Actn3 actinin alpha 3 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Actn3provided by RGD
Official Full Name: actinin alpha 3provided by RGD
Primary source: RGD:621792
See related: EnsemblRapid:ENSRNOG00000019745 AllianceGenome:RGD:621792
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable actin filament binding activity; identical protein binding activity; and transmembrane transporter binding activity. Predicted to be 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. Predicted to be located in brush border; focal adhesion; and sarcomere. Predicted to be active in several cellular components, including Z disc; cell junction; and cortical actin cytoskeleton. Orthologous to human ACTN3 (actinin alpha 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward (RPKM 20238.2) See more
Orthologs: human mouse all
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Genomic context

Location:: 1q43

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (211588473..211604401, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (202159081..202175012, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (220120532..220136460, complement)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results support alpha-actinin adaptation at the isoform level and show that alpha-actinin-3 expression depends on the amount of type II myosin heavy chain.
Title: Effects of ageing and endurance exercise training on alpha-actinin isoforms in rat plantaris muscle.
Data identified ATP synthase subunit alpha and alpha actinin 3 as key partners of calpains during muscle aging.
Title: Proteomic study of calpain interacting proteins during skeletal muscle aging.
In contrast to alpha-actinin-3, exercise training increased alpha-actinin-2 expression levels in skeletal muscles, apparently related to the change to muscle with higher aerobic capacity.
Title: Different adaptations of alpha-actinin isoforms to exercise training in rat skeletal muscles.
These results indicate that alpha-actinin-3 levels increase concomitantly with increases in skeletal muscle fast fibers.
Title: Alpha-actinin-3 levels increase concomitantly with fast fibers in rat soleus muscle.

Submit: New GeneRIF Correction

General gene information

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Markers

D1Rat323 (e-PCR), detects polymorphism
- UniSTS:227130

Actn3 (e-PCR), detects polymorphism
- UniSTS:508357

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in focal adhesion assembly	ISO Inferred from Sequence Orthology more info
involved_in muscle cell development	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of calcineurin-NFAT signaling cascade	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cold-induced thermogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of glycolytic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of oxidative phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of relaxation of muscle	ISO Inferred from Sequence Orthology more info
NOT involved_in osteoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bone mineralization involved in bone maturation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of fast-twitch skeletal muscle fiber contraction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of glucose catabolic process to lactate via pyruvate	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of skeletal muscle fiber development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of skeletal muscle tissue growth	ISO Inferred from Sequence Orthology more info
involved_in regulation of aerobic respiration	ISO Inferred from Sequence Orthology more info
involved_in regulation of muscle system process	ISO Inferred from Sequence Orthology more info
involved_in regulation of the force of skeletal muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in response to denervation involved in regulation of muscle adaptation	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle atrophy	ISO Inferred from Sequence Orthology more info
involved_in transition between fast and slow fiber	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	ISO Inferred from Sequence Orthology more info
located_in brush border	ISO Inferred from Sequence Orthology more info
is_active_in cell junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cortical actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcomere	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: alpha-actinin-3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_133424.2 → NP_596915.1 alpha-actinin-3

See identical proteins and their annotated locations for NP_596915.1

Status: PROVISIONAL

Source sequence(s)

AF450248

UniProtKB/TrEMBL

F7FM00, Q8K551, Q8R4I6

Related

ENSRNOP00000026812.3, ENSRNOT00000026812.7

Conserved Domains (6) summary

cd00014
Location:158 → 263

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00051
Location:763 → 825

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:408 → 635

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00307
Location:45 → 143

CH; Calponin homology (CH) domain

pfam08726
Location:830 → 896

EFhand_Ca_insen; Ca2+ insensitive EF hand

pfam13499
Location:765 → 824

EF-hand_7; EF-hand domain pair