TGFBI

TGFBI
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1X3B, 2LTB, 2LTC, 2VXP
Identifikatori
Aliasi	TGFBI
Vanjski ID-jevi	OMIM: 601692 MGI: 99959 HomoloGene: 37294 GeneCards: TGFBI
Lokacija gena (čovjek)
Hrom.	Hromosom 5 (čovjek)
Kraj	136,063,818 bp
Lokacija gena (miš)
Hrom.	Hromosom 13 (miš)
Kraj	56,787,375 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• integrin binding; • GO:0001948, GO:0016582 vezivanje za proteine; • collagen binding; • extracellular matrix binding; • extracellular matrix structural constituent; • cell adhesion molecule binding;
Ćelijska komponenta	• GO:0005578 Vanćelijski matriks; • basement membrane; • trans-Golđijeva mreža; • ćelijska membrana; • Egzosom; • Vanćelijsko; • extracellular region; • collagen-containing extracellular matrix;
Biološki proces	• negative regulation of cell adhesion; • Ćelijska proliferacija; • chondrocyte differentiation; • Angiogeneza; • response to stimulus; • Vid; • Ćelijska adhezija; • extracellular matrix organization;
	Izvori:Amigo / QuickGO
Ortolozi
	7045
	21810
	ENSG00000120708
	ENSMUSG00000035493
	Q15582
	P82198
	NM_000358
	NM_009369
	NP_000349
	NP_033395
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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

Dužina polipeptidnog lanca je 683 aminokiseline, а molekulska težina 74.681 Da.^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

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

Rožnjačna distrofija Bowmanovog sloja tip I (Reis-Bücklerova rožnjačna distrofija.
Pod svjetlosnim mikroskopom, u rožnjači vide se obojeni depoziti karakterističnog proteina TGFBI na površini rožnjačne strome (Massonova trihromska boja)

Funkcija

Ovaj 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

Mutacije ovog gena uzrokuju nekoliko oblika rožnjačne distrofije.^[8]^[9]

Reference

^ ^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

Fujiki K, Nakayasu K, Kanai A (2001). "Corneal dystrophies in Japan". J. Hum. Genet. 46 (8): 431–5. doi:10.1007/s100380170041. PMID 11501939.
Schmitt-Bernard CF, Pouliquen Y, Argilès A (2004). "[BIG-H3 protein: mutation of codon 124 and corneal amyloidosis]". Journal français d'ophtalmologie. 27 (5): 510–22. doi:10.1016/S0181-5512(04)96173-6. PMID 15179309.
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.
LeBaron RG, Bezverkov KI, Zimber MP, et al. (1995). "Beta IG-H3, a novel secretory protein inducible by transforming growth factor-beta, is present in normal skin and promotes the adhesion and spreading of dermal fibroblasts in vitro". J. Invest. Dermatol. 104 (5): 844–9. doi:10.1111/1523-1747.ep12607024. PMID 7738366.
Skonier J, Bennett K, Rothwell V, et al. (1994). "beta ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice". DNA Cell Biol. 13 (6): 571–84. doi:10.1089/dna.1994.13.571. PMID 8024701.
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

Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000120708 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035493 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: TGFBI transforming growth factor, beta-induced, 68kDa".

[pmid9054935-6] 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-7] "UniProt, Q15582" (jezik: engleski). Pristupljeno 18. 10. 2021.

[pmid9463327-8] 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.

[pmid19236704-9] Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4 (1): 7. doi:10.1186/1750-1172-4-7. PMC 2695576. PMID 19236704.

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