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Q15582 (BGH3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 151. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transforming growth factor-beta-induced protein ig-h3

Short name=Beta ig-h3
Alternative name(s):
Kerato-epithelin
RGD-containing collagen-associated protein
Short name=RGD-CAP
Gene names
Name:TGFBI
Synonyms:BIGH3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length683 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Subcellular location

Secretedextracellular spaceextracellular matrix. Note: May be associated both with microfibrils and with the cell surface.

Tissue specificity

Highly expressed in the corneal epithelium. Ref.8

Induction

By TGFB1.

Post-translational modification

Gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation. These residues are essential for the binding of calcium By similarity.

Involvement in disease

Corneal dystrophy, epithelial basement membrane (EBMD) [MIM:121820]: A bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.30

Corneal dystrophy, Groenouw type 1 (CDGG1) [MIM:121900]: A rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.27

Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating, elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration sometimes occurs.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14 Ref.20 Ref.21 Ref.24 Ref.26 Ref.27 Ref.29 Ref.31 Ref.32

Corneal dystrophy, Thiel-Behnke type (CDTB) [MIM:602082]: A bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Corneal dystrophy, Reis-Bucklers type (CDRB) [MIM:608470]: A bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including disoriented collagen fibrils.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13 Ref.15 Ref.27

Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471]: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL3A is characterized by decreased visual acuity, and the presence of thick, ropy branching lattice lines and accumulations of amyloid deposits in the corneal stroma. Systemic amyloidosis is absent. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.28

Corneal dystrophy, Avellino type (CDA) [MIM:607541]: A corneal disease resulting in reduced visual acuity and characterized by gray, crumb-like granular deposits in the anterior third of the stroma in each corneal button. Fusiform amyloid deposits, histochemically and morphologically identical to those of lattice corneal dystrophy, are found in the deeper stroma. Additional features include recurrent corneal erosions, and glare and decreased night vision.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities

Contains 1 EMI domain.

Contains 4 FAS1 domains.

Ontologies

Keywords
   Biological processCell adhesion
Sensory transduction
Vision
   Cellular componentAmyloid
Extracellular matrix
Secreted
   Coding sequence diversityPolymorphism
   DiseaseAmyloidosis
Corneal dystrophy
Disease mutation
   DomainRepeat
Signal
   PTMDisulfide bond
Gamma-carboxyglutamic acid
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processangiogenesis

Inferred from expression pattern PubMed 11866539. Source: UniProtKB

cell adhesion

Inferred from electronic annotation. Source: UniProtKB-KW

cell proliferation

Traceable author statement Ref.1. Source: ProtInc

chondrocyte differentiation

Inferred from electronic annotation. Source: Ensembl

extracellular matrix organization

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell adhesion

Traceable author statement PubMed 8024701. Source: ProtInc

response to stimulus

Inferred from electronic annotation. Source: UniProtKB-KW

visual perception

Traceable author statement Ref.11. Source: ProtInc

   Cellular_componentbasement membrane

Inferred from electronic annotation. Source: Ensembl

extracellular region

Traceable author statement. Source: Reactome

extracellular space

Traceable author statement Ref.1. Source: ProtInc

extracellular vesicular exosome

Inferred from direct assay PubMed 21362503. Source: UniProtKB

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionextracellular matrix binding

Inferred from electronic annotation. Source: Ensembl

integrin binding

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323 By similarity
Chain24 – 683660Transforming growth factor-beta-induced protein ig-h3
PRO_0000008769

Regions

Domain45 – 9955EMI
Domain103 – 236134FAS1 1
Domain240 – 371132FAS1 2
Domain375 – 498124FAS1 3
Domain502 – 632131FAS1 4
Motif642 – 6443Cell attachment site Potential

Amino acid modifications

Modified residue10814-carboxyglutamate Potential
Modified residue12614-carboxyglutamate Potential
Modified residue13114-carboxyglutamate Potential
Modified residue13314-carboxyglutamate Potential
Modified residue14614-carboxyglutamate Potential
Modified residue15414-carboxyglutamate Potential
Modified residue16614-carboxyglutamate Potential
Modified residue18414-carboxyglutamate Potential
Modified residue24814-carboxyglutamate Potential
Modified residue25014-carboxyglutamate Potential
Modified residue25414-carboxyglutamate Potential
Modified residue27014-carboxyglutamate Potential
Modified residue28314-carboxyglutamate Potential
Modified residue28614-carboxyglutamate Potential
Modified residue29114-carboxyglutamate Potential
Modified residue30114-carboxyglutamate Potential
Modified residue31914-carboxyglutamate Potential
Modified residue32814-carboxyglutamate Potential
Modified residue33114-carboxyglutamate Potential
Modified residue33614-carboxyglutamate Potential
Modified residue52914-carboxyglutamate Potential
Modified residue53414-carboxyglutamate Potential
Modified residue54514-carboxyglutamate Potential
Modified residue55414-carboxyglutamate Potential
Modified residue56414-carboxyglutamate Potential
Modified residue57614-carboxyglutamate Potential
Modified residue59814-carboxyglutamate Potential
Modified residue61114-carboxyglutamate Potential
Modified residue61514-carboxyglutamate Potential
Disulfide bond49 ↔ 85 By similarity
Disulfide bond65 ↔ 74 By similarity
Disulfide bond84 ↔ 97 By similarity

Natural variations

Natural variant1131V → I in granular corneal dystrophy; unclassified form; with centrifuge pattern of opacities. Ref.33
VAR_031531
Natural variant1231D → H in granular corneal dystrophy; unclassified form; Hanoi. Ref.25
VAR_031532
Natural variant1241R → C in CDL1. Ref.2 Ref.11 Ref.18 Ref.22 Ref.23 Ref.27
VAR_005076
Natural variant1241R → H in CDA; most common mutation in Japanese. Ref.2 Ref.11 Ref.16 Ref.18 Ref.22 Ref.23
VAR_005077
Natural variant1241R → L in CDRB. Ref.13 Ref.18 Ref.19 Ref.22 Ref.27
VAR_005078
Natural variant1241R → S in CDGG1; late-onset; mild ocular irritation and reduction in visual acuity. Ref.16 Ref.23
VAR_012444
Natural variant125 – 1262Missing Associated with Leu-124 in atypical granular dystrophy; French granular variant.
VAR_012445
Natural variant2001I → F. Ref.3
Corresponds to variant rs45455404 [ dbSNP | Ensembl ].
VAR_014335
Natural variant2691L → F. Ref.27
VAR_031533
Natural variant4961R → G.
Corresponds to variant rs10057190 [ dbSNP | Ensembl ].
VAR_031534
Natural variant5011P → T in CDL3A. Ref.12 Ref.18
Corresponds to variant rs121909212 [ dbSNP | Ensembl ].
VAR_005079
Natural variant5051V → D in CDL1. Ref.29
VAR_031535
Natural variant5091L → R in EBMD. Ref.30
VAR_031536
Natural variant5181L → P in CDL1. Ref.20
VAR_012446
Natural variant5181L → R in CDL1; severe phenotype; delayed age of onset. Ref.23
VAR_018484
Natural variant5271L → R in CDL1; late-onset; found also in sporadic cases. Ref.14 Ref.18 Ref.21
VAR_005080
Natural variant5381T → R in CDL1; delayed age of onset. Ref.23
VAR_018485
Natural variant5391V → D in lattice corneal dystrophy; unclassified form. Ref.27
VAR_031537
Natural variant5401F → S in CDL3A. Ref.28
VAR_031538
Natural variant5401Missing in CDRB. Ref.15 Ref.23
VAR_005081
Natural variant5441N → S in CDL; late-onset. Ref.18
VAR_012447
Natural variant5461A → D in CDL1; associated with Q-551. Ref.26
VAR_031539
Natural variant5461A → T in CDL3A. Ref.22
VAR_012448
Natural variant5511P → Q in CDL1; associated with D-546. Ref.26
VAR_031540
Natural variant5551R → Q in CDTB; originally thought to cause CDRB. Ref.2 Ref.11 Ref.18 Ref.22
VAR_005082
Natural variant5551R → W in CDGG1; common mutation in Europe and United States; rare in Japan. Ref.2 Ref.11 Ref.16 Ref.18 Ref.22 Ref.23 Ref.27
VAR_005083
Natural variant5691L → R in CDL1. Ref.24
VAR_031541
Natural variant5721H → R in CDL1; late-onset. Ref.31
VAR_031543
Natural variant5721Missing in CDL1; late-onset and unilateral phenotype. Ref.32
VAR_031542
Natural variant5941G → V in lattice corneal dystrophy; unclassified form. Ref.27
VAR_031544
Natural variant6221N → H in asymmetric lattice corneal dystrophy. Ref.17
VAR_012449
Natural variant6221N → K in CDL3A. Ref.23
VAR_018486
Natural variant6231G → D in CDL1; delayed age of onset. Ref.23
VAR_018487
Natural variant624 – 6252Missing in lattice corneal dystrophy; unclassified form.
VAR_031545
Natural variant6261H → P in CDL1. Ref.23
VAR_018488
Natural variant6261H → R in CDL1; delayed age of onset. Ref.17 Ref.22 Ref.23 Ref.27
VAR_012450
Natural variant6311V → D in CDL. Ref.23
VAR_018489
Natural variant6661R → S in EBMD; low penetrance in one family. Ref.30
Corresponds to variant rs121909217 [ dbSNP | Ensembl ].
VAR_031546

Secondary structure

.............................. 683
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q15582 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 40FDC8A71EBB3D00

FASTA68374,681
        10         20         30         40         50         60 
MALFVRLLAL ALALALGPAA TLAGPAKSPY QLVLQHSRLR GRQHGPNVCA VQKVIGTNRK 

        70         80         90        100        110        120 
YFTNCKQWYQ RKICGKSTVI SYECCPGYEK VPGEKGCPAA LPLSNLYETL GVVGSTTTQL 

       130        140        150        160        170        180 
YTDRTEKLRP EMEGPGSFTI FAPSNEAWAS LPAEVLDSLV SNVNIELLNA LRYHMVGRRV 

       190        200        210        220        230        240 
LTDELKHGMT LTSMYQNSNI QIHHYPNGIV TVNCARLLKA DHHATNGVVH LIDKVISTIT 

       250        260        270        280        290        300 
NNIQQIIEIE DTFETLRAAV AASGLNTMLE GNGQYTLLAP TNEAFEKIPS ETLNRILGDP 

       310        320        330        340        350        360 
EALRDLLNNH ILKSAMCAEA IVAGLSVETL EGTTLEVGCS GDMLTINGKA IISNKDILAT 

       370        380        390        400        410        420 
NGVIHYIDEL LIPDSAKTLF ELAAESDVST AIDLFRQAGL GNHLSGSERL TLLAPLNSVF 

       430        440        450        460        470        480 
KDGTPPIDAH TRNLLRNHII KDQLASKYLY HGQTLETLGG KKLRVFVYRN SLCIENSCIA 

       490        500        510        520        530        540 
AHDKRGRYGT LFTMDRVLTP PMGTVMDVLK GDNRFSMLVA AIQSAGLTET LNREGVYTVF 

       550        560        570        580        590        600 
APTNEAFRAL PPRERSRLLG DAKELANILK YHIGDEILVS GGIGALVRLK SLQGDKLEVS 

       610        620        630        640        650        660 
LKNNVVSVNK EPVAEPDIMA TNGVVHVITN VLQPPANRPQ ERGDELADSA LEIFKQASAF 

       670        680 
SRASQRSVRL APVYQKLLER MKH 

« Hide

References

« Hide 'large scale' references
[1]"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."
Skonier J., Neubauer M., Madisen L., Bennett K., Plowman G.D., Purchio A.F.
DNA Cell Biol. 11:511-522(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Kerato-epithelin mutations in four 5q31-linked corneal dystrophies."
Munier F.L., Korvatska E., Djemai A., le Paslier D., Zografos L., Pescia G., Schorderet D.F.
Nat. Genet. 15:247-251(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; GLN-555 AND TRP-555.
[3]NIEHS SNPs program
Submitted (SEP-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PHE-200.
[4]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., 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 J.P., 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 J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Kidney.
[8]"cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium."
Escribano J., Hernando N., Ghosh S., Crabb J., Coca-Prados M.
J. Cell. Physiol. 160:511-521(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[9]"Corneal dystrophies in Japan."
Fujiki K., Nakayasu K., Kanai A.
J. Hum. Genet. 46:431-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON VARIANTS CORNEAL DYSTROPHIES.
[10]"Solution structure of the FAS1 domain of human transforming growth factor-beta induced protein IG-H3."
RIKEN structural genomics initiative (RSGI)
Submitted (JAN-2006) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 502-634.
[11]"Mutation hot spots in 5q31-linked corneal dystrophies."
Korvatska E., Munier F.L., Djemai A., Wang M.X., Frueh B., Chiou A.G.-Y., Uffer S., Ballestrazzi E., Braunstein R.E., Forster R.K., Culbertson W.W., Boman H., Zografos L., Schorderet D.F.
Am. J. Hum. Genet. 62:320-324(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; GLN-555 AND TRP-555.
[12]"A kerato-epithelin (beta-ig-h3) mutation in lattice corneal dystrophy type IIIA."
Yamamoto S., Okada M., Tsujikawa M., Shimomura Y., Nishida K., Inoue Y., Watanabe H., Maeda N., Kurahashi H., Kinoshita S., Nakamura Y., Tano Y.
Am. J. Hum. Genet. 62:719-722(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDL3A THR-501.
[13]"Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy."
Okada M., Yamamoto S., Tsujikawa M., Watanabe H., Inoue Y., Maeda N., Shimomura Y., Nishida K., Quantock A.J., Kinoshita S., Tano Y.
Am. J. Ophthalmol. 126:535-542(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDRB LEU-124.
[14]"A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities."
Fujiki K., Hotta Y., Nakayasu K., Yokoyama T., Takano T., Yamaguchi T., Kanai A.
Hum. Genet. 103:286-289(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDL1 ARG-527.
[15]"A common beta ig-h3 gene mutation (delta F540) in a large cohort of Sardinian Reis Buecklers' corneal dystrophy patients."
Rozzo C., Fossarello M., Galleri G., Sole G., Serru A., Orzalesi N., Serra A., Pirastu M.
Hum. Mutat. 12:215-216(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDRB PHE-540 DEL.
[16]"Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis."
Stewart H.S., Ridgway A.E., Dixon M.J., Bonshek R.E., Parveen R., Black G.C.
Hum. Mutat. 14:126-132(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CORNEAL DYSTROPHIES HIS-124; SER-124 AND TRP-555.
[17]"A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy."
Stewart H.S., Black G.C., Donnai D., Bonshek R.E., McCarthy J., Morgan S., Dixon M.J., Ridgway A.A.
Ophthalmology 106:964-970(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDL HIS-622 AND ARG-626.
[18]"Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan."
Mashima Y., Yamamoto S., Inoue Y., Yamada M., Konishi M., Watanabe H., Maeda N., Shimomura Y., Kinoshita S.
Am. J. Ophthalmol. 130:516-517(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; LEU-124; THR-501; ARG-527; SER-544; GLN-555 AND TRP-555.
[19]"A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and deltaT125-deltaE126."
Dighiero P., Drunat S., D'Hermies F., Renard G., Delpech M., Valleix S.
Arch. Ophthalmol. 118:814-818(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CORNEAL DYSTROPHIES LEU-124 AND 125-THR-GLU-126 DEL.
[20]"Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene."
Hirano K., Hotta Y., Fujiki K., Kanai A.
Br. J. Ophthalmol. 84:583-585(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDL1 PRO-518.
[21]"Late-onset form of lattice corneal dystrophy caused by Leu527Arg mutation of the TGFBI gene."
Hirano K., Hotta Y., Nakamura M., Fujiki K., Kanai A., Yamamoto N.
Cornea 20:525-529(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDL1 ARG-527.
[22]"Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene."
Dighiero P., Niel F., Ellies P., D'Hermies F., Savoldelli M., Renard G., Delpech M., Valleix S.
Ophthalmology 108:818-823(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; LEU-124; 125-THR-GLU-126 DEL; THR-546; GLN-555; TRP-555 AND ARG-626.
[23]"BIGH3 mutation spectrum in corneal dystrophies."
Munier F.L., Frueh B.E., Othenin-Girard P., Uffer S., Cousin P., Wang M.X., Heon E., Black G.C.M., Blasi M.A., Balestrazzi E., Lorenz B., Escoto R., Barraquer R., Hoeltzenbein M., Gloor B., Fossarello M., Singh A.D., Arsenijevic Y., Zografos L., Schorderet D.F.
Invest. Ophthalmol. Vis. Sci. 43:949-954(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; SER-124; ARG-518; ARG-538; PHE-540 DEL; TRP-555; LYS-622; ASP-623; ARG-626; PRO-626 AND ASP-631.
[24]"A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I."
Warren J.F., Abbott R.L., Yoon M.K., Crawford J.B., Spencer W.H., Margolis T.P.
Am. J. Ophthalmol. 136:872-878(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDL1 ARG-569.
[25]"A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy."
Ha N.T., Cung le X., Chau H.M., Thanh T.K., Fujiki K., Murakami A., Kanai A.
Jpn. J. Ophthalmol. 47:246-248(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GRANULAR CORNEAL DYSTROPHY HIS-123.
[26]"Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene."
Aldave A.J., Gutmark J.G., Yellore V.S., Affeldt J.A., Meallet M.A., Udar N., Rao N.A., Small K.W., Klintworth G.K.
Am. J. Ophthalmol. 138:772-781(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDL1 ASP-546 AND GLN-551.
[27]"TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients."
Chakravarthi S.V.V.K., Kannabiran C., Sridhar M.S., Vemuganti G.K.
Invest. Ophthalmol. Vis. Sci. 46:121-125(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDL1 CYS-124 AND ARG-626, VARIANT CDRB LEU-124, VARIANT CDGG1 TRP-555, VARIANTS LATTICE CORNEAL DYSTROPHY ASP-539; VAL-594 AND 624-VAL-VAL-625 DEL, VARIANT PHE-269.
[28]"Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin."
Stix B., Leber M., Bingemer P., Gross C., Rueschoff J., Faendrich M., Schorderet D.F., Vorwerk C.K., Zacharias M., Roessner A., Roecken C.
Invest. Ophthalmol. Vis. Sci. 46:1133-1139(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDL3A SER-540.
[29]"Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I."
Tian X., Fujiki K., Wang W., Murakami A., Xie P., Kanai A., Liu Z.
Jpn. J. Ophthalmol. 49:84-88(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDL1 ASP-505.
[30]"A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3."
Boutboul S., Black G.C.M., Moore J.E., Sinton J., Menasche M., Munier F.L., Laroche L., Abitbol M., Schorderet D.F.
Hum. Mutat. 27:553-557(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EBMD ARG-509 AND SER-666.
[31]"A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I."
Atchaneeyasakul L.-O., Appukuttan B., Pingsuthiwong S., Yenchitsomanus P.-T., Trinavarat A., Srisawat C.
Jpn. J. Ophthalmol. 50:403-408(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDL1 ARG-572.
[32]"Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene."
Aldave A.J., Rayner S.A., Kim B.T., Prechanond A., Yellore V.S.
Mol. Vis. 12:142-146(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDL1 HIS-572 DEL.
[33]"Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy."
Zenteno J.C., Ramirez-Miranda A., Santacruz-Valdes C., Suarez-Sanchez R.
Mol. Vis. 12:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GRANULAR CORNEAL DYSTROPHY ILE-113.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M77349 mRNA. Translation: AAA61163.1.
AF035626 Genomic DNA. Translation: AAB88695.1.
AF035627 Genomic DNA. Translation: AAB88698.1.
AF035628 Genomic DNA. Translation: AAB88696.1.
AF035629 Genomic DNA. Translation: AAB88697.1.
AY149344 Genomic DNA. Translation: AAN10294.1.
BT009820 mRNA. Translation: AAP88822.1.
AC004503 Genomic DNA. Translation: AAC08449.1.
AC005219 Genomic DNA. Translation: AAC24944.1.
CH471062 Genomic DNA. Translation: EAW62199.1.
CH471062 Genomic DNA. Translation: EAW62200.1.
BC000097 mRNA. Translation: AAH00097.1.
BC004972 mRNA. Translation: AAH04972.1.
PIRI52996.
RefSeqNP_000349.1. NM_000358.2.
UniGeneHs.369397.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1X3BNMR-A502-634[»]
2LTBNMR-A502-634[»]
2LTCNMR-A502-634[»]
2VXPX-ray2.50A/B502-633[»]
ProteinModelPortalQ15582.
SMRQ15582. Positions 105-236, 252-498, 502-634.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112903. 1 interaction.
MINTMINT-122359.
STRING9606.ENSP00000416330.

