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Smarca1
Gene Detail
Symbol

Name
ID
Smarca1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
MGI:1935127
Synonyms
5730494M04Rik, Snf2l
Feature Type
protein coding gene
Genetic Map
Chromosome X
25.41 cM, cytoband A3.2
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
ChrX:47809368-47892974 bp, - strand
From VEGA annotation of GRCm38

  83607 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55711  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: SMARCA1
Protein SuperFamily: chromatin remodelling complex ATPase chain ISWI
Gene Tree: Smarca1

Human
homologs
SMARCA1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 6594
neXtProt AC: NX_P28370

Human Synonyms: ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SNF2LT, SWI, SWI2

Human Chr (Location): Xq25; chrX:129446501-129523513 (-)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Female mice homozygous and male mice hemizygous for a targeted disruption of this gene exhibit abnormalities in neuron differentiation and neuronal precursor proliferation, increased brain and heart weight, and forebrain hypercellularity.
 
Interactions
Smarca1 interacts with 320 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (31 annotations)
Process ATP-dependent chromatin remodeling, brain development, ...
Component CERF complex, nuclear chromatin, ...
Function annealing helicase activity, ATPase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (90)    Tissues (55)    Images (28)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 90
cDNA source data(48)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA SMARCA1 ; Xenbase smarca1 ; ZFIN smarca1    NEW 
Molecular
reagents
All nucleic(48) cDNA(48)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000017431 (Evidence)
Ensembl Gene Model ENSMUSG00000031099 (Evidence)
Entrez Gene 93761 (Evidence)
UniGene 229151
DFCI TC1581195, TC1592116, TC1588359, TC1594828
DoTS DT.484724, DT.101368413, DT.91297871, DT.60102803
EC 3.6.4.-
Consensus CDS Project CCDS30104.1, CCDS72374.1
International Mouse Phenotyping Consortium Status Smarca1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017431 VEGA Gene Model | MGI Sequence Detail 83607 C57BL/6J ±  kb
transcript OTTMUST00000042325 VEGA | MGI Sequence Detail 3991 Not Applicable 
polypeptide OTTMUSP00000019014 VEGA | MGI Sequence Detail 1062 Not Applicable 

For the selected sequences
All sequences(62) RefSeq(8) UniProt(5)
Polymorphisms
SNPs within 2kb(193 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR020838 DBINO domain
InterPro IPR001650 Helicase, C-terminal
InterPro IPR014001 Helicase, superfamily 1/2, ATP-binding domain
InterPro IPR009057 Homeodomain-like
InterPro IPR015194 ISWI HAND domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR017884 SANT domain
InterPro IPR001005 SANT/Myb domain
InterPro IPR015195 SLIDE domain
InterPro IPR000330 SNF2-related
Protein Ontology PR:000029761 global transcription activator SNF2L1
References
(Earliest) J:69527 Lazzaro MA, et al., Cloning and characterization of the murine Imitation Switch (ISWI) genes: differential expression patterns suggest distinct developmental roles for Snf2h and Snf2l. J Neurochem. 2001 May;77(4):1145-56
(Latest) J:202061 Pepin D, et al., The imitation switch ATPase Snf2l is required for superovulation and regulates Fgl2 in differentiating mouse granulosa cells. Biol Reprod. 2013 Jun;88(6):142
All references(34)
Other
accession IDs
MGI:2444083

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory