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)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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	Defects in TGFBI are the cause of epithelial basement membrane corneal dystrophy (EBMD) [MIM:121820]; also known as Cogan corneal dystrophy or map-dot-fingerprint type corneal dystrophy. EBMD is 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. Although this disorder usually is not considered to be inherited, families with autosomal dominant inheritance have been identified. Ref.30 Defects in TGFBI are the cause of corneal dystrophy Groenouw type 1 (CDGG1) [MIM:121900]; also known as corneal dystrophy granular type. Inheritance is autosomal dominant. Corneal dystrophies show progressive opacification of the cornea leading to severe visual handicap. Ref.27 Defects in TGFBI are the cause of corneal dystrophy lattice type 1 (CDL1) [MIM:122200]. Inheritance is autosomal dominant. Defects in TGFBI are a cause of corneal dystrophy Thiel-Behnke type (CDTB) [MIM:602082]; also known as corneal dystrophy of Bowman layer type 2 (CDB2). Defects in TGFBI are the cause of Reis-Buecklers corneal dystrophy (CDRB) [MIM:608470]; also known as corneal dystrophy of Bowman layer type 1 (CDB1). Ref.13 Ref.15 Ref.27 Defects in TGFBI are the cause of lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]. 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. Ref.12 Ref.28 Defects in TGFBI are the cause of Avellino corneal dystrophy (ACD) [MIM:607541]. ACD could be considered a variant of granular dystrophy with a significant amyloidogenic tendency. Inheritance is autosomal dominant.
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	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. Source: UniProtKB cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW cell proliferation Traceable author statement. Source: ProtInc negative regulation of cell adhesion Traceable author statement. Source: ProtInc response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Traceable author statement. Source: ProtInc
Cellular component	extracellular space Traceable author statement. Source: ProtInc plasma membrane Traceable author statement. Source: Reactome
Molecular function	integrin binding Traceable author statement. 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 ACD; 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.

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.

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

.

.

.

.

.

.

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683

Helix Strand Turn

Details...

Helix

505 – 511

7

Helix

516 – 525

10

Helix

528 – 532

5

Beta strand

533 – 535

3

Helix

545 – 549

5

Turn

552 – 554

3

Helix

555 – 560

6

Helix

562 – 572

11

Beta strand

573 – 576

4

Beta strand

587 – 589

3

Beta strand

591 – 595

5

Beta strand

597 – 602

6

Beta strand

605 – 610

6

Beta strand

612 – 619

8

Beta strand

621 – 630

10

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: 1388724] [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: 9054935] [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: 15372022] [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: 15489334] [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: 8077289] [Abstract] Cited for: TISSUE SPECIFICITY.
[9]	"Corneal dystrophies in Japan." Fujiki K., Nakayasu K., Kanai A. J. Hum. Genet. 46:431-435(2001) [PubMed: 11501939] [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: 9463327] [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: 9497262] [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: 9780098] [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: 9799082] [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: 10660331] [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: 10425035] [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: 10328397] [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: 11024425] [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: 10865320] [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: 10837380] [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: 11413411] [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: 11297504] [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: 11923233] [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: 14597039] [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: 12782158] [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: 15531312] [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: 15623763] [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: 15790870] [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: 15838722] [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: 16652336] [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: 17013691] [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: 16541014] [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: 16636649] [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.

SMR

Q15582. Positions 102-239, 242-634.

ModBase

Search...

Protein-protein interaction databases

STRING

Q15582.

Polymorphism databases

DMDM

2498193.

2D gel databases

Cornea-2DPAGE

Q15582.

Proteomic databases

PeptideAtlas

Q15582.

PRIDE

Q15582.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000442011; ENSP00000416330; ENSG00000120708.

GeneID

7045.

KEGG

hsa:7045.

UCSC

uc003lbf.2. human.

Organism-specific databases

CTD

7045.

GeneCards

GC05P135392.

H-InvDB

HIX0005197.

HGNC

HGNC:11771. TGFBI.

HPA

HPA008612.

MIM

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

neXtProt

NX_Q15582.

Orphanet

98963. Corneal dystrophy, Avellino type.
98960. Corneal dystrophy, Thiel-Behnke type.
98956. Microcystic corneal dystrophy.

PharmGKB

PA36484.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG04611.

HOVERGEN

HBG000715.

InParanoid

Q15582.

OMA

TVISYEC.

OrthoDB

EOG4SN1N8.

PhylomeDB

Q15582.

Enzyme and pathway databases

Reactome

REACT_75925. Amyloids.

Gene expression databases

ArrayExpress

Q15582.

Bgee

Q15582.

CleanEx

HS_TGFBI.

Genevestigator

Q15582.

GermOnline

ENSG00000120708. Homo sapiens.

Family and domain databases

InterPro

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

Gene3D

G3DSA:2.30.180.10. BIgH3_FAS1. 4 hits.

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

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:	January 25, 2012
This is version 128 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.