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Protein

Transforming growth factor-beta-induced protein ig-h3

Gene

TGFBI

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

  • collagen binding Source: BHF-UCL
  • extracellular matrix binding Source: Ensembl
  • extracellular matrix structural constituent Source: BHF-UCL
  • integrin binding Source: ProtInc

GO - Biological processi

Keywordsi

Biological processCell adhesion, Sensory transduction, Vision

Enzyme and pathway databases

ReactomeiR-HSA-977225 Amyloid fiber formation
SIGNORiQ15582

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
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000120708.16
HGNCiHGNC:11771 TGFBI
MIMi601692 gene
neXtProtiNX_Q15582

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Amyloid, Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Corneal dystrophy, epithelial basement membrane (EBMD)1 Publication
The disease is caused by mutations 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.
See also OMIM:121820
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031536509L → R in EBMD. 1 PublicationCorresponds to variant dbSNP:rs121909216EnsemblClinVar.1
Natural variantiVAR_031546666R → 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 mutations 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.
See also OMIM:121900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012444124R → S in CDGG1; late-onset; mild ocular irritation and reduction in visual acuity. 2 PublicationsCorresponds to variant dbSNP:rs121909210EnsemblClinVar.1
Natural variantiVAR_005083555R → 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 mutations 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.
See also OMIM:122200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077904124R → C in CDL1; cysteinylated; no effect on the disulfide bond pattern. 7 PublicationsCorresponds to variant dbSNP:rs121909210EnsemblClinVar.1
Natural variantiVAR_031535505V → D in CDL1. 1 Publication1
Natural variantiVAR_012446518L → P in CDL1. 1 Publication1
Natural variantiVAR_018484518L → R in CDL1; severe phenotype; delayed age of onset. 1 Publication1
Natural variantiVAR_005080527L → R in CDL1; late-onset; found also in sporadic cases. 3 PublicationsCorresponds to variant dbSNP:rs1050842080Ensembl.1
Natural variantiVAR_018485538T → R in CDL1; delayed age of onset. 1 Publication1
Natural variantiVAR_031539546A → D in CDL1; associated with Q-551. 1 PublicationCorresponds to variant dbSNP:rs267607109EnsemblClinVar.1
Natural variantiVAR_031540551P → Q in CDL1; associated with D-546. 1 PublicationCorresponds to variant dbSNP:rs267607110EnsemblClinVar.1
Natural variantiVAR_031541569L → R in CDL1. 1 Publication1
Natural variantiVAR_031543572H → R in CDL1; late-onset. 1 Publication1
Natural variantiVAR_031542572Missing in CDL1; late-onset and unilateral phenotype. 1 Publication1
Natural variantiVAR_018487623G → D in CDL1; delayed age of onset. 1 PublicationCorresponds to variant dbSNP:rs121909215EnsemblClinVar.1
Natural variantiVAR_018488626H → P in CDL1. 1 Publication1
Natural variantiVAR_012450626H → 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 mutations 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.
See also OMIM:602082
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005082555R → 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 mutations 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.
See also OMIM:608470
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005078124R → L in CDRB. 5 PublicationsCorresponds to variant dbSNP:rs121909211EnsemblClinVar.1
Natural variantiVAR_005081540Missing in CDRB. 2 Publications1
Corneal dystrophy, lattice type 3A (CDL3A)2 Publications
The disease is caused by mutations 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.
See also OMIM:608471
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005079501P → T in CDL3A. 2 PublicationsCorresponds to variant dbSNP:rs121909212EnsemblClinVar.1
Natural variantiVAR_031538540F → S in CDL3A. 1 PublicationCorresponds to variant dbSNP:rs121909214EnsemblClinVar.1
Natural variantiVAR_012448546A → T in CDL3A. 1 Publication1
Natural variantiVAR_018486622N → K in CDL3A. 1 Publication1
Corneal dystrophy, Avellino type (CDA)
The disease is caused by mutations 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.
See also OMIM:607541
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005077124R → H in CDA; most common mutation in Japanese. 6 PublicationsCorresponds to variant dbSNP:rs121909211EnsemblClinVar.1

Keywords - Diseasei

Amyloidosis, Corneal dystrophy, Disease mutation

Organism-specific databases

DisGeNETi7045
MalaCardsiTGFBI
MIMi121820 phenotype
121900 phenotype
122200 phenotype
602082 phenotype
607541 phenotype
608470 phenotype
608471 phenotype
OpenTargetsiENSG00000120708
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

Polymorphism and mutation databases

BioMutaiTGFBI
DMDMi2498193

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 231 PublicationAdd BLAST23
ChainiPRO_000000876924 – 683Transforming growth factor-beta-induced protein ig-h3Add BLAST660

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei37PhosphoserineCombined sources1
Disulfide bondi49 ↔ 851 Publication
Modified residuei65S-cysteinyl cysteine1 Publication1
Disulfide bondi74 ↔ 3391 Publication
Disulfide bondi84 ↔ 971 Publication
Disulfide bondi214 ↔ 3171 Publication
Disulfide bondi473 ↔ 4781 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, Phosphoprotein

Proteomic databases

EPDiQ15582
MaxQBiQ15582
PaxDbiQ15582
PeptideAtlasiQ15582
PRIDEiQ15582
ProteomicsDBi60645

PTM databases

iPTMnetiQ15582
PhosphoSitePlusiQ15582

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

By TGF-beta (PubMed:1388724, PubMed:8024701).2 Publications

Gene expression databases

BgeeiENSG00000120708 Expressed in 228 organ(s), highest expression level in smooth muscle tissue
CleanExiHS_TGFBI
ExpressionAtlasiQ15582 baseline and differential
GenevisibleiQ15582 HS

Organism-specific databases

HPAiHPA008612
HPA017019

Interactioni

Subunit structurei

Binds to type I, II, and IV collagens.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
FAM9BQ8IZU03EBI-10236573,EBI-10175124

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112903, 2 interactors
CORUMiQ15582
IntActiQ15582, 4 interactors
MINTiQ15582
STRINGi9606.ENSP00000416330

Structurei

Secondary structure

1683
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ15582
SMRiQ15582
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ15582

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini45 – 99EMIPROSITE-ProRule annotationAdd BLAST55
Domaini103 – 236FAS1 1PROSITE-ProRule annotationAdd BLAST134
Domaini240 – 371FAS1 2PROSITE-ProRule annotationAdd BLAST132
Domaini375 – 498FAS1 3PROSITE-ProRule annotationAdd BLAST124
Domaini502 – 632FAS1 4PROSITE-ProRule annotationAdd BLAST131

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi642 – 644Cell attachment siteSequence analysis3

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiKOG1437 Eukaryota
COG2335 LUCA
GeneTreeiENSGT00530000063860
HOVERGENiHBG000715
InParanoidiQ15582
KOiK19519
OMAiKHGMALT
OrthoDBiEOG091G020T
PhylomeDBiQ15582
TreeFamiTF316269

Family and domain databases

Gene3Di2.30.180.10, 4 hits
InterProiView protein in InterPro
IPR011489 EMI_domain
IPR036378 FAS1_dom_sf
IPR000782 FAS1_domain
IPR032954 TGFBI
IPR016666 TGFBI/POSTN
PANTHERiPTHR10900:SF82 PTHR10900:SF82, 1 hit
PfamiView protein in Pfam
PF02469 Fasciclin, 4 hits
PIRSFiPIRSF016553 BIGH3_OSF2, 1 hit
SMARTiView protein in SMART
SM00554 FAS1, 4 hits
SUPFAMiSSF82153 SSF82153, 4 hits
PROSITEiView protein in PROSITE
PS51041 EMI, 1 hit
PS50213 FAS1, 4 hits

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.iShow all

Q15582-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:683
Mass (Da):74,681
Last modified:November 1, 1996 - v1
Checksum:i40FDC8A71EBB3D00
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
S4R3C6S4R3C6_HUMAN
Transforming growth factor-beta-ind...
TGFBI
219Annotation score:
H0Y8L3H0Y8L3_HUMAN
Transforming growth factor-beta-ind...
TGFBI
366Annotation score:
H0Y9D7H0Y9D7_HUMAN
Transforming growth factor-beta-ind...
TGFBI
194Annotation score:
H0YAH8H0YAH8_HUMAN
Transforming growth factor-beta-ind...
TGFBI
78Annotation score:
H0Y8M8H0Y8M8_HUMAN
Transforming growth factor-beta-ind...
TGFBI
128Annotation score:
H0YAB8H0YAB8_HUMAN
Transforming growth factor-beta-ind...
TGFBI
59Annotation score:
D6RBX4D6RBX4_HUMAN
Transforming growth factor-beta-ind...
TGFBI
65Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031531113V → I in granular corneal dystrophy; unclassified form; with centrifuge pattern of opacities. 1 PublicationCorresponds to variant dbSNP:rs757933370Ensembl.1
Natural variantiVAR_031532123D → H in granular corneal dystrophy; unclassified form; Hanoi. 1 PublicationCorresponds to variant dbSNP:rs541270955Ensembl.1
Natural variantiVAR_077904124R → C in CDL1; cysteinylated; no effect on the disulfide bond pattern. 7 PublicationsCorresponds to variant dbSNP:rs121909210EnsemblClinVar.1
Natural variantiVAR_005077124R → H in CDA; most common mutation in Japanese. 6 PublicationsCorresponds to variant dbSNP:rs121909211EnsemblClinVar.1
Natural variantiVAR_005078124R → L in CDRB. 5 PublicationsCorresponds to variant dbSNP:rs121909211EnsemblClinVar.1
Natural variantiVAR_012444124R → S in CDGG1; late-onset; mild ocular irritation and reduction in visual acuity. 2 PublicationsCorresponds to variant dbSNP:rs121909210EnsemblClinVar.1
Natural variantiVAR_012445125 – 126Missing Associated with Leu-124 in atypical granular dystrophy; French granular variant. 2 Publications2
Natural variantiVAR_014335200I → F1 PublicationCorresponds to variant dbSNP:rs45455404Ensembl.1
Natural variantiVAR_031533269L → F1 PublicationCorresponds to variant dbSNP:rs199852470Ensembl.1
Natural variantiVAR_031534496R → G. Corresponds to variant dbSNP:rs10057190Ensembl.1
Natural variantiVAR_005079501P → T in CDL3A. 2 PublicationsCorresponds to variant dbSNP:rs121909212EnsemblClinVar.1
Natural variantiVAR_031535505V → D in CDL1. 1 Publication1
Natural variantiVAR_031536509L → R in EBMD. 1 PublicationCorresponds to variant dbSNP:rs121909216EnsemblClinVar.1
Natural variantiVAR_012446518L → P in CDL1. 1 Publication1
Natural variantiVAR_018484518L → R in CDL1; severe phenotype; delayed age of onset. 1 Publication1
Natural variantiVAR_005080527L → R in CDL1; late-onset; found also in sporadic cases. 3 PublicationsCorresponds to variant dbSNP:rs1050842080Ensembl.1
Natural variantiVAR_018485538T → R in CDL1; delayed age of onset. 1 Publication1
Natural variantiVAR_031537539V → D in lattice corneal dystrophy; unclassified form. 1 Publication1
Natural variantiVAR_031538540F → S in CDL3A. 1 PublicationCorresponds to variant dbSNP:rs121909214EnsemblClinVar.1
Natural variantiVAR_005081540Missing in CDRB. 2 Publications1
Natural variantiVAR_012447544N → S Found in lattice corneal dystrophy; unclassified form; late-onset. 1 PublicationCorresponds to variant dbSNP:rs777288957EnsemblClinVar.1
Natural variantiVAR_031539546A → D in CDL1; associated with Q-551. 1 PublicationCorresponds to variant dbSNP:rs267607109EnsemblClinVar.1
Natural variantiVAR_012448546A → T in CDL3A. 1 Publication1
Natural variantiVAR_031540551P → Q in CDL1; associated with D-546. 1 PublicationCorresponds to variant dbSNP:rs267607110EnsemblClinVar.1
Natural variantiVAR_005082555R → Q in CDTB; originally thought to cause CDRB. 4 PublicationsCorresponds to variant dbSNP:rs121909209EnsemblClinVar.1
Natural variantiVAR_005083555R → W in CDGG1; common mutation in Europe and United States; rare in Japan. 7 PublicationsCorresponds to variant dbSNP:rs121909208EnsemblClinVar.1
Natural variantiVAR_031541569L → R in CDL1. 1 Publication1
Natural variantiVAR_031543572H → R in CDL1; late-onset. 1 Publication1
Natural variantiVAR_031542572Missing in CDL1; late-onset and unilateral phenotype. 1 Publication1
Natural variantiVAR_031544594G → V in lattice corneal dystrophy; unclassified form. 1 Publication1
Natural variantiVAR_012449622N → H in asymmetric lattice corneal dystrophy. 1 Publication1
Natural variantiVAR_018486622N → K in CDL3A. 1 Publication1
Natural variantiVAR_018487623G → D in CDL1; delayed age of onset. 1 PublicationCorresponds to variant dbSNP:rs121909215EnsemblClinVar.1
Natural variantiVAR_031545624 – 625Missing in lattice corneal dystrophy; unclassified form. 1 Publication2
Natural variantiVAR_018488626H → P in CDL1. 1 Publication1
Natural variantiVAR_012450626H → R in CDL1; delayed age of onset. 4 PublicationsCorresponds to variant dbSNP:rs1052006472Ensembl.1
Natural variantiVAR_018489631V → D Found in lattice corneal dystrophy; unclassified form. 1 Publication1
Natural variantiVAR_031546666R → 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
CCDSiCCDS47266.1
PIRiI52996
RefSeqiNP_000349.1, NM_000358.2
UniGeneiHs.369397

Genome annotation databases

EnsembliENST00000442011; ENSP00000416330; ENSG00000120708
GeneIDi7045
KEGGihsa:7045
UCSCiuc003lbf.5 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS47266.1
PIRiI52996
RefSeqiNP_000349.1, NM_000358.2
UniGeneiHs.369397

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1X3BNMR-A502-634[»]
2LTBNMR-A502-634[»]
2LTCNMR-A502-634[»]
2VXPX-ray2.50A/B502-633[»]
5NV6X-ray2.93A/B1-683[»]
ProteinModelPortaliQ15582
SMRiQ15582
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112903, 2 interactors
CORUMiQ15582
IntActiQ15582, 4 interactors
MINTiQ15582
STRINGi9606.ENSP00000416330

PTM databases

iPTMnetiQ15582
PhosphoSitePlusiQ15582

Polymorphism and mutation databases

BioMutaiTGFBI
DMDMi2498193

Proteomic databases

EPDiQ15582
MaxQBiQ15582
PaxDbiQ15582
PeptideAtlasiQ15582
PRIDEiQ15582
ProteomicsDBi60645

Protocols and materials databases

DNASUi7045
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000442011; ENSP00000416330; ENSG00000120708
GeneIDi7045
KEGGihsa:7045
UCSCiuc003lbf.5 human

Organism-specific databases

CTDi7045
DisGeNETi7045
EuPathDBiHostDB:ENSG00000120708.16
GeneCardsiTGFBI
HGNCiHGNC:11771 TGFBI
HPAiHPA008612
HPA017019
MalaCardsiTGFBI
MIMi121820 phenotype
121900 phenotype
122200 phenotype
601692 gene
602082 phenotype
607541 phenotype
608470 phenotype
608471 phenotype
neXtProtiNX_Q15582
OpenTargetsiENSG00000120708
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
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1437 Eukaryota
COG2335 LUCA
GeneTreeiENSGT00530000063860
HOVERGENiHBG000715
InParanoidiQ15582
KOiK19519
OMAiKHGMALT
OrthoDBiEOG091G020T
PhylomeDBiQ15582
TreeFamiTF316269

Enzyme and pathway databases

ReactomeiR-HSA-977225 Amyloid fiber formation
SIGNORiQ15582

Miscellaneous databases

ChiTaRSiTGFBI human
EvolutionaryTraceiQ15582
GeneWikiiTGFBI
GenomeRNAii7045
PROiPR:Q15582
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000120708 Expressed in 228 organ(s), highest expression level in smooth muscle tissue
CleanExiHS_TGFBI
ExpressionAtlasiQ15582 baseline and differential
GenevisibleiQ15582 HS

Family and domain databases

Gene3Di2.30.180.10, 4 hits
InterProiView protein in InterPro
IPR011489 EMI_domain
IPR036378 FAS1_dom_sf
IPR000782 FAS1_domain
IPR032954 TGFBI
IPR016666 TGFBI/POSTN
PANTHERiPTHR10900:SF82 PTHR10900:SF82, 1 hit
PfamiView protein in Pfam
PF02469 Fasciclin, 4 hits
PIRSFiPIRSF016553 BIGH3_OSF2, 1 hit
SMARTiView protein in SMART
SM00554 FAS1, 4 hits
SUPFAMiSSF82153 SSF82153, 4 hits
PROSITEiView protein in PROSITE
PS51041 EMI, 1 hit
PS50213 FAS1, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiBGH3_HUMAN
AccessioniPrimary (citable) accession number: Q15582
Secondary accession number(s): D3DQB1
, O14471, O14472, O14476, O43216, O43217, O43218, O43219, Q53XM1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: September 12, 2018
This is version 192 of the entry and version 1 of the sequence. See 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, Direct protein sequencing, Reference proteome
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Main funding by: National Institutes of Health

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