다이스트로브레빈 알파

DTNA
사용 가능한 구조
PDB	Ortholog 검색: PDBe RCSB
PDB ID 코드 목록
	2E5R
식별자
에일리어스	DTNA, D18S892E, DRP3, DTN, DTN-A, LVNC1, Dystrobrevin 알파
외부 ID	OMIM: 601239 MGI: 106039 HomoloGene: 20362 GenCard: DTNA
유전자 위치(인간)
크르.	18번 염색체(인간)
끝.	34,891,8944 bp
유전자 위치(마우스)
크르.	18번 염색체(쥐)
끝.	23,659,715 bp
RNA발현패턴
	상단 표시 위치:
	내장글로부페리더스; ; 외이성 망막; ; 핵액컴벤스; ; 편도체; ; 상전정핵; ; 미산핵; ; 뇌량; ; 창호; ; 고유 해마; ; 미주신경의 하부 신경절;
	추가 참조 표현식 데이터
	; ; ; ;
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	아연 이온 결합; GO:0001948 단백질 결합; 금속 이온 결합; PDZ 도메인바인딩;
셀룰러 컴포넌트	세포질; 혈장막 세포질 측 외인성 성분; 세포 접합; 축삭; 사콜레마; 혈장막; 세포 투영; 시냅스; 막; 단백질 함유 복합체;
생물학적 과정	신경근 시냅스 전달; 횡문근 수축; 신호 변환; 화학적 시냅스 전달;
	출처:아미고 / QuickGO
맞춤법
	1837
	13527
	ENSG00000134769
	ENSMUSG000024302
	Q9Y4J8
	Q9D2N4
NM_001128175; NM_001198938; NM_001198939; NM_001198940; NM_001198941;
	NM_001198942; NM_001198943; NM_001198944; NM_001198945; NM_001390; NM_001391; NM_00139; NM_032975; NM_032978; NM_032979; NM_032980; NM_032981
NM_001285807; NM_001285808; NM_001285810; NM_001285811; NM_001285813;
	NM_001285817; NM_010087; NM_207650; NM_001361215; NM_001361216; NM_001361217
NP_001121647; NP_001185867; NP_001185868; NP_001185869; NP_001185870;
	NP_001185871; NP_001185872; NP_00118583; NP_001185874; NP_001381; NP_001382; NP_001383; NP_116757; NP_116760; NP_116761; NP_116762; NP_116763
NP_001272736; NP_001272737; NP_001272739; NP_001272740; NP_001272742;
	NP_001272746; NP_034217; NP_997533; NP_001348144; NP_001348145; NP_001348146
	위키데이터
인간 보기/편집	마우스 표시/편집

Dystrobrevin alpha는 DTNA ^[5]^[6]^[7]유전자에 의해 인간에게 암호화되는 단백질이다.

기능.

이 유전자에 의해 암호화된 단백질은 디스트로브레빈 서브패밀리와 디스트로핀 패밀리에 속합니다.이 단백질은 디스트로핀 관련 단백질 복합체(DPC)의 성분이다.DPC는 디스트로핀과 디스트로글리칸, 석회색칸, 합성트로핀, 알파 및 베타-디스트로브레빈을 포함한 여러 통합 및 말초막 단백질로 구성됩니다.DPC는 근위축증의 다양한 형태와 관련되어 있으며, 그 붕괴는 근위축증과 관련이 있다.이 단백질은 니코틴성 아세틸콜린 수용체의 군집뿐만 아니라 시냅스의 형성과 안정성에 관여할 수 있다.다른 아이소폼을 코드하는 복수의 대체 스플라이스된 전사 변종이 식별되었다.^[7]

임상적 의의

DTNA의 돌연변이는 메니에르병과 ^[8]^[9]관련이 있다.

상호 작용

디스트로브레빈은 디스트로핀과 ^[10]상호작용하는 것으로 나타났다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000134769 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000024302 - 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.
^ Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA, Kunkel LM (Oct 1994). "(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein". Hum Mol Genet. 3 (5): 841. doi:10.1093/hmg/3.5.841-a. PMID 8081380.
^ Sjö A, Magnusson KE, Peterson KH (Apr 2005). "Association of alpha-dystrobrevin with reorganizing tight junctions". J Membr Biol. 203 (1): 21–30. doi:10.1007/s00232-004-0728-1. PMID 15834686. S2CID 371967.
^ ^a ^b "Entrez Gene: DTNA dystrobrevin, alpha".
^ Lopez-Escamez JA, Carey J, Chung WH, Goebel JA, Magnusson M, Mandalà M, Newman-Toker DE, Strupp M, Suzuki M, Trabalzini F, Bisdorff A (2015). "Diagnostic criteria for Menière's disease". J Vestib Res. 25 (1): 1–7. doi:10.3233/VES-150549. PMID 25882471.
^ Requena T, Cabrera S, Martín-Sierra C, Price SD, Lysakowski A, Lopez-Escamez JA (2014). "Identification of two novel mutations in FAM136A and DTNA genes in autosomal dominant familial Meniere's disease". Human Molecular Genetics. 24 (4): 1119–26. doi:10.1093/hmg/ddu524. PMC 4834881. PMID 25305078.
^ Sadoulet-Puccio HM, Rajala M, Kunkel LM (Nov 1997). "Dystrobrevin and dystrophin: An interaction through coiled-coil motifs". Proc. Natl. Acad. Sci. U.S.A. 94 (23): 12413–8. doi:10.1073/pnas.94.23.12413. PMC 24974. PMID 9356463.

추가 정보

Straub V, Campbell KP (1997). "Muscular dystrophies and the dystrophin-glycoprotein complex". Current Opinion in Neurology. 10 (2): 168–75. doi:10.1097/00019052-199704000-00016. PMID 9146999.
Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M (1998). "From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy". Muscle Nerve. 21 (4): 421–38. doi:10.1002/(SICI)1097-4598(199804)21:4<421::AID-MUS1>3.0.CO;2-B. PMID 9533777.
Blake DJ (2002). "Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy?". Neuromuscul. Disord. 12 Suppl 1: S110–7. doi:10.1016/S0960-8966(02)00091-3. PMID 12206805. S2CID 9188156.
Ahn AH, Kunkel LM (1995). "Syntrophin binds to an alternatively spliced exon of dystrophin". J. Cell Biol. 128 (3): 363–71. doi:10.1083/jcb.128.3.363. PMC 2120343. PMID 7844150.
Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM (1996). "The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives". J. Biol. Chem. 271 (5): 2724–30. doi:10.1074/jbc.271.5.2724. PMID 8576247.
Blake DJ, Nawrotzki R, Peters MF, Froehner SC, Davies KE (1996). "Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein". J. Biol. Chem. 271 (13): 7802–10. doi:10.1074/jbc.271.13.7802. PMID 8631824.
Sadoulet-Puccio HM, Khurana TS, Cohen JB, Kunkel LM (1996). "Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane". Hum. Mol. Genet. 5 (4): 489–96. doi:10.1093/hmg/5.4.489. PMID 8845841.
Ambrose HJ, Blake DJ, Nawrotzki RA, Davies KE (1997). "Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene". Genomics. 39 (3): 359–69. doi:10.1006/geno.1996.4515. PMID 9119373.
Metzinger L, Blake DJ, Squier MV, Anderson LV, Deconinck AE, Nawrotzki R, Hilton-Jones D, Davies KE (1997). "Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy". Hum. Mol. Genet. 6 (7): 1185–91. doi:10.1093/hmg/6.7.1185. PMID 9215691.
Sadoulet-Puccio HM, Rajala M, Kunkel LM (1997). "Dystrobrevin and dystrophin: An interaction through coiled-coil motifs". Proc. Natl. Acad. Sci. U.S.A. 94 (23): 12413–8. doi:10.1073/pnas.94.23.12413. PMC 24974. PMID 9356463.
Blake DJ, Nawrotzki R, Loh NY, Górecki DC, Davies KE (1998). "β-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.
Nawrotzki R, Loh NY, Ruegg MA, Davies KE, Blake DJ (1999). "Characterisation of alpha-dystrobrevin in muscle" (PDF). J. Cell Sci. 111 (17): 2595–605. doi:10.1242/jcs.111.17.2595. PMID 9701558.
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.
Sadoulet-Puccio HM, Feener CA, Schaid DJ, Thibodeau SN, Michels VV, Kunkel LM (2000). "The genomic organization of human dystrobrevin". Neurogenetics. 1 (1): 37–42. doi:10.1007/s100480050006. PMID 10735273. S2CID 22588879.
Piluso G, Mirabella M, Ricci E, Belsito A, Abbondanza C, Servidei S, Puca AA, Tonali P, Puca GA, Nigro V (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.
Yoshida M, Hama H, Ishikawa-Sakurai M, Imamura M, Mizuno Y, Araishi K, Wakabayashi-Takai E, Noguchi S, Sasaoka T, Ozawa E (2000). "Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy". Hum. Mol. Genet. 9 (7): 1033–40. doi:10.1093/hmg/9.7.1033. PMID 10767327.
Tommasi di Vignano A, Di Zenzo G, Sudol M, Cesareni G, Dente L (2000). "Contribution of the different modules in the utrophin carboxy-terminal region to the formation and regulation of the DAP complex". FEBS Lett. 471 (2–3): 229–34. doi:10.1016/S0014-5793(00)01400-9. PMID 10767429. S2CID 21529759.

인간 염색체 18번 유전자에 대한 이 기사는 짧은 글이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000134769 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000024302 - 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.

[pmid8081380-5] Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA, Kunkel LM (Oct 1994). "(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein". Hum Mol Genet. 3 (5): 841. doi:10.1093/hmg/3.5.841-a. PMID 8081380.

[pmid15834686-6] Sjö A, Magnusson KE, Peterson KH (Apr 2005). "Association of alpha-dystrobrevin with reorganizing tight junctions". J Membr Biol. 203 (1): 21–30. doi:10.1007/s00232-004-0728-1. PMID 15834686. S2CID 371967.

[entrez-7] "Entrez Gene: DTNA dystrobrevin, alpha".

[2015DiagConsensus-8] Lopez-Escamez JA, Carey J, Chung WH, Goebel JA, Magnusson M, Mandalà M, Newman-Toker DE, Strupp M, Suzuki M, Trabalzini F, Bisdorff A (2015). "Diagnostic criteria for Menière's disease". J Vestib Res. 25 (1): 1–7. doi:10.3233/VES-150549. PMID 25882471.

[9] Requena T, Cabrera S, Martín-Sierra C, Price SD, Lysakowski A, Lopez-Escamez JA (2014). "Identification of two novel mutations in FAM136A and DTNA genes in autosomal dominant familial Meniere's disease". Human Molecular Genetics. 24 (4): 1119–26. doi:10.1093/hmg/ddu524. PMC 4834881. PMID 25305078.

[pmid9356463-10] Sadoulet-Puccio HM, Rajala M, Kunkel LM (Nov 1997). "Dystrobrevin and dystrophin: An interaction through coiled-coil motifs". Proc. Natl. Acad. Sci. U.S.A. 94 (23): 12413–8. doi:10.1073/pnas.94.23.12413. PMC 24974. PMID 9356463.

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다이스트로브레빈 알파

네임스페이스

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목차

기능.

임상적 의의

상호 작용

레퍼런스

추가 정보