DTNA

Dystrobrevin, alpha
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2E5R​
Identifiers
Symbols	DTNA ; D18S892E; DRP3; DTN; DTN-A; LVNC1
External IDs	OMIM: 601239 MGI: 106039 HomoloGene: 20362 GeneCards: DTNA Gene
Gene ontology Molecular function • protein binding • zinc ion binding • PDZ domain binding Cellular component • cytoplasm • cell junction • axon • extrinsic component of cytoplasmic side of plasma membrane • sarcolemma • protein complex • synapse Biological process • striated muscle contraction • signal transduction • synaptic transmission • neuromuscular synaptic transmission Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1837	13527
Ensembl	ENSG00000134769	ENSMUSG00000024302
UniProt	Q9Y4J8	Q9D2N4
RefSeq (mRNA)	NM_001128175	NM_001285807
RefSeq (protein)	NP_001121647	NP_001272736
Location (UCSC)	Chr 18: 34.49 – 34.89 Mb	Chr 18: 23.42 – 23.66 Mb
PubMed search

Dystrobrevin alpha is a protein that in humans is encoded by the DTNA gene.^[1][2][3]

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.^[3]

Clinical significance

Mutations in DTNA are associated to Meniere's disease .^[4]

Interactions

DTNA has been shown to interact with dystrophin.^[5]

See also

• Dystrobrevin

References

1. Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA, Kunkel LM (Oct 1994). "(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein". Hum Mol Genet 3 (5): 841. doi:10.1093/hmg/3.5.841-a. PMID 8081380.
2. Sjö A, Magnusson KE, Peterson KH (Apr 2005). "Association of alpha-dystrobrevin with reorganizing tight junctions". J Membr Biol 203 (1): 21–30. doi:10.1007/s00232-004-0728-1. PMID 15834686.
3. "Entrez Gene: DTNA dystrobrevin, alpha".
4. Requena T, Cabrera S, Martín-Sierra C, Price SD, Lysakowski A, Lopez-Escamez JA (2014). "Identification of two novel mutations in FAM136A and DTNA genes in autosomal dominant familial Meniere's disease". Human Molecular Genetics. doi:10.1093/hmg/ddu524. PMID 25305078.
5. Sadoulet-Puccio HM, Rajala M, Kunkel LM (Nov 1997). "Dystrobrevin and dystrophin: An interaction through coiled-coil motifs". Proc. Natl. Acad. Sci. U.S.A. 94 (23): 12413–8. doi:10.1073/pnas.94.23.12413. PMC 24974. PMID 9356463.

Further reading

• Straub V, Campbell KP (1997). "Muscular dystrophies and the dystrophin-glycoprotein complex". Current Opinion in Neurology 10 (2): 168–75. doi:10.1097/00019052-199704000-00016. PMID 9146999.
• Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M (1998). "From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy". Muscle Nerve 21 (4): 421–38. doi:10.1002/(SICI)1097-4598(199804)21:4<421::AID-MUS1>3.0.CO;2-B. PMID 9533777.
• Blake DJ (2002). "Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy?". Neuromuscul. Disord. 12 Suppl 1: S110–7. doi:10.1016/S0960-8966(02)00091-3. PMID 12206805.
• Ahn AH, Kunkel LM (1995). "Syntrophin binds to an alternatively spliced exon of dystrophin". J. Cell Biol. 128 (3): 363–71. doi:10.1083/jcb.128.3.363. PMC 2120343. PMID 7844150.
• Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM (1996). "The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives". J. Biol. Chem. 271 (5): 2724–30. doi:10.1074/jbc.271.5.2724. PMID 8576247.
• Blake DJ, Nawrotzki R, Peters MF, Froehner SC, Davies KE (1996). "Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein". J. Biol. Chem. 271 (13): 7802–10. doi:10.1074/jbc.271.13.7802. PMID 8631824.
• Sadoulet-Puccio HM, Khurana TS, Cohen JB, Kunkel LM (1996). "Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane". Hum. Mol. Genet. 5 (4): 489–96. doi:10.1093/hmg/5.4.489. PMID 8845841.
• Ambrose HJ, Blake DJ, Nawrotzki RA, Davies KE (1997). "Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene". Genomics 39 (3): 359–69. doi:10.1006/geno.1996.4515. PMID 9119373.
• Metzinger L, Blake DJ, Squier MV, Anderson LV, Deconinck AE, Nawrotzki R, Hilton-Jones D, Davies KE (1997). "Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy". Hum. Mol. Genet. 6 (7): 1185–91. doi:10.1093/hmg/6.7.1185. PMID 9215691.
• Sadoulet-Puccio HM, Rajala M, Kunkel LM (1997). "Dystrobrevin and dystrophin: An interaction through coiled-coil motifs". Proc. Natl. Acad. Sci. U.S.A. 94 (23): 12413–8. doi:10.1073/pnas.94.23.12413. PMC 24974. PMID 9356463.
• Blake DJ, Nawrotzki R, Loh NY, Górecki DC, Davies KE (1998). "β-dystrobrevin, a member of the dystrophin-related protein family". Proc. Natl. Acad. Sci. U.S.A. 95 (1): 241–6. doi:10.1073/pnas.95.1.241. PMC 18188. PMID 9419360.
• Nawrotzki R, Loh NY, Ruegg MA, Davies KE, Blake DJ (1999). "Characterisation of alpha-dystrobrevin in muscle". J. Cell. Sci. 111 (17): 2595–605. PMID 9701558.
• Blake DJ, Hawkes R, Benson MA, Beesley PW (1999). "Different Dystrophin-like Complexes Are Expressed in Neurons and Glia". J. Cell Biol. 147 (3): 645–58. doi:10.1083/jcb.147.3.645. PMC 2151186. PMID 10545507.
• Sadoulet-Puccio HM, Feener CA, Schaid DJ, Thibodeau SN, Michels VV, Kunkel LM (2000). "The genomic organization of human dystrobrevin". Neurogenetics 1 (1): 37–42. doi:10.1007/s100480050006. PMID 10735273.
• Piluso G, Mirabella M, Ricci E, Belsito A, Abbondanza C, Servidei S, Puca AA, Tonali P, Puca GA, Nigro V (2000). "Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells". J. Biol. Chem. 275 (21): 15851–60. doi:10.1074/jbc.M000439200. PMID 10747910.
• Yoshida M, Hama H, Ishikawa-Sakurai M, Imamura M, Mizuno Y, Araishi K, Wakabayashi-Takai E, Noguchi S, Sasaoka T, Ozawa E (2000). "Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy". Hum. Mol. Genet. 9 (7): 1033–40. doi:10.1093/hmg/9.7.1033. PMID 10767327.
• Tommasi di Vignano A, Di Zenzo G, Sudol M, Cesareni G, Dente L (2000). "Contribution of the different modules in the utrophin carboxy-terminal region to the formation and regulation of the DAP complex". FEBS Lett. 471 (2–3): 229–34. doi:10.1016/S0014-5793(00)01400-9. PMID 10767429.