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
  gene page
• Transcription Start Sites
  37 TSS
• Candidate for QTL
  4 QTL

Location &
Maps

• Sequence Map
  Chr2:113877763-113883356 bp, - strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 2, 57.55 cM
• Mapping Data
  18 experiments

Strain
Comparison

• SNPs within 2kb
  282 from dbSNP Build 142
• Strain Annotations
  18
• RFLP
  9

Strain	Gene Model ID	Feature Type	Coordinates
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

• 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
  HGNC:143

  NCBI Gene ID: 70

  neXtProt AC: NX_P68032

  UniProt: P68032

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

---

• MGI Vertebrate Homology
  Actc1 stringent orthology
  1 human;1 mouse;1 rat;3 zebrafish
  
• HCOP
  vertebrate homology predictions: ACTC1
• Gene Tree
  Actc1
  

Human Diseases

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

Human Disease

Mouse Models

dilated cardiomyopathy 1R

IDs

dilated cardiomyopathy 1R      

DOID:0110456
ICD10CM:I42.0
OMIM:613424

View 1 model

Mouse Models

Human Disease Modeled: dilated cardiomyopathy 1R

Allelic Composition	Genetic Background	Reference	Phenotypes
Tg(Myh6-Actc1*R312H)307Iko/?	involves: C57BL/6	J:178587	View

atrial heart septal defect 5

IDs

atrial heart septal defect 5      

DOID:0110110
ICD10CM:Q21.1
OMIM:612794

dilated cardiomyopathy

IDs

dilated cardiomyopathy      

DOID:12930
EFO:0000407
ICD10CM:I42.0
KEGG:05414
MESH:D002311
NCI:C84673
OMIM:PS115200
ORDO:217604
UMLS_CUI:C0007193

hypertrophic cardiomyopathy 11

IDs

hypertrophic cardiomyopathy 11      

DOID:0110317
OMIM:612098

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

• Phenotype Summary
  24 phenotypes from 4 alleles in 4 genetic backgrounds
  9 phenotypes from multigenic genotypes
  2 images
  20 phenotype references
  

• All Mutations and Alleles
  13
• Chemically induced (other)
  1
• Endonuclease-mediated
  5
• Radiation induced
  1
• Targeted
  5
• Transgenic
  1
• Genomic Mutations
  2 involving Actc1
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  24 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype
• Recombinase Activity
  Comparison Matrix Gene Expression + Recombinase Activity

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

• All GO Annotations
  43
• GO References
  12

Expression

• Assay Results
  1362
• Tissues
  379
• cDNA Data
  364
• Literature Summary
  147

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  GEISHA ACTC1
  Xenbase actc1
  ZFIN actc1a, actc1b

Sequences &
Gene Models

• All Sequences
  48
• RefSeq
  2
• UniProt
  7
• CCDS
  CCDS16564.1

• Ensembl
  ENSMUSG00000068614 (Evidence)
• NCBI Gene
  11464

Representative Sequences			Length	Strain/Species
genomic	11464	NCBI Gene Model | MGI Sequence Detail	5594	C57BL/6J
transcript	NM_009608	RefSeq | MGI Sequence Detail	1461	ZRU/MplStud
polypeptide	P68033	UniProt | EBI | MGI Sequence Detail	377	Not Applicable

Protein
Information

• UniProt
  7 Sequences
• Protein Ontology
  PR:000003679 actin, alpha cardiac muscle 1
  (term hierarchy)
• PDB
  8Q4G
• EC
  3.6.4.-
• InterPro Domains
  IPR020902 Actin/actin-like conserved site
  IPR004001 Actin, conserved site
  IPR004000 Actin family
  IPR043129 ATPase, nucleotide binding domain
• GlyGen
  P68033 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)

Molecular
Reagents

• All nucleic 402

  Genomic 4

  cDNA 368

  Primer pair 17

  Other 13

  
  

  Microarray probesets 4

Other
Accession IDs

MGD-MRK-1088, MGD-MRK-1089

References

• 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

TSS for Actc1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr25693	Chr2:113883996-113884043 (-)	-664 bp
Tssr25692	Chr2:113883285-113883299 (-)	64 bp
Tssr25691	Chr2:113882680-113882684 (-)	674 bp
Tssr25690	Chr2:113882558-113882568 (-)	793 bp
Tssr25689	Chr2:113882540-113882552 (-)	810 bp
Tssr25688	Chr2:113882474-113882508 (-)	865 bp
Tssr25687	Chr2:113882410-113882463 (-)	919 bp
Tssr25686	Chr2:113881779-113881793 (-)	1,570 bp
Tssr25685	Chr2:113881436-113881447 (-)	1,914 bp
Tssr25684	Chr2:113881066-113881096 (-)	2,275 bp
Tssr25683	Chr2:113880975-113880978 (-)	2,379 bp
Tssr25682	Chr2:113880968-113880969 (-)	2,387 bp
Tssr602	Chr2:113880958-113880961 (-)	2,396 bp
Tssr25681	Chr2:113880886-113880930 (-)	2,448 bp
Tssr25680	Chr2:113880839-113880846 (-)	2,513 bp
Tssr25679	Chr2:113880826-113880835 (-)	2,525 bp
Tssr25678	Chr2:113880817-113880825 (-)	2,535 bp
Tssr25677	Chr2:113880145-113880160 (-)	3,203 bp
Tssr25676	Chr2:113880118-113880135 (-)	3,229 bp
Tssr25675	Chr2:113880081-113880112 (-)	3,259 bp
Tssr25674	Chr2:113880033-113880080 (-)	3,299 bp
Tssr25673	Chr2:113879829-113879834 (-)	3,524 bp
Tssr25672	Chr2:113879794-113879803 (-)	3,557 bp
Tssr25671	Chr2:113879725-113879786 (-)	3,600 bp
Tssr25670	Chr2:113879682-113879723 (-)	3,653 bp
Tssr25669	Chr2:113878726-113878785 (-)	4,600 bp
Tssr25668	Chr2:113878697-113878722 (-)	4,646 bp
Tssr25667	Chr2:113878661-113878695 (-)	4,678 bp
Tssr25666	Chr2:113878634-113878652 (-)	4,713 bp
Tssr25665	Chr2:113878067-113878098 (-)	5,273 bp
Tssr601	Chr2:113878053-113878061 (-)	5,299 bp
Tssr600	Chr2:113878043-113878050 (-)	5,309 bp
Tssr25664	Chr2:113877959-113877990 (-)	5,381 bp
Tssr25663	Chr2:113877929-113877949 (-)	5,417 bp
Tssr25662	Chr2:113877866-113877923 (-)	5,461 bp
Tssr25661	Chr2:113877809-113877820 (-)	5,541 bp
Tssr25660	Chr2:113877792-113877799 (-)	5,560 bp

