ECM1
Protein 1vanćelijskog matriksajestproteinkoji je kodljudikodirangenomECM1sahromosoma 1.[5][6][7]
Aminokiselinska sekvenca
[uredi|uredi izvor]Dužinapolipeptidnoglanca je 540aminokiselina,amolekulska težina60.674Da.[8]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MGTTARAALV | LTYLAVASAA | SEGGFTATGQ | RQLRPEHFQE | VGYAAPPSPP | ||||
| LSRSLPMDHP | DSSQHGPPFE | GQSQVQPPPS | QEATPLQQEK | LLPAQLPAEK | ||||
| EVGPPLPQEA | VPLQKELPSL | QHPNEQKEGT | PAPFGDQSHP | EPESWNAAQH | ||||
| CQQDRSQGGW | GHRLDGFPPG | RPSPDNLNQI | CLPNRQHVVY | GPWNLPQSSY | ||||
| SHLTRQGETL | NFLEIGYSRC | CHCRSHTNRL | ECAKLVWEEA | MSRFCEAEFS | ||||
| VKTRPHWCCT | RQGEARFSCF | QEEAPQPHYQ | LRACPSHQPD | ISSGLELPFP | ||||
| PGVPTLDNIK | NICHLRRFRS | VPRNLPATDP | LQRELLALIQ | LEREFQRCCR | ||||
| QGNNHTCTWK | AWEDTLDKYC | DREYAVKTHH | HLCCRHPPSP | TRDECFARRA | ||||
| PYPNYDRDIL | TIDIGRVTPN | LMGHLCGNQR | VLTKHKHIPG | LIHNMTARCC | ||||
| DLPFPEQACC | AEEEKLTFIN | DLCGPRRNIW | RDPALCCYLS | PGDEQVNCFN | ||||
| INYLRNVALV | SGDTENAKGQ | GEQGSTGGTN | ISSTSEPKEE |
Funkcija
[uredi|uredi izvor]Ovaj gen kodira vanćelijski protein koji sadrži motive sacisteinskomstrukturom, karakterističnom za cisteinski obrazac domena "dvostruke petlje" koji se vezuju zaligandiz porodicealbuminskihproteina. Ovaj gen nalazi se izvanepidermnog diferencijacionog kompleksa(EDC), skupa od tri porodice gena uključenih udiferencijacijuepiderme.Opisane su alternativno prerađenevarijante transkriptakoje kodiraju različiteizoforme.[7]
Klinički značaj
[uredi|uredi izvor]ECM1 je uključen urak dojke,karcinom štitne žlijezde,hepatoćelijski karcinomi druge tipove raka, kao i uulcerozni kolitis.[9]MutacijeECM-1zametne linijeuzrokuju genetičku bolestlipoidna proteinoza.Autoimunskinapad na ECM-1 je odgovoran zalichen sclerosus(pogledajte Atlas of Genetics and Cytogenetics in Oncology and Haematology).[10]
Također pogledajte
[uredi|uredi izvor]Reference
[uredi|uredi izvor]- ^abcGRCh38: Ensembl release 89: ENSG00000143369-Ensembl,maj 2017
- ^abcGRCm38: Ensembl release 89: ENSMUSG00000028108-Ensembl,maj 2017
- ^"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.
- ^Smits P, Ni J, Feng P, Wauters J, Van Hul W, Boutaibi ME, Dillon PJ, Merregaert J (Jan 1998). "The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization".Genomics.45(3): 487–95.doi:10.1006/geno.1997.4918.PMID9367673.
- ^Johnson MR, Wilkin DJ, Vos HL, Ortiz de Luna RI, Dehejia AM, Polymeropoulos MH, Francomano CA (maj 1998)."Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21".Matrix Biol.16(5): 289–92.doi:10.1016/S0945-053X(97)90017-2.PMID9501329.
- ^ab"Entrez Gene: ECM1 extracellular matrix protein 1".
- ^"UniProt, Q16610"(jezik:.).Pristupljeno 9. 12. 2021.CS1 održavanje: nepoznati jezik (link)
- ^"ECM1 (Extracellular matrix protein 1)".
- ^"Atlas of Genetics and Cytogenetics in Oncology and Haematology".atlasgeneticsoncology.org.
Dopunska literatura
[uredi|uredi izvor]- Viliavin GD, Panchenko KP, Nishanov F, Budaev KD (1978). "[Acid-producing function of the stomach in pyloric ulcers]".Sovetskaia Meditsina(12): 43–5.PMID601588.
- Smits P, Poumay Y, Karperien M, et al. (2000)."Differentiation-dependent alternative splicing and expression of the extracellular matrix protein 1 gene in human keratinocytes".J. Invest. Dermatol.114(4): 718–24.doi:10.1046/j.1523-1747.2000.00916.x.PMID10733679.
- Hamada T, McLean WH, Ramsay M, et al. (2002)."Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)".Hum. Mol. Genet.11(7): 833–40.doi:10.1093/hmg/11.7.833.PMID11929856.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003)."Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences".Proc. Natl. Acad. Sci. U.S.A.99(26): 16899–903.doi:10.1073/pnas.242603899.PMC139241.PMID12477932.
- Hamada T, Wessagowit V, South AP, et al. (2003)."Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation".J. Invest. Dermatol.120(3): 345–50.doi:10.1046/j.1523-1747.2003.12073.x.PMID12603844.
- Matsuda A, Suzuki Y, Honda G, et al. (2003)."Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways".Oncogene.22(21): 3307–18.doi:10.1038/sj.onc.1206406.PMID12761501.
- Wang L, Yu J, Ni J, et al. (2003). "Extracellular matrix protein 1 (ECM1) is over-expressed in malignant epithelial tumors".Cancer Lett.200(1): 57–67.doi:10.1016/S0304-3835(03)00350-1.PMID14550953.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004)."Complete sequencing and characterization of 21,243 full-length human cDNAs".Nat. Genet.36(1): 40–5.doi:10.1038/ng1285.PMID14702039.
- Horev L, Potikha T, Ayalon S, et al. (2006). "A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis".Exp. Dermatol.14(12): 891–7.doi:10.1111/j.1600-0625.2005.00374.x.PMID16274456.S2CID25598548.
- Liu T, Qian WJ, Gritsenko MA, et al. (2006)."Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry".J. Proteome Res.4(6): 2070–80.doi:10.1021/pr0502065.PMC1850943.PMID16335952.
- Fujimoto N, Terlizzi J, Aho S, et al. (2006). "Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions".Exp. Dermatol.15(4): 300–7.doi:10.1111/j.0906-6705.2006.00409.x.PMID16512877.S2CID40715604.
- Lim J, Hao T, Shaw C, et al. (2006)."A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration".Cell.125(4): 801–14.doi:10.1016/j.cell.2006.03.032.PMID16713569.S2CID13709685.
- Han B, Zhang X, Liu Q, et al. (2007)."Homozygous missense mutation in the ECM1 gene in Chinese siblings with lipoid proteinosis".Acta Derm. Venereol.87(5): 387–9.doi:10.2340/00015555-0292.PMID17721643.