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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    27 TSS
  • Regulated by
    Rr277 (1 regulatory region)
Location &
Maps
more
  • Sequence Map
    Chr8:124618508-124621490 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 72.26 cM
  • Mapping Data
    20 experiments
Strain
Comparison
more
  • SNPs within 2kb
    141 from dbSNP Build 142
  • Strain Annotations
    19
  • PCR
    2
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_87902
 protein coding gene Chr8:124618497-124621514 (-)
129S1/SvImJ ENSMUSG00200040062
 protein coding gene Chr8:118864666-118867651 (-)
A/J ENSMUSG00195023886
 protein coding gene Chr8:119168028-119170997 (-)
AKR/J ENSMUSG00220041009
 protein coding gene Chr8:119346140-119349121 (-)
BALB/cJ ENSMUSG00180026406
 protein coding gene Chr8:119212957-119215925 (-)
C3H/HeJ ENSMUSG00175030214
 protein coding gene Chr8:119265651-119268632 (-)
C57BL/6NJ ENSMUSG00215018965
 protein coding gene Chr8:118850251-118853234 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031698
 protein coding gene Chr8:115052170-115055115 (-)
CAST/EiJ ENSTCUG00005028313
 protein coding gene Chr8:118619728-118622700 (-)
CBA/J ENSMUSG00210033682
 protein coding gene Chr8:119176234-119179216 (-)
DBA/2J ENSMUSG00185036352
 protein coding gene Chr8:125495133-125498115 (-)
FVB/NJ ENSMUSG00205027148
 protein coding gene Chr8:118158720-118161702 (-)
JF1/MsJ ENSUMUG00000022085
 protein coding gene Chr8:127720428-127723396 (-)
LP/J ENSMUSG00230025731
 protein coding gene Chr8:129047361-129050346 (-)
NOD/ShiLtJ ENSMUSG00190016837
 protein coding gene Chr8:119298700-119301682 (-)
NZO/HlLtJ ENSMUSG00225019869
 protein coding gene Chr8:132429384-132432386 (-)
PWK/PhJ ENSLUMG00010034054
 protein coding gene Chr8:119007596-119010565 (-)
SPRET/EiJ ENSMSPG00010037745
 protein coding gene Chr8:121196821-121199794 (-)
WSB/EiJ ENSIUOG00005030199
 protein coding gene Chr8:119983755-119986736 (-)



Homology
more
  • Human Ortholog
    ACTA1, actin alpha 1, skeletal muscle
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ACTA1, actin alpha 1, skeletal muscle
  • Synonyms
    ACTA, ASMA, CFTD, CFTD1, CFTDM, CMYO2A, CMYO2B, CMYO2C, CMYP2A, CMYP2B, CMYP2C, MPFD, NEM1, NEM2, NEM3, SHPM
  • Links
    NCBI Gene ID: 58
    UniProt: P68133

  • Chr Location
    1q42.13; chr1:229430365-229434789 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Acta1 mouse models; 3 with human ACTA1 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    22 phenotypes from 2 alleles in 2 genetic backgrounds
    13 phenotypes from multigenic genotypes
    16 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.
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
less
  • All GO Annotations
    33
  • GO References
    8
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
membraneless 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
    955
  • Tissues
    134
  • cDNA Data
    326
  • Literature Summary
    116
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031972 Ensembl Gene Model | MGI Sequence Detail 2983 C57BL/6J ±  kb
    transcript ENSMUST00000034453 Ensembl | MGI Sequence Detail 1446 Not Applicable  
    polypeptide ENSMUSP00000034453 Ensembl | MGI Sequence Detail 377 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 365
      Genomic 7
      cDNA 328
      Primer pair 24
      Other 6
      Antibodies 9

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1083, MGD-MRK-1084, MGD-MRK-1093, MGD-MRK-1094, MGI:2142451
    References
    more
    • Summaries
      All 228
      Developmental Gene Expression 116
      Diseases 2
      Gene Ontology 8
      Phenotypes 16
    • 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:369747 Lin S, et al., Rbpms2 prevents major cardiac defects in cardiomyocyte-specific Rbpms-deficient mice. Dev Cell. 2025 Jun 24;
    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
    09/01/2026
    MGI 6.24     		The Jackson Laboratory