UniProtKB - Q15582 (BGH3_HUMAN)
Protein
Transforming growth factor-beta-induced protein ig-h3
Gene
TGFBI
Organism
Homo sapiens (Human)
Status
Functioni
Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (By similarity).By similarity1 Publication
GO - Molecular functioni
- cell adhesion molecule binding Source: GO_Central
- collagen binding Source: BHF-UCL
- extracellular matrix binding Source: Ensembl
- extracellular matrix structural constituent Source: BHF-UCL
- identical protein binding Source: IntAct
- integrin binding Source: ProtInc
GO - Biological processi
- amyloid fibril formation Source: Reactome
- angiogenesis Source: UniProtKB
- cell adhesion Source: GO_Central
- cell population proliferation Source: ProtInc
- chondrocyte differentiation Source: Ensembl
- extracellular matrix organization Source: GO_Central
- negative regulation of cell adhesion Source: ProtInc
- response to stimulus Source: UniProtKB-KW
- visual perception Source: ProtInc
Keywordsi
Biological process | Cell adhesion, Sensory transduction, Vision |
Enzyme and pathway databases
PathwayCommonsi | Q15582 |
Reactomei | R-HSA-977225, Amyloid fiber formation |
SIGNORi | Q15582 |
Names & Taxonomyi
Protein namesi | Recommended name: Transforming growth factor-beta-induced protein ig-h3Short name: Beta ig-h3 Alternative name(s): Kerato-epithelin RGD-containing collagen-associated protein Short name: RGD-CAP |
Gene namesi | Name:TGFBI Synonyms:BIGH3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11771, TGFBI |
MIMi | 601692, gene |
neXtProti | NX_Q15582 |
VEuPathDBi | HostDB:ENSG00000120708.16 |
Subcellular locationi
Extracellular region or secreted
- Secreted 3 Publications
- extracellular matrix 1 Publication
Note: May be associated both with microfibrils and with the cell surface (PubMed:8077289).1 Publication
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular region Source: BHF-UCL
- extracellular space Source: BHF-UCL
Golgi apparatus
- trans-Golgi network Source: BHF-UCL
Plasma Membrane
- plasma membrane Source: Reactome
Other locations
- basement membrane Source: Ensembl
- collagen-containing extracellular matrix Source: BHF-UCL
- extracellular matrix Source: GO_Central
Keywords - Cellular componenti
Amyloid, Extracellular matrix, SecretedPathology & Biotechi
Involvement in diseasei
Corneal dystrophy, epithelial basement membrane (EBMD)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031536 | 509 | L → R in EBMD. 1 PublicationCorresponds to variant dbSNP:rs121909216EnsemblClinVar. | 1 | |
Natural variantiVAR_031546 | 666 | R → S in EBMD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121909217EnsemblClinVar. | 1 |
Corneal dystrophy, Groenouw type 1 (CDGG1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012444 | 124 | R → S in CDGG1; late-onset; mild ocular irritation and reduction in visual acuity. 2 PublicationsCorresponds to variant dbSNP:rs121909210EnsemblClinVar. | 1 | |
Natural variantiVAR_005083 | 555 | R → W in CDGG1; common mutation in Europe and United States; rare in Japan. 7 PublicationsCorresponds to variant dbSNP:rs121909208EnsemblClinVar. | 1 |
Corneal dystrophy, lattice type 1 (CDL1)9 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077904 | 124 | R → C in CDL1; cysteinylated; no effect on the disulfide bond pattern. 7 PublicationsCorresponds to variant dbSNP:rs121909210EnsemblClinVar. | 1 | |
Natural variantiVAR_031535 | 505 | V → D in CDL1. 1 Publication | 1 | |
Natural variantiVAR_012446 | 518 | L → P in CDL1. 1 Publication | 1 | |
Natural variantiVAR_018484 | 518 | L → R in CDL1; severe phenotype; delayed age of onset. 1 Publication | 1 | |
Natural variantiVAR_005080 | 527 | L → R in CDL1; late-onset; found also in sporadic cases. 3 PublicationsCorresponds to variant dbSNP:rs1050842080Ensembl. | 1 | |
Natural variantiVAR_018485 | 538 | T → R in CDL1; delayed age of onset. 1 Publication | 1 | |
Natural variantiVAR_031539 | 546 | A → D in CDL1; associated with Q-551. 1 PublicationCorresponds to variant dbSNP:rs267607109EnsemblClinVar. | 1 | |
Natural variantiVAR_031540 | 551 | P → Q in CDL1; associated with D-546. 1 PublicationCorresponds to variant dbSNP:rs267607110EnsemblClinVar. | 1 | |
Natural variantiVAR_031541 | 569 | L → R in CDL1. 1 Publication | 1 | |
Natural variantiVAR_031543 | 572 | H → R in CDL1; late-onset. 1 Publication | 1 | |
Natural variantiVAR_031542 | 572 | Missing in CDL1; late-onset and unilateral phenotype. 1 Publication | 1 | |
Natural variantiVAR_018487 | 623 | G → D in CDL1; delayed age of onset. 1 PublicationCorresponds to variant dbSNP:rs121909215EnsemblClinVar. | 1 | |
Natural variantiVAR_018488 | 626 | H → P in CDL1. 1 Publication | 1 | |
Natural variantiVAR_012450 | 626 | H → R in CDL1; delayed age of onset. 4 PublicationsCorresponds to variant dbSNP:rs1052006472Ensembl. | 1 |
Corneal dystrophy, Thiel-Behnke type (CDTB)
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_005082 | 555 | R → Q in CDTB; originally thought to cause CDRB. 4 PublicationsCorresponds to variant dbSNP:rs121909209EnsemblClinVar. | 1 |
Corneal dystrophy, Reis-Bucklers type (CDRB)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_005078 | 124 | R → L in CDRB. 5 PublicationsCorresponds to variant dbSNP:rs121909211EnsemblClinVar. | 1 | |
Natural variantiVAR_005081 | 540 | Missing in CDRB. 2 Publications | 1 |
Corneal dystrophy, lattice type 3A (CDL3A)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_005079 | 501 | P → T in CDL3A. 2 PublicationsCorresponds to variant dbSNP:rs121909212EnsemblClinVar. | 1 | |
Natural variantiVAR_031538 | 540 | F → S in CDL3A. 1 PublicationCorresponds to variant dbSNP:rs121909214EnsemblClinVar. | 1 | |
Natural variantiVAR_012448 | 546 | A → T in CDL3A. 1 Publication | 1 | |
Natural variantiVAR_018486 | 622 | N → K in CDL3A. 1 Publication | 1 |
Corneal dystrophy, Avellino type (CDA)
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_005077 | 124 | R → H in CDA; most common mutation in Japanese. 6 PublicationsCorresponds to variant dbSNP:rs121909211EnsemblClinVar. | 1 |
Keywords - Diseasei
Amyloidosis, Corneal dystrophy, Disease variantOrganism-specific databases
DisGeNETi | 7045 |
MalaCardsi | TGFBI |
MIMi | 121820, phenotype 121900, phenotype 122200, phenotype 602082, phenotype 607541, phenotype 608470, phenotype 608471, phenotype |
OpenTargetsi | ENSG00000120708 |
Orphaneti | 98956, Epithelial basement membrane dystrophy 98962, Granular corneal dystrophy type I 98963, Granular corneal dystrophy type II 98964, Lattice corneal dystrophy type I 98961, Reis-Buecklers corneal dystrophy 98960, Thiel-Behnke corneal dystrophy |
PharmGKBi | PA36484 |
Miscellaneous databases
Pharosi | Q15582, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4295829 |
Genetic variation databases
BioMutai | TGFBI |
DMDMi | 2498193 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 23 | 1 PublicationAdd BLAST | 23 | |
ChainiPRO_0000008769 | 24 – 683 | Transforming growth factor-beta-induced protein ig-h3Add BLAST | 660 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 37 | PhosphoserineCombined sources | 1 | |
Disulfide bondi | 49 ↔ 85 | 1 Publication | ||
Modified residuei | 65 | S-cysteinyl cysteine1 Publication | 1 | |
Disulfide bondi | 74 ↔ 339 | 1 Publication | ||
Disulfide bondi | 84 ↔ 97 | 1 Publication | ||
Disulfide bondi | 214 ↔ 317 | 1 Publication | ||
Disulfide bondi | 473 ↔ 478 | 1 Publication |
Post-translational modificationi
Gamma-carboxylation is controversial. Gamma-carboxyglutamated; gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation; these residues may be required for binding to calcium (PubMed:18450759). According to a more recent report, does not contain vitamin K-dependent gamma-carboxyglutamate residues (PubMed:26273833).2 Publications
The EMI domain contains 2 expected intradomain disulfide bridges (Cys-49-Cys85 and Cys-84-Cys-97) and one unusual interdomain disulfide bridge to the second FAS1 domain (Cys-74-Cys-339). This arrangement violates the predicted disulfide bridge pattern of an EMI domain.1 Publication
Keywords - PTMi
Disulfide bond, Gamma-carboxyglutamic acid, PhosphoproteinProteomic databases
EPDi | Q15582 |
jPOSTi | Q15582 |
MassIVEi | Q15582 |
MaxQBi | Q15582 |
PaxDbi | Q15582 |
PeptideAtlasi | Q15582 |
PRIDEi | Q15582 |
ProteomicsDBi | 60645 |
PTM databases
iPTMneti | Q15582 |
PhosphoSitePlusi | Q15582 |
Expressioni
Tissue specificityi
Highly expressed in the corneal epithelium (PubMed:27609313, PubMed:8077289). Expressed in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas (PubMed:8077289).2 Publications
Inductioni
Gene expression databases
Bgeei | ENSG00000120708, Expressed in smooth muscle tissue and 242 other tissues |
ExpressionAtlasi | Q15582, baseline and differential |
Genevisiblei | Q15582, HS |
Organism-specific databases
HPAi | ENSG00000120708, Low tissue specificity |
Interactioni
Subunit structurei
Binds to type I, II, and IV collagens.
By similarityBinary interactionsi
Hide detailsQ15582
GO - Molecular functioni
- cell adhesion molecule binding Source: GO_Central
- identical protein binding Source: IntAct
- integrin binding Source: ProtInc
Protein-protein interaction databases
BioGRIDi | 112903, 6 interactors |
CORUMi | Q15582 |
IntActi | Q15582, 10 interactors |
MINTi | Q15582 |
STRINGi | 9606.ENSP00000416330 |
Miscellaneous databases
RNActi | Q15582, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q15582 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q15582 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 45 – 99 | EMIPROSITE-ProRule annotationAdd BLAST | 55 | |
Domaini | 103 – 236 | FAS1 1PROSITE-ProRule annotationAdd BLAST | 134 | |
Domaini | 240 – 371 | FAS1 2PROSITE-ProRule annotationAdd BLAST | 132 | |
Domaini | 375 – 498 | FAS1 3PROSITE-ProRule annotationAdd BLAST | 124 | |
Domaini | 502 – 632 | FAS1 4PROSITE-ProRule annotationAdd BLAST | 131 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 642 – 644 | Cell attachment siteSequence analysis | 3 |
Keywords - Domaini
Repeat, SignalPhylogenomic databases
eggNOGi | KOG1437, Eukaryota |
GeneTreei | ENSGT00530000063860 |
HOGENOMi | CLU_017611_1_0_1 |
InParanoidi | Q15582 |
OMAi | RYHMVNK |
OrthoDBi | 926852at2759 |
PhylomeDBi | Q15582 |
TreeFami | TF316269 |
Family and domain databases
Gene3Di | 2.30.180.10, 4 hits |
InterProi | View protein in InterPro IPR011489, EMI_domain IPR036378, FAS1_dom_sf IPR000782, FAS1_domain IPR032954, TGFBI IPR016666, TGFBI/POSTN |
PANTHERi | PTHR10900:SF82, PTHR10900:SF82, 1 hit |
Pfami | View protein in Pfam PF02469, Fasciclin, 4 hits |
PIRSFi | PIRSF016553, BIGH3_OSF2, 1 hit |
