MATR3
MATR3MATR3 | |||||||||||||||||
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식별자 | |||||||||||||||||
별칭 | MATR3, ALS21, MPD2, VCPDM, Matrin 3 | ||||||||||||||||
외부 ID | OMIM: 164015 MGI: 1298379 HomoloGene: 7830 GeneCard: MATR3 | ||||||||||||||||
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직교체 | |||||||||||||||||
종 | 인간 | 마우스 | |||||||||||||||
엔트레스 | |||||||||||||||||
앙상블 | |||||||||||||||||
유니프로트 | |||||||||||||||||
RefSeq(mRNA) |
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RefSeq(단백질) |
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위치(UCSC) | n/a | n/a | |||||||||||||||
PubMed 검색 | [1] | [2] | |||||||||||||||
위키다타 | |||||||||||||||||
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Matrin-3는 인간에게 MATR3 유전자에 의해 암호화된 단백질이다.[3][4]
함수
이 유전자에 의해 인코딩된 단백질은 핵 매트릭스에 국부적이다.그것은 전사 역할을 할 수도 있고 내부 섬유질 네트워크를 형성하기 위해 다른 핵 매트릭스 단백질과 상호작용할 수도 있다.이 유전자에 대해 동일한 단백질을 인코딩하는 두 가지 대본 변형이 확인되었다.[4]
병리학
Matrin 3 유전자의 돌연변이는 가족성 근위축성 측경화증과 관련이 있다.[5]
참조
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Belgrader P, Dey R, Berezney R (Jun 1991). "Molecular cloning of matrin 3. A 125-kilodalton protein of the nuclear matrix contains an extensive acidic domain". J Biol Chem. 266 (15): 9893–9. doi:10.1016/S0021-9258(18)92902-9. PMID 2033075.
- ^ a b "Entrez Gene: MATR3 matrin 3".
- ^ Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ (2014). "Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis". Nat. Neurosci. 17 (5): 664–6. doi:10.1038/nn.3688. PMC 4000579. PMID 24686783.
추가 읽기
- Stuurman N; Meijne AM; van der Pol AJ; et al. (1990). "The nuclear matrix from cells of different origin. Evidence for a common set of matrix proteins". J. Biol. Chem. 265 (10): 5460–5. doi:10.1016/S0021-9258(19)39383-4. PMID 2180926.
- 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.
- 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.
- Okumara K; Nogami M; Matsushima Y; et al. (1998). "Mapping of human DNA-binding nuclear protein (NP220) to chromosome band 2p13.1-p13.2 and its relation to matrin 3". Biosci. Biotechnol. Biochem. 62 (8): 1640–2. doi:10.1271/bbb.62.1640. PMID 9757574.
- Nagase T; Ishikawa K; Suyama M; et al. (1999). "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 5 (5): 277–86. doi:10.1093/dnares/5.5.277. PMID 9872452.
- Hu RM; Han ZG; Song HD; et al. (2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning". Proc. Natl. Acad. Sci. U.S.A. 97 (17): 9543–8. Bibcode:2000PNAS...97.9543H. doi:10.1073/pnas.160270997. PMC 16901. PMID 10931946.
- Zhang Z, Carmichael GG (2001). "The fate of dsRNA in the nucleus: a p54(nrb)-containing complex mediates the nuclear retention of promiscuously A-to-I edited RNAs". Cell. 106 (4): 465–75. doi:10.1016/S0092-8674(01)00466-4. PMID 11525732. S2CID 18799711.
- Bernert G, Fountoulakis M, Lubec G (2003). "Manifold decreased protein levels of matrin 3, reduced motor protein HMP and hlark in fetal Down's syndrome brain". Proteomics. 2 (12): 1752–7. doi:10.1002/1615-9861(200212)2:12<1752::AID-PROT1752>3.0.CO;2-Y. PMID 12469345.
- Strausberg RL; Feingold EA; Grouse LH; et al. (2003). "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.
- Zhang C; Dowd DR; Staal A; et al. (2003). "Nuclear coactivator-62 kDa/Ski-interacting protein is a nuclear matrix-associated coactivator that may couple vitamin D receptor-mediated transcription and RNA splicing". J. Biol. Chem. 278 (37): 35325–36. doi:10.1074/jbc.M305191200. PMID 12840015.
- Leonard D, Ajuh P, Lamond AI, Legerski RJ (2003). "hLodestar/HuF2 interacts with CDC5L and is involved in pre-mRNA splicing". Biochem. Biophys. Res. Commun. 308 (4): 793–801. CiteSeerX 10.1.1.539.8359. doi:10.1016/S0006-291X(03)01486-4. PMID 12927788.
- 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.
- Beausoleil SA; Jedrychowski M; Schwartz D; et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Gerhard DS; Wagner L; Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
- Lim J; Hao T; Shaw C; et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
- Olsen JV; Blagoev B; Gnad F; et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
- Ewing RM; Chu P; Elisma F; et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
- Valencia CA, Ju W, Liu R (2007). "Matrin 3 is a Ca2+/calmodulin-binding protein cleaved by caspases". Biochem. Biophys. Res. Commun. 361 (2): 281–6. doi:10.1016/j.bbrc.2007.06.156. PMID 17658460.