Q15582 (BGH3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	683 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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	Secreted › extracellular space › extracellular 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 process	Cell adhesion Sensory transduction Vision
Cellular component	Amyloid Extracellular matrix Secreted
Coding sequence diversity	Polymorphism
Disease	Amyloidosis Corneal dystrophy Disease mutation
Domain	Repeat Signal
PTM	Disulfide bond Gamma-carboxyglutamic acid
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	angiogenesis 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 extracellular matrix organization Inferred from electronic annotation. Source: Compara 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_component	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 proteinaceous extracellular matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	extracellular matrix binding Inferred from electronic annotation. Source: Compara integrin binding Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 23

23

By similarity

Chain

24 – 683

660

Transforming growth factor-beta-induced protein ig-h3

PRO_0000008769

Regions

Domain

45 – 99

55

EMI

Domain

103 – 236

134

FAS1 1

Domain

240 – 371

132

FAS1 2

Domain

375 – 498

124

FAS1 3

Domain

502 – 632

131

FAS1 4

Motif

642 – 644

3

Cell attachment site Potential

Amino acid modifications

Modified residue

108

1

4-carboxyglutamate Potential

Modified residue

126

1

4-carboxyglutamate Potential

Modified residue

131

1

4-carboxyglutamate Potential

Modified residue

133

1

4-carboxyglutamate Potential

Modified residue

146

1

4-carboxyglutamate Potential

Modified residue

154

1

4-carboxyglutamate Potential

Modified residue

166

1

4-carboxyglutamate Potential

Modified residue

184

1

4-carboxyglutamate Potential

Modified residue

248

1

4-carboxyglutamate Potential

Modified residue

250

1

4-carboxyglutamate Potential

Modified residue

254

1

4-carboxyglutamate Potential

Modified residue

270

1

4-carboxyglutamate Potential

Modified residue

283

1

4-carboxyglutamate Potential

Modified residue

286

1

4-carboxyglutamate Potential

Modified residue

291

1

4-carboxyglutamate Potential

Modified residue

301

1

4-carboxyglutamate Potential

Modified residue

319

1

4-carboxyglutamate Potential

Modified residue

328

1

4-carboxyglutamate Potential

Modified residue

331

1

4-carboxyglutamate Potential

Modified residue

336

1

4-carboxyglutamate Potential

Modified residue

529

1

4-carboxyglutamate Potential

Modified residue

534

1

4-carboxyglutamate Potential

Modified residue

545

1

4-carboxyglutamate Potential

Modified residue

554

1

4-carboxyglutamate Potential

Modified residue

564

1

4-carboxyglutamate Potential

Modified residue

576

1

4-carboxyglutamate Potential

Modified residue

598

1

4-carboxyglutamate Potential

Modified residue

611

1

4-carboxyglutamate Potential

Modified residue

615

1

4-carboxyglutamate Potential

Disulfide bond

49 ↔ 85

By similarity

Disulfide bond

65 ↔ 74

By similarity

Disulfide bond

84 ↔ 97

By similarity

Natural variations

Natural variant

113

1

V → I in granular corneal dystrophy; unclassified form; with centrifuge pattern of opacities. Ref.33

VAR_031531

Natural variant

123

1

D → H in granular corneal dystrophy; unclassified form; Hanoi. Ref.25

VAR_031532

Natural variant

124

1

R → C in CDL1. Ref.2 Ref.11 Ref.18 Ref.22 Ref.23 Ref.27

VAR_005076

Natural variant

124

1

R → H in CDA; most common mutation in Japanese. Ref.2 Ref.11 Ref.16 Ref.18 Ref.22 Ref.23

VAR_005077

Natural variant

124

1

R → L in CDRB. Ref.13 Ref.18 Ref.19 Ref.22 Ref.27

VAR_005078

Natural variant

124

1

R → S in CDGG1; late-onset; mild ocular irritation and reduction in visual acuity. Ref.16 Ref.23

VAR_012444

Natural variant

125 – 126

2

Missing Associated with Leu-124 in atypical granular dystrophy; French granular variant.

VAR_012445

Natural variant

200

1

I → F. Ref.3
Corresponds to variant rs45455404 [ dbSNP | Ensembl ].

VAR_014335

Natural variant

269

1

L → F. Ref.27

VAR_031533

Natural variant

496

1

R → G.
Corresponds to variant rs10057190 [ dbSNP | Ensembl ].

VAR_031534

Natural variant

501

1

P → T in CDL3A. Ref.12 Ref.18

VAR_005079

Natural variant

505

1

V → D in CDL1. Ref.29

VAR_031535

Natural variant

509

1

L → R in EBMD. Ref.30

VAR_031536

Natural variant

518

1

L → P in CDL1. Ref.20

VAR_012446

Natural variant

518

1

L → R in CDL1; severe phenotype; delayed age of onset. Ref.23

VAR_018484

Natural variant

527

1

L → R in CDL1; late-onset; found also in sporadic cases. Ref.14 Ref.18 Ref.21

VAR_005080

Natural variant

538

1

T → R in CDL1; delayed age of onset. Ref.23

VAR_018485

Natural variant

539

1

V → D in lattice corneal dystrophy; unclassified form. Ref.27

VAR_031537

Natural variant

540

1

F → S in CDL3A. Ref.28

VAR_031538

Natural variant

540

1

Missing in CDRB. Ref.15 Ref.23

VAR_005081

Natural variant

544

1

N → S in CDL; late-onset. Ref.18

VAR_012447

Natural variant

546

1

A → D in CDL1; associated with Q-551. Ref.26

VAR_031539

Natural variant

546

1

A → T in CDL3A. Ref.22

VAR_012448

Natural variant

551

1

P → Q in CDL1; associated with D-546. Ref.26

VAR_031540

Natural variant

555

1

R → Q in CDTB; originally thought to cause CDRB. Ref.2 Ref.11 Ref.18 Ref.22

VAR_005082

Natural variant

555

1

R → 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 variant

569

1

L → R in CDL1. Ref.24

VAR_031541

Natural variant

572

1

H → R in CDL1; late-onset. Ref.31

VAR_031543

Natural variant

572

1

Missing in CDL1; late-onset and unilateral phenotype. Ref.32

VAR_031542

Natural variant

594

1

G → V in lattice corneal dystrophy; unclassified form. Ref.27

VAR_031544

Natural variant

622

1

N → H in asymmetric lattice corneal dystrophy. Ref.17

VAR_012449

Natural variant

622

1

N → K in CDL3A. Ref.23

VAR_018486

Natural variant

623

1

G → D in CDL1; delayed age of onset. Ref.23

VAR_018487

Natural variant

624 – 625

2

Missing in lattice corneal dystrophy; unclassified form.

VAR_031545

Natural variant

626

1

H → P in CDL1. Ref.23

VAR_018488

Natural variant

626

1

H → R in CDL1; delayed age of onset. Ref.17 Ref.22 Ref.23 Ref.27

VAR_012450

Natural variant

631

1

V → D in CDL. Ref.23

VAR_018489

Natural variant

666

1

R → S in EBMD; low penetrance in one family. Ref.30

VAR_031546

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

683

Helix Strand Turn

Details...

Helix

505 – 509

5

Helix

516 – 525

10

Helix

528 – 532

5

Beta strand

533 – 535

3

Beta strand

537 – 542

6

Helix

544 – 549

6

Helix

552 – 559

8

Helix

562 – 571

10

Beta strand

572 – 576

5

Beta strand

587 – 591

5

Beta strand

594 – 602

9

Beta strand

605 – 610

6

Beta strand

614 – 620

7

Beta strand

623 – 630

8

Sequences

	Sequence		Length	Mass (Da)
	Q15582 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: 40FDC8A71EBB3D00	FASTA	683	74,681
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.

Web resources

GeneReviews

NIEHS-SNPs

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.

IPI

IPI00018219.

PIR

I52996.

RefSeq

NP_000349.1. NM_000358.2.

UniGene

Hs.369397.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1X3B	NMR	-	A	502-634	[»]
2VXP	X-ray	2.50	A/B	502-633	[»]

ProteinModelPortal

Q15582.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000416330.

PTM databases

PhosphoSite

Q15582.

Polymorphism databases

DMDM

2498193.

Proteomic databases

PaxDb

Q15582.

PeptideAtlas

Q15582.

PRIDE

Q15582.

Protocols and materials databases

DNASU

7045.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000442011; ENSP00000416330; ENSG00000120708.

GeneID

7045.

KEGG

hsa:7045.

UCSC

uc003lbf.4. human.

Organism-specific databases

CTD

7045.

GeneCards

GC05P135392.

HGNC

HGNC:11771. TGFBI.

HPA

HPA008612.
HPA017019.

MIM

121820. phenotype.
121900. phenotype.
122200. phenotype.
601692. gene.
602082. phenotype.
607541. phenotype.
608470. phenotype.
608471. phenotype.

neXtProt

NX_Q15582.

Orphanet

98962. 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.

PharmGKB

PA36484.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG2335.

HOVERGEN

HBG000715.

InParanoid

Q15582.

OMA

QFTLLAP.

OrthoDB

EOG4SN1N8.

Enzyme and pathway databases

Reactome

REACT_116125. Disease.

Gene expression databases

ArrayExpress

Q15582.

Bgee

Q15582.

CleanEx

HS_TGFBI.

Genevestigator

Q15582.

GermOnline

ENSG00000120708. Homo sapiens.

Family and domain databases

Gene3D

2.30.180.10. 4 hits.

InterPro

IPR011489. EMI_domain.
IPR000782. FAS1_domain.
IPR016666. TGFb-ind_bIGH3/osteoblast_fac2.
[Graphical view]

Pfam

PF02469. Fasciclin. 4 hits.
[Graphical view]

PIRSF

PIRSF016553. BIGH3_OSF2. 1 hit.

SMART

SM00554. FAS1. 4 hits.
[Graphical view]

SUPFAM

SSF82153. BIgH3_FAS1. 4 hits.

PROSITE

PS51041. EMI. 1 hit.
PS50213. FAS1. 4 hits.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

TGFBI. human.

EvolutionaryTrace

Q15582.

GenomeRNAi

7045.

NextBio

27529.

SOURCE

Search...

Entry information

Entry name

BGH3_HUMAN

Accession

Primary (citable) accession number: Q15582
Secondary accession number(s): D3DQB1 , 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:	May 1, 2013
This is version 142 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.