InnateDB Protein
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IDBP-593248.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CSRP3
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Protein Name
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cysteine and glycine-rich protein 3 (cardiac LIM protein)
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Synonyms
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CLP; CMD1M; CMH12; CRP3; LMO4; MLP;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000431813
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InnateDB Gene
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IDBG-35519 (CSRP3)
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Protein Structure
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Function |
Positive regulator of myogenesis. 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). {ECO:0000250}.
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Subcellular Localization |
Nucleus {ECO:0000305}. Cytoplasm {ECO:0000269PubMed:18505755}. Cytoplasm, cytoskeleton {ECO:0000305}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250}. Note=Mainly cytoplasmic (By similarity). In the nucleus it associates with the actin cytoskeleton (Potential). In the Z line, found associated with GLRX3 (By similarity). {ECO:0000250, ECO:0000305}.
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Disease Associations |
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:0000269PubMed:12507422}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:12642359, ECO:0000269PubMed:18505755}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Cardiac and slow-twitch skeletal muscles.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
12
[view]
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Protein-Protein |
11
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001781
Zinc finger, LIM-type
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PFAM |
PF00412
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PRINTS |
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PIRSF |
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SMART |
SM00132
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TIGRFAMs |
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Modification |
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SwissProt |
P50461
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PhosphoSite |
PhosphoSite-P50461
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TrEMBL |
A2TDB8
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UniProt Splice Variant |
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Entrez Gene |
8048
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UniGene |
Hs.83577
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RefSeq |
NP_003467
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HUGO |
HGNC:2472
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OMIM |
600824
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CCDS |
CCDS7848
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HPRD |
07525
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IMGT |
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EMBL |
AF121260
AK313289
BC005900
BC024010
BC057221
CH471064
EF179182
U20324
U49837
U72894
U72895
U72896
U72897
U72898
U72899
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GenPept |
AAA91104
AAA92571
AAD00183
AAD00189
AAF28868
AAH05900
AAH24010
AAH57221
ABN05285
BAG36097
EAW68355
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