SMARTi | View protein in SMART SM00554, FAS1, 4 hits |
SUPFAMi | SSF82153, SSF82153, 4 hits |
PROSITEi | View protein in PROSITE PS51041, EMI, 1 hit PS50213, FAS1, 4 hits |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All
Q15582-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MALFVRLLAL ALALALGPAA TLAGPAKSPY QLVLQHSRLR GRQHGPNVCA
60 70 80 90 100
VQKVIGTNRK YFTNCKQWYQ RKICGKSTVI SYECCPGYEK VPGEKGCPAA
110 120 130 140 150
LPLSNLYETL GVVGSTTTQL YTDRTEKLRP EMEGPGSFTI FAPSNEAWAS
160 170 180 190 200
LPAEVLDSLV SNVNIELLNA LRYHMVGRRV LTDELKHGMT LTSMYQNSNI
210 220 230 240 250
QIHHYPNGIV TVNCARLLKA DHHATNGVVH LIDKVISTIT NNIQQIIEIE
260 270 280 290 300
DTFETLRAAV AASGLNTMLE GNGQYTLLAP TNEAFEKIPS ETLNRILGDP
310 320 330 340 350
EALRDLLNNH ILKSAMCAEA IVAGLSVETL EGTTLEVGCS GDMLTINGKA
360 370 380 390 400
IISNKDILAT NGVIHYIDEL LIPDSAKTLF ELAAESDVST AIDLFRQAGL
410 420 430 440 450
GNHLSGSERL TLLAPLNSVF KDGTPPIDAH TRNLLRNHII KDQLASKYLY
460 470 480 490 500
HGQTLETLGG KKLRVFVYRN SLCIENSCIA AHDKRGRYGT LFTMDRVLTP
510 520 530 540 550
PMGTVMDVLK GDNRFSMLVA AIQSAGLTET LNREGVYTVF APTNEAFRAL
560 570 580 590 600
PPRERSRLLG DAKELANILK YHIGDEILVS GGIGALVRLK SLQGDKLEVS
610 620 630 640 650
LKNNVVSVNK EPVAEPDIMA TNGVVHVITN VLQPPANRPQ ERGDELADSA
660 670 680
LEIFKQASAF SRASQRSVRL APVYQKLLER MKH
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0Y8M8 | H0Y8M8_HUMAN | Transforming growth factor-beta-ind... | TGFBI | 128 | Annotation score: | ||
H0Y8L3 | H0Y8L3_HUMAN | Transforming growth factor-beta-ind... | TGFBI | 366 | Annotation score: | ||
S4R3C6 | S4R3C6_HUMAN | Transforming growth factor-beta-ind... | TGFBI | 219 | Annotation score: | ||
H0Y9D7 | H0Y9D7_HUMAN | Transforming growth factor-beta-ind... | TGFBI | 194 | Annotation score: | ||
H0YAH8 | H0YAH8_HUMAN | Transforming growth factor-beta-ind... | TGFBI | 78 | Annotation score: | ||
H0YAB8 | H0YAB8_HUMAN | Transforming growth factor-beta-ind... | TGFBI | 59 | Annotation score: | ||
D6RBX4 | D6RBX4_HUMAN | Transforming growth factor-beta-ind... | TGFBI | 65 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_031531 | 113 | V → I in granular corneal dystrophy; unclassified form; with centrifuge pattern of opacities. 1 PublicationCorresponds to variant dbSNP:rs757933370Ensembl. | 1 | |
Natural variantiVAR_031532 | 123 | D → H in granular corneal dystrophy; unclassified form; Hanoi. 1 PublicationCorresponds to variant dbSNP:rs541270955Ensembl. | 1 | |
Natural variantiVAR_077904 | 124 | R → C in CDL1; cysteinylated; no effect on the disulfide bond pattern. 7 PublicationsCorresponds to variant dbSNP:rs121909210EnsemblClinVar. | 1 | |
Natural variantiVAR_005077 | 124 | R → H in CDA; most common mutation in Japanese. 6 PublicationsCorresponds to variant dbSNP:rs121909211EnsemblClinVar. | 1 | |
Natural variantiVAR_005078 | 124 | R → L in CDRB. 5 PublicationsCorresponds to variant dbSNP:rs121909211EnsemblClinVar. | 1 | |
Natural variantiVAR_012444 | 124 | R → S in CDGG1; late-onset; mild ocular irritation and reduction in visual acuity. 2 PublicationsCorresponds to variant dbSNP:rs121909210EnsemblClinVar. | 1 | |
Natural variantiVAR_012445 | 125 – 126 | Missing Associated with Leu-124 in atypical granular dystrophy; French granular variant. 2 Publications | 2 | |
Natural variantiVAR_014335 | 200 | I → F1 PublicationCorresponds to variant dbSNP:rs45455404Ensembl. | 1 | |
Natural variantiVAR_031533 | 269 | L → F1 PublicationCorresponds to variant dbSNP:rs199852470EnsemblClinVar. | 1 | |
Natural variantiVAR_031534 | 496 | R → G. Corresponds to variant dbSNP:rs10057190EnsemblClinVar. | 1 | |
