DTNB
This article is about the DTNB gene and protein. For the chemical substance, see Ellman's reagent.
| DTNB | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
| Aliases | DTNB | |||||
| External IDs | MGI: 1203728 HomoloGene: 74875 GeneCards: DTNB | |||||
| Genetically Related Diseases | ||||||
| multiple myeloma, coronary artery disease[1] | ||||||
| Orthologs | ||||||
| Species | Human | Mouse | ||||
| Entrez | ||||||
| Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) |
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| RefSeq (protein) |
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| Location (UCSC) | Chr 2: 25.38 – 25.67 Mb | Chr 12: 3.57 – 3.78 Mb | ||||
| PubMed search | [2] | [3] | ||||
| Wikidata | ||||||
| View/Edit Human | View/Edit Mouse |
Beta dystrobrevin also known as DTNB is a protein which in humans is encoded by the DTNB gene.[4]
Function
This gene encodes dystrobrevin beta, 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 dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. Alternatively spliced transcript variants encoding different isoforms have been identified.[5]
References
- ↑ "Diseases that are genetically associated with DTNB view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Blake DJ, Nawrotzki R, Loh NY, Górecki DC, Davies KE (January 1998). "beta-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. - ↑ "Entrez Gene: DTNB dystrobrevin, beta".
Further reading
- 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.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
- Piluso G, Mirabella M, Ricci E, et al. (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.
- Puca AA, Nigro V, Piluso G, et al. (1998). "Identification and characterization of a novel member of the dystrobrevin gene family.". FEBS Lett. 425 (1): 7–13. doi:10.1016/S0014-5793(98)00097-0. PMID 9540997.
- Macioce P, Gambara G, Bernassola M, et al. (2003). "Beta-dystrobrevin interacts directly with kinesin heavy chain in brain.". J. Cell. Sci. 116 (Pt 23): 4847–56. doi:10.1242/jcs.00805. PMID 14600269.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene. 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Straub V, Campbell KP (1997). "Muscular dystrophies and the dystrophin-glycoprotein complex.". Curr. Opin. Neurol. 10 (2): 168–75. doi:10.1097/00019052-199704000-00016. PMID 9146999.
- Nazarian R, Starcevic M, Spencer MJ, Dell'Angelica EC (2006). "Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein.". Biochem. J. 395 (3): 587–98. doi:10.1042/BJ20051965. PMC 1462696. PMID 16448387.
- Gudbjartsson DF, Walters GB, Thorleifsson G, et al. (2008). "Many sequence variants affecting diversity of adult human height.". Nat. Genet. 40 (5): 609–15. doi:10.1038/ng.122. PMID 18391951.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Albrecht DE, Froehner SC (2004). "DAMAGE, a novel alpha-dystrobrevin-associated MAGE protein in dystrophin complexes.". J. Biol. Chem. 279 (8): 7014–23. doi:10.1074/jbc.M312205200. PMID 14623885.
- Peters MF, O'Brien KF, Sadoulet-Puccio HM, et al. (1997). "beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations.". J. Biol. Chem. 272 (50): 31561–9. doi:10.1074/jbc.272.50.31561. PMID 9395493.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene. 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Benson MA, Newey SE, Martin-Rendon E, et al. (2001). "Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain.". J. Biol. Chem. 276 (26): 24232–41. doi:10.1074/jbc.M010418200. PMID 11316798.
- Hillman RT, Green RE, Brenner SE (2004). "An unappreciated role for RNA surveillance.". Genome Biol. 5 (2): R8. doi:10.1186/gb-2004-5-2-r8. PMC 395752. PMID 14759258.
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