라미네인, 알파3
Laminin, alpha 3| 라마3 | |||||||||||||||||||||||||
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| 식별자 | |||||||||||||||||||||||||
| 별칭 | LAMA3, BM600, E170, LAMNA, LOCS, 라마3a, 라미네인, 알파3, 라미네인, 알파3, 라미네인 소단위 알파3, JEB2A, JEB2C. | ||||||||||||||||||||||||
| 외부 ID | OMIM: 600805 MGI: 99909 HomoloGene: 18279 GeneCard: LAMA3 | ||||||||||||||||||||||||
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| 직교체 | |||||||||||||||||||||||||
| 종 | 인간 | 마우스 | |||||||||||||||||||||||
| 엔트레스 | |||||||||||||||||||||||||
| 앙상블 | |||||||||||||||||||||||||
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| RefSeq(단백질) | |||||||||||||||||||||||||
| 위치(UCSC) | Chr 18: 23.69 – 23.96Mb | Chr 18: 12.47 – 12.72Mb | |||||||||||||||||||||||
| PubMed 검색 | [3] | [4] | |||||||||||||||||||||||
| 위키다타 | |||||||||||||||||||||||||
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라미닌 서브유닛 알파-3는 인간에서 라마3 유전자에 의해 암호화된 단백질이다.[5][6]
함수
라미네인은 다른 세포외 매트릭스 성분과 상호작용을 통해 배아발달 시 세포의 조직으로의 부착, 이동 및 구성을 중재하는 것으로 생각되는 지하막 성분이다.이 유전자가 인코딩한 단백질은 라미네인 5의 알파-3 체인으로, 3개의 서브유닛(알파, 베타, 감마)으로 구성된 복합 당단백질이다.대안으로 서로 다른 ISO 양식을 인코딩하는 분할된 대본 변형이 식별되었다.
라미네인 5는 각질세포의 세포 접착, 신호 전달 및 분화에 관여하는 것으로 생각된다.[6]
임상적 유의성
이 유전자의 돌연변이는 Herlitz type junctional epidermolysis bullosa의 원인으로 확인되었다.[6]
그것은 Laryngychocutal 증후군과 관련이 있을 수 있다.[7]
상호작용
라미네인, 알파 3은 SDC2와 상호작용하는 것으로 밝혀졌다.[8]
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG000053747 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000024421 - 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.
- ^ Ryan MC, Tizard R, VanDevanter DR, Carter WG (Oct 1994). "Cloning of the LamA3 gene encoding the alpha 3 chain of the adhesive ligand epiligrin. Expression in wound repair". J Biol Chem. 269 (36): 22779–87. PMID 8077230.
- ^ a b c "Entrez Gene: LAMA3 laminin, alpha 3".
- ^ McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, Phillips R, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ, McGrath JA, Phillips RJ (September 2003). "An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome". Hum. Mol. Genet. 12 (18): 2395–409. doi:10.1093/hmg/ddg234. PMID 12915477.
- ^ Utani A, Nomizu M, Matsuura H, Kato K, Kobayashi T, Takeda U, Aota S, Nielsen PK, Shinkai H (Aug 2001). "A unique sequence of the laminin alpha 3 G domain binds to heparin and promotes cell adhesion through syndecan-2 and -4". J. Biol. Chem. 276 (31): 28779–88. doi:10.1074/jbc.M101420200. PMID 11373281.
추가 읽기
- Timpl R (1997). "Macromolecular organization of basement membranes". Curr. Opin. Cell Biol. 8 (5): 618–24. doi:10.1016/S0955-0674(96)80102-5. PMID 8939648.
- Kivirikko S, McGrath JA, Baudoin C, Aberdam D, Ciatti S, Dunnill MG, McMillan JR, Eady RA, Ortonne JP, Meneguzzi G (1995). "A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa". Hum. Mol. Genet. 4 (5): 959–62. doi:10.1093/hmg/4.5.959. PMID 7633458.
- Rousselle P, Golbik R, van der Rest M, Aumailley M (1995). "Structural requirement for cell adhesion to kalinin (laminin-5)". J. Biol. Chem. 270 (23): 13766–70. doi:10.1074/jbc.270.23.13766. PMID 7775432.
- Burgeson RE, Chiquet M, Deutzmann R, Ekblom P, Engel J, Kleinman H, Martin GR, Meneguzzi G, Paulsson M, Sanes J (1994). "A new nomenclature for the laminins". Matrix Biol. 14 (3): 209–11. doi:10.1016/0945-053X(94)90184-8. PMID 7921537.
- Vidal F, Baudoin C, Miquel C, Galliano MF, Christiano AM, Uitto J, Ortonne JP, Meneguzzi G (1996). "Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa". Genomics. 30 (2): 273–80. doi:10.1006/geno.1995.9877. PMID 8586427.
