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Q15582

- BGH3_HUMAN

UniProt

Q15582 - BGH3_HUMAN

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Protein
Transforming growth factor-beta-induced protein ig-h3
Gene
TGFBI, BIGH3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. collagen binding Source: BHF-UCL
  2. extracellular matrix binding Source: Ensembl
  3. integrin binding Source: ProtInc
  4. protein binding Source: BHF-UCL

GO - Biological processi

  1. angiogenesis Source: UniProtKB
  2. cell adhesion Source: UniProtKB-KW
  3. cell proliferation Source: ProtInc
  4. chondrocyte differentiation Source: Ensembl
  5. extracellular matrix organization Source: Ensembl
  6. negative regulation of cell adhesion Source: ProtInc
  7. response to stimulus Source: UniProtKB-KW
  8. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cell adhesion, Sensory transduction, Vision

Enzyme and pathway databases

ReactomeiREACT_75925. Amyloids.

Names & Taxonomyi

Protein namesi
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 namesi
Name:TGFBI
Synonyms:BIGH3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:11771. TGFBI.

Subcellular locationi

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

GO - Cellular componenti

  1. basement membrane Source: Ensembl
  2. extracellular region Source: Reactome
  3. extracellular space Source: BHF-UCL
  4. extracellular vesicular exosome Source: UniProtKB
  5. plasma membrane Source: Reactome
  6. trans-Golgi network Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Amyloid, Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti509 – 5091L → R in EBMD. 1 Publication
VAR_031536
Natural varianti666 – 6661R → S in EBMD; low penetrance in one family. 1 Publication
Corresponds to variant rs121909217 [ dbSNP | Ensembl ].
VAR_031546
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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti124 – 1241R → S in CDGG1; late-onset; mild ocular irritation and reduction in visual acuity. 2 Publications
VAR_012444
Natural varianti555 – 5551R → W in CDGG1; common mutation in Europe and United States; rare in Japan. 7 Publications
VAR_005083
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.9 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti124 – 1241R → C in CDL1. 6 Publications
VAR_005076
Natural varianti505 – 5051V → D in CDL1. 1 Publication
VAR_031535
Natural varianti518 – 5181L → P in CDL1. 1 Publication
VAR_012446
Natural varianti518 – 5181L → R in CDL1; severe phenotype; delayed age of onset. 1 Publication
VAR_018484
Natural varianti527 – 5271L → R in CDL1; late-onset; found also in sporadic cases. 3 Publications
VAR_005080
Natural varianti538 – 5381T → R in CDL1; delayed age of onset. 1 Publication
VAR_018485
Natural varianti546 – 5461A → D in CDL1; associated with Q-551. 1 Publication
VAR_031539
Natural varianti551 – 5511P → Q in CDL1; associated with D-546. 1 Publication
VAR_031540
Natural varianti569 – 5691L → R in CDL1. 1 Publication
VAR_031541
Natural varianti572 – 5721H → R in CDL1; late-onset. 1 Publication
VAR_031543
Natural varianti572 – 5721Missing in CDL1; late-onset and unilateral phenotype. 1 Publication
VAR_031542
Natural varianti623 – 6231G → D in CDL1; delayed age of onset. 1 Publication
VAR_018487
Natural varianti626 – 6261H → P in CDL1. 1 Publication
VAR_018488
Natural varianti626 – 6261H → R in CDL1; delayed age of onset. 4 Publications
VAR_012450
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.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti555 – 5551R → Q in CDTB; originally thought to cause CDRB. 4 Publications
VAR_005082
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.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti124 – 1241R → L in CDRB. 5 Publications
VAR_005078
Natural varianti540 – 5401Missing in CDRB. 2 Publications
VAR_005081
Natural varianti555 – 5551R → Q in CDTB; originally thought to cause CDRB. 4 Publications
VAR_005082
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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti501 – 5011P → T in CDL3A. 2 Publications
Corresponds to variant rs121909212 [ dbSNP | Ensembl ].
VAR_005079
Natural varianti540 – 5401F → S in CDL3A. 1 Publication
VAR_031538
Natural varianti546 – 5461A → T in CDL3A. 1 Publication
VAR_012448
Natural varianti622 – 6221N → K in CDL3A. 1 Publication
VAR_018486
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.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti124 – 1241R → H in CDA; most common mutation in Japanese. 6 Publications
VAR_005077

Keywords - Diseasei

Amyloidosis, Corneal dystrophy, Disease mutation

Organism-specific databases

MIMi121820. phenotype.
121900. phenotype.
122200. phenotype.
602082. phenotype.
607541. phenotype.
608470. phenotype.
608471. phenotype.
Orphaneti98962. 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.
PharmGKBiPA36484.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323 By similarity
Add
BLAST
Chaini24 – 683660Transforming growth factor-beta-induced protein ig-h3
PRO_0000008769Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi49 ↔ 85 By similarity
Disulfide bondi65 ↔ 74 By similarity
Disulfide bondi84 ↔ 97 By similarity
Modified residuei108 – 10814-carboxyglutamate Reviewed prediction
Modified residuei126 – 12614-carboxyglutamate Reviewed prediction
Modified residuei131 – 13114-carboxyglutamate Reviewed prediction
Modified residuei133 – 13314-carboxyglutamate Reviewed prediction
Modified residuei146 – 14614-carboxyglutamate Reviewed prediction
Modified residuei154 – 15414-carboxyglutamate Reviewed prediction
Modified residuei166 – 16614-carboxyglutamate Reviewed prediction
Modified residuei184 – 18414-carboxyglutamate Reviewed prediction
Modified residuei248 – 24814-carboxyglutamate Reviewed prediction
Modified residuei250 – 25014-carboxyglutamate Reviewed prediction
Modified residuei254 – 25414-carboxyglutamate Reviewed prediction
Modified residuei270 – 27014-carboxyglutamate Reviewed prediction
Modified residuei283 – 28314-carboxyglutamate Reviewed prediction
Modified residuei286 – 28614-carboxyglutamate Reviewed prediction
Modified residuei291 – 29114-carboxyglutamate Reviewed prediction
Modified residuei301 – 30114-carboxyglutamate Reviewed prediction
Modified residuei319 – 31914-carboxyglutamate Reviewed prediction
Modified residuei328 – 32814-carboxyglutamate Reviewed prediction
Modified residuei331 – 33114-carboxyglutamate Reviewed prediction
Modified residuei336 – 33614-carboxyglutamate Reviewed prediction
Modified residuei529 – 52914-carboxyglutamate Reviewed prediction
Modified residuei534 – 53414-carboxyglutamate Reviewed prediction
Modified residuei545 – 54514-carboxyglutamate Reviewed prediction
Modified residuei554 – 55414-carboxyglutamate Reviewed prediction
Modified residuei564 – 56414-carboxyglutamate Reviewed prediction
Modified residuei576 – 57614-carboxyglutamate Reviewed prediction
Modified residuei598 – 59814-carboxyglutamate Reviewed prediction
Modified residuei611 – 61114-carboxyglutamate Reviewed prediction
Modified residuei615 – 61514-carboxyglutamate Reviewed prediction

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Gamma-carboxyglutamic acid

Proteomic databases

MaxQBiQ15582.
PaxDbiQ15582.
PeptideAtlasiQ15582.
PRIDEiQ15582.

PTM databases

PhosphoSiteiQ15582.

Expressioni

Tissue specificityi

Highly expressed in the corneal epithelium.1 Publication

Inductioni

By TGFB1.

Gene expression databases

ArrayExpressiQ15582.
BgeeiQ15582.
CleanExiHS_TGFBI.
GenevestigatoriQ15582.

Organism-specific databases

HPAiHPA008612.
HPA017019.

Interactioni

Protein-protein interaction databases

BioGridi112903. 1 interaction.
MINTiMINT-122359.
STRINGi9606.ENSP00000416330.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi505 – 5095
Beta strandi512 – 5154
Helixi516 – 52510
Helixi528 – 5325
Beta strandi533 – 5353
Beta strandi537 – 5426
Helixi544 – 5496
Helixi552 – 5598
Helixi562 – 57110
Beta strandi572 – 5765
Helixi580 – 5834
Beta strandi587 – 5915
Beta strandi594 – 6029
Beta strandi605 – 6106
Beta strandi614 – 6207
Beta strandi623 – 6308

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1X3BNMR-A502-634[»]
2LTBNMR-A502-634[»]
2LTCNMR-A502-634[»]
2VXPX-ray2.50A/B502-633[»]
ProteinModelPortaliQ15582.
SMRiQ15582. Positions 105-236, 252-415, 502-634.

Miscellaneous databases

EvolutionaryTraceiQ15582.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini45 – 9955EMI
Add
BLAST
Domaini103 – 236134FAS1 1
Add
BLAST
Domaini240 – 371132FAS1 2
Add
BLAST
Domaini375 – 498124FAS1 3
Add
BLAST
Domaini502 – 632131FAS1 4
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi642 – 6443Cell attachment site Reviewed prediction

Sequence similaritiesi

Contains 1 EMI domain.
Contains 4 FAS1 domains.

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiCOG2335.
HOVERGENiHBG000715.
InParanoidiQ15582.
OMAiQFTLLAP.
OrthoDBiEOG7N8ZV1.
PhylomeDBiQ15582.
TreeFamiTF316269.

Family and domain databases

Gene3Di2.30.180.10. 4 hits.
InterProiIPR011489. EMI_domain.
IPR000782. FAS1_domain.
IPR016666. TGFb-ind_bIGH3/osteoblast_fac2.
[Graphical view]
PfamiPF02469. Fasciclin. 4 hits.
[Graphical view]
PIRSFiPIRSF016553. BIGH3_OSF2. 1 hit.
SMARTiSM00554. FAS1. 4 hits.
[Graphical view]
SUPFAMiSSF82153. SSF82153. 4 hits.
PROSITEiPS51041. EMI. 1 hit.
PS50213. FAS1. 4 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q15582-1 [UniParc]FASTAAdd to Basket

« Hide

MALFVRLLAL ALALALGPAA TLAGPAKSPY QLVLQHSRLR GRQHGPNVCA    50
VQKVIGTNRK YFTNCKQWYQ RKICGKSTVI SYECCPGYEK VPGEKGCPAA 100
LPLSNLYETL GVVGSTTTQL YTDRTEKLRP EMEGPGSFTI FAPSNEAWAS 150
LPAEVLDSLV SNVNIELLNA LRYHMVGRRV LTDELKHGMT LTSMYQNSNI 200
QIHHYPNGIV TVNCARLLKA DHHATNGVVH LIDKVISTIT NNIQQIIEIE 250
DTFETLRAAV AASGLNTMLE GNGQYTLLAP TNEAFEKIPS ETLNRILGDP 300
EALRDLLNNH ILKSAMCAEA IVAGLSVETL EGTTLEVGCS GDMLTINGKA 350
IISNKDILAT NGVIHYIDEL LIPDSAKTLF ELAAESDVST AIDLFRQAGL 400
GNHLSGSERL TLLAPLNSVF KDGTPPIDAH TRNLLRNHII KDQLASKYLY 450
HGQTLETLGG KKLRVFVYRN SLCIENSCIA AHDKRGRYGT LFTMDRVLTP 500
PMGTVMDVLK GDNRFSMLVA AIQSAGLTET LNREGVYTVF APTNEAFRAL 550
PPRERSRLLG DAKELANILK YHIGDEILVS GGIGALVRLK SLQGDKLEVS 600
LKNNVVSVNK EPVAEPDIMA TNGVVHVITN VLQPPANRPQ ERGDELADSA 650
LEIFKQASAF SRASQRSVRL APVYQKLLER MKH 683
Length:683
Mass (Da):74,681
Last modified:November 1, 1996 - v1
Checksum:i40FDC8A71EBB3D00
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti113 – 1131V → I in granular corneal dystrophy; unclassified form; with centrifuge pattern of opacities. 1 Publication
VAR_031531
Natural varianti123 – 1231D → H in granular corneal dystrophy; unclassified form; Hanoi. 1 Publication
VAR_031532
Natural varianti124 – 1241R → C in CDL1. 6 Publications
VAR_005076
Natural varianti124 – 1241R → H in CDA; most common mutation in Japanese. 6 Publications
VAR_005077
Natural varianti124 – 1241R → L in CDRB. 5 Publications
VAR_005078
Natural varianti124 – 1241R → S in CDGG1; late-onset; mild ocular irritation and reduction in visual acuity. 2 Publications
VAR_012444
Natural varianti125 – 1262Missing Associated with Leu-124 in atypical granular dystrophy; French granular variant.
VAR_012445
Natural varianti200 – 2001I → F.1 Publication
Corresponds to variant rs45455404 [ dbSNP | Ensembl ].
VAR_014335
Natural varianti269 – 2691L → F.1 Publication
VAR_031533
Natural varianti496 – 4961R → G.
Corresponds to variant rs10057190 [ dbSNP | Ensembl ].
VAR_031534
Natural varianti501 – 5011P → T in CDL3A. 2 Publications
Corresponds to variant rs121909212 [ dbSNP | Ensembl ].
VAR_005079
Natural varianti505 – 5051V → D in CDL1. 1 Publication
VAR_031535
Natural varianti509 – 5091L → R in EBMD. 1 Publication
VAR_031536
Natural varianti518 – 5181L → P in CDL1. 1 Publication
VAR_012446
Natural varianti518 – 5181L → R in CDL1; severe phenotype; delayed age of onset. 1 Publication
VAR_018484
Natural varianti527 – 5271L → R in CDL1; late-onset; found also in sporadic cases. 3 Publications
VAR_005080
Natural varianti538 – 5381T → R in CDL1; delayed age of onset. 1 Publication
VAR_018485
Natural varianti539 – 5391V → D in lattice corneal dystrophy; unclassified form. 1 Publication
VAR_031537
Natural varianti540 – 5401F → S in CDL3A. 1 Publication
VAR_031538
Natural varianti540 – 5401Missing in CDRB. 2 Publications
VAR_005081
Natural varianti544 – 5441N → S in CDL; late-onset. 1 Publication
VAR_012447
Natural varianti546 – 5461A → D in CDL1; associated with Q-551. 1 Publication
VAR_031539
Natural varianti546 – 5461A → T in CDL3A. 1 Publication
VAR_012448
Natural varianti551 – 5511P → Q in CDL1; associated with D-546. 1 Publication
VAR_031540
Natural varianti555 – 5551R → Q in CDTB; originally thought to cause CDRB. 4 Publications
VAR_005082
Natural varianti555 – 5551R → W in CDGG1; common mutation in Europe and United States; rare in Japan. 7 Publications
VAR_005083
Natural varianti569 – 5691L → R in CDL1. 1 Publication
VAR_031541
Natural varianti572 – 5721H → R in CDL1; late-onset. 1 Publication
VAR_031543
Natural varianti572 – 5721Missing in CDL1; late-onset and unilateral phenotype. 1 Publication
VAR_031542
Natural varianti594 – 5941G → V in lattice corneal dystrophy; unclassified form. 1 Publication
VAR_031544
Natural varianti622 – 6221N → H in asymmetric lattice corneal dystrophy. 1 Publication
VAR_012449
Natural varianti622 – 6221N → K in CDL3A. 1 Publication
VAR_018486
Natural varianti623 – 6231G → D in CDL1; delayed age of onset. 1 Publication
VAR_018487
Natural varianti624 – 6252Missing in lattice corneal dystrophy; unclassified form.
VAR_031545
Natural varianti626 – 6261H → P in CDL1. 1 Publication
VAR_018488
Natural varianti626 – 6261H → R in CDL1; delayed age of onset. 4 Publications
VAR_012450
Natural varianti631 – 6311V → D in CDL. 1 Publication
VAR_018489
Natural varianti666 – 6661R → S in EBMD; low penetrance in one family. 1 Publication
Corresponds to variant rs121909217 [ dbSNP | Ensembl ].
VAR_031546

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS47266.1.
PIRiI52996.
RefSeqiNP_000349.1. NM_000358.2.
UniGeneiHs.369397.

