TRIM63
entrez
84676
canonical
uniprot
Q969Q1
canonical
ensembl
ENSG00000158022
resolver
ensp
ENSP00000363390
resolver
genesymbol
TRIM63
resolver
genesymbol_syn
IRF
resolver
genesymbol_syn
MURF1
resolver
genesymbol_syn
RNF28
resolver
genesymbol_syn
SMRZ
resolver
hgnc
HGNC:16007
resolver
uniprot
B4DN95
resolver
uniprot
Q5T2I1
resolver
uniprot
Q96BD3
resolver
uniprot
Q96KD9
resolver
uniprot
Q9BYV4
resolver
uniprot_entry
TRI63_HUMAN
resolver
uniprot_sec
B4DN95
resolver
uniprot_sec
Q5T2I1
resolver
uniprot_sec
Q96BD3
resolver
uniprot_sec
Q96KD9
resolver
uniprot_sec
Q9BYV4
resolver
amino_acid_sequence
MDYKSSLIQDGNPMENLEKQLICPICLEMFTKPVVILPCQHNLCRKCANDIFQAANPYWTSRGSSVSMSGGRFRCPTCRHEVIMDRHGVYGLQRNLLVENIIDIYKQECSSRPLQKGSHPMCKEHEDEKINIYCLTCEVPTCSMCKVFGIHKACEVAPLQSVFQGQKTELNNCISMLVAGNDRVQTIITQLEDSRRVTKENSHQVKEELSQKFDTLYAILDEKKSELLQRITQEQEKKLSFIEALIQQYQEQLDKSTKLVETAIQSLDEPGGATFLLTAKQLIKSIVEASKGCQLGKTEQGFENMDFFTLDLEHIADALRAIDFGTDEEEEEFIEEEDQEEEESTEGKEEGHQ
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, familial hypertrophic, 31 (CMH31) [MIM:621270]: A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH31 is an autosomal recessive form characterized by moderate to severe hypertrophy, high incidence of ventricular arrhythmias, extensive fibrosis, and frequent left ventricular dysfunction. {ECO:0000269|PubMed:22821932, ECO:0000269|PubMed:24865491, ECO:0000269|PubMed:25801283, ECO:0000269|PubMed:30372688, ECO:0000269|PubMed:32451364}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.27
uniprot
proteins
function
FUNCTION: 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, ECO:0000269|PubMed:22821932}.
uniprot
proteins
mass_dalton
40248
uniprot
proteins
mutagenesis
MUTAGEN 39; /note="C->A: Loss of SUMO2-binding."; /evidence="ECO:0000269|PubMed:11283016"; MUTAGEN 41; /note="H->A: Loss of SUMO2-binding."; /evidence="ECO:0000269|PubMed:11283016"; MUTAGEN 44; /note="C->A: Loss of SUMO2-binding."; /evidence="ECO:0000269|PubMed:11283016"; MUTAGEN 47; /note="C->A: Loss of SUMO2-binding."; /evidence="ECO:0000269|PubMed:11283016
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
pubmed
11243782
uniprot
proteins
pubmed
11283016
uniprot
proteins
pubmed
11679633
uniprot
proteins
pubmed
11927605
uniprot
proteins
pubmed
12107412
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18222470
uniprot
proteins
pubmed
18468620
uniprot
proteins
pubmed
18795805
uniprot
proteins
pubmed
22821932
uniprot
proteins
pubmed
24865491
uniprot
proteins
pubmed
25801283
uniprot
proteins
pubmed
26345447
uniprot
proteins
pubmed
30372688
uniprot
proteins
pubmed
32451364
uniprot
proteins
sequence_length
353
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus {ECO:0000250|UniProtKB:Q38HM4}. Cytoplasm, myofibril, sarcomere, M line. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:22821932}. Note=Colocalizes with TNNI3 in myocytes (By similarity).
uniprot
proteins