- McGrath JA, Kivirikko S, Ciatti S, Moss C, Christiano AM, Uitto J (1996). "A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect". J. Invest. Dermatol. 106 (4): 781–4. doi:10.1111/1523-1747.ep12346349. PMID 8618022.
- Mizushima H, Miyagi Y, Kikkawa Y, Yamanaka N, Yasumitsu H, Misugi K, Miyazaki K (1997). "Differential expression of laminin-5/ladsin subunits in human tissues and cancer cell lines and their induction by tumor promoter and growth factors". J. Biochem. 120 (6): 1196–202. doi:10.1093/oxfordjournals.jbchem.a021541. PMID 9010770.
- Miner JH, Patton BL, Lentz SI, Gilbert DJ, Snider WD, Jenkins NA, Copeland NG, Sanes JR (1997). "The Laminin α Chains: Expression, Developmental Transitions, and Chromosomal Locations of α1-5, Identification of Heterotrimeric Laminins 8–11, and Cloning of a Novel α3 Isoform". J. Cell Biol. 137 (3): 685–701. doi:10.1083/jcb.137.3.685. PMC 2139892. PMID 9151674.
- Doliana R, Bellina I, Bucciotti F, Mongiat M, Perris R, Colombatti A (1998). "The human alpha3b is a 'full-sized' laminin chain variant with a more widespread tissue expression than the truncated alpha3a". FEBS Lett. 417 (1): 65–70. doi:10.1016/S0014-5793(97)01251-9. PMID 9395076. S2CID 85823519.
- Mrowiec T, Melchar C, Górski A (1998). "HIV-protein-mediated alterations in T cell interactions with the extracellular matrix proteins and endothelium". Arch. Immunol. Ther. Exp. (Warsz.). 45 (2–3): 255–9. PMID 9597096.
- Pulkkinen L, Cserhalmi-Friedman PB, Tang M, Ryan MC, Uitto J, Christiano AM (1998). "Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa". Lab. Invest. 78 (9): 1067–76. PMID 9759651.
- Gonzales M, Haan K, Baker SE, Fitchmun M, Todorov I, Weitzman S, Jones JC (1999). "A Cell Signal Pathway Involving Laminin-5, α3β1 Integrin, and Mitogen-activated Protein Kinase Can Regulate Epithelial Cell Proliferation". Mol. Biol. Cell. 10 (2): 259–70. doi:10.1091/mbc.10.2.259. PMC 25167. PMID 9950675.
- Hirosaki T, Mizushima H, Tsubota Y, Moriyama K, Miyazaki K (2000). "Structural requirement of carboxyl-terminal globular domains of laminin alpha 3 chain for promotion of rapid cell adhesion and migration by laminin-5". J. Biol. Chem. 275 (29): 22495–502. doi:10.1074/jbc.M001326200. PMID 10801807.
- Amano S, Scott IC, Takahara K, Koch M, Champliaud MF, Gerecke DR, Keene DR, Hudson DL, Nishiyama T, Lee S, Greenspan DS, Burgeson RE (2000). "Bone morphogenetic protein 1 is an extracellular processing enzyme of the laminin 5 gamma 2 chain". J. Biol. Chem. 275 (30): 22728–35. doi:10.1074/jbc.M002345200. PMID 10806203.
- Goldfinger LE, Jiang L, Hopkinson SB, Stack MS, Jones JC (2001). "Spatial regulation and activity modulation of plasmin by high affinity binding to the G domain of the alpha 3 subunit of laminin-5". J. Biol. Chem. 275 (45): 34887–93. doi:10.1074/jbc.M006652200. PMID 10956663.
- Fujiwara H, Kikkawa Y, Sanzen N, Sekiguchi K (2001). "Purification and characterization of human laminin-8. Laminin-8 stimulates cell adhesion and migration through alpha3beta1 and alpha6beta1 integrins". J. Biol. Chem. 276 (20): 17550–8. doi:10.1074/jbc.M010155200. PMID 11278628.
- McArthur CP, Wang Y, Heruth D, Gustafson S (2001). "Amplification of extracellular matrix and oncogenes in tat-transfected human salivary gland cell lines with expression of laminin, fibronectin, collagens I, III, IV, c-myc and p53". Arch. Oral Biol. 46 (6): 545–55. doi:10.1016/S0003-9969(01)00014-0. PMID 11311202.
- Utani A, Nomizu M, Matsuura H, Kato K, Kobayashi T, Takeda U, Aota S, Nielsen PK, Shinkai H (2001). "A unique sequence of the laminin alpha 3 G domain binds to heparin and promotes cell adhesion through syndecan-2 and -4". J. Biol. Chem. 276 (31): 28779–88. doi:10.1074/jbc.M101420200. PMID 11373281.
