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Identification
HMDB Protein ID HMDBP07469
Secondary Accession Numbers
  • 13177
Name Transforming growth factor-beta-induced protein ig-h3
Synonyms
  1. Beta ig-h3
  2. Kerato-epithelin
  3. RGD-CAP
  4. RGD-containing collagen-associated protein
Gene Name TGFBI
Protein Type Unknown
Biological Properties
General Function Cell wall/membrane/envelope biogenesis
Specific Function Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation
Pathways Not Available
Reactions Not Available
GO Classification Not Available
Cellular Location
  1. Secreted
  2. extracellular space
  3. extracellular matrix
Gene Properties
Chromosome Location Chromosome:5
Locus 5q31
SNPs TGFBI
Gene Sequence
>2052 bp
ATGGCGCTCTTCGTGCGGCTGCTGGCTCTCGCCCTGGCTCTGGCCCTGGGCCCCGCCGCG
ACCCTGGCGGGTCCCGCCAAGTCGCCCTACCAGCTGGTGCTGCAGCACAGCAGGCTCCGG
GGCCGCCAGCACGGCCCCAACGTGTGTGCTGTGCAGAAGGTTATTGGCACTAATAGGAAG
TACTTCACCAACTGCAAGCAGTGGTACCAAAGGAAAATCTGTGGCAAATCAACAGTCATC
AGCTACGAGTGCTGTCCTGGATATGAAAAGGTCCCTGGGGAGAAGGGCTGTCCAGCAGCC
CTACCACTCTCAAACCTTTACGAGACCCTGGGAGTCGTTGGATCCACCACCACTCAGCTG
TACACGGACCGCACGGAGAAGCTGAGGCCTGAGATGGAGGGGCCCGGCAGCTTCACCATC
TTCGCCCCTAGCAACGAGGCCTGGGCCTCCTTGCCAGCTGAAGTGCTGGACTCCCTGGTC
AGCAATGTCAACATTGAGCTGCTCAATGCCCTCCGCTACCATATGGTGGGCAGGCGAGTC
CTGACTGATGAGCTGAAACACGGCATGACCCTCACCTCTATGTACCAGAATTCCAACATC
CAGATCCACCACTATCCTAATGGGATTGTAACTGTGAACTGTGCCCGGCTGCTGAAAGCC
GACCACCATGCAACCAACGGGGTGGTGCACCTCATCGATAAGGTCATCTCCACCATCACC
AACAACATCCAGCAGATCATTGAGATCGAGGACACCTTTGAGACCCTTCGGGCTGCTGTG
GCTGCATCAGGGCTCAACACGATGCTTGAAGGTAACGGCCAGTACACGCTTTTGGCCCCG
ACCAATGAGGCCTTCGAGAAGATCCCTAGTGAGACTTTGAACCGTATCCTGGGCGACCCA
GAAGCCCTGAGAGACCTGCTGAACAACCACATCTTGAAGTCAGCTATGTGTGCTGAAGCC
ATCGTTGCGGGGCTGTCTGTAGAGACCCTGGAGGGCACGACACTGGAGGTGGGCTGCAGC
GGGGACATGCTCACTATCAACGGGAAGGCGATCATCTCCAATAAAGACATCCTAGCCACC
AACGGGGTGATCCACTACATTGATGAGCTACTCATCCCAGACTCAGCCAAGACACTATTT
GAATTGGCTGCAGAGTCTGATGTGTCCACAGCCATTGACCTTTTCAGACAAGCCGGCCTC
GGCAATCATCTCTCTGGAAGTGAGCGGTTGACCCTCCTGGCTCCCCTGAATTCTGTATTC
AAAGATGGAACCCCTCCAATTGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATT
AAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGC
AAAAAACTGAGAGTTTTTGTTTATCGTAATAGCCTCTGCATTGAGAACAGCTGCATCGCG
GCCCACGACAAGAGGGGGAGGTACGGGACCCTGTTCACGATGGACCGGGTGCTGACCCCC
CCAATGGGGACTGTCATGGATGTCCTGAAGGGAGACAATCGCTTTAGCATGCTGGTAGCT
GCCATCCAGTCTGCAGGACTGACGGAGACCCTCAACCGGGAAGGAGTCTACACAGTCTTT
GCTCCCACAAATGAAGCCTTCCGAGCCCTGCCACCAAGAGAACGGAGCAGACTCTTGGGA
GATGCCAAGGAACTTGCCAACATCCTGAAATACCACATTGGTGATGAAATCCTGGTTAGC
GGAGGCATCGGGGCCCTGGTGCGGCTAAAGTCTCTCCAAGGTGACAAGCTGGAAGTCAGC
TTGAAAAACAATGTGGTGAGTGTCAACAAGGAGCCTGTTGCCGAGCCTGACATCATGGCC
ACAAATGGCGTGGTCCATGTCATCACCAATGTTCTGCAGCCTCCAGCCAACAGACCTCAG
GAAAGAGGGGATGAACTTGCAGACTCTGCGCTTGAGATCTTCAAACAAGCATCAGCGTTT
TCCAGGGCTTCCCAGAGGTCTGTGCGACTAGCCCCTGTCTATCAAAAGTTATTAGAGAGG
ATGAAGCATTAG
Protein Properties
Number of Residues 683
Molecular Weight 74680.2
Theoretical pI 7.77
Pfam Domain Function
Signals
  • 1-23
Transmembrane Regions
  • None
Protein Sequence
>Transforming growth factor-beta-induced protein ig-h3
MALFVRLLALALALALGPAATLAGPAKSPYQLVLQHSRLRGRQHGPNVCAVQKVIGTNRK
YFTNCKQWYQRKICGKSTVISYECCPGYEKVPGEKGCPAALPLSNLYETLGVVGSTTTQL
YTDRTEKLRPEMEGPGSFTIFAPSNEAWASLPAEVLDSLVSNVNIELLNALRYHMVGRRV
LTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLLKADHHATNGVVHLIDKVISTIT
NNIQQIIEIEDTFETLRAAVAASGLNTMLEGNGQYTLLAPTNEAFEKIPSETLNRILGDP
EALRDLLNNHILKSAMCAEAIVAGLSVETLEGTTLEVGCSGDMLTINGKAIISNKDILAT
NGVIHYIDELLIPDSAKTLFELAAESDVSTAIDLFRQAGLGNHLSGSERLTLLAPLNSVF
KDGTPPIDAHTRNLLRNHIIKDQLASKYLYHGQTLETLGGKKLRVFVYRNSLCIENSCIA
AHDKRGRYGTLFTMDRVLTPPMGTVMDVLKGDNRFSMLVAAIQSAGLTETLNREGVYTVF
APTNEAFRALPPRERSRLLGDAKELANILKYHIGDEILVSGGIGALVRLKSLQGDKLEVS
LKNNVVSVNKEPVAEPDIMATNGVVHVITNVLQPPANRPQERGDELADSALEIFKQASAF
SRASQRSVRLAPVYQKLLERMKH
GenBank ID Protein 4507467
UniProtKB/Swiss-Prot ID Q15582
UniProtKB/Swiss-Prot Entry Name BGH3_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_000358.2
GeneCard ID TGFBI
GenAtlas ID TGFBI
HGNC ID HGNC:11771
References
General References
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  2. Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM: The DNA sequence and comparative analysis of human chromosome 5. Nature. 2004 Sep 16;431(7006):268-74. [PubMed:15372022 ]
  3. Skonier J, Neubauer M, Madisen L, Bennett K, Plowman GD, Purchio AF: 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. 1992 Sep;11(7):511-22. [PubMed:1388724 ]
  4. Munier FL, Korvatska E, Djemai A, Le Paslier D, Zografos L, Pescia G, Schorderet DF: Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997 Mar;15(3):247-51. [PubMed:9054935 ]
  5. Escribano J, Hernando N, Ghosh S, Crabb J, Coca-Prados M: 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. 1994 Sep;160(3):511-21. [PubMed:8077289 ]
  6. Fujiki K, Nakayasu K, Kanai A: Corneal dystrophies in Japan. J Hum Genet. 2001;46(8):431-5. [PubMed:11501939 ]
  7. Korvatska E, Munier FL, Djemai A, Wang MX, Frueh B, Chiou AG, Uffer S, Ballestrazzi E, Braunstein RE, Forster RK, Culbertson WW, Boman H, Zografos L, Schorderet DF: Mutation hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet. 1998 Feb;62(2):320-4. [PubMed:9463327 ]
  8. Yamamoto S, Okada M, Tsujikawa M, Shimomura Y, Nishida K, Inoue Y, Watanabe H, Maeda N, Kurahashi H, Kinoshita S, Nakamura Y, Tano Y: A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet. 1998 Mar;62(3):719-22. [PubMed:9497262 ]
  9. Okada M, Yamamoto S, Tsujikawa M, Watanabe H, Inoue Y, Maeda N, Shimomura Y, Nishida K, Quantock AJ, Kinoshita S, Tano Y: Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy. Am J Ophthalmol. 1998 Oct;126(4):535-42. [PubMed:9780098 ]
  10. Fujiki K, Hotta Y, Nakayasu K, Yokoyama T, Takano T, Yamaguchi T, Kanai A: A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. Hum Genet. 1998 Sep;103(3):286-9. [PubMed:9799082 ]
  11. Rozzo C, Fossarello M, Galleri G, Sole G, Serru A, Orzalesi N, Serra A, Pirastu M: A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bucklers corneal dystrophy patients. Mutations in brief no. 180. Online. Hum Mutat. 1998;12(3):215-6. [PubMed:10660331 ]
  12. Stewart HS, Ridgway AE, Dixon MJ, Bonshek R, Parveen R, Black G: Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. Hum Mutat. 1999;14(2):126-32. [PubMed:10425035 ]
  13. Stewart H, Black GC, Donnai D, Bonshek RE, McCarthy J, Morgan S, Dixon MJ, Ridgway AA: A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. Ophthalmology. 1999 May;106(5):964-70. [PubMed:10328397 ]
  14. Mashima Y, Yamamoto S, Inoue Y, Yamada M, Konishi M, Watanabe H, Maeda N, Shimomura Y, Kinoshita S: Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. Am J Ophthalmol. 2000 Oct;130(4):516-7. [PubMed:11024425 ]
  15. Dighiero P, Drunat S, D'Hermies F, Renard G, Delpech M, Valleix S: A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126. Arch Ophthalmol. 2000 Jun;118(6):814-8. [PubMed:10865320 ]
  16. Hirano K, Hotta Y, Fujiki K, Kanai A: Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene. Br J Ophthalmol. 2000 Jun;84(6):583-5. [PubMed:10837380 ]
  17. Hirano K, Hotta Y, Nakamura M, Fujiki K, Kanai A, Yamamoto N: Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene. Cornea. 2001 Jul;20(5):525-9. [PubMed:11413411 ]
  18. Dighiero P, Niel F, Ellies P, D'Hermies F, Savoldelli M, Renard G, Delpech M, Valleix S: Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene. Ophthalmology. 2001 Apr;108(4):818-23. [PubMed:11297504 ]
  19. Munier FL, Frueh BE, Othenin-Girard P, Uffer S, Cousin P, Wang MX, Heon E, Black GC, Blasi MA, Balestrazzi E, Lorenz B, Escoto R, Barraquer R, Hoeltzenbein M, Gloor B, Fossarello M, Singh AD, Arsenijevic Y, Zografos L, Schorderet DF: BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci. 2002 Apr;43(4):949-54. [PubMed:11923233 ]
  20. Warren JF, Abbott RL, Yoon MK, Crawford JB, Spencer WH, Margolis TP: A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. Am J Ophthalmol. 2003 Nov;136(5):872-8. [PubMed:14597039 ]
  21. Ha NT, Cung le X, Chau HM, Thanh TK, Fujiki K, Murakami A, Kanai A: A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy. Jpn J Ophthalmol. 2003 May-Jun;47(3):246-8. [PubMed:12782158 ]
  22. Aldave AJ, Gutmark JG, Yellore VS, Affeldt JA, Meallet MA, Udar N, Rao NA, Small KW, Klintworth GK: Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. Am J Ophthalmol. 2004 Nov;138(5):772-81. [PubMed:15531312 ]
  23. Chakravarthi SV, Kannabiran C, Sridhar MS, Vemuganti GK: TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. Invest Ophthalmol Vis Sci. 2005 Jan;46(1):121-5. [PubMed:15623763 ]
  24. Stix B, Leber M, Bingemer P, Gross C, Ruschoff J, Fandrich M, Schorderet DF, Vorwerk CK, Zacharias M, Roessner A, Rocken C: Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. Invest Ophthalmol Vis Sci. 2005 Apr;46(4):1133-9. [PubMed:15790870 ]
  25. Tian X, Fujiki K, Wang W, Murakami A, Xie P, Kanai A, Liu Z: Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I. Jpn J Ophthalmol. 2005 Mar-Apr;49(2):84-8. [PubMed:15838722 ]
  26. Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF: A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum Mutat. 2006 Jun;27(6):553-7. [PubMed:16652336 ]
  27. Atchaneeyasakul LO, Appukuttan B, Pingsuthiwong S, Yenchitsomanus PT, Trinavarat A, Srisawat C: A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I. Jpn J Ophthalmol. 2006 Sep-Oct;50(5):403-8. [PubMed:17013691 ]
  28. Aldave AJ, Rayner SA, Kim BT, Prechanond A, Yellore VS: Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. Mol Vis. 2006 Feb 27;12:142-6. [PubMed:16541014 ]
  29. Zenteno JC, Ramirez-Miranda A, Santacruz-Valdes C, Suarez-Sanchez R: Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy. Mol Vis. 2006 Apr 10;12:331-5. [PubMed:16636649 ]