InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LDB3

Summary

InnateDB Protein

IDBP-81005.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LDB3

Protein Name

LIM domain binding 3

Synonyms

CMD1C; CMPD3; CYPHER; LDB3Z1; LDB3Z4; LVNC3; MFM4; ORACLE; PDLIM6; ZASP;

Species

Homo sapiens

Ensembl Protein

ENSP00000263066

InnateDB Gene

IDBG-80995 (LDB3)

Protein Structure

UniProt Annotation

Function

May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton. {ECO:0000305}.

Subcellular Localization

Cytoplasm, perinuclear region {ECO:0000269PubMed:10427098}. Cell projection, pseudopodium {ECO:0000269PubMed:10427098}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:10427098}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269PubMed:10427098}. Note=Localized to the cytoplasm around nuclei and pseudopodia of undifferentiated cells and detected throughout the myotubes of differentiated cells. Colocalizes with ACTN2 at the Z-lines.

Disease Associations

Cardiomyopathy, dilated 1C (CMD1C) [MIM:601493]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. {ECO:0000269PubMed:14660611, ECO:0000269PubMed:14662268}. Note=The disease is caused by mutations affecting the gene represented in this entry.Left ventricular non-compaction 3 (LVNC3) [MIM:601493]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.Myopathy, myofibrillar, 4 (MFM4) [MIM:609452]: A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed primarily in skeletal muscle and to a lesser extent in heart. Also detected in brain and placenta. {ECO:0000269PubMed:10427098}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.