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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
    gene page
  • Transcription Start Sites
    27 TSS
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
    68 from dbSNP Build 142
  • Strain Annotations
    18
  • 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 MGP_129S1SvImJ_G0034264
 protein coding gene Chr8:127532835-127535805 (-)
A/J MGP_AJ_G0034244
 protein coding gene Chr8:122275650-122278605 (-)
AKR/J MGP_AKRJ_G0034171
 protein coding gene Chr8:125790081-125793049 (-)
BALB/cJ MGP_BALBcJ_G0034237
 protein coding gene Chr8:122459615-122462570 (-)
C3H/HeJ MGP_C3HHeJ_G0033948
 protein coding gene Chr8:126425086-126428054 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034757
 protein coding gene Chr8:131818454-131821422 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031698
 protein coding gene Chr8:115052170-115055115 (-)
CAST/EiJ MGP_CASTEiJ_G0033275
 protein coding gene Chr8:126536797-126539756 (-)
CBA/J MGP_CBAJ_G0033921
 protein coding gene Chr8:136630432-136633401 (-)
DBA/2J MGP_DBA2J_G0034077
 protein coding gene Chr8:121427653-121430936 (-)
FVB/NJ MGP_FVBNJ_G0034021
 protein coding gene Chr8:120590789-120593758 (-)
LP/J MGP_LPJ_G0034166
 protein coding gene Chr8:127696893-127699864 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034068
 protein coding gene Chr8:138764803-138767772 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034776
 protein coding gene Chr8:126019729-126022684 (-)
PWK/PhJ MGP_PWKPhJ_G0032977
 protein coding gene Chr8:121184184-121187160 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032816
 protein coding gene Chr8:124662141-124665101 (-)
WSB/EiJ MGP_WSBEiJ_G0033392
 protein coding gene Chr8:126748449-126751417 (-)



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, CMYP2A, CMYP2B, CMYP2C, MPFD, NEM1, NEM2, NEM3, SHPM
  • Links
    NCBI Gene ID: 58
    neXtProt AC: NX_P68133
    UniProt: P68133

  • Chr Location
    1q42.13; chr1:229430365-229434104 (-)  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
less
  • Phenotype Summary
    22 phenotypes from 2 alleles in 2 genetic backgrounds
    13 phenotypes from multigenic genotypes
    14 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
    31
  • 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
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
    1027
  • Tissues
    131
  • cDNA Data
    326
  • Literature Summary
    113
  • 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 356
      Genomic 7
      cDNA 328
      Primer pair 16
      Other 5

      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 210
      Developmental Gene Expression 113
      Diseases 2
      Gene Ontology 8
      Phenotypes 14
    • 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:334092 Broadway-Stringer S, et al., Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2. Cells. 2023 Feb 24;12(5)
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory