Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q15582

- BGH3_HUMAN

UniProt

Q15582 - BGH3_HUMAN

Protein

Transforming growth factor-beta-induced protein ig-h3

Gene

TGFBI

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 156 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.9 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 2323By similarityAdd
    BLAST
    Chaini24 – 683660Transforming growth factor-beta-induced protein ig-h3PRO_0000008769Add
    BLAST

    Amino acid modifications

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

    Post-translational modificationi

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

    1
    683
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ15582.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini45 – 9955EMIPROSITE-ProRule annotationAdd
    BLAST
    Domaini103 – 236134FAS1 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini240 – 371132FAS1 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini375 – 498124FAS1 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini502 – 632131FAS1 4PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi642 – 6443Cell attachment siteSequence Analysis

    Sequence similaritiesi

    Contains 1 EMI domain.PROSITE-ProRule annotation
    Contains 4 FAS1 domains.PROSITE-ProRule annotation

    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 ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 156 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