PTM databases

PhosphoSiteQ15582.

Polymorphism databases

DMDM2498193.

Proteomic databases

PaxDbQ15582.
PeptideAtlasQ15582.
PRIDEQ15582.

Protocols and materials databases

DNASU7045.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000442011; ENSP00000416330; ENSG00000120708.
GeneID7045.
KEGGhsa:7045.
UCSCuc003lbf.4. human.

Organism-specific databases

CTD7045.
GeneCardsGC05P135392.
HGNCHGNC:11771. TGFBI.
HPAHPA008612.
HPA017019.
MIM121820. phenotype.
121900. phenotype.
122200. phenotype.
601692. gene.
602082. phenotype.
607541. phenotype.
608470. phenotype.
608471. phenotype.
neXtProtNX_Q15582.
Orphanet98962. Granular corneal dystrophy type I.
98963. Granular corneal dystrophy type II.
98964. Lattice corneal dystrophy type I.
98956. Microcystic corneal dystrophy.
98961. Reis-Bucklers corneal dystrophy.
98960. Thiel-Behnke corneal dystrophy.
PharmGKBPA36484.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2335.
HOVERGENHBG000715.
InParanoidQ15582.
OMAQFTLLAP.
OrthoDBEOG7N8ZV1.
PhylomeDBQ15582.
TreeFamTF316269.

Enzyme and pathway databases

ReactomeREACT_116125. Disease.

Gene expression databases

ArrayExpressQ15582.
BgeeQ15582.
CleanExHS_TGFBI.
GenevestigatorQ15582.

Family and domain databases

Gene3D2.30.180.10. 4 hits.
InterProIPR011489. EMI_domain.
IPR000782. FAS1_domain.
IPR016666. TGFb-ind_bIGH3/osteoblast_fac2.
[Graphical view]
PfamPF02469. Fasciclin. 4 hits.
[Graphical view]
PIRSFPIRSF016553. BIGH3_OSF2. 1 hit.
SMARTSM00554. FAS1. 4 hits.
[Graphical view]
SUPFAMSSF82153. SSF82153. 4 hits.
PROSITEPS51041. EMI. 1 hit.
PS50213. FAS1. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTGFBI. human.
EvolutionaryTraceQ15582.
GeneWikiTGFBI.
GenomeRNAi7045.
NextBio27529.
PROQ15582.
SOURCESearch...

Entry information

Entry nameBGH3_HUMAN
AccessionPrimary (citable) accession number: Q15582
Secondary accession number(s): D3DQB1 expand/collapse secondary AC list , O14471, O14472, O14476, O43216, O43217, O43218, O43219, Q53XM1
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: April 16, 2014
This is version 151 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM