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Acta1 Gene Detail
Summary
  • Symbol
    Acta1
  • Name
    actin, alpha 1, skeletal muscle
  • Synonyms
    Acts, Actsk-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:87902
    NCBI Gene: 11459
Location & Maps
more
  • Sequence Map
    Chr8:123891767-123894736 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2970 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 72.26 cM
  • Mapping Data
    20 experiments
Homology
more
  • Human Ortholog
    ACTA1, actin, alpha 1, skeletal muscle
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ACTA1, actin, alpha 1, skeletal muscle
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3, SHPM
  • Links
    NCBI Gene ID: 58
    neXtProt AC: NX_P68133

  • Chr Location
    1q42.13; chr1:229431245-229434096 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 121702
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: ACTA1
  • Protein SuperFamily
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Acta1 mouse models; 3 with human ACTA1 associations

Human Disease Mouse Models
       Nemaline Myopathy 3; NEM3   OMIM: 161800 View 4 models
       Myopathy, Congenital, with Fiber-Type Disproportion; CFTD   OMIM: 255310
Myopathy, Scapulohumeroperoneal; SHPM   OMIM: 616852
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    10 with disease annotations
  • References
    11 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    22 phenotypes from 2 alleles in 2 genetic backgrounds
    21 phenotypes from multigenic genotypes
    24 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.
  • All Mutations and Alleles
    12
  • Targeted
    3
  • Transgenic
    9
  • Incidental Mutations
Homozygous mutant animals die by postnatal day 10 and display reduced body weight/size, atrophy of brown adipose tissue, depleted glycogen stores of the liver and skeletal muscles, muscle weakness, and scoliosis.
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 ENSMUSG00000031972 Ensembl Gene Model | MGI Sequence Detail 2970 C57BL/6J ±  kb
transcript ENSMUST00000034453 Ensembl | MGI Sequence Detail 1433 Not Applicable  
polypeptide ENSMUSP00000034453 Ensembl | MGI Sequence Detail 377 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    70 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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Molecular
Reagents
less
  • All nucleic 344
    Genomic 7
    cDNA 327
    Primer pair 6
    Other 4

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-1083, MGD-MRK-1084, MGD-MRK-1093, MGD-MRK-1094, MGI:2142451
References
more
  • Summaries
    All 136
    Developmental Gene Expression 72
    Diseases 11
    Gene Ontology 5
    Phenotypes 24
  • Earliest
    J:6283 Katcoff D, et al., Construction of recombinant plasmids containing rat muscle actin and myosin light chain DNA sequences. Proc Natl Acad Sci U S A. 1980 Feb;77(2):960-4
  • Latest
    J:229482 Nagandla H, et al., Defective myogenesis in the absence of the muscle-specific lysine methyltransferase SMYD1. Dev Biol. 2016 Feb 1;410(1):86-97

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory