ACTN3

Gene Information

Official Symbol: ACTN3
Official Name: actinin alpha 3 (gene/pseudogene)
Aliases and Previous Symbols: N/A
Entrez ID: 89
UniProt: Q08043
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014].
UniProt Summary: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Essentiality in NALM6

Essentiality Rank: 15215
Expression level (log2 read counts): -0.26

Expression Distribution

CH
CAMSAP CH
efhand Ca insen
Spectrin

positive regulation of glucose catabolic process to lactate via pyruvate
positive regulation of NAD metabolic process
regulation of the force of skeletal muscle contraction
regulation of skeletal muscle contraction by chemo-mechanical energy conversion
positive regulation of skeletal muscle tissue growth
regulation of glucose catabolic process to lactate via pyruvate
regulation of NAD metabolic process
regulation of fermentation
regulation of skeletal muscle tissue growth
negative regulation of oxidative phosphorylation
skeletal muscle atrophy
striated muscle atrophy
transition between fast and slow fiber
regulation of aerobic respiration
muscle atrophy
response to muscle inactivity involved in regulation of muscle adaptation
response to denervation involved in regulation of muscle adaptation
response to muscle inactivity
skeletal muscle adaptation
regulation of skeletal muscle contraction
negative regulation of glycolytic process
negative regulation of calcineurin-mediated signaling
response to inactivity
negative regulation of calcineurin-NFAT signaling cascade
response to stimulus involved in regulation of muscle adaptation
regulation of skeletal muscle adaptation
pseudopodium
negative regulation of purine nucleotide metabolic process
negative regulation of nucleotide metabolic process
negative regulation of ATP metabolic process
positive regulation of skeletal muscle tissue development
cell-substrate adherens junction assembly
striated muscle adaptation
focal adhesion assembly
negative regulation of calcium-mediated signaling
regulation of cellular respiration
regulation of oxidative phosphorylation
muscle adaptation
regulation of calcineurin-mediated signaling
regulation of calcineurin-NFAT signaling cascade