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Arid1a Gene Detail
Summary
  • Symbol
    Arid1a
  • Name
    AT rich interactive domain 1A (SWI-like)
  • Synonyms
    1110030E03Rik, BAF250a, Osa1, Smarcf1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1935147
    NCBI Gene: 93760
  • Gene Overview
    MyGene.info: ARID1A
  • Alliance
  • Transcription Start Sites
    17 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:133679008-133753977 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 66.25 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    411 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1935147
protein coding gene Chr4:133679008-133756769 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028904
protein coding gene Chr4:135970028-136050653 (-)
A/J MGP_AJ_G0028863
protein coding gene Chr4:130262572-130339780 (-)
AKR/J MGP_AKRJ_G0028815
protein coding gene Chr4:133965896-134046095 (-)
BALB/cJ MGP_BALBcJ_G0028886
protein coding gene Chr4:130901990-130979736 (-)
C3H/HeJ MGP_C3HHeJ_G0028600
protein coding gene Chr4:134221328-134301845 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029328
protein coding gene Chr4:140840528-140924164 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026599
protein coding gene Chr4:123326256-123405519 (-)
CAST/EiJ MGP_CASTEiJ_G0028033
protein coding gene Chr4:132325979-132418063 (-)
CBA/J MGP_CBAJ_G0028565
protein coding gene Chr4:144543229-144633127 (-)
DBA/2J MGP_DBA2J_G0028714
protein coding gene Chr4:130684405-130762217 (-)
FVB/NJ MGP_FVBNJ_G0028682
protein coding gene Chr4:129576714-129655002 (-)
LP/J MGP_LPJ_G0028815
protein coding gene Chr4:136073748-136153006 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028707
protein coding gene Chr4:149022250-149103085 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029366
protein coding gene Chr4:134387646-134468649 (-)
PWK/PhJ MGP_PWKPhJ_G0027753
protein coding gene Chr4:127401275-127480003 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027579
protein coding gene Chr4:130223302-130304577 (-)
WSB/EiJ MGP_WSBEiJ_G0028112
protein coding gene Chr4:134575120-134650417 (-)



Homology
more
  • Human Ortholog
    ARID1A, AT-rich interaction domain 1A
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ARID1A, AT-rich interaction domain 1A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, hELD, hOSA1, MRD14, OSA1, P270, SMARCF1
  • Links
    NCBI Gene ID: 8289
    neXtProt AC: NX_O14497
    UniProt: O14497

  • Chr Location
    1p36.11; chr1:26696031-26782110 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 21216
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ARID1A
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Arid1a mouse models; 1 with human ARID1A associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    52 phenotypes from 5 alleles in 5 genetic backgrounds
    11 phenotypes from multigenic genotypes
    30 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.
Embryos with homozygous null alleles arrest development at E6.5 with failure to form a mesoderm layer. Mice homozygous for an allele lacking exon 2 and 3 die shortly after birth and exhibit an increase in the hematopoietic stem cell population of the fetal liver at E14.5.
Gene Ontology
(GO)
Classifications
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  • 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 93760 NCBI Gene Model | MGI Sequence Detail 74970 C57BL/6J ±  kb
    transcript NM_001080819 RefSeq | MGI Sequence Detail 8175 Not Specified  
    polypeptide A2BH40 UniProt | EBI | MGI Sequence Detail 2283 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR001606 ARID DNA-binding domain
      IPR036431 ARID DNA-binding domain superfamily
      IPR011989 Armadillo-like helical
      IPR016024 Armadillo-type fold
      IPR030094 SWI/SNF-like complex subunit BAF250a
      IPR033388 SWI/SNF-like complex subunit BAF250, C-terminal
      IPR021906 SWI/SNF-like complex subunit BAF250/Osa
    Molecular
    Reagents
    less
    • All nucleic 250
      cDNA 246
      Primer pair 4

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1915989
    References
    more
    • Summaries
      All 73
      Developmental Gene Expression 16
      Diseases 2
      Gene Ontology 15
      Phenotypes 30
    • Earliest
      J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
    • Latest
      J:264370 Sima J, et al., Eda-activated RelB recruits an SWI/SNF (BAF) chromatin-remodeling complex and initiates gene transcription in skin appendage formation. Proc Natl Acad Sci U S A. 2018 Aug 7;115(32):8173-8178

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory