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Actn1 Gene Detail
Summary
  • Symbol
    Actn1
  • Name
    actinin, alpha 1
  • Synonyms
    3110023F10Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2137706
    NCBI Gene: 109711
Location & Maps
more
  • Sequence Map
    Chr12:80167542-80260371 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      92830 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 36.49 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ACTN1, actinin alpha 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ACTN1, actinin alpha 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BDPLT15
  • Links
    NCBI Gene ID: 87
    neXtProt AC: NX_P12814

  • Chr Location
    14q24; chr14:68874123-68979366 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ACTN1 associations

Human Disease Mouse Models
       Bleeding Disorder, Platelet-Type, 15; BDPLT15   OMIM: 615193
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotype references
  • All Mutations and Alleles
    98
  • Chemically induced (other)
    1
  • Gene trapped
    93
  • Targeted
    4
  • Genomic Mutations
    1 involving Actn1
  • Incidental Mutations
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
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
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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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000015143 Ensembl Gene Model | MGI Sequence Detail 92830 C57BL/6J ±  kb
transcript ENSMUST00000021554 Ensembl | MGI Sequence Detail 3739 Not Applicable  
polypeptide ENSMUSP00000021554 Ensembl | MGI Sequence Detail 892 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    841 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 12
    cDNA 11
    Primer pair 1

    Microarray probesets 7
Other
Accession IDs
less
MGI:1920406
References
more
  • Summaries
    All 71
    Developmental Gene Expression 13
    Gene Ontology 20
    Phenotypes 11
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:227218 Sharma P, et al., Evolutionarily conserved intercalated disc protein Tmem65 regulates cardiac conduction and connexin 43 function. Nat Commun. 2015;6:8391

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory