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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
  • Gene Overview
    MyGene.info: SMARCA1
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:47809370-47892575 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 25.41 cM, cytoband A3.2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    191 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1935127
protein coding gene ChrX:47809368-47892974 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035684
protein coding gene ChrX:42926042-43004632 (-)
A/J MGP_AJ_G0035667
protein coding gene ChrX:42802505-42879297 (-)
AKR/J MGP_AKRJ_G0035587
protein coding gene ChrX:43971892-44050073 (-)
BALB/cJ MGP_BALBcJ_G0035653
protein coding gene ChrX:42462959-42539179 (-)
C3H/HeJ MGP_C3HHeJ_G0035357
protein coding gene ChrX:43233709-43314271 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036182
protein coding gene ChrX:43965388-44046163 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033034
protein coding gene ChrX:40516588-40590769 (-)
CAST/EiJ MGP_CASTEiJ_G0034648
protein coding gene ChrX:30829984-30904369 (-)
CBA/J MGP_CBAJ_G0035331
protein coding gene ChrX:45181412-45267556 (-)
DBA/2J MGP_DBA2J_G0035485
protein coding gene ChrX:42659092-42742253 (-)
FVB/NJ MGP_FVBNJ_G0035434
protein coding gene ChrX:42374820-42449735 (-)
LP/J MGP_LPJ_G0035573
protein coding gene ChrX:43292469-43381713 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035472
protein coding gene ChrX:46596616-46690115 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036200
protein coding gene ChrX:42858467-42934435 (-)
PWK/PhJ MGP_PWKPhJ_G0034347
protein coding gene ChrX:30314859-30389439 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034192
protein coding gene ChrX:31597425-31672089 (-)
WSB/EiJ MGP_WSBEiJ_G0034792
protein coding gene ChrX:42482442-42560918 (-)



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: HomoloGene, HGNC
  • Synonyms
    hSNF2L, ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SNF2LT, SWI, SWI2
  • Links
    NCBI Gene ID: 6594
    neXtProt AC: NX_P28370
    UniProt: P28370

  • Chr Location
    Xq25-q26.1; chrX:129446501-129523564 (-)  GRCh38.p7

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
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 93761 NCBI Gene Model | MGI Sequence Detail 83206 C57BL/6J ±  kb
    transcript NM_001358619 RefSeq | MGI Sequence Detail 5122 C57BL/6  
    polypeptide Q6PGB8 UniProt | EBI | MGI Sequence Detail 1046 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 49
      cDNA 49

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2444083
    References
    more
    • Summaries
      All 34
      Developmental Gene Expression 10
      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:235665 He S, et al., Chromatin remodeling enzyme Snf2h regulates embryonic lens differentiation and denucleation. Development. 2016 Jun 1;143(11):1937-47

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory