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 NCBI 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 dog; 1 chicken; 1 zebrafish

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; chr1:229566992-229569843 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human ACTA1

Alleles and phenotypes

All alleles(2) : Targeted(2)
 

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(1)   

Gene Ontology (GO) classifications

All GO classifications: (15 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: (61 records)
Data Summary: Results (221)    Tissues (102)    Images (34)
Theiler Stages: 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
Immunohistochemistry	9
RNA in situ	45
Northern blot	20
Western blot	4
RT-PCR	143

cDNA source data(321)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(338) Genomic(7) cDNA(323) Primer pair(5) 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
Consensus CDS Project	CCDS22764.1
International Mouse Knockout Project Status	Acta1

Sequences

Length	Strain/Species
genomic	11459	NCBI Gene Model | MGI Sequence Detail	2970	C57BL/6J
transcript	NM_001272041	RefSeq | MGI Sequence Detail	1571	C57BL/6
polypeptide	P68134	UniProt | EBI | MGI Sequence Detail	377	Not Applicable

All sequences(25) RefSeq(4) UniProt(3)

Polymorphisms

All PCR and RFLP(5) : PCR(2) RFLP(3) SNPs(36 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR020902	Actin/actin-like conserved site
InterPro	IPR004001	Actin, conserved site
InterPro	IPR004000	Actin-like
Protein Ontology	PR:000003674	actin, alpha skeletal muscle

Graphical View of Protein Domain Structure

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:194471 Borensztein M, et al., Myod and H19-Igf2 locus interactions are required for diaphragm formation in the mouse. Development. 2013 Mar;140(6):1231-9
All references(129)

Other accession IDs

MGD-MRK-1083, MGD-MRK-1084, MGD-MRK-1093, MGD-MRK-1094, MGI:2142451