TGFBI
(Preusmjereno sa BIG-H3)
Beta-inducirani transformitajući faktor rasta 68kDa, znan i kao TGFBI (inicijalno BIGH3, BIG-H3), jest protein koji je kod ljudi kodiran genom TGFBI sa hromosoma 5, lokus 5q31.[5][6]
Aminokiselinska sekvenca
urediDužina polipeptidnog lanca je 683 aminokiseline, а molekulska težina 74.681 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MALFVRLLAL | ALALALGPAA | TLAGPAKSPY | QLVLQHSRLR | GRQHGPNVCA | ||||
| VQKVIGTNRK | YFTNCKQWYQ | RKICGKSTVI | SYECCPGYEK | VPGEKGCPAA | ||||
| LPLSNLYETL | GVVGSTTTQL | YTDRTEKLRP | EMEGPGSFTI | FAPSNEAWAS | ||||
| LPAEVLDSLV | SNVNIELLNA | LRYHMVGRRV | LTDELKHGMT | LTSMYQNSNI | ||||
| QIHHYPNGIV | TVNCARLLKA | DHHATNGVVH | LIDKVISTIT | NNIQQIIEIE | ||||
| DTFETLRAAV | AASGLNTMLE | GNGQYTLLAP | TNEAFEKIPS | ETLNRILGDP | ||||
| EALRDLLNNH | ILKSAMCAEA | IVAGLSVETL | EGTTLEVGCS | GDMLTINGKA | ||||
| IISNKDILAT | NGVIHYIDEL | LIPDSAKTLF | ELAAESDVST | AIDLFRQAGL | ||||
| GNHLSGSERL | TLLAPLNSVF | KDGTPPIDAH | TRNLLRNHII | KDQLASKYLY | ||||
| HGQTLETLGG | KKLRVFVYRN | SLCIENSCIA | AHDKRGRYGT | LFTMDRVLTP | ||||
| PMGTVMDVLK | GDNRFSMLVA | AIQSAGLTET | LNREGVYTVF | APTNEAFRAL | ||||
| PPRERSRLLG | DAKELANILK | YHIGDEILVS | GGIGALVRLK | SLQGDKLEVS | ||||
| LKNNVVSVNK | EPVAEPDIMA | TNGVVHVITN | VLQPPANRPQ | ERGDELADSA | ||||
| LEIFKQASAF | SRASQRSVRL | APVYQKLLER | MKH |
Pod svjetlosnim mikroskopom, u rožnjači vide se obojeni depoziti karakterističnog proteina TGFBI na površini rožnjačne strome (Massonova trihromska boja)
Funkcija
urediOvaj gen kodira protein RGD – koji se veže za kolagenske tipove I, II i IV. RGD motiv se nalazi u mnogim proteinima vanćelijskog matriksa moduliraju ćelijsku adheziju i služi kao sekvenca prepoznavanja liganda za nekoliko integrina. Ovaj protein ima ulogu u interakciji ćelija-kolagen i može biti uključen u stvaranje endohondrijskih kostiju u stvaranju hrskavice. Protein inducira transformirajući faktor rasta-beta i djeluje tako da inhibira ćelijsku adheziju.[5]
Klinički značaj
urediMutacije ovog gena uzrokuju nekoliko oblika rožnjačne distrofije.[8][9]
Reference
uredi- ^ a b c GRCh38: Ensembl release 89: ENSG00000120708 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035493 - 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.
- ^ a b "Entrez Gene: TGFBI transforming growth factor, beta-induced, 68kDa".
- ^ Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, Schorderet DF (mart 1997). "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies". Nat. Genet. 15 (3): 247–51. doi:10.1038/ng0397-247. PMID 9054935. S2CID 19284412.
- ^ "UniProt, Q15582" (jezik: engleski). Pristupljeno 18. 10. 2021.
- ^ Korvatska E, Munier FL, Djemaï A, Wang MX, Frueh B, Chiou AG, Uffer S, Ballestrazzi E, Braunstein RE, Forster RK, Culbertson WW, Boman H, Zografos L, Schorderet DF (februar 1998). "Mutation hot spots in 5q31-linked corneal dystrophies". Am. J. Hum. Genet. 62 (2): 320–4. doi:10.1086/301720. PMC 1376896. PMID 9463327.
