디스토닌

DST
사용 가능한 구조물
PDB	휴먼 유니프로트 검색: PDBe RCSB
PDB ID 코드 목록
	3GJO
식별자
별칭	DST, BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, EBSB2, HSAN6, MACF2, Dystonin, BP230, BP240, EBS3
외부 ID	OMIM: 113810 호몰로진: 134369 GeneCard: DST
유전자 위치(인간)
쳇.	6번 염색체(인간)
끝	56,954,830 bp
RNA 표현 패턴
	표현된 상단
	말뭉치 담낭; ; 머리를 쓰다; ; 아킬레스건; ; 체내구체 팔리두스;
	추가 참조 표현식 데이터
	; ; ; ;
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	칼슘 이온 결합; 단백질 호모디메르화 활동; 마이크로튜브 플러스 엔드 바인딩; 금속 이온 결합; 통합 결합; 단백질 C-단자 결합; GO:0001948 단백질 결합; 구속력을 행사하다; 미세관 결합; 구조 분자 활성; 세포골격 단백질 결합;
셀룰러 컴포넌트	세포질; 막의 적분 성분; 세포 투영; 핵 봉투; 소포체 망막; 막으로 막다; 초점 접착; 미세관 사이토스켈레톤; H존; 플라즈마 막; 반신불수의; 미세관 플러스 엔드; 지하막; 액손; 세포 접합; 기저 혈장 막; 세포피질; Z 디스크; 세포 선행 가장자리; 소포체성 망막; 시토스켈레톤으로 행동하다.; 중간 필라멘트 사이토스켈레톤; 세포외 외성체; 중간 필라멘트; 시토스켈레톤; 미세관; 핵의; 시토솔; GO:0016023 세포질 소실; 액손 세포질;
생물학적 과정	반물질 조립체; 세포 운동성; 세포 접착; 상처에 대한 대응; 중간 필라멘트 사이토스켈레톤 조직; 통합 매개 신호 경로; 세포 극성 유지; 미세관 사이토스켈레톤 조직; 역방향 축전송; 사이토스켈레톤 조직; 세포질 미세관 조직; 상처 치유;
	출처:아미고 / 퀵고
직교체
	667
	n/a
	ENSG00000151914
	n/a
	Q03001
	n/a
NM_001144769; NM_001144770; NM_001144771; NM_001723; NM_015548;
	NM_020388; NM_183380; NM_001374722; NM_001374729; NM_001374730; NM_001374734; NM_001374736; NM_001386100
	n/a
NP_001138241; NP_001138242; NP_001714; NP_056363; NP_899236;
	NP_001361651; NP_001361658; NP_001361659; NP_001361663; NP_001361665
	n/a
	위키다타
인간 보기/편집

Dystonin(DST)은 황소 펨피고이드 항원 1(BPAG1)이라고도 하며, 이소 형태 1/2/3/4/5/8로 알려져 있으며, 인간에게 DST 유전자에 의해 암호화된 단백질이다.^[3]^[4]^[5]

이 유전자는 접착 접합 플라크 단백질의 플라킨 단백질 계열의 구성원을 인코딩한다. 이 유전자에 대해 구별되는 ISO 양식을 인코딩하는 여러 가지 대안으로 분할된 대본 변형이 발견되었지만, 일부 변종의 전체 길이 특성이 정의되지 않았다. 일부 이소성형은 신경조직과 근육조직으로 표현되고, 신경중간 필라멘트를 액틴시토스켈레톤에 고정하며, 일부 이소성형은 상피조직으로 표현되어 케라틴 함유 중간 필라멘트를 헤미데스모솜에 고정시키는 것으로 알려져 있다. 이 유전자에 결함이 있는 생쥐는 표현과 일치하여 피부 수포와 신경퇴행 발생을 보인다.^[5]

상호작용

다이스토닌은 콜라겐, 타입 XVII, 알파1, ^[6]^[7]DCTN1, ^[8]MAP1B^[9], 에르빈과 상호작용하는 것으로 나타났다.^[10]

신경질환의 기능 상실

몇몇 Dst 돌연변이 마우스 라인이 설명되었는데, 이 모든 것은 말초 감각 뉴런 퇴화의 공통점을 공유한다.^[11]^[12] 인간에게 있어서 다이스토닌 기능의 상실은 유전적인 감각 및 자율신경병증 타입^[13] VI와 차르코트-마리-토스 질환을 유발할 수 있다.^[14] 두 사람의 인간병에서 병리학은 특히 신경자극의 역할을 하는 디스토닌-a2/b2 단백질 이소형질의 상실에 기인한다.^[15]

참고 항목

황소 펨피고이드

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000151914 - 앙상블, 2017년 5월
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Stanley JR, Tanaka T, Mueller S, Klaus-Kovtun V, Roop D (December 1988). "Isolation of complementary DNA for bullous pemphigoid antigen by use of patients' autoantibodies". The Journal of Clinical Investigation. 82 (6): 1864–70. doi:10.1172/JCI113803. PMC 442765. PMID 2461961.
^ Sawamura D, Nomura K, Sugita Y, Mattei MG, Chu ML, Knowlton R, Uitto J (December 1990). "Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6". Genomics. 8 (4): 722–6. doi:10.1016/0888-7543(90)90261-R. PMID 2276744.
^ ^a ^b "Entrez Gene: DST dystonin".
^ Koster J, Geerts D, Favre B, Borradori L, Sonnenberg A (January 2003). "Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly". Journal of Cell Science. 116 (Pt 2): 387–99. doi:10.1242/jcs.00241. PMID 12482924.
^ Hopkinson SB, Jones JC (January 2000). "The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosome". Molecular Biology of the Cell. 11 (1): 277–86. doi:10.1091/mbc.11.1.277. PMC 14774. PMID 10637308.
^ Liu JJ, Ding J, Kowal AS, Nardine T, Allen E, Delcroix JD, et al. (October 2003). "BPAG1n4 is essential for retrograde axonal transport in sensory neurons". The Journal of Cell Biology. 163 (2): 223–9. doi:10.1083/jcb.200306075. PMC 2173519. PMID 14581450.
^ Bhanot K, Young KG, Kothary R (November 2011). "MAP1B and clathrin are novel interacting partners of the giant cyto-linker dystonin". Journal of Proteome Research. 10 (11): 5118–27. doi:10.1021/pr200564g. PMID 21936565.
^ Favre B, Fontao L, Koster J, Shafaatian R, Jaunin F, Saurat JH, et al. (August 2001). "The hemidesmosomal protein bullous pemphigoid antigen 1 and the integrin beta 4 subunit bind to ERBIN. Molecular cloning of multiple alternative splice variants of ERBIN and analysis of their tissue expression". The Journal of Biological Chemistry. 276 (35): 32427–36. doi:10.1074/jbc.M011005200. PMID 11375975.
^ Pool M, Boudreau Larivière C, Bernier G, Young KG, Kothary R (December 2005). "Genetic alterations at the Bpag1 locus in dt mice and their impact on transcript expression". Mammalian Genome. 16 (12): 909–17. doi:10.1007/s00335-005-0073-4. PMID 16341670. S2CID 20415295.
^ Young KG, Kothary R (December 2007). "Dystonin/Bpag1--a link to what?". Cell Motility and the Cytoskeleton. 64 (12): 897–905. doi:10.1002/cm.20235. PMID 17849487.
^ Lynch-Godrei A, Kothary R (February 2020). "HSAN-VI: A spectrum disorder based on dystonin isoform expression". Neurology. Genetics. 6 (1): e389. doi:10.1212/NXG.0000000000000389. PMC 6975176. PMID 32042917.
^ Motley WW, Züchner S, Scherer SS (October 2020). "Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy". Neurology. Genetics. 6 (5): e496. doi:10.1212/NXG.0000000000000496. PMC 7413632. PMID 32802955.
^ Ferrier A, De Repentigny Y, Lynch-Godrei A, Gibeault S, Eid W, Kuo D, Zha X, Kothary R (2015). "Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice". Autophagy. 11 (7): 1025–36. doi:10.1080/15548627.2015.1052207. PMC 4590603. PMID 26043942.

추가 읽기

Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (June 2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
Tanaka T, Parry DA, Klaus-Kovtun V, Steinert PM, Stanley JR (July 1991). "Comparison of molecularly cloned bullous pemphigoid antigen to desmoplakin I confirms that they define a new family of cell adhesion junction plaque proteins". The Journal of Biological Chemistry. 266 (19): 12555–9. doi:10.1016/S0021-9258(18)98934-9. PMID 1712022.
Sawamura D, Li K, Chu ML, Uitto J (September 1991). "Human bullous pemphigoid antigen (BPAG1). Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains". The Journal of Biological Chemistry. 266 (27): 17784–90. doi:10.1016/S0021-9258(18)55195-4. PMID 1717441.
Sawamura D, Li KH, Nomura K, Sugita Y, Christiano AM, Uitto J (June 1991). "Bullous pemphigoid antigen: cDNA cloning, cellular expression, and evidence for polymorphism of the human gene". The Journal of Investigative Dermatology. 96 (6): 908–15. doi:10.1111/1523-1747.ep12475433. PMID 2045679.
Owaribe K, Kartenbeck J, Stumpp S, Magin TM, Krieg T, Diaz LA, Franke WW (December 1990). "The hemidesmosomal plaque. I. Characterization of a major constituent protein as a differentiation marker for certain forms of epithelia". Differentiation; Research in Biological Diversity. 45 (3): 207–20. doi:10.1111/j.1432-0436.1990.tb00475.x. PMID 2090522.
Westgate GE, Weaver AC, Couchman JR (March 1985). "Bullous pemphigoid antigen localization suggests an intracellular association with hemidesmosomes". The Journal of Investigative Dermatology. 84 (3): 218–24. doi:10.1111/1523-1747.ep12265229. PMID 2579167.
Mutasim DF, Morrison LH, Takahashi Y, Labib RS, Skouge J, Diaz LA, Anhalt GJ (February 1989). "Definition of bullous pemphigoid antibody binding to intracellular and extracellular antigen associated with hemidesmosomes". The Journal of Investigative Dermatology. 92 (2): 225–30. doi:10.1111/1523-1747.ep12276753. PMID 2645368.
Mutasim DF, Takahashi Y, Labib RS, Anhalt GJ, Patel HP, Diaz LA (January 1985). "A pool of bullous pemphigoid antigen(s) is intracellular and associated with the basal cell cytoskeleton-hemidesmosome complex". The Journal of Investigative Dermatology. 84 (1): 47–53. doi:10.1111/1523-1747.ep12274684. PMID 3880796.
Nomura K, Sugawara T, Sato T, Sawamura D, Hashimoto I, Sugita Y, Uitto J (1995). "Expression of laminin, type IV procollagen and 230 kDa bullous pemphigoid antigen genes by keratinocytes and fibroblasts in culture: application of the polymerase chain reaction for detection of small amounts of messenger RNA". Archives of Dermatological Research. 286 (7): 408–13. doi:10.1007/BF00371801. PMID 7818282. S2CID 33902783.
Brown A, Lemieux N, Rossant J, Kothary R (July 1994). "Human homolog of a mouse sequence from the dystonia musculorum locus is on chromosome 6p12". Mammalian Genome. 5 (7): 434–7. doi:10.1007/BF00357004. PMID 7919656. S2CID 324880.
Hopkinson SB, Jones JC (June 1994). "Identification of a second protein product of the gene encoding a human epidermal autoantigen". The Biochemical Journal. 300 ( Pt 3) (3): 851–7. doi:10.1042/bj3000851. PMC 1138243. PMID 8010969.
Elgart GW, Stanley JR (August 1993). "Cloning of the 5' mRNA for the 230-kD bullous pemphigoid antigen by rapid amplification of cDNA ends". The Journal of Investigative Dermatology. 101 (2): 244–6. doi:10.1111/1523-1747.ep12365083. PMID 8345227.
Tamai K, Sawamura D, Do HC, Tamai Y, Li K, Uitto J (August 1993). "The human 230-kD bullous pemphigoid antigen gene (BPAG1). Exon-intron organization and identification of regulatory tissue specific elements in the promoter region". The Journal of Clinical Investigation. 92 (2): 814–22. doi:10.1172/JCI116655. PMC 294919. PMID 8349819.
Brown A, Dalpé G, Mathieu M, Kothary R (October 1995). "Cloning and characterization of the neural isoforms of human dystonin". Genomics. 29 (3): 777–80. doi:10.1006/geno.1995.9936. PMID 8575775.
Tang HY, Chaffotte AF, Thacher SM (April 1996). "Structural analysis of the predicted coiled-coil rod domain of the cytoplasmic bullous pemphigoid antigen (BPAG1). Empirical localization of the N-terminal globular domain-rod boundary". The Journal of Biological Chemistry. 271 (16): 9716–22. doi:10.1074/jbc.271.16.9716. PMID 8621649.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG00000151914 - 앙상블, 2017년 5월

