dystrobrevin alpha; DTN-A; alpha-dystrobrevin; dystrophin-related protein 3 (DTNA, DRP3)

Function

• may play role in:
  • formation & stability of synapses
  • clustering of nicotinic acetylcholine receptors
• phosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus (putative)
• interacts with dystrophin, utrophin & the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 & SNTG2
• isoform 7 & isoform 8 do not interact with dystrophin
• binds dystrobrevin binding protein 1

Structure

• the coiled coil domain mediates the interaction with dystrophin & utrophin (putative)
• belongs to the dystrophin family, Dystrobrevin subfamily
• contains 1 ZZ-type Zn+2 finger

Compartment

• cytoplasm
• cell junction, synapse

Alternative splicing

• named isoforms=8
• additional isoforms seem to exist

Expression

• highly expressed in brain, skeletal & cardiac muscles
• expressed at lower levels in lung, liver & pancreas
• isoform 2 is not expressed in cardiac muscle
• isoform 7 & isoform 8 are only expressed in muscle

Pathology

• defects in DTNA are the cause of
  • left ventricular non-compaction type 1 autosomal dominant
  • non-isolated left ventricular non-compaction

More general terms

• dystrobrevin
• zinc finger protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1837
• OMIM: https://mirror.omim.org/entry/601239
• OMIM: https://mirror.omim.org/entry/604169
• OMIM: https://mirror.omim.org/entry/606617
• UniProt: http://www.uniprot.org/uniprot/Q9Y4J8.html