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Acta1
Gene Detail
Symbol

Name
ID
Acta1
actin, alpha 1, skeletal muscle
MGI:87902
Synonyms
Acts, Actsk-1
Feature Type
protein coding gene
Genetic Map
Chromosome 8
72.26 cM
Detailed Genetic Map ± 1 cM


Mapping data(20)
Sequence Map
Chr8:123891767-123894736 bp, - strand
From Ensembl annotation of GRCm38

  2970 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:121702  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: actin
Gene Tree: Acta1

Human
homologs
Human Homolog ACTA1, actin, alpha 1, skeletal muscle
NCBI Gene ID 58
neXtProt AC  NX_P68133
Human Synonyms  ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3
Human Chr (Location)  1q42.13; chr1:229431245-229434096 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human ACTA1
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Acta1 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Acta1 interacts with 49 markers (Mir1a-1, Mir1a-2, Mir19a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process skeletal muscle fiber development, skeletal muscle thin filament assembly
Component actin cytoskeleton, actin filament, ...
Function ATP binding, nucleotide binding, ...
External Resources: FuncBase
Expression
Literature Summary: (65 records)
Data Summary: Results (223)    Tissues (104)    Images (35)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 9
RNA in situ 45
Northern blot 20
Western blot 4
RT-PCR 145
cDNA source data(325)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(343) Genomic(7) cDNA(327) Primer pair(6) Other(3)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000031972 (Evidence)
Entrez Gene11459 (Evidence)
UniGene214950
DFCITC1574422, TC1692392
DoTSDT.91536869, DT.94160441, DT.94160463
NIA Mouse Gene IndexU030382
PDB4B1U
Consensus CDS ProjectCCDS22764.1
International Mouse Knockout Project StatusActa1
Sequences
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 sequences
All sequences(27) RefSeq(4) UniProt(5)
Polymorphisms
All PCR and RFLP(5) : PCR(2) RFLP(3) SNPs within 2kb(67 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR020902 Actin/actin-like conserved site
InterPro IPR004001 Actin, conserved site
InterPro IPR004000 Actin-related protein
Protein Ontology PR:000003674 actin, alpha skeletal muscle
References
(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:201095 Ravenscroft G, et al., Cardiac alpha-actin over-expression therapy in dominant ACTA1 disease. Hum Mol Genet. 2013 Oct 1;22(19):3987-97
All references(136)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-1083, MGD-MRK-1084, MGD-MRK-1093, MGD-MRK-1094, MGI:2142451

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
11/18/2014
MGI 5.20
The Jackson Laboratory