Entrez Summary: This gene encodes a member of the RING zinc finger protein family found in striated muscle and iris. The product of this gene is an E3 ubiquitin ligase that localizes to the Z-line and M-line lattices of myofibrils. This protein plays an important role in the atrophy of skeletal and cardiac muscle and is required for the degradation of myosin heavy chain proteins, myosin light chain, myosin binding protein, and for muscle-type creatine kinase. [provided by RefSeq, Feb 2012].
UniProt Summary: E3 ubiquitin ligase. Mediates the ubiquitination and subsequent proteasomal degradation of CKM, GMEB1 and HIBADH. Regulates the proteasomal degradation of muscle proteins under amino acid starvation, where muscle protein is catabolized to provide other organs with amino acids. Inhibits de novo skeletal muscle protein synthesis under amino acid starvation. Regulates proteasomal degradation of cardiac troponin I/TNNI3 and probably of other sarcomeric-associated proteins. May play a role in striated muscle atrophy and hypertrophy by regulating an anti- hypertrophic PKC-mediated signaling pathway. May regulate the organization of myofibrils through TTN in muscle cells. {ECO:0000269|PubMed:11927605, ECO:0000269|PubMed:18222470}.
Pfam DomainsGO Terms
Pfam Domains
zf-B box
zf-C3HC4
GO Terms
response to electrical stimulus involved in regulation of muscle adaptation
skeletal muscle atrophy
striated muscle atrophy
muscle atrophy
skeletal muscle adaptation
titin binding
response to stimulus involved in regulation of muscle adaptation
negative regulation of cardiac muscle hypertrophy
striated muscle adaptation
M band
negative regulation of muscle hypertrophy
muscle adaptation
response to electrical stimulus
regulation of cardiac muscle hypertrophy
regulation of muscle hypertrophy
regulation of muscle adaptation
Z disc
response to glucocorticoid
response to corticosteroid
response to interleukin-1
regulation of muscle system process
ubiquitin-protein transferase activity
muscle contraction
muscle system process
microtubule
response to steroid hormone
regulation of system process
protein ubiquitination
protein modification by small protein conjugation
zinc ion binding
response to lipid
response to hormone
response to organic cyclic compound
protein modification by small protein conjugation or removal
response to cytokine
response to abiotic stimulus
negative regulation of multicellular organismal process
response to endogenous stimulus
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)