DTNB

Este artículo trata sobre el gen y la proteína DTNB. Para la sustancia química , consulte el reactivo de Ellman .

DTNB
Identificadores
Alias	DTNB , distrobrevina beta
Identificaciones externas	OMIM : 602415 MGI : 1203728 HomoloGene : 74875 GeneCards : DTNB
Ubicación de genes ( humanos ) Chr. Cromosoma 2 (humano) [1] Banda 2p23.3 Comienzo 25.377.198 pb [1] Final 25,673,647 pb [1]
Ubicación de genes ( ratón ) Chr. Cromosoma 12 (ratón) [2] Banda 12 A1.1 | 12 1,88 cm Comienzo 3,572,381 bp[2] End 3,781,796 bp[2]
Orthologs
Species	Human	Mouse
Entrez	1838	13528
Ensembl	ENSG00000138101	ENSMUSG00000071454
UniProt	O60941	O70585
RefSeq (mRNA)	NM_001256303 NM_001256304 NM_001256308 NM_021907 NM_033147 NM_033148 NM_183360 NM_183361 NM_001320932 NM_001320933 NM_001320934 NM_001320935 NM_001320936 NM_001320937 NM_001351381 NM_001351382 NM_001351383 NM_001351384 NM_001351385 NM_001351386 NM_001351387 NM_001351388 NM_001351389 NM_001351390 NM_001351391 NM_001351392 NM_001351393 NM_001351394 NM_001351395	NM_001162465 NM_007886 NM_001355528 NM_001374710
RefSeq (protein)	NP_001243232 NP_001243233 NP_001243237 NP_001307861 NP_001307862 NP_001307863 NP_001307864 NP_001307865 NP_001307866 NP_068707 NP_149159 NP_149160 NP_899204 NP_899205 NP_001338310 NP_001338311 NP_001338312 NP_001338313 NP_001338314 NP_001338315 NP_001338316 NP_001338317 NP_001338318 NP_001338319 NP_001338320 NP_001338321 NP_001338322 NP_001338323 NP_001338324	NP_001155937 NP_031912 NP_001342457 NP_001361639
Location (UCSC)	Chr 2: 25.38 – 25.67 Mb	Chr 12: 3.57 – 3.78 Mb
PubMed search	[3]	[4]
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.^[5]

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.^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000138101 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000071454 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "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. S2CID 4427026.
• 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. S2CID 31934419.
• 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. S2CID 3005450.
• 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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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