About   Help   FAQ
Smarca1 Gene Detail
Summary
  • Symbol
    Smarca1
  • Name
    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
  • Synonyms
    5730494M04Rik, Snf2l
  • Feature Type
    protein coding gene
  • IDs
    MGI:1935127
    NCBI Gene: 93761
Location & Maps
more
  • Sequence Map
    ChrX:47809368-47892974 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      83607 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SMARCA1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMARCA1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SNF2LT, SWI, SWI2
  • Links
    NCBI Gene ID: 6594
    neXtProt AC: NX_P28370

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 2 alleles in 1 genetic background
    1 phenotype from multigenic genotypes
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    193 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 48
    cDNA 48

    Microarray probesets 4
Other
Accession IDs
less
MGI:2444083
References
more
  • Summaries
    All 33
    Developmental Gene Expression 8
    Gene Ontology 7
    Phenotypes 5
  • 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:225216 Alvarez-Saavedra M, et al., Snf2h-mediated chromatin organization and histone H1 dynamics govern cerebellar morphogenesis and neural maturation. Nat Commun. 2014;5:4181

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory