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Actc1 Gene Detail
Summary
  • Symbol
    Actc1
  • Name
    actin, alpha, cardiac muscle 1
  • Synonyms
    Actc-1, alphac-actin
  • Feature Type
    protein coding gene
  • IDs
    MGI:87905
    NCBI Gene: 11464
  • Alliance
  • Transcription Start Sites
    37 TSS
  • Candidate for QTL
    4 QTL
Location &
Maps
more
  • Sequence Map
    Chr2:113877763-113883356 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 2, 57.55 cM
  • Mapping Data
    18 experiments
Strain
Comparison
more
  • SNPs within 2kb
    282 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_87905
protein coding gene Chr2:113877763-113884029 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026301
protein coding gene Chr2:116523374-116529636 (-)
A/J MGP_AJ_G0026262
protein coding gene Chr2:111789212-111797406 (-)
AKR/J MGP_AKRJ_G0026241
protein coding gene Chr2:114893335-114899611 (-)
BALB/cJ MGP_BALBcJ_G0026275
protein coding gene Chr2:112016390-112023709 (-)
C3H/HeJ MGP_C3HHeJ_G0026020
protein coding gene Chr2:115318615-115324845 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026722
protein coding gene Chr2:120378528-120384792 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024102
protein coding gene Chr2:106949219-106955524 (-)
CAST/EiJ MGP_CASTEiJ_G0025483
protein coding gene Chr2:115622621-115628931 (-)
CBA/J MGP_CBAJ_G0025997
protein coding gene Chr2:124593630-124602604 (-)
DBA/2J MGP_DBA2J_G0026136
protein coding gene Chr2:111237253-111244159 (-)
FVB/NJ MGP_FVBNJ_G0026098
protein coding gene Chr2:110094481-110100740 (-)
LP/J MGP_LPJ_G0026237
protein coding gene Chr2:116825837-116832092 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026117
protein coding gene Chr2:128972509-128978782 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026777
protein coding gene Chr2:114967631-114973879 (-)
PWK/PhJ MGP_PWKPhJ_G0025219
protein coding gene Chr2:110753863-110760240 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025018
protein coding gene Chr2:114125244-114131498 (-)
WSB/EiJ MGP_WSBEiJ_G0025552
protein coding gene Chr2:115792040-115798302 (-)



Homology
more
  • Human Ortholog
    ACTC1, actin alpha cardiac muscle 1
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ACTC1, actin alpha cardiac muscle 1
  • Synonyms
    ACTC, ASD5, CMD1R, CMH11, LVNC4
  • Links
    NCBI Gene ID: 70
    neXtProt AC: NX_P68032
    UniProt: P68032

  • Chr Location
    15q14; chr15:34790107-34795589 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with Actc1 mouse models; 4 with human ACTC1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    24 phenotypes from 4 alleles in 4 genetic backgrounds
    9 phenotypes from multigenic genotypes
    2 images
    20 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 null mutation of this gene results in embryonic and postnatal lethality. Animals that survive to birth die within the first 2 weeks and display reduced body size and heart muscle defects.
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 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
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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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11464 NCBI Gene Model | MGI Sequence Detail 5594 C57BL/6J ±  kb
    transcript NM_009608 RefSeq | MGI Sequence Detail 1461 ZRU/MplStud  
    polypeptide P68033 UniProt | EBI | MGI Sequence Detail 377 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 402
      Genomic 4
      cDNA 368
      Primer pair 17
      Other 13

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1088, MGD-MRK-1089
    References
    more
    • Summaries
      All 231
      Developmental Gene Expression 147
      Diseases 1
      Gene Ontology 12
      Phenotypes 20
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:348314 Jang J, et al., Endocardial HDAC3 is required for myocardial trabeculation. Nat Commun. 2024 May 16;15(1):4166

    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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    last database update
    10/22/2024
    MGI 6.24
    The Jackson Laboratory