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UniProtKB - Q15582 (BGH3_HUMAN)

>sp|Q15582|BGH3_HUMAN Transforming growth factor-beta-induced protein ig-h3 OS=Homo sapiens OX=9606 GN=TGFBI PE=1 SV=1
MALFVRLLALALALALGPAATLAGPAKSPYQLVLQHSRLRGRQHGPNVCAVQKVIGTNRK
YFTNCKQWYQRKICGKSTVISYECCPGYEKVPGEKGCPAALPLSNLYETLGVVGSTTTQL
YTDRTEKLRPEMEGPGSFTIFAPSNEAWASLPAEVLDSLVSNVNIELLNALRYHMVGRRV
LTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLLKADHHATNGVVHLIDKVISTIT
NNIQQIIEIEDTFETLRAAVAASGLNTMLEGNGQYTLLAPTNEAFEKIPSETLNRILGDP
EALRDLLNNHILKSAMCAEAIVAGLSVETLEGTTLEVGCSGDMLTINGKAIISNKDILAT
NGVIHYIDELLIPDSAKTLFELAAESDVSTAIDLFRQAGLGNHLSGSERLTLLAPLNSVF
KDGTPPIDAHTRNLLRNHIIKDQLASKYLYHGQTLETLGGKKLRVFVYRNSLCIENSCIA
AHDKRGRYGTLFTMDRVLTPPMGTVMDVLKGDNRFSMLVAAIQSAGLTETLNREGVYTVF
APTNEAFRALPPRERSRLLGDAKELANILKYHIGDEILVSGGIGALVRLKSLQGDKLEVS
LKNNVVSVNKEPVAEPDIMATNGVVHVITNVLQPPANRPQERGDELADSALEIFKQASAF
SRASQRSVRLAPVYQKLLERMKH

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History
Entry version 194 (07 Nov 2018)
Sequence version 1 (01 Nov 1996)
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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

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

angiogenesis
Source: UniProtKB
Inferred from expression patternⁱ
- 11866539
cell adhesion
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
cell proliferation
Source: ProtInc
Traceable author statementⁱ
- 1388724
cellular protein metabolic process Source: Reactome
chondrocyte differentiation Source: Ensembl
extracellular matrix organization
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
negative regulation of cell adhesion
Source: ProtInc
Traceable author statementⁱ
- 8024701
response to stimulus Source: UniProtKB-KW
visual perception
Source: ProtInc
Traceable author statementⁱ
- 9463327

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process

Cell adhesion, Sensory transduction, Vision

Enzyme and pathway databases

Reactomeⁱ	R-HSA-977225 Amyloid fiber formation
SIGNORⁱ	Q15582

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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 5

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000120708.16
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11771 TGFBI
MIMⁱ	601692 gene
neXtProtⁱ	NX_Q15582

Subcellular locationⁱ

UniProt annotation
GO - Cellular component

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 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 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 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 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 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 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 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 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 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 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 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 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 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 mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	7045
MalaCards human disease database More...MalaCardsⁱ	TGFBI
MIMⁱ	121820 phenotype 121900 phenotype 122200 phenotype 602082 phenotype 607541 phenotype 608470 phenotype 608471 phenotype
Open Targets More...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-Bucklers corneal dystrophy 98960 Thiel-Behnke corneal dystrophy
PharmGKBⁱ	PA36484

Polymorphism and mutation 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, Phosphoprotein

Proteomic databases

EPDⁱ	Q15582
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q15582
PaxDbⁱ	Q15582
PeptideAtlas More...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

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

Gene expression databases

Bgeeⁱ	ENSG00000120708 Expressed in 228 organ(s), highest expression level in smooth muscle tissue
CleanExⁱ	HS_TGFBI
ExpressionAtlasⁱ	Q15582 baseline and differential
Genevisibleⁱ	Q15582 HS

Organism-specific databases

HPAⁱ

HPA008612
HPA017019

Interactionⁱ

Subunit structureⁱ

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

Binary interactionsⁱ

With

Entry

#Exp.

