCards Identifiers for SMARCA1 Gene

  • GC0XM123226
  • GC0XM125426
  • GC0XM126525
  • GC0XM127286
  • GC0XM128306
  • GC0XM128408
  • GC0XM128580
  • GC0XM117987

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. Diseases associated with SMARCA1 include Schimke Immunoosseous Dysplasia and Thalassemias, Alpha-. Among its related pathways are AMPK Enzyme Complex Pathway and BRCA1 Pathway. GO annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is SMARCA5.

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

Regulatory Elements for SMARCA1 Gene

Enhancers for SMARCA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF129521 0.7 ENCODE 0.8 +0.7 687 3.3 TBP ZNF76 ARID4B SIN3A DMAP1 ZNF48 GLIS2 SCRT2 ZNF362 REST ENSG00000252170 SMARCA1
GH0XF129519 0.5 ENCODE 0.8 +3.2 3237 1.2 SOX13 ATF1 SAP130 TEAD1 HLF FOXA3 CEBPG RARA MYNN CEBPA ENSG00000252170 SMARCA1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SMARCA1 on UCSC Golden Path with GeneCards custom track

Promoters for SMARCA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000661253 812 2999 TBP ZNF76 ARID4B SIN3A DMAP1 ZNF48 GLIS2 SCRT2 ZNF362 REST

Genomic Location for SMARCA1 Gene

Chromosome:
X
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

Genes around SMARCA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMARCA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMARCA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for SMARCA1 Gene

P28370:
  • DDFDSWF
  • DEMGLGKT
  • PGEWDVCVTSYEM
  • QDFQFFP
  • IDEAHRIKNE
  • NRLLLTGTP
  • TGTPLQN
  • HPYLFDG
  • KSRTAME
  • ELWALLNF
  • MGLGKTL
  • LDILEDY
  • PPKRERK
  • APFHQLR
  • DSDWNPQ
  • QAMDRAHR
  • IERGEARI
  • AGGLGINL
  • QTELFAHF
  • QRRCNTLI
  • NGILADE
  • RVLIFSQM
  • LLNFLLPD
  • KRDFNQFIKANEK
  • RAHRIGQ
  • LSTRAGGLG

Post-translational modifications for SMARCA1 Gene

  • Ubiquitination at Lys 179, Lys 662, and Lys 851
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMARCA1 (SMARCA1)
  • Abcam antibodies for SMARCA1

Domains & Families for SMARCA1 Gene

Gene Families for SMARCA1 Gene

Graphical View of Domain Structure for InterPro Entry

P28370

UniProtKB/Swiss-Prot:

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

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 IEA --
GO:0003677 DNA binding IEA --
GO:0004386 helicase activity IEA,TAS --
GO:0005515 protein binding IPI 14609955
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with SMARCA1: view
genes like me logo Genes that share phenotypes with SMARCA1: view

Animal Model Products

miRNA for SMARCA1 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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

Gene Ontology (GO) - Cellular Components for SMARCA1 Gene

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

Pathways & Interactions 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
1 PharmGKB 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 IEA --
GO:0006338 chromatin remodeling IEA,IDA 14609955
GO:0006351 transcription, DNA-templated IMP 14609955
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007420 brain development IEA,IMP 14609955
genes like me logo Genes that share ontologies with SMARCA1: view

No data available for SIGNOR curated interactions for SMARCA1 Gene

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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for SMARCA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SMARCA1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.9), Tlymphocyte (11.4), and Fetal gut (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMARCA1 Gene



Protein tissue co-expression partners for SMARCA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMARCA1 Gene:

SMARCA1

SOURCE GeneReport for Unigene cluster for SMARCA1 Gene:

Hs.152292
genes like me logo Genes that share expression patterns with SMARCA1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SMARCA1 Gene

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 34
  • 96.84 (n)
dog
(Canis familiaris)
Mammalia SMARCA1 34 35
  • 94.29 (n)
cow
(Bos Taurus)
Mammalia SMARCA1 34 35
  • 93.38 (n)
rat
(Rattus norvegicus)
Mammalia Smarca1 34
  • 91.9 (n)
mouse
(Mus musculus)
Mammalia Smarca1 16 35 34
  • 91.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SMARCA1 35
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMARCA1 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMARCA1 34 35
  • 82.18 (n)
lizard
(Anolis carolinensis)
Reptilia SMARCA1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smarca1 34
  • 78.84 (n)
zebrafish
(Danio rerio)
Actinopterygii smarca1 35
  • 82 (a)
OneToOne
LOC559803 34
  • 74.88 (n)
Dr.12723 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13579 34
fruit fly
(Drosophila melanogaster)
Insecta Iswi 36 34 35
  • 65.37 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010700 34
  • 64.75 (n)
worm
(Caenorhabditis elegans)
Secernentea isw-1 34 35
  • 62.38 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISW2 34 35 37
  • 57.27 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F24838g 34
  • 56.1 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR537W 34
  • 55.18 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.4483 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6886 35
  • 70 (a)
OneToMany
Species where no ortholog for SMARCA1 was found in the sources mined by GeneCards:
  • 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

(15) 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
rs10679278 -- 129,511,550(+) TGAAC(-/TAGT)TAAAG intron-variant
rs10706195 -- 129,509,189(+) GTCTC(-/A)AAAAA intron-variant
rs111332452 -- 129,464,645(+) AACTC(C/T)TTTTC intron-variant
rs111377493 -- 129,497,157(+) ATGAA(C/T)GATGG intron-variant
rs111379976 -- 129,462,650(+) AAATA(C/T)TTAAA intron-variant

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

Variant ID Type Subtype PubMed ID
esv3574551 CNV loss 25503493
esv3574553 CNV loss 25503493
nsv523064 CNV gain 19592680
nsv525860 CNV gain 19592680

Variation tolerance for SMARCA1 Gene

Residual Variation Intolerance Score: 8.28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.30; 41.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMARCA1 Gene

Human Gene Mutation Database (HGMD)
SMARCA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMARCA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMARCA1 Gene

Disorders for SMARCA1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SMARCA1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
schimke immunoosseous dysplasia
  • immunoosseous dysplasia, schimke type
thalassemias, alpha-
  • thalassemia, alpha-
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SMARCA1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMARCA1
genes like me logo Genes that share disorders with SMARCA1: view

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

Publications for SMARCA1 Gene

  1. Isolation of human NURF: a regulator of Engrailed gene expression. (PMID: 14609955) Barak O. … Shiekhattar R. (EMBO J. 2003) 2 3 4 64
  2. 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 64
  3. Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26. (PMID: 18302774) Lazzaro M.A. … Picketts D.J. (BMC Med. Genet. 2008) 3 22 64
  4. A PHD finger of NURF couples histone H3 lysine 4 trimethylation with chromatin remodelling. (PMID: 16728976) Wysocka J. … Allis C.D. (Nature 2006) 3 22 64
  5. The imitation switch protein SNF2L regulates steroidogenic acute regulatory protein expression during terminal differentiation of ovarian granulosa cells. (PMID: 16740656) Lazzaro M.A. … Picketts D.J. (Mol. Endocrinol. 2006) 3 4 64

Products for SMARCA1 Gene

Sources for SMARCA1 Gene

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