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid2461961-3] Stanley JR, Tanaka T, Mueller S, Klaus-Kovtun V, Roop D (December 1988). "Isolation of complementary DNA for bullous pemphigoid antigen by use of patients' autoantibodies". The Journal of Clinical Investigation. 82 (6): 1864–70. doi:10.1172/JCI113803. PMC 442765. PMID 2461961.

[pmid2276744-4] Sawamura D, Nomura K, Sugita Y, Mattei MG, Chu ML, Knowlton R, Uitto J (December 1990). "Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6". Genomics. 8 (4): 722–6. doi:10.1016/0888-7543(90)90261-R. PMID 2276744.

[entrez-5] "Entrez Gene: DST dystonin".

[pmid12482924-6] Koster J, Geerts D, Favre B, Borradori L, Sonnenberg A (January 2003). "Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly". Journal of Cell Science. 116 (Pt 2): 387–99. doi:10.1242/jcs.00241. PMID 12482924.

[pmid10637308-7] Hopkinson SB, Jones JC (January 2000). "The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosome". Molecular Biology of the Cell. 11 (1): 277–86. doi:10.1091/mbc.11.1.277. PMC 14774. PMID 10637308.

[pmid14581450-8] Liu JJ, Ding J, Kowal AS, Nardine T, Allen E, Delcroix JD, et al. (October 2003). "BPAG1n4 is essential for retrograde axonal transport in sensory neurons". The Journal of Cell Biology. 163 (2): 223–9. doi:10.1083/jcb.200306075. PMC 2173519. PMID 14581450.

[pmid21936565-9] Bhanot K, Young KG, Kothary R (November 2011). "MAP1B and clathrin are novel interacting partners of the giant cyto-linker dystonin". Journal of Proteome Research. 10 (11): 5118–27. doi:10.1021/pr200564g. PMID 21936565.

[pmid11375975-10] Favre B, Fontao L, Koster J, Shafaatian R, Jaunin F, Saurat JH, et al. (August 2001). "The hemidesmosomal protein bullous pemphigoid antigen 1 and the integrin beta 4 subunit bind to ERBIN. Molecular cloning of multiple alternative splice variants of ERBIN and analysis of their tissue expression". The Journal of Biological Chemistry. 276 (35): 32427–36. doi:10.1074/jbc.M011005200. PMID 11375975.

[pmid16341670-11] Pool M, Boudreau Larivière C, Bernier G, Young KG, Kothary R (December 2005). "Genetic alterations at the Bpag1 locus in dt mice and their impact on transcript expression". Mammalian Genome. 16 (12): 909–17. doi:10.1007/s00335-005-0073-4. PMID 16341670. S2CID 20415295.

[pmid17849487-12] Young KG, Kothary R (December 2007). "Dystonin/Bpag1--a link to what?". Cell Motility and the Cytoskeleton. 64 (12): 897–905. doi:10.1002/cm.20235. PMID 17849487.

[pmid32042917-13] Lynch-Godrei A, Kothary R (February 2020). "HSAN-VI: A spectrum disorder based on dystonin isoform expression". Neurology. Genetics. 6 (1): e389. doi:10.1212/NXG.0000000000000389. PMC 6975176. PMID 32042917.

[pmid32802955-14] Motley WW, Züchner S, Scherer SS (October 2020). "Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy". Neurology. Genetics. 6 (5): e496. doi:10.1212/NXG.0000000000000496. PMC 7413632. PMID 32802955.

[pmid26043942-15] Ferrier A, De Repentigny Y, Lynch-Godrei A, Gibeault S, Eid W, Kuo D, Zha X, Kothary R (2015). "Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice". Autophagy. 11 (7): 1025–36. doi:10.1080/15548627.2015.1052207. PMC 4590603. PMID 26043942.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

[11]

[12]

[13]

[14]

[15]

Search

디스토닌

네임스페이스

더

목차

상호작용

신경질환의 기능 상실

참고 항목

참조

추가 읽기