Actn3 (actinin alpha 3) - Rat Genome Database

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Gene: Actn3 (actinin alpha 3) Mus musculus
Analyze
Symbol: Actn3
Name: actinin alpha 3
RGD ID: 734137
MGI Page MGI
Description: Enables actin filament binding activity. Involved in several processes, including positive regulation of skeletal muscle tissue development; regulation of generation of precursor metabolites and energy; and regulation of muscle system process. Located in Z disc and brush border. Is expressed in several structures, including autopod; skeletal musculature; testis; trunk myotome; and upper jaw incisor. Orthologous to human ACTN3 (actinin alpha 3).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-actinin skeletal muscle; alpha-actinin-3; F-actin cross-linking protein; MGC132876
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39194,911,244 - 4,927,937 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl194,911,244 - 4,927,937 (-)EnsemblGRCm39 Ensembl
GRCm38194,861,216 - 4,877,909 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl194,861,216 - 4,877,909 (-)EnsemblGRCm38mm10GRCm38
MGSCv37194,861,223 - 4,877,884 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36194,861,223 - 4,877,884 (-)NCBIMGSCv36mm8
Celera194,732,270 - 4,748,828 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map194.12NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. The alpha-Actinin Gene Family: A Revised Classification. Dixson JD, etal., J Mol Evol 2003 Jan;56(1):1-10.
2. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
3. MGDs mouse GO annotations MGD data from the GO Consortium
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Mouse MP Annotation Import Pipeline RGD automated import pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8613466   PMID:8618961   PMID:9268580   PMID:9438383   PMID:9730611   PMID:10349636   PMID:10922068   PMID:11042159   PMID:11076861   PMID:11114196   PMID:11217851   PMID:11381084  
PMID:11440986   PMID:12466851   PMID:12477932   PMID:12692149   PMID:12782671   PMID:12837758   PMID:14610273   PMID:15465019   PMID:15841212   PMID:16141072   PMID:16141073   PMID:16585392  
PMID:17332066   PMID:17828264   PMID:18178581   PMID:18425115   PMID:18637739   PMID:18650267   PMID:18799693   PMID:20089531   PMID:20215401   PMID:20368620   PMID:20487000   PMID:20699471  
PMID:20886650   PMID:21112313   PMID:21267068   PMID:21536590   PMID:21784188   PMID:21873635   PMID:21884692   PMID:22114352   PMID:22267199   PMID:22693585   PMID:22908310   PMID:24091322  
PMID:24234654   PMID:24550112   PMID:25590636   PMID:26681802   PMID:26802899   PMID:27184118   PMID:28139640   PMID:28293018   PMID:29688375   PMID:29706347   PMID:30457570   PMID:32325033  
PMID:32451822   PMID:33600773   PMID:33637766   PMID:34761268   PMID:35733150   PMID:36899856   PMID:37468485  