- ^ Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4 (1): 7. doi:10.1186/1750-1172-4-7. PMC 2695576. PMID 19236704.
Dopunska literatura
uredi- Fujiki K, Nakayasu K, Kanai A (2001). "Corneal dystrophies in Japan". J. Hum. Genet. 46 (8): 431–5. doi:10.1007/s100380170041. PMID 11501939.
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- Pieramici SF, Afshari NA (2006). "Genetics of corneal dystrophies: the evolving landscape". Current Opinion in Ophthalmology. 17 (4): 361–6. doi:10.1097/01.icu.0000233955.94347.84. PMID 16900028. S2CID 9671230.
- Skonier J, Neubauer M, Madisen L, et al. (1992). "cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta". DNA Cell Biol. 11 (7): 511–22. doi:10.1089/dna.1992.11.511. PMID 1388724.
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- Escribano J, Hernando N, Ghosh S, et al. (1994). "cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium". J. Cell. Physiol. 160 (3): 511–21. doi:10.1002/jcp.1041600314. PMID 8077289. S2CID 21442005.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Stone EM, Mathers WD, Rosenwasser GO, et al. (1994). "Three autosomal dominant corneal dystrophies map to chromosome 5q". Nat. Genet. 6 (1): 47–51. doi:10.1038/ng0194-47. PMID 8136834. S2CID 44641005.
- Munier FL, Korvatska E, Djemaï A, et al. (1997). "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies". Nat. Genet. 15 (3): 247–51. doi:10.1038/ng0397-247. PMID 9054935. S2CID 19284412.
- Hashimoto K, Noshiro M, Ohno S, et al. (1997). "Characterization of a cartilage-derived 66-kDa protein (RGD-CAP/beta ig-h3) that binds to collagen". Biochim. Biophys. Acta. 1355 (3): 303–14. doi:10.1016/S0167-4889(96)00147-4. PMID 9061001.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Korvatska E, Munier FL, Djemaï A, et al. (1998). "Mutation hot spots in 5q31-linked corneal dystrophies". Am. J. Hum. Genet. 62 (2): 320–4. doi:10.1086/301720. PMC 1376896. PMID 9463327.
- Yamamoto S, Okada M, Tsujikawa M, et al. (1998). "A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA". Am. J. Hum. Genet. 62 (3): 719–22. doi:10.1086/301765. PMC 1376959. PMID 9497262.
- Okada M, Yamamoto S, Watanabe H, et al. (1998). "Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene". Am. J. Ophthalmol. 126 (2): 169–76. doi:10.1016/S0002-9394(98)00075-0. PMID 9727509.
- Okada M, Yamamoto S, Tsujikawa M, et al. (1998). "Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy". Am. J. Ophthalmol. 126 (4): 535–42. doi:10.1016/S0002-9394(98)00135-4. PMID 9780098.
- Fujiki K, Hotta Y, Nakayasu K, et al. (1998). "A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities". Hum. Genet. 103 (3): 286–9. doi:10.1007/s004390050818. PMID 9799082. S2CID 23721847.
- Stewart H, Black GC, Donnai D, et al. (1999). "A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy". Ophthalmology. 106 (5): 964–70. doi:10.1016/S0161-6420(99)00539-4. PMID 10328397.
- Stewart HS, Ridgway AE, Dixon MJ, et al. (1999). "Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis". Hum. Mutat. 14 (2): 126–32. doi:10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W. PMID 10425035.
- Rozzo C, Fossarello M, Galleri G, et al. (2000). "A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online". Hum. Mutat. 12 (3): 215–6. PMID 10660331.
- Page L, Polok B, Bustamante M, Schorderet DF (2013). "Bigh3 is upregulated in regenerating zebrafish fin". Zebrafish. 10 (3): 36–42. doi:10.1089/zeb.2012.0759. PMID 23536989.
Vanjski linkovi
urediOvaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.