Elastin
| Elastin | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||||
| Simboli | ELN; SVAS; WBS; WS | ||||||||||
| Vanjski ID | OMIM: 130160 MGI: 95317 HomoloGene: 73880 GeneCards: ELN Gene | ||||||||||
| |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 2006 | 13717 | |||||||||
| Ensembl | ENSG00000049540 | ENSMUSG00000029675 | |||||||||
| UniProt | P15502 | P54320 | |||||||||
| Ref. Sekv. (iRNK) | NM_000501.2 | NM_007925.3 | |||||||||
| Ref. Sekv. (protein) | NP_000492.2 | NP_031951.2 | |||||||||
| Lokacija (UCSC) |
Chr 7: 73.44 - 73.48 Mb |
Chr 5: 135.18 - 135.22 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
Elastin je sastavna komponenta ekstracelularnog matriksa. Mnoga tkiva i organi u organizmu zahtevaju da budu jaki i ujedno elastični (krvni sudovi, koža, pluća...), što omogućavaju elasinska vlakna. Elastin se uvek nalazi uz nerstegljiviji kolagen kako bi se ograničilo rastezanje samog tkiva koje izgrađuje. Kod ljudi, elastin je kodiran ELN genom.[1]
Funkcija[uredi | uredi izvor]
Ovaj gen kodira protein koji jedna od dve komponente elastičnih vlakana. On je bogat u hidrofobnim aminokiselinama kao što su glicin i prolin, koje formiraju mobilne hidrofobne regione povezane unakrsnim vezama između lizinskih ostataka.[2] Višestruke transkriptne varijante koje kodiraju različite izoforme ovog gena su nađene.[2] Drugo ime za elastin je tropoelastin.[3][4]
Reference[uredi | uredi izvor]
- ^ Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT (1993). „The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis”. Cell. 73 (1): 159—68. PMID 8096434. doi:10.1016/0092-8674(93)90168-P.
- ^ a b „Entrez Gene: elastin”.
- ^ „Elastin (ELN)”. Arhivirano iz originala 13. 03. 2017. g. Pristupljeno 31. 10. 2011.
- ^ Lisa D Muiznieks, Anthony S Weiss and Fred W Keeley (2010). „Structural disorder and dynamics of elastin.”. Biochem Cell Biol. 88 (2): 239—50. PMID 20453927. doi:10.1139/o09-161.
Literatura[uredi | uredi izvor]
- Jan SL, Chan SC, Fu YC, Lin SJ (2009). „Elastin gene study of infants with isolated congenital ductus arteriosus aneurysm.”. Acta Cardiol. 64 (3): 363—9. PMID 19593948.
- Keeley FW, Bellingham CM, Woodhouse KA (2002). „Elastin as a self-organizing biomaterial: use of recombinantly expressed human elastin polypeptides as a model for investigations of structure and self-assembly of elastin”. Philos. Trans. R. Soc. Lond., B, Biol. Sci. 357 (1418): 185—9. PMC 1692930
. PMID 11911775. doi:10.1098/rstb.2001.1027. - Choudhury, R.; A, McGovern; C, Ridley; et al. (2009). „Differential regulation of elastic fiber formation by fibulin-4 and -5”. J. Biol. Chem. 284 (36): 24553—67. PMC 2782046 . PMID 19570982. doi:10.1074/jbc.M109.019364.
- Hubmacher, D.; JT, Cirulis; M, Miao; et al. (2010). „Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin”. J. Biol. Chem. 285 (2): 1188—98. PMC 2801247 . PMID 19889633. doi:10.1074/jbc.M109.021246.
- Coolen NA, Schouten KC, Middelkoop E, Ulrich MM (2010). „Comparison between human fetal and adult skin”. Arch. Dermatol. Res. 302 (1): 47—55. PMC 2799629 . PMID 19701759. doi:10.1007/s00403-009-0989-8.
- McGeachie, M.; RL, Ramoni; JC, Mychaleckyj; et al. (2009). „Integrative predictive model of coronary artery calcification in atherosclerosis”. Circulation. 120 (24): 2448—54. PMC 2810344 . PMID 19948975. doi:10.1161/CIRCULATIONAHA.109.865501.
