CSRP3
entrez
8048
canonical
uniprot
P50461
canonical
ensembl
ENSG00000129170
resolver
ensp
ENSP00000265968
resolver
ensp
ENSP00000497531
resolver
enst
ENST00000649842
resolver
genesymbol
CSRP3
resolver
genesymbol_syn
CLP
resolver
genesymbol_syn
MLP
resolver
hgnc
HGNC:2472
resolver
uniprot
A0A3B3ISZ2
resolver
uniprot
A2TDB8
resolver
uniprot
Q9P131
resolver
uniprot
S4S7M7
resolver
uniprot_entry
A0A3B3ISZ2_HUMAN
resolver
uniprot_entry
A2TDB8_HUMAN
resolver
uniprot_entry
CSRP3_HUMAN
resolver
uniprot_sec
Q9P131
resolver
uniprot_sec
S4S7M7
resolver
amino_acid_sequence
MPNWGGGAKCGACEKTVYHAEEIQCNGRSFHKTCFHCMACRKALDSTTVAAHESEIYCKVCYGRRYGPKGIGYGQGAGCLSTDTGEHLGLQFQQSPKPARSVTTSNPSKFTAKFGESEKCPRCGKSVYAAEKVMGGGKPWHKTCFRCAICGKSLESTNVTDKDGELYCKVCYAKNFGPTGIGFGGLTQQVEKKE
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, dilated, 1M (CMD1M) [MIM:607482]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:12507422, ECO:0000269|PubMed:18505755, ECO:0000269|PubMed:19412328}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, familial hypertrophic, 12 (CMH12) [MIM:612124]: A hereditary 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. {ECO:0000269|PubMed:12642359, ECO:0000269|PubMed:15205937, ECO:0000269|PubMed:18505755, ECO:0000269|PubMed:27353086}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Positive regulator of myogenesis. Acts as a cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Enhances the DNA-binding activity of the MYOD1:TCF3 isoform E47 complex and may promote formation of a functional MYOD1:TCF3 isoform E47:MEF2A complex involved in myogenesis (By similarity). Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-line structures. It is essential for calcineurin anchorage to the Z line. Required for stress-induced calcineurin-NFAT activation (By similarity). The role in regulation of cytoskeleton dynamics by association with CFL2 is reported conflictingly: Shown to enhance CFL2-mediated F-actin depolymerization dependent on the CSRP3:CFL2 molecular ratio, and also shown to reduce the ability of CLF1 and CFL2 to enhance actin depolymerization (PubMed:19752190, PubMed:24934443). Proposed to contribute to the maintenance of muscle cell integrity through an actin-based mechanism. Can directly bind to actin filaments, cross-link actin filaments into bundles without polarity selectivity and protect them from dilution- and cofilin-mediated depolymerization; the function seems to involve its self-association (PubMed:24934443). In vitro can inhibit PKC/PRKCA activity (PubMed:27353086). Proposed to be involved in cardiac stress signaling by down-regulating excessive PKC/PRKCA signaling (By similarity). {ECO:0000250|UniProtKB:P50462, ECO:0000250|UniProtKB:P50463, ECO:0000269|PubMed:19752190, ECO:0000269|PubMed:24934443, ECO:0000269|PubMed:27353086}.; FUNCTION: [Isoform 2]: May play a role in early sarcomere organization. Overexpression in myotubes negatively regulates myotube differentiation. By association with isoform 1 and thus changing the CSRP3 isoform 1:CFL2 stoichiometry is proposed to down-regulate CFL2-mediated F-actin depolymerization. {ECO:0000269|PubMed:24860983}.
uniprot
proteins
mass_dalton
20969
uniprot
proteins
mutagenesis
MUTAGEN 69; /note="K->R: Increases PKC/PRKCA activity."; /evidence="ECO:0000269|PubMed:27353086
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by PKC/PRKCA. {ECO:0000305|PubMed:27353086}.
uniprot
proteins
pubmed
12507422
uniprot
proteins
pubmed
12642359
uniprot
proteins
pubmed
15205937
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15582318
uniprot
proteins
pubmed
18505755
uniprot
proteins
pubmed
19230835
uniprot
proteins
pubmed
19412328
uniprot
proteins
pubmed
19752190
uniprot
proteins
pubmed
24860983
uniprot
proteins
pubmed
24934443
uniprot
proteins
pubmed
27353086
uniprot
proteins
pubmed
7490106
uniprot
proteins
sequence_length
194
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P50463}. Cytoplasm {ECO:0000269|PubMed:18505755}. Cytoplasm, cytoskeleton {ECO:0000305}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:24860983}. Cytoplasm, myofibril, sarcomere {ECO:0000269|PubMed:24934443}. Note=Nucleocytoplasmic shuttling protein. Mainly cytoplasmic. In the Z line, found associated with GLRX3 (By similarity). {ECO:0000250|UniProtKB:P50462, ECO:0000250|UniProtKB:P50463}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:24860983}.
uniprot
proteins