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dystrobrevin alpha; DTN-A; alpha-dystrobrevin; dystrophin-related protein 3 (DTNA, DRP3)
Function:
- may play role in:
a) formation & stability of synapses
b) 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
a) left ventricular non-compaction type 1 autosomal dominant
b) non-isolated left ventricular non-compaction
General
dystrobrevin
phosphoprotein
zinc finger protein
Properties
SIZE: entity length = 743 aa
MW = 84 kD
COMPARTMENT: cytoplasm
MOTIF: Zn finger ZZ-type
NAME: Zn finger ZZ-type
SITE: 237-284
EFFECTOR-BOUND: Zn+2
binding site
SITE: 400-450
FOR-BINDING-OF: syntrophin
coiled coil {461-556}
Ser phosphorylation site {S662}
Database Correlations
OMIM correlations
UniProt Q9Y4J8
PFAM correlations
Entrez Gene 1837
References
- UniProt :accession Q9Y4J8
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/DTNA
- OMIM :accession 601239
- Entrez Gene :accession 1837