InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DTNA

Summary

InnateDB Protein

IDBP-231315.6

Last Modified

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

Gene Symbol

DTNA

Protein Name

dystrobrevin, alpha

Synonyms

D18S892E; DRP3; DTN; DTN-A; LVNC1;

Species

Homo sapiens

Ensembl Protein

ENSP00000382072

InnateDB Gene

IDBG-2362 (DTNA)

Protein Structure

UniProt Annotation

Function

May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.

Subcellular Localization

Cytoplasm. Cell junction, synapse. Cell membrane {ECO:0000250}. Note=In peripheral nerves, colocalizes with MAGEE1 in the Schwann cell membrane. {ECO:0000250}.

Disease Associations

Left ventricular non-compaction 1 (LVNC1) [MIM:604169]: 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 such as ventricular septal defects, pulmonic stenosis and atrial septal defects. The right ventricle may also be affected. {ECO:0000269PubMed:11238270}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in brain, skeletal and cardiac muscles, and expressed at lower levels in lung, liver and pancreas. Isoform 2 is not expressed in cardiac muscle. Isoform 7 and isoform 8 are only expressed in muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.