인테그린 베타 4
Integrin beta 4ITGB4 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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식별자 | |||||||||||||||||||||||||||||||||||||||||||||||||||
에일리어스 | ITGB4, CD104, GP150, 인테그린 서브유닛 베타4, JEB5A, JEB5B | ||||||||||||||||||||||||||||||||||||||||||||||||||
외부 ID | OMIM: 147557 MGI: 96613 HomoloGene: 179 GeneCard: ITGB4 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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위키데이터 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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CD104(Cluster of Differency 104)로도 알려진 인테그린 베타 4(ITGB4)는 인간의 [5]유전자이다.
기능.
인테그린은 알파 및 베타 서브유닛으로 구성된 헤테로디머로, 이들은 비공유적으로 연관된 경막 당단백질 수용체이다.알파와 베타 폴리펩타이드의 서로 다른 조합은 리간드 결합 특이성이 다른 복합체를 형성한다.인테그린은 세포 매트릭스 또는 세포 접착을 매개하고 유전자 발현과 세포 성장을 조절하는 신호를 전달한다.이 유전자는 라미닌 수용체인 인테그린 베타4 서브유닛을 암호화한다.이 서브유닛은 알파6 서브유닛과 연관되는 경향이 있으며 침습성 암종의 생물학에서 중추적인 역할을 할 가능성이 있습니다.이 유전자의 돌연변이는 유문폐쇄증이 있는 표피분해성 불소증과 관련이 있다.이 [5]유전자에 대해 별개의 등형식을 코드하는 복수의 대체 스플라이스 전사 변이가 발견되었다.
상호 작용
ITGB4는 콜라겐, 타입 XVII, 알파1,[6][7] EIF6[8] 및 [9]Erbin과 상호작용하는 것으로 나타났습니다.
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레퍼런스
- ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000132470 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000020758 - 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.
- ^ a b "Entrez Gene: ITGB4 integrin, beta 4".
- ^ Aho S, Uitto J (Feb 1998). "Direct interaction between the intracellular domains of bullous pemphigoid antigen 2 (BP180) and beta 4 integrin, hemidesmosomal components of basal keratinocytes". Biochemical and Biophysical Research Communications. 243 (3): 694–9. doi:10.1006/bbrc.1998.8162. PMID 9500991.
- ^ Schaapveld RQ, Borradori L, Geerts D, van Leusden MR, Kuikman I, Nievers MG, Niessen CM, Steenbergen RD, Snijders PJ, Sonnenberg A (Jul 1998). "Hemidesmosome formation is initiated by the beta4 integrin subunit, requires complex formation of beta4 and HD1/plectin, and involves a direct interaction between beta4 and the bullous pemphigoid antigen 180". The Journal of Cell Biology. 142 (1): 271–84. doi:10.1083/jcb.142.1.271. PMC 2133016. PMID 9660880.
- ^ Biffo S, Sanvito F, Costa S, Preve L, Pignatelli R, Spinardi L, Marchisio PC (Nov 1997). "Isolation of a novel beta4 integrin-binding protein (p27(BBP)) highly expressed in epithelial cells". The Journal of Biological Chemistry. 272 (48): 30314–21. doi:10.1074/jbc.272.48.30314. PMID 9374518.
- ^ Favre B, Fontao L, Koster J, Shafaatian R, Jaunin F, Saurat JH, Sonnenberg A, Borradori L (Aug 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.
추가 정보
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- Suzuki S, Naitoh Y (Mar 1990). "Amino acid sequence of a novel integrin beta 4 subunit and primary expression of the mRNA in epithelial cells". The EMBO Journal. 9 (3): 757–63. doi:10.1002/j.1460-2075.1990.tb08170.x. PMC 551732. PMID 2311577.
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- Mainiero F, Pepe A, Wary KK, Spinardi L, Mohammadi M, Schlessinger J, Giancotti FG (Sep 1995). "Signal transduction by the alpha 6 beta 4 integrin: distinct beta 4 subunit sites mediate recruitment of Shc/Grb2 and association with the cytoskeleton of hemidesmosomes". The EMBO Journal. 14 (18): 4470–81. doi:10.1002/j.1460-2075.1995.tb00126.x. PMC 394539. PMID 7556090.
- Clarke AS, Lotz MM, Mercurio AM (Apr 1994). "A novel structural variant of the human beta 4 integrin cDNA". Cell Adhesion and Communication. 2 (1): 1–6. doi:10.3109/15419069409014197. PMID 7982032.
- Weeks BS, Desai K, Loewenstein PM, Klotman ME, Klotman PE, Green M, Kleinman HK (Mar 1993). "Identification of a novel cell attachment domain in the HIV-1 Tat protein and its 90-kDa cell surface binding protein". The Journal of Biological Chemistry. 268 (7): 5279–84. doi:10.1016/S0021-9258(18)53530-4. PMID 8444901.
- Iacovacci S, Gagnoux-Palacios L, Zambruno G, Meneguzzi G, D'Alessio M (Jun 1997). "Genomic organization of the human integrin beta4 gene". Mammalian Genome. 8 (6): 448–50. doi:10.1007/s003359900467. PMID 9166594. S2CID 41037975.
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- Biffo S, Sanvito F, Costa S, Preve L, Pignatelli R, Spinardi L, Marchisio PC (Nov 1997). "Isolation of a novel beta4 integrin-binding protein (p27(BBP)) highly expressed in epithelial cells". The Journal of Biological Chemistry. 272 (48): 30314–21. doi:10.1074/jbc.272.48.30314. PMID 9374518.
- Pulkkinen L, Kim DU, Uitto J (Jan 1998). "Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4)". The American Journal of Pathology. 152 (1): 157–66. PMC 1858138. PMID 9422533.
- Hughes AE, Bradley DT, Campbell M, Lechner J, Dash DP, Simpson DA, Willoughby CE (Nov 2011). "Mutation altering the miR-184 seed region causes familial keratoconus with cataract". American Journal of Human Genetics. 89 (5): 628–33. doi:10.1016/j.ajhg.2011.09.014. PMC 3213395. PMID 21996275.
외부 링크
- 유문폐쇄증을 수반하는 표피분해성 불로사의 GeneReviews/NCBI/NIH/UW 엔트리
- ITGB4+단백질+미국국립의학도서관 의학 과목 제목(MeSH)
- Wayback Machine에서 2014-12-11로 아카이브된 셀 이행 게이트웨이에 링크가 있는 ITGB4 정보