About   Help   FAQ
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

HCOP human homology predictions: ACTA1
Protein SuperFamily: actin
Gene Tree: Acta1

Human
homologs
ACTA1, actin, alpha 1, skeletal muscle
Orthology source: HGNC, HomoloGene

IDs:
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.p2

Disease Associations: (2) Diseases Associated with Human ACTA1

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Targeted(3) Transgenic(9)
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 in Mice Using Acta1 (1)    Mutations Annotated to Human Diseases (10)   
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: (70 records)
Data Summary: Results (221)    Tissues (102)    Images (35)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 9
RNA in situ 43
Northern blot 20
Western blot 4
RT-PCR 145
cDNA source data(325)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA ACTA1 ; Xenbase acta1 ; ZFIN acta1a, acta1b    NEW 
Molecular
reagents
All nucleic(343) Genomic(7) cDNA(327) Primer pair(6) Other(3)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000031972 (Evidence)
Entrez Gene 11459 (Evidence)
UniGene 214950
DFCI TC1574422, TC1692392
DoTS DT.91536869, DT.94160441, DT.94160463
NIA Mouse Gene Index U030382
PDB 4B1U
Consensus CDS Project CCDS22764.1
International Mouse Phenotyping Consortium Status Acta1
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(25) RefSeq(4) UniProt(3)
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:221639 Georgas KM, et al., An illustrated anatomical ontology of the developing mouse lower urogenital tract. Development. 2015 May 15;142(10):1893-908
All references(137)
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/18/2015
MGI 6.0
The Jackson Laboratory