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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:46898247-46981490 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • 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:46898245-46981851 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMARCA1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
  • 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:129446501-129523500 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 2 alleles in 1 genetic background
    1 phenotype from multigenic genotypes
    7 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
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
neoplasm
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
    49
  • GO References
    12
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    862
  • Tissues
    95
  • cDNA Data
    50
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 93761 NCBI Gene Model | MGI Sequence Detail 83244 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 51
      cDNA 50
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2444083
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 12
      Gene Ontology 12
      Phenotypes 7
    • 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:282739 Alvarez-Saavedra M, et al., Snf2h Drives Chromatin Remodeling to Prime Upper Layer Cortical Neuron Development. Front Mol Neurosci. 2019;12:243
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory