랩

랩
식별자
에일리어스	NRAP, N-RAP, 네블린 관련 정착단백질
외부 ID	OMIM : 602873 MGI : 1098765 HomoloGene : 4499 GenCard : NRAP
유전자 위치(인간)
크르.	10번 염색체(인간)
끝.	113,664,070 bp
유전자 위치(마우스)
크르.	19번 염색체(쥐)
끝.	56,378,469 bp
RNA발현패턴
	상단 표시 위치:
	위근; ; 설체; ; 상완 삼두근; ; 흉부 횡격막; ; 심실; ; 좌심실; ; 우심실; ; 외측 광대근; ; 삼각근; ; 정강이뼈전근;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	액틴 결합; 금속 이온 결합; 근육 알파-액티닌 결합; GO:0001948 단백질 결합; 액틴 필라멘트 결합;
셀룰러 컴포넌트	근막 아데렌스; 근건 접합부; Z디스크;
생물학적 과정	생물학적 과정; 심근 얇은 필라멘트 조립체;
	출처:아미고 / QuickGO
맞춤법
	4892
	18175
	ENSG00000197893
	ENSMUSG00000049134
	Q86VF7
	Q80XB4
	NM_001261463; NM_006175; NM_198060; NM_001322945
	NM_001286552; NM_008733; NM_198059
	NP_001248392; NP_001309874; NP_006166; NP_932326
NP_001273481; NP_032759; NP_932307; NP_001390105; NP_001390107;
	NP_001390109; NP_001390113; NP_001390114; NP_001390115; NP_001390116; NP_001390117; NP_001390119; NP_001390120; NP_001390121; NP_001390122; NP_001390123; NP_001390124; NP_001390125
	위키데이터
인간 보기/편집	마우스 표시/편집

네블린 관련 앵커링 단백질(N-RAP)은 인간의 NRAP 유전자에 의해 암호화되는 단백질이다.N-RAP은 단백질의 네블린 패밀리에 속하는 근육 특이적 동질체이다.N-RAP, nebulin, nebullete, LASP-1, LASP-2의 5가지 구성원으로 구성되며, N-RAP은 발달 시 근섬유근생성과 성숙한 ^[5]^[6]^[7]^[8]근육의 세포접속 모두에 관여한다.

구조.

N-RAP은 1730개의 ^[9]^[10]아미노산으로 구성된 197kDa 단백질이다.N-RAP은 단백질의 네블린 패밀리의 멤버로서 보존된 SDxxYK ^[11]모티브를 포함한 액틴 결합 도메인인 35개의 아미노산 신장 "nebulin repeats"를 특징으로 한다.N-RAP 내의 7개의 단일 반복실험 그룹은 네블린과 마찬가지로 "슈퍼 반복실험"을 형성하며, 이는 세 ^[12]번째 반복실험 끝에 보존된 단일 모티브 WLKGIGW를 통합한다.NRAP의 N-말단 시스테인이 풍부한 LIM 도메인은 N-말단 시스테인이 풍부한 NRAP의 특징이며, LASP-1 및 ^[8]LASP-2와 공유되는 특징입니다.

기능.

심근세포가 발달하는 동안 근섬유 조직에서 N-RAP에 중요한 역할이 관여되어 왔다.N-RAP 단백질 수준의 저하가 배아 심근세포의 ^[13]근섬유 분해를 야기하므로 NRAP은 심근세포의 정상적인 근섬유 의존적 구성에 매우 중요하다.구체적으로는 NRAP 슈퍼리핏은 알파-액티닌과 액틴을 근섬유화 ^[14]전(前)의 육식 I-Z-I 복합체로 구성하기 위한 필수 골격일 수 있으며, 동적 이미징 연구 결과 N-RAP은 액티닌 얇은 ^[15]필라멘트가 완성되면 I-Z-I 복합체에서 이탈하는 것으로 나타났다.성인 심장 근육에서 N-RAP은 중간 치환된 디스크에 ^[16]열원소화하며, 여기서 말단 액틴 필라멘트를 육골막에 고정하는 기능을 합니다.성체 근육에서 그것의 역할은 세포외 ^[17]기질로의 힘 전달이라고 제안되어 왔다.

임상적 의의

N-RAP 돌연변이와 인간 심근병 사이에 알려진 직접적인 연관성은 없지만, N-RAP은 확장 심근증의 ^[18]^[19]쥐 모델에서 유의하게 상향 조절되는 것으로 나타났다.이는 확장형 심근증 동안 심근세포의 중간 디스크 접합부에서 얇은 필라멘트 구조의 무질서한 작용에 대한 수정에 대한 적응 반응으로 가정되었다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000197893 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000049134 - 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.
^ Mohiddin SA, Lu S, Cardoso JP, Carroll S, Jha S, Horowits R, Fananapazir L (Jul 2003). "Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle". Cell Motility and the Cytoskeleton. 55 (3): 200–12. doi:10.1002/cm.10123. PMID 12789664.
^ Luo G, Herrera AH, Horowits R (May 1999). "Molecular interactions of N-RAP, a nebulin-related protein of striated muscle myotendon junctions and intercalated disks". Biochemistry. 38 (19): 6135–43. doi:10.1021/bi982395t. PMID 10320340.
^ "Entrez Gene: NRAP nebulin-related anchoring protein".
^ ^a ^b Pappas CT, Bliss KT, Zieseniss A, Gregorio CC (Jan 2011). "The Nebulin family: an actin support group". Trends in Cell Biology. 21 (1): 29–37. doi:10.1016/j.tcb.2010.09.005. PMC 3014390. PMID 20951588.
^ "Nebulin-related-anchoring protein". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
^ Zong, N. C.; Li, H; Li, H; Lam, M. P.; Jimenez, R. C.; Kim, C. S.; Deng, N; Kim, A. K.; Choi, J. H.; Zelaya, I; Liem, D; Meyer, D; Odeberg, J; Fang, C; Lu, H. J.; Xu, T; Weiss, J; Duan, H; Uhlen, M; Yates Jr, 3rd; Apweiler, R; Ge, J; Hermjakob, H; Ping, P (2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
^ Labeit S, Gibson T, Lakey A, Leonard K, Zeviani M, Knight P, Wardale J, Trinick J (May 1991). "Evidence that nebulin is a protein-ruler in muscle thin filaments". FEBS Letters. 282 (2): 313–6. doi:10.1016/0014-5793(91)80503-u. PMID 2037050.
^ Labeit S, Kolmerer B (Apr 1995). "The complete primary structure of human nebulin and its correlation to muscle structure". Journal of Molecular Biology. 248 (2): 308–15. doi:10.1016/s0022-2836(95)80052-2. PMID 7739042.
^ Dhume A, Lu S, Horowits R (Aug 2006). "Targeted disruption of N-RAP gene function by RNA interference: a role for N-RAP in myofibril organization". Cell Motility and the Cytoskeleton. 63 (8): 493–511. doi:10.1002/cm.20141. PMID 16767749.
^ Carroll S, Lu S, Herrera AH, Horowits R (Jan 2004). "N-RAP scaffolds I-Z-I assembly during myofibrillogenesis in cultured chick cardiomyocytes". Journal of Cell Science. 117 (Pt 1): 105–14. doi:10.1242/jcs.00847. PMID 14657273.
^ Manisastry SM, Zaal KJ, Horowits R (Jul 2009). "Myofibril assembly visualized by imaging N-RAP, alpha-actinin, and actin in living cardiomyocytes". Experimental Cell Research. 315 (12): 2126–39. doi:10.1016/j.yexcr.2009.02.006. PMC 2742992. PMID 19233165.
^ Lu S, Borst DE, Horowits R (May 2005). "N-RAP expression during mouse heart development". Developmental Dynamics. 233 (1): 201–12. doi:10.1002/dvdy.20314. PMID 15765519. S2CID 22925166.
^ Luo G, Zhang JQ, Nguyen TP, Herrera AH, Paterson B, Horowits R (1997). "Complete cDNA sequence and tissue localization of N-RAP, a novel nebulin-related protein of striated muscle". Cell Motility and the Cytoskeleton. 38 (1): 75–90. doi:10.1002/(SICI)1097-0169(1997)38:1<75::AID-CM7>3.0.CO;2-G. PMID 9295142.
^ Sussman MA, Welch S, Cambon N, Klevitsky R, Hewett TE, Price R, Witt SA, Kimball TR (Jan 1998). "Myofibril degeneration caused by tropomodulin overexpression leads to dilated cardiomyopathy in juvenile mice". The Journal of Clinical Investigation. 101 (1): 51–61. doi:10.1172/JCI1167. PMC 508539. PMID 9421465.
^ Ehler E, Horowits R, Zuppinger C, Price RL, Perriard E, Leu M, Caroni P, Sussman M, Eppenberger HM, Perriard JC (May 2001). "Alterations at the intercalated disk associated with the absence of muscle LIM protein". The Journal of Cell Biology. 153 (4): 763–72. doi:10.1083/jcb.153.4.763. PMC 2192386. PMID 11352937.

추가 정보

Lanfranchi G, Muraro T, Caldara F, Pacchioni B, Pallavicini A, Pandolfo D, Toppo S, Trevisan S, Scarso S, Valle G (Jan 1996). "Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization". Genome Research. 6 (1): 35–42. doi:10.1101/gr.6.1.35. PMID 8681137.
Luo G, Zhang JQ, Nguyen TP, Herrera AH, Paterson B, Horowits R (1997). "Complete cDNA sequence and tissue localization of N-RAP, a novel nebulin-related protein of striated muscle". Cell Motility and the Cytoskeleton. 38 (1): 75–90. doi:10.1002/(SICI)1097-0169(1997)38:1<75::AID-CM7>3.0.CO;2-G. PMID 9295142.
Luo G, Leroy E, Kozak CA, Polymeropoulos MH, Horowits R (Oct 1997). "Mapping of the gene (NRAP) encoding N-RAP in the mouse and human genomes". Genomics. 45 (1): 229–32. doi:10.1006/geno.1997.4917. PMID 9339382.
Hartley JL, Temple GF, Brasch MA (Nov 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (Oct 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Witt SH, Granzier H, Witt CC, Labeit S (Jul 2005). "MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination". Journal of Molecular Biology. 350 (4): 713–22. doi:10.1016/j.jmb.2005.05.021. PMID 15967462.
Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (Jan 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.

외부 링크

를 클릭합니다"Mass spectrometry characterization of human NRAP". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB)..^[1]

^ Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (Oct 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–1053. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000197893 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000049134 - 앙상블, 2017년 5월

[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.

[pmid12789664-5] Mohiddin SA, Lu S, Cardoso JP, Carroll S, Jha S, Horowits R, Fananapazir L (Jul 2003). "Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle". Cell Motility and the Cytoskeleton. 55 (3): 200–12. doi:10.1002/cm.10123. PMID 12789664.

[pmid10320340-6] Luo G, Herrera AH, Horowits R (May 1999). "Molecular interactions of N-RAP, a nebulin-related protein of striated muscle myotendon junctions and intercalated disks". Biochemistry. 38 (19): 6135–43. doi:10.1021/bi982395t. PMID 10320340.

[entrez-7] "Entrez Gene: NRAP nebulin-related anchoring protein".

[pmid20951588-8] Pappas CT, Bliss KT, Zieseniss A, Gregorio CC (Jan 2011). "The Nebulin family: an actin support group". Trends in Cell Biology. 21 (1): 29–37. doi:10.1016/j.tcb.2010.09.005. PMC 3014390. PMID 20951588.

[url_COPaKB-9] "Nebulin-related-anchoring protein". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).

[10] Zong, N. C.; Li, H; Li, H; Lam, M. P.; Jimenez, R. C.; Kim, C. S.; Deng, N; Kim, A. K.; Choi, J. H.; Zelaya, I; Liem, D; Meyer, D; Odeberg, J; Fang, C; Lu, H. J.; Xu, T; Weiss, J; Duan, H; Uhlen, M; Yates Jr, 3rd; Apweiler, R; Ge, J; Hermjakob, H; Ping, P (2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.

[11] Labeit S, Gibson T, Lakey A, Leonard K, Zeviani M, Knight P, Wardale J, Trinick J (May 1991). "Evidence that nebulin is a protein-ruler in muscle thin filaments". FEBS Letters. 282 (2): 313–6. doi:10.1016/0014-5793(91)80503-u. PMID 2037050.

[pmid7739042-12] Labeit S, Kolmerer B (Apr 1995). "The complete primary structure of human nebulin and its correlation to muscle structure". Journal of Molecular Biology. 248 (2): 308–15. doi:10.1016/s0022-2836(95)80052-2. PMID 7739042.

[pmid16767749-13] Dhume A, Lu S, Horowits R (Aug 2006). "Targeted disruption of N-RAP gene function by RNA interference: a role for N-RAP in myofibril organization". Cell Motility and the Cytoskeleton. 63 (8): 493–511. doi:10.1002/cm.20141. PMID 16767749.

[pmid14657273-14] Carroll S, Lu S, Herrera AH, Horowits R (Jan 2004). "N-RAP scaffolds I-Z-I assembly during myofibrillogenesis in cultured chick cardiomyocytes". Journal of Cell Science. 117 (Pt 1): 105–14. doi:10.1242/jcs.00847. PMID 14657273.

[pmid19233165-15] Manisastry SM, Zaal KJ, Horowits R (Jul 2009). "Myofibril assembly visualized by imaging N-RAP, alpha-actinin, and actin in living cardiomyocytes". Experimental Cell Research. 315 (12): 2126–39. doi:10.1016/j.yexcr.2009.02.006. PMC 2742992. PMID 19233165.

[pmid15765519-16] Lu S, Borst DE, Horowits R (May 2005). "N-RAP expression during mouse heart development". Developmental Dynamics. 233 (1): 201–12. doi:10.1002/dvdy.20314. PMID 15765519. S2CID 22925166.

[pmid9295142-17] Luo G, Zhang JQ, Nguyen TP, Herrera AH, Paterson B, Horowits R (1997). "Complete cDNA sequence and tissue localization of N-RAP, a novel nebulin-related protein of striated muscle". Cell Motility and the Cytoskeleton. 38 (1): 75–90. doi:10.1002/(SICI)1097-0169(1997)38:1<75::AID-CM7>3.0.CO;2-G. PMID 9295142.

[pmid9421465-18] Sussman MA, Welch S, Cambon N, Klevitsky R, Hewett TE, Price R, Witt SA, Kimball TR (Jan 1998). "Myofibril degeneration caused by tropomodulin overexpression leads to dilated cardiomyopathy in juvenile mice". The Journal of Clinical Investigation. 101 (1): 51–61. doi:10.1172/JCI1167. PMC 508539. PMID 9421465.

[pmid11352937-19] Ehler E, Horowits R, Zuppinger C, Price RL, Perriard E, Leu M, Caroni P, Sussman M, Eppenberger HM, Perriard JC (May 2001). "Alterations at the intercalated disk associated with the absence of muscle LIM protein". The Journal of Cell Biology. 153 (4): 763–72. doi:10.1083/jcb.153.4.763. PMC 2192386. PMID 11352937.

[pmid23965338-20] Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (Oct 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–1053. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.

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