Natural variantiVAR_005079 | 501 | P → T in CDL3A. 2 PublicationsCorresponds to variant dbSNP:rs121909212EnsemblClinVar. | 1 | |
Natural variantiVAR_031535 | 505 | V → D in CDL1. 1 Publication | 1 | |
Natural variantiVAR_031536 | 509 | L → R in EBMD. 1 PublicationCorresponds to variant dbSNP:rs121909216EnsemblClinVar. | 1 | |
Natural variantiVAR_012446 | 518 | L → P in CDL1. 1 Publication | 1 | |
Natural variantiVAR_018484 | 518 | L → R in CDL1; severe phenotype; delayed age of onset. 1 Publication | 1 | |
Natural variantiVAR_005080 | 527 | L → R in CDL1; late-onset; found also in sporadic cases. 3 PublicationsCorresponds to variant dbSNP:rs1050842080Ensembl. | 1 | |
Natural variantiVAR_018485 | 538 | T → R in CDL1; delayed age of onset. 1 Publication | 1 | |
Natural variantiVAR_031537 | 539 | V → D in lattice corneal dystrophy; unclassified form. 1 PublicationCorresponds to variant dbSNP:rs1382893670Ensembl. | 1 | |
Natural variantiVAR_031538 | 540 | F → S in CDL3A. 1 PublicationCorresponds to variant dbSNP:rs121909214EnsemblClinVar. | 1 | |
Natural variantiVAR_005081 | 540 | Missing in CDRB. 2 Publications | 1 | |
Natural variantiVAR_012447 | 544 | N → S Found in lattice corneal dystrophy; unclassified form; late-onset. 1 PublicationCorresponds to variant dbSNP:rs777288957EnsemblClinVar. | 1 | |
Natural variantiVAR_031539 | 546 | A → D in CDL1; associated with Q-551. 1 PublicationCorresponds to variant dbSNP:rs267607109EnsemblClinVar. | 1 | |
Natural variantiVAR_012448 | 546 | A → T in CDL3A. 1 Publication | 1 | |
Natural variantiVAR_031540 | 551 | P → Q in CDL1; associated with D-546. 1 PublicationCorresponds to variant dbSNP:rs267607110EnsemblClinVar. | 1 | |
Natural variantiVAR_005082 | 555 | R → Q in CDTB; originally thought to cause CDRB. 4 PublicationsCorresponds to variant dbSNP:rs121909209EnsemblClinVar. | 1 | |
Natural variantiVAR_005083 | 555 | R → W in CDGG1; common mutation in Europe and United States; rare in Japan. 7 PublicationsCorresponds to variant dbSNP:rs121909208EnsemblClinVar. | 1 | |
Natural variantiVAR_031541 | 569 | L → R in CDL1. 1 Publication | 1 | |
Natural variantiVAR_031543 | 572 | H → R in CDL1; late-onset. 1 Publication | 1 | |
Natural variantiVAR_031542 | 572 | Missing in CDL1; late-onset and unilateral phenotype. 1 Publication | 1 | |
Natural variantiVAR_031544 | 594 | G → V in lattice corneal dystrophy; unclassified form. 1 Publication | 1 | |
Natural variantiVAR_012449 | 622 | N → H in asymmetric lattice corneal dystrophy. 1 Publication | 1 | |
Natural variantiVAR_018486 | 622 | N → K in CDL3A. 1 Publication | 1 | |
Natural variantiVAR_018487 | 623 | G → D in CDL1; delayed age of onset. 1 PublicationCorresponds to variant dbSNP:rs121909215EnsemblClinVar. | 1 | |
Natural variantiVAR_031545 | 624 – 625 | Missing in lattice corneal dystrophy; unclassified form. 1 Publication | 2 | |
Natural variantiVAR_018488 | 626 | H → P in CDL1. 1 Publication | 1 | |
Natural variantiVAR_012450 | 626 | H → R in CDL1; delayed age of onset. 4 PublicationsCorresponds to variant dbSNP:rs1052006472Ensembl. | 1 | |
Natural variantiVAR_018489 | 631 | V → D Found in lattice corneal dystrophy; unclassified form. 1 Publication | 1 | |
Natural variantiVAR_031546 | 666 | R → S in EBMD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121909217EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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 |
Genome annotation databases
Ensembli | ENST00000442011; ENSP00000416330; ENSG00000120708 |
