SPTBN2
SPTBN2| SPTBN2 | |||||||||||||||||||||||||
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| 식별자 | |||||||||||||||||||||||||
| 별칭 | SPTBN2, GTRAP41, SCA5, SCAR14, 분광 베타, 비 적혈구 2 | ||||||||||||||||||||||||
| 외부 ID | OMIM: 604985 MGI: 1313261 HomoloGene: 48482 GeneCard: SPTBN2 | ||||||||||||||||||||||||
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| 직교체 | |||||||||||||||||||||||||
| 종 | 인간 | 마우스 | |||||||||||||||||||||||
| 엔트레스 | |||||||||||||||||||||||||
| 앙상블 | |||||||||||||||||||||||||
| 유니프로트 | |||||||||||||||||||||||||
| RefSeq(mRNA) | |||||||||||||||||||||||||
| RefSeq(단백질) | |||||||||||||||||||||||||
| 위치(UCSC) | Chr 11: 66.68 – 66.74Mb | Cr 19: 4.71 – 4.75Mb | |||||||||||||||||||||||
| PubMed 검색 | [3] | [4] | |||||||||||||||||||||||
| 위키다타 | |||||||||||||||||||||||||
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스펙트린 베타 체인, 브레인 2는 인간에게 있어서 SPTBN2 유전자에 의해 암호화된 단백질이다.[5][6][7]
임상적 유의성
이 유전자의 돌연변이는 스피노세레벨라 아탁시아 타입 5와 관련이 있다.
상호작용
SPTBN2는 다음과 상호 작용하는 것으로 나타났다.
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000173898 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000067889 - 앙상블, 2017년 5월
- ^ "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.
- ^ Stankewich MC, Tse WT, Peters LL, Ch'ng Y, John KM, Stabach PR, Devarajan P, Morrow JS, Lux SE (Dec 1998). "A widely expressed βIII spectrin associated with Golgi and cytoplasmic vesicles". Proc Natl Acad Sci U S A. 95 (24): 14158–63. Bibcode:1998PNAS...9514158S. doi:10.1073/pnas.95.24.14158. PMC 24343. PMID 9826670.
- ^ Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP (January 2006). "Spectrin mutations cause spinocerebellar ataxia type 5". Nat Genet. 38 (2): 184–90. doi:10.1038/ng1728. PMID 16429157. S2CID 35280646.
- ^ "Entrez Gene: SPTBN2 spectrin, beta, non-erythrocytic 2".
- ^ a b Mao B, Wu W, Li Y, Hoppe D, Stannek P, Glinka A, Niehrs C (May 2001). "LDL-receptor-related protein 6 is a receptor for Dickkopf proteins". Nature. 411 (6835): 321–5. Bibcode:2001Natur.411..321M. doi:10.1038/35077108. PMID 11357136. S2CID 4323027.
- ^ a b Holleran EA, Ligon LA, Tokito M, Stankewich MC, Morrow JS, Holzbaur EL (September 2001). "beta III spectrin binds to the Arp1 subunit of dynactin". J. Biol. Chem. 276 (39): 36598–605. doi:10.1074/jbc.M104838200. PMID 11461920.
- ^ Sakaguchi G, Orita S, Naito A, Maeda M, Igarashi H, Sasaki T, Takai Y (July 1998). "A novel brain-specific isoform of beta spectrin: isolation and its interaction with Munc13". Biochem. Biophys. Res. Commun. 248 (3): 846–51. doi:10.1006/bbrc.1998.9067. PMID 9704016.
추가 읽기
- De Matteis MA, Morrow JS (2000). "Spectrin tethers and mesh in the biosynthetic pathway". J. Cell Sci. 113 (13): 2331–43. doi:10.1242/jcs.113.13.2331. PMID 10852813.
- Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM (1995). "Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11". Nat. Genet. 8 (3): 280–4. doi:10.1038/ng1194-280. PMID 7874171. S2CID 3133154.
- Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
- Ohara O, Ohara R, Yamakawa H, Nakajima D, Nakayama M (1998). "Characterization of a new beta-spectrin gene which is predominantly expressed in brain". Brain Res. Mol. Brain Res. 57 (2): 181–92. doi:10.1016/S0169-328X(98)00068-0. PMID 9675416.
- Sakaguchi G, Orita S, Naito A, Maeda M, Igarashi H, Sasaki T, Takai Y (1998). "A novel brain-specific isoform of beta spectrin: isolation and its interaction with Munc13". Biochem. Biophys. Res. Commun. 248 (3): 846–51. doi:10.1006/bbrc.1998.9067. PMID 9704016.
- Holleran EA, Ligon LA, Tokito M, Stankewich MC, Morrow JS, Holzbaur EL (2001). "beta III spectrin binds to the Arp1 subunit of dynactin". J. Biol. Chem. 276 (39): 36598–605. doi:10.1074/jbc.M104838200. PMID 11461920.
- Shoeman RL, Hartig R, Hauses C, Traub P (2003). "Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease". Cell Biol. Int. 26 (6): 529–39. doi:10.1006/cbir.2002.0895. PMID 12119179. S2CID 39778155.
- Nakayama M, Kikuno R, Ohara O (2003). "Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
- Bignone PA, Baines AJ (2003). "Spectrin alpha II and beta II isoforms interact with high affinity at the tetramerization site". Biochem. J. 374 (Pt 3): 613–24. doi:10.1042/BJ20030507. PMC 1223645. PMID 12820899.
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (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.
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