Genome annotation databases

EnsembliENST00000442011; ENSP00000416330; ENSG00000120708.
GeneIDi7045.
KEGGihsa:7045.
UCSCiuc003lbf.4. human.

Polymorphism databases

DMDMi2498193.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs
Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS47266.1.
PIRi I52996.
RefSeqi NP_000349.1. NM_000358.2.
UniGenei Hs.369397.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1X3B NMR - A 502-634 [» ]
2LTB NMR - A 502-634 [» ]
2LTC NMR - A 502-634 [» ]
2VXP X-ray 2.50 A/B 502-633 [» ]
ProteinModelPortali Q15582.
SMRi Q15582. Positions 105-236, 252-415, 502-634.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112903. 1 interaction.
MINTi MINT-122359.
STRINGi 9606.ENSP00000416330.

PTM databases

PhosphoSitei Q15582.

Polymorphism databases

DMDMi 2498193.

Proteomic databases

MaxQBi Q15582.
PaxDbi Q15582.
PeptideAtlasi Q15582.
PRIDEi Q15582.

Protocols and materials databases

DNASUi 7045.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000442011 ; ENSP00000416330 ; ENSG00000120708 .
GeneIDi 7045.
KEGGi hsa:7045.
UCSCi uc003lbf.4. human.

Organism-specific databases

CTDi 7045.
GeneCardsi GC05P135392.
HGNCi HGNC:11771. TGFBI.
HPAi HPA008612.
HPA017019.
MIMi 121820. phenotype.
121900. phenotype.
122200. phenotype.
601692. gene.
602082. phenotype.
607541. phenotype.
608470. phenotype.
608471. phenotype.
neXtProti NX_Q15582.
Orphaneti 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.
PharmGKBi PA36484.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2335.
HOVERGENi HBG000715.
InParanoidi Q15582.
OMAi QFTLLAP.
OrthoDBi EOG7N8ZV1.
PhylomeDBi Q15582.
TreeFami TF316269.

Enzyme and pathway databases

Reactomei REACT_75925. Amyloids.

Miscellaneous databases

ChiTaRSi TGFBI. human.
EvolutionaryTracei Q15582.
GeneWikii TGFBI.
GenomeRNAii 7045.
NextBioi 27529.
PROi Q15582.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q15582.
Bgeei Q15582.
CleanExi HS_TGFBI.
Genevestigatori Q15582.

Family and domain databases

Gene3Di 2.30.180.10. 4 hits.
InterProi IPR011489. EMI_domain.
IPR000782. FAS1_domain.
IPR016666. TGFb-ind_bIGH3/osteoblast_fac2.
[Graphical view ]
Pfami PF02469. Fasciclin. 4 hits.
[Graphical view ]
PIRSFi PIRSF016553. BIGH3_OSF2. 1 hit.
SMARTi SM00554. FAS1. 4 hits.
[Graphical view ]
SUPFAMi SSF82153. SSF82153. 4 hits.
PROSITEi PS51041. EMI. 1 hit.
PS50213. FAS1. 4 hits.
[Graphical view ]
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Publicationsi

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  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. 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. 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. Cited for: VARIANTS CORNEAL DYSTROPHIES CYS-124; HIS-124; GLN-555 AND TRP-555.
  12. Cited for: VARIANT CDL3A THR-501.
  13. 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. 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.

Entry informationi

Entry nameiBGH3_HUMAN
AccessioniPrimary (citable) accession number: Q15582
Secondary accession number(s): D3DQB1
, O14471, O14472, O14476, O43216, O43217, O43218, O43219, Q53XM1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: September 3, 2014
This is version 155 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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