Actc1 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Actre2	Chr2, 57.65 cM	Chr2:80005954-80006113	J:98595	Microarray analysis was used to identify genes showing alcohol-induced differential expression between inbred strains C57BL/6J and DBA/2J. These genes were then correlated to alcohol-related QTLs to identify potential candidate genes. The experiment involved identifying genes expressed differentially in alcohol-induced and non-induced animals but the following list of candidate genes are only for alcohol-induced states. On mouse Chromosome 2, several candidate genes were identified for Actre2 at 48 cM,Actre3 at 63 cM, Actre4 at 65 cM, and Alcp1 at 37 cM. Candidate genes for Actre2 are Dlx1 (44 cM), Frzb (49.75 cM), D2Ertd391e, and Kai1 (49.6 cM). Candidate genes for Actre3 and Actre4 are Bdnf (62 cM) and Actc1 (64 cM), respectively. Candidate genes forAlcp1 are Pbx3 (22 cM), Hspa5 (22.5 cM), Rprm, Pkp4, and March7 (formerly Axot).
Actre3	Chr2, 68.30 cM	Chr2:112024987-128173821	J:98595	Microarray analysis was used to identify genes showing alcohol-induced differential expression between inbred strains C57BL/6J and DBA/2J. These genes were then correlated to alcohol-related QTLs to identify potential candidate genes. The experiment involved identifying genes expressed differentially in alcohol-induced and non-induced animals but the following list of candidate genes are only for alcohol-induced states. On mouse Chromosome 2, several candidate genes were identified for Actre2 at 48 cM,Actre3 at 63 cM, Actre4 at 65 cM, and Alcp1 at 37 cM. Candidate genes for Actre2 are Dlx1 (44 cM), Frzb (49.75 cM), D2Ertd391e, and Kai1 (49.6 cM). Candidate genes for Actre3 and Actre4 are Bdnf (62 cM) and Actc1 (64 cM), respectively. Candidate genes forAlcp1 are Pbx3 (22 cM), Hspa5 (22.5 cM), Rprm, Pkp4, and March7 (formerly Axot).
Actre4	Chr2, 59.40 cM	Chr2:112024987-128173821	J:98595	Microarray analysis was used to identify genes showing alcohol-induced differential expression between inbred strains C57BL/6J and DBA/2J. These genes were then correlated to alcohol-related QTLs to identify potential candidate genes. The experiment involved identifying genes expressed differentially in alcohol-induced and non-induced animals but the following list of candidate genes are only for alcohol-induced states. On mouse Chromosome 2, several candidate genes were identified for Actre2 at 48 cM,Actre3 at 63 cM, Actre4 at 65 cM, and Alcp1 at 37 cM. Candidate genes for Actre2 are Dlx1 (44 cM), Frzb (49.75 cM), D2Ertd391e, and Kai1 (49.6 cM). Candidate genes for Actre3 and Actre4 are Bdnf (62 cM) and Actc1 (64 cM), respectively. Candidate genes forAlcp1 are Pbx3 (22 cM), Hspa5 (22.5 cM), Rprm, Pkp4, and March7 (formerly Axot).
Alcp1	Chr2, 27.37 cM	Chr2:45228128-67838868	J:98595	Microarray analysis was used to identify genes showing alcohol-induced differential expression between inbred strains C57BL/6J and DBA/2J. These genes were then correlated to alcohol-related QTLs to identify potential candidate genes. The experiment involved identifying genes expressed differentially in alcohol-induced and non-induced animals but the following list of candidate genes are only for alcohol-induced states. On mouse Chromosome 2, several candidate genes were identified for Actre2 at 48 cM,Actre3 at 63 cM, Actre4 at 65 cM, and Alcp1 at 37 cM. Candidate genes for Actre2 are Dlx1 (44 cM), Frzb (49.75 cM), D2Ertd391e, and Kai1 (49.6 cM). Candidate genes for Actre3 and Actre4 are Bdnf (62 cM) and Actc1 (64 cM), respectively. Candidate genes forAlcp1 are Pbx3 (22 cM), Hspa5 (22.5 cM), Rprm, Pkp4, and March7 (formerly Axot).

*cM position of peak correlated region/marker