Dystrobrevin alpha

Dystrobrevin alpha is a protein that in humans is encoded by the DTNA gene.^[5][6][7]

DTNA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2E5R
Identifiers
Aliases	DTNA, D18S892E, DRP3, DTN, DTN-A, LVNC1, dystrobrevin alpha
External IDs	OMIM: 601239; MGI: 106039; HomoloGene: 20362; GeneCards: DTNA; OMA:DTNA - orthologs
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18q12.1 Start 34,493,290 bp[1] End 34,891,844 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18 A2|18 12.08 cM Start 23,415,135 bp[2] End 23,659,715 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in internal globus pallidus C1 segment external globus pallidus nucleus accumbens amygdala superior vestibular nucleus caudate nucleus right frontal lobe corpus callosum putamen Top expressed in saccule cerebellar vermis Rostral migratory stream lobe of cerebellum mammillary body median eminence arcuate nucleus dorsal tegmental nucleus lateral geniculate nucleus olfactory tubercle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function zinc ion binding protein binding metal ion binding PDZ domain binding Cellular component cytoplasm extrinsic component of cytoplasmic side of plasma membrane cell junction axon sarcolemma plasma membrane cell projection synapse membrane protein-containing complex Biological process neuromuscular synaptic transmission striated muscle contraction signal transduction chemical synaptic transmission Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1837 13527 Ensembl ENSG00000134769 ENSMUSG00000024302 UniProt Q9Y4J8 Q9D2N4 RefSeq (mRNA) NM_001128175 NM_001198938 NM_001198939 NM_001198940 NM_001198941 NM_001198942 NM_001198943 NM_001198944 NM_001198945 NM_001390 NM_001391 NM_001392 NM_032975 NM_032978 NM_032979 NM_032980 NM_032981 NM_001285807 NM_001285808 NM_001285810 NM_001285811 NM_001285813 NM_001285817 NM_010087 NM_207650 NM_001361215 NM_001361216 NM_001361217 RefSeq (protein) NP_001121647 NP_001185867 NP_001185868 NP_001185869 NP_001185870 NP_001185871 NP_001185872 NP_001185873 NP_001185874 NP_001381 NP_001382 NP_001383 NP_116757 NP_116760 NP_116761 NP_116762 NP_116763 NP_001272736 NP_001272737 NP_001272739 NP_001272740 NP_001272742 NP_001272746 NP_034217 NP_997533 NP_001348144 NP_001348145 NP_001348146 Location (UCSC) Chr 18: 34.49 – 34.89 Mb Chr 18: 23.42 – 23.66 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene belongs to the dystrobrevin subfamily and the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. This protein may be involved in the formation and stability of synapses as well as the clustering of nicotinic acetylcholine receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.^[7]

Clinical significance

Mutations in DTNA are associated with Ménière's disease.^[8][9]

Interactions

Dystrobrevin has been shown to interact with dystrophin.^[10]