Genomics

Comparative Map Data
Actn3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39194,911,244 - 4,927,937 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl194,911,244 - 4,927,937 (-)EnsemblGRCm39 Ensembl
GRCm38194,861,216 - 4,877,909 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl194,861,216 - 4,877,909 (-)EnsemblGRCm38mm10GRCm38
MGSCv37194,861,223 - 4,877,884 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36194,861,223 - 4,877,884 (-)NCBIMGSCv36mm8
Celera194,732,270 - 4,748,828 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map194.12NCBI
ACTN3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381166,546,395 - 66,563,334 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1166,546,395 - 66,563,334 (+)EnsemblGRCh38hg38GRCh38
GRCh371166,313,866 - 66,330,805 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361166,070,967 - 66,087,373 (+)NCBINCBI36Build 36hg18NCBI36
Build 341166,070,966 - 66,087,373NCBI
Celera1163,634,667 - 63,651,076 (+)NCBICelera
Cytogenetic Map11q13.2NCBI
HuRef1162,641,774 - 62,658,713 (+)NCBIHuRef
CHM1_11166,197,591 - 66,214,532 (+)NCBICHM1_1
T2T-CHM13v2.01166,542,637 - 66,559,581 (+)NCBIT2T-CHM13v2.0
Actn3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81211,588,473 - 211,604,401 (-)NCBIGRCr8
mRatBN7.21202,159,081 - 202,175,012 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1202,159,082 - 202,175,012 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1210,512,172 - 210,528,076 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01217,604,503 - 217,620,434 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01210,295,523 - 210,311,455 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01220,120,532 - 220,136,460 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1220,120,533 - 220,136,470 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01227,051,530 - 227,067,458 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41207,475,569 - 207,492,267 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11207,629,022 - 207,645,720 (-)NCBI
Celera1199,698,703 - 199,714,632 (-)NCBICelera
Cytogenetic Map1q43NCBI
Actn3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542218,799,372 - 18,812,711 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542218,799,372 - 18,812,458 (-)NCBIChiLan1.0ChiLan1.0
ACTN3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2967,773,114 - 67,790,673 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11168,815,936 - 68,833,484 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01161,905,722 - 61,922,227 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11165,229,043 - 65,245,429 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1165,228,713 - 65,245,429 (+)Ensemblpanpan1.1panPan2
ACTN3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11850,787,353 - 50,801,036 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1850,787,353 - 50,801,197 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1849,396,057 - 49,409,780 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01851,819,196 - 51,832,924 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1851,819,196 - 51,832,713 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11850,920,215 - 50,933,937 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01850,500,258 - 50,513,996 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01851,290,188 - 51,303,909 (-)NCBIUU_Cfam_GSD_1.0
Actn3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049476,591,510 - 6,604,021 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365993,029,202 - 3,046,385 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365993,033,854 - 3,046,364 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACTN3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl25,860,391 - 5,874,124 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.125,860,386 - 5,873,779 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.224,936,279 - 4,949,682 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACTN3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.117,708,595 - 7,724,634 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl17,705,725 - 7,724,589 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038104,992,438 - 105,008,258 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Actn3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476719,844,884 - 19,858,950 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476719,844,996 - 19,859,274 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Actn3
553 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:344
Count of miRNA genes:269
Interacting mature miRNAs:301
Transcripts:ENSMUST00000006626, ENSMUST00000138811
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300776Lfp3_mlong free running period 3 (mouse)Not determined19120328703Mouse
4142161Drinksac2_mdrink saccharin 2 (mouse)Not determined120695286Mouse
4142302Nstr1_mnerve sheath tumor resistance QTL 1 (mouse)Not determined19122371338Mouse
1301271Datd_mdopamine transporter density (mouse)Not determined19132340234Mouse
4142406Pbctlp1_mperipheral blood cytotoxic T lymphocyte percentage 1 (mouse)Not determined132875174Mouse
1300904Chab5_mcholesterol absorption 5 (mouse)Not determined19165376435653927Mouse
26884385Skwq14_mskull length QTL 14, 16 week (mouse)19325000035877400Mouse
1301800Faq10_mfluctuating asymmetry QTL 10 (mouse)Not determined19332321637323348Mouse
1300923Bits4_mbitterness sensitivity 4 (mouse)Not determined19332321637323348Mouse
1302126Skull26_mskull morphology 26 (mouse)Not determined19332321637323348Mouse
1300591Pas3_mpulmonary adenoma susceptibility 3 (mouse)Not determined19332321637323348Mouse
1357819Tgct2_mtesticular germ cell tumor 2 (mouse)Not determined19332855120539663Mouse

Markers in Region
AI481912  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38194,860,780 - 4,860,873UniSTSGRCm38
MGSCv37194,860,780 - 4,860,873UniSTSGRCm37
Celera194,731,827 - 4,731,920UniSTS
Cytogenetic Map19AUniSTS
cM Map193.0UniSTS
Whitehead/MRC_RH1958.01UniSTS
Actn3  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38194,868,010 - 4,869,391UniSTSGRCm38
MGSCv37194,868,010 - 4,869,391UniSTSGRCm37
Celera194,739,054 - 4,740,302UniSTS
Cytogenetic Map19AUniSTS
cM Map193.0UniSTS
cM Map19 UniSTS
Actn3  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19AUniSTS
cM Map19 UniSTS