GeneIDi | 7045 |
KEGGi | hsa:7045 |
UCSCi | uc003lbf.5, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB 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 | [»] | |
5NV6 | X-ray | 2.93 | A/B | 1-683 | [»] | |
7AS7 | X-ray | 2.65 | A | 45-632 | [»] | |
7ASC | X-ray | 4.80 | A/B | 45-633 | [»] | |
7ASG | X-ray | 2.00 | A | 45-632 | [»] | |
SMRi | Q15582 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112903, 6 interactors |
CORUMi | Q15582 |
IntActi | Q15582, 10 interactors |
MINTi | Q15582 |
STRINGi | 9606.ENSP00000416330 |
Chemistry databases
ChEMBLi | CHEMBL4295829 |
PTM databases
iPTMneti | Q15582 |
PhosphoSitePlusi | Q15582 |
Genetic variation databases
BioMutai | TGFBI |
DMDMi | 2498193 |
Proteomic databases
EPDi | Q15582 |
jPOSTi | Q15582 |
MassIVEi | Q15582 |
MaxQBi | Q15582 |
PaxDbi | Q15582 |
PeptideAtlasi | Q15582 |
PRIDEi | Q15582 |
ProteomicsDBi | 60645 |
Protocols and materials databases
Antibodypediai | 1982, 407 antibodies |
DNASUi | 7045 |
Genome annotation databases
Ensembli | ENST00000442011; ENSP00000416330; ENSG00000120708 |
GeneIDi | 7045 |
KEGGi | hsa:7045 |
UCSCi | uc003lbf.5, human |
Organism-specific databases
CTDi | 7045 |
DisGeNETi | 7045 |
GeneCardsi | TGFBI |
HGNCi | HGNC:11771, TGFBI |
HPAi | ENSG00000120708, Low tissue specificity |
MalaCardsi | TGFBI |
MIMi | 121820, phenotype 121900, phenotype 122200, phenotype 601692, gene 602082, phenotype 607541, phenotype 608470, phenotype 608471, phenotype |
neXtProti | NX_Q15582 |
OpenTargetsi | ENSG00000120708 |
Orphaneti | 98956, Epithelial basement membrane dystrophy 98962, Granular corneal dystrophy type I 98963, Granular corneal dystrophy type II 98964, Lattice corneal dystrophy type I 98961, Reis-Buecklers corneal dystrophy 98960, Thiel-Behnke corneal dystrophy |
PharmGKBi | PA36484 |
VEuPathDBi | HostDB:ENSG00000120708.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1437, Eukaryota |
GeneTreei | ENSGT00530000063860 |
HOGENOMi | CLU_017611_1_0_1 |
InParanoidi | Q15582 |
OMAi | RYHMVNK |
OrthoDBi | 926852at2759 |
PhylomeDBi | Q15582 |
TreeFami | TF316269 |
Enzyme and pathway databases
PathwayCommonsi | Q15582 |
Reactomei | R-HSA-977225, Amyloid fiber formation |
SIGNORi | Q15582 |
Miscellaneous databases
BioGRID-ORCSi | 7045, 4 hits in 991 CRISPR screens |
ChiTaRSi | TGFBI, human |
EvolutionaryTracei | Q15582 |
GeneWikii | TGFBI |
GenomeRNAii | 7045 |
Pharosi | Q15582, Tbio |
PROi | PR:Q15582 |
RNActi | Q15582, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000120708, Expressed in smooth muscle tissue and 242 other tissues |
ExpressionAtlasi | Q15582, baseline and differential |
Genevisiblei | Q15582, HS |
Family and domain databases
Gene3Di | 2.30.180.10, 4 hits |
InterProi | View protein in InterPro IPR011489, EMI_domain IPR036378, FAS1_dom_sf IPR000782, FAS1_domain IPR032954, TGFBI IPR016666, TGFBI/POSTN |
PANTHERi | PTHR10900:SF82, PTHR10900:SF82, 1 hit |
Pfami | View protein in Pfam PF02469, Fasciclin, 4 hits |
PIRSFi | PIRSF016553, BIGH3_OSF2, 1 hit |
SMARTi | View protein in SMART SM00554, FAS1, 4 hits |
SUPFAMi | SSF82153, SSF82153, 4 hits |
PROSITEi | View protein in PROSITE PS51041, EMI, 1 hit PS50213, FAS1, 4 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | BGH3_HUMAN | |
Accessioni | Q15582Primary (citable) accession number: Q15582 Secondary accession number(s): D3DQB1 Q53XM1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | November 1, 1996 | |
Last modified: | April 7, 2021 | |
This is version 209 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references