- Yoshida, T.; K, Kato; K, Yokoi; et al. (2009). „Association of genetic variants with chronic kidney disease in individuals with different lipid profiles”. Int. J. Mol. Med. 24 (2): 233—46. PMID 19578796.
- Akima, T.; K, Nakanishi; K, Suzuki; et al. (2009). „Soluble elastin decreases in the progress of atheroma formation in human aorta”. Circ. J. 73 (11): 2154—62. PMID 19755752.
- Chen, Q.; T, Zhang; JF, Roshetsky; et al. (2009). „Fibulin-4 regulates expression of the tropoelastin gene and consequent elastic-fibre formation by human fibroblasts”. Biochem. J. 423 (1): 79—89. PMC 3024593 . PMID 19627254. doi:10.1042/BJ20090993.
- Tintar, D.; V, Samouillan; J, Dandurand; et al. (2009). „Human tropoelastin sequence: dynamics of polypeptide coded by exon 6 in solution”. Biopolymers. 91 (11): 943—52. PMID 19603496. doi:10.1002/bip.21282.
- Dyksterhuis LB, Weiss AS (2010). „Homology models for domains 21-23 of human tropoelastin shed light on lysine crosslinking”. Biochem. Biophys. Res. Commun. 396 (4): 870—3. PMID 20457133. doi:10.1016/j.bbrc.2010.05.013.
- Romero, R.; DR, Velez Edwards; JP, Kusanovic; et al. (2010). „Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes”. Am. J. Obstet. Gynecol. 202 (5): 431.e1—34. PMID 20452482. doi:10.1016/j.ajog.2010.03.026.
- Fan, B. J.; DR, Figuieredo Sena; LR, Pasquale; et al. (2009). „Lack of Association of Polymorphisms in Elastin With Pseudoexfoliation Syndrome and Glaucoma”. Journal of glaucoma. 19 (7): 432—436. PMID 20051886. doi:10.1097/IJG.0b013e3181c4b0fe.
- Bertram C, Hass R (2009). „Cellular senescence of human mammary epithelial cells (HMEC) is associated with an altered MMP-7/HB-EGF signaling and increased formation of elastin-like structures”. Mech. Ageing Dev. 130 (10): 657—69. PMID 19682489. doi:10.1016/j.mad.2009.08.001.
- Roberts, K. E.; SM, Kawut; MJ, Krowka; et al. (2010). „Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease”. Gastroenterology. 139 (1): 130—9.e24. PMC 2908261 . PMID 20346360. doi:10.1053/j.gastro.2010.03.044.
- Rosenbloom, J. (1984). „Elastin: relation of protein and gene structure to disease”. Lab. Invest. 51 (6): 605—23. PMID 6150137.
- Bax DV, Rodgers UR, Bilek MM, Weiss AS (2009). „Cell adhesion to tropoelastin is mediated via the C-terminal GRKRK motif and integrin alphaVbeta3”. J. Biol. Chem. 284 (42): 28616—23. PMC 2781405 . PMID 19617625. doi:10.1074/jbc.M109.017525.
- Rodriguez-Revenga L; P, Iranzo; C, Badenas; et al. (2004). „A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa”. Arch Dermatol. 140 (9): 1135—9. PMID 15381555. doi:10.1001/archderm.140.9.1135.
- Micale, L.; MG, Turturo; C, Fusco; et al. (2010). „Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis”. Eur. J. Hum. Genet. 18 (3): 317—23. PMC 2987220 . PMID 19844261. doi:10.1038/ejhg.2009.181.
- Tzaphlidou, M. (2004). „The role of collagen and elastin in aged skin: an image processing approach”. Micron. 35 (3): 173—7. PMID 15036271. doi:10.1016/j.micron.2003.11.003.
Spoljašnje veze[uredi | uredi izvor]
- Elastin na US National Library of Medicine Medical Subject Headings (MeSH)
- Vilijams-Bjuren sindrom