Expression


Sequence


RefSeq Acc Id: ENSMUST00000006626   ⟹   ENSMUSP00000006626
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl194,911,244 - 4,927,937 (-)Ensembl
GRCm38.p6 Ensembl194,861,216 - 4,877,909 (-)Ensembl
RefSeq Acc Id: ENSMUST00000138811
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl194,911,251 - 4,913,586 (-)Ensembl
GRCm38.p6 Ensembl194,861,223 - 4,863,558 (-)Ensembl
RefSeq Acc Id: NM_013456   ⟹   NP_038484
RefSeq Status: REVIEWED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39194,911,244 - 4,927,937 (-)NCBI
GRCm38194,861,216 - 4,877,909 (-)NCBI
MGSCv37194,861,223 - 4,877,884 (-)RGD
Celera194,732,263 - 4,748,853 (-)NCBI
cM Map19 ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_038484 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC62512 (Get FASTA)   NCBI Sequence Viewer  
  AAI11891 (Get FASTA)   NCBI Sequence Viewer  
  BAE22268 (Get FASTA)   NCBI Sequence Viewer  
  EDL33075 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSMUSP00000006626
  ENSMUSP00000006626.4
GenBank Protein O88990 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_038484   ⟸   NM_013456
- UniProtKB: Q14DS8 (UniProtKB/Swiss-Prot),   O88990 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000006626   ⟸   ENSMUST00000006626
Protein Domains
Calponin-homology (CH)   EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O88990-F1-model_v2 AlphaFold O88990 1-900 view protein structure

Promoters
RGD ID:6829770
Promoter ID:MM_KWN:26033
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Brain
Transcripts:OTTMUST00000039319
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36194,862,831 - 4,863,331 (-)MPROMDB
RGD ID:13678462
Promoter ID:EPDNEW_M23380
Type:multiple initiation site
Name:Actn3_1
Description:Mus musculus actinin alpha 3 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38194,877,892 - 4,877,952EPDNEW
RGD ID:6829768
Promoter ID:MM_KWN:26034
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day1,   Kidney,   MEF_B4,   MEF_B6
Transcripts:OTTMUST00000039318
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36194,878,336 - 4,878,836 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:99678 AgrOrtholog
Ensembl Genes ENSMUSG00000006457 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000006626 ENTREZGENE
  ENSMUST00000006626.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.418.10 UniProtKB/Swiss-Prot
  1.20.58.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Actinin_actin-bd_CS UniProtKB/Swiss-Prot
  CH-domain UniProtKB/Swiss-Prot
  CH_dom_sf UniProtKB/Swiss-Prot
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_Ca_insen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin/alpha-actinin UniProtKB/Swiss-Prot
  Spectrin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:11474 UniProtKB/Swiss-Prot
MGD MGI:99678 ENTREZGENE
NCBI Gene 11474 ENTREZGENE
PANTHER ALPHA-ACTININ-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPECTRIN/FILAMIN RELATED CYTOSKELETAL PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EFhand_Ca_insen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00307 UniProtKB/Swiss-Prot
  Spectrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Actn3 PhenoGen
PROSITE ACTININ_1 UniProtKB/Swiss-Prot
  ACTININ_2 UniProtKB/Swiss-Prot
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50021 UniProtKB/Swiss-Prot
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  efhand_Ca_insen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00033 UniProtKB/Swiss-Prot
  SPEC UniProtKB/Swiss-Prot
Superfamily-SCOP Spectrin repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47576 UniProtKB/Swiss-Prot
UniProt ACTN3_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q14DS8 ENTREZGENE
  Q3UYE4_MOUSE UniProtKB/TrEMBL
UniProt Secondary Q14DS8 UniProtKB/Swiss-Prot