IntAct

Notes

FAM9B

3

EBI-10236573,EBI-10175124

GO - Molecular functionⁱ

cell adhesion molecule binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
integrin binding
Source: ProtInc
Traceable author statementⁱ
- 1388724

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	112903, 2 interactors
CORUMⁱ	Q15582
IntActⁱ	Q15582, 4 interactors
Molecular INTeraction database More...MINTⁱ	Q15582
STRINGⁱ	9606.ENSP00000416330

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Show more details

3D structure databases

ProteinModelPortalⁱ	Q15582
SMRⁱ	Q15582
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ

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

Phylogenomic databases

eggNOGⁱ	KOG1437 Eukaryota COG2335 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00530000063860
HOVERGENⁱ	HBG000715
InParanoidⁱ	Q15582
KEGG Orthology (KO) More...KOⁱ	K19519
OMAⁱ	MGNAKEL
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G020T
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
Pfam protein domain database More...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

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.Show all Align All

Q15582-1 [UniParc]FASTA Add 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

Length:683

Mass (Da):74,681

Last modified:November 1, 1996 - v1

Checksum:ⁱ40FDC8A71EBB3D00

Computationally mapped potential isoform sequencesⁱ

There are 7 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	S4R3C6	S4R3C6_HUMAN		Transforming growth factor-beta-ind... Transforming growth factor-beta-induced protein ig-h3	TGFBI	219	Annotation score:
	H0Y8L3	H0Y8L3_HUMAN		Transforming growth factor-beta-ind... Transforming growth factor-beta-induced protein ig-h3	TGFBI	366	Annotation score:
	H0Y8M8	H0Y8M8_HUMAN		Transforming growth factor-beta-ind... Transforming growth factor-beta-induced protein ig-h3	TGFBI	128	Annotation score:
	H0YAH8	H0YAH8_HUMAN		Transforming growth factor-beta-ind... Transforming growth factor-beta-induced protein ig-h3	TGFBI	78	Annotation score:
	H0Y9D7	H0Y9D7_HUMAN		Transforming growth factor-beta-ind... Transforming growth factor-beta-induced protein ig-h3	TGFBI	194	Annotation score:
	H0YAB8	H0YAB8_HUMAN		Transforming growth factor-beta-ind... Transforming growth factor-beta-induced protein ig-h3	TGFBI	59	Annotation score:
	D6RBX4	D6RBX4_HUMAN		Transforming growth factor-beta-ind... Transforming growth factor-beta-induced protein ig-h3	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:rs199852470Ensembl.		1
Natural variantⁱVAR_031534	496	R → G. Corresponds to variant dbSNP:rs10057190Ensembl.		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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS47266.1
PIRⁱ	I52996
NCBI Reference Sequences More...RefSeqⁱ	NP_000349.1, NM_000358.2
UniGeneⁱ	Hs.369397

Genome annotation databases

Ensemblⁱ	ENST00000442011; ENSP00000416330; ENSG00000120708
GeneIDⁱ	7045
KEGGⁱ	hsa:7045
UCSC genome browser More...UCSCⁱ	uc003lbf.5 human

Keywords - Coding sequence diversityⁱ

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Cross-referencesⁱ

Web resourcesⁱ

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
UniGeneⁱ	Hs.369397

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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	[»]
ProteinModelPortalⁱ	Q15582
SMRⁱ	Q15582
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	112903, 2 interactors
CORUMⁱ	Q15582
IntActⁱ	Q15582, 4 interactors
MINTⁱ	Q15582
STRINGⁱ	9606.ENSP00000416330

PTM databases

iPTMnetⁱ	Q15582
PhosphoSitePlusⁱ	Q15582

Polymorphism and mutation databases

BioMutaⁱ	TGFBI
DMDMⁱ	2498193

Proteomic databases

EPDⁱ	Q15582
MaxQBⁱ	Q15582
PaxDbⁱ	Q15582
PeptideAtlasⁱ	Q15582
PRIDEⁱ	Q15582
ProteomicsDBⁱ	60645

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	7045
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000442011; ENSP00000416330; ENSG00000120708
GeneIDⁱ	7045
KEGGⁱ	hsa:7045
UCSCⁱ	uc003lbf.5 human

Organism-specific databases

CTDⁱ	7045
DisGeNETⁱ	7045
EuPathDBⁱ	HostDB:ENSG00000120708.16
GeneCardsⁱ	TGFBI
HGNCⁱ	HGNC:11771 TGFBI
HPAⁱ	HPA008612 HPA017019
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-Bucklers corneal dystrophy 98960 Thiel-Behnke corneal dystrophy
PharmGKBⁱ	PA36484
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1437 Eukaryota COG2335 LUCA
GeneTreeⁱ	ENSGT00530000063860
HOVERGENⁱ	HBG000715
InParanoidⁱ	Q15582
KOⁱ	K19519
OMAⁱ	MGNAKEL
OrthoDBⁱ	EOG091G020T
PhylomeDBⁱ	Q15582
TreeFamⁱ	TF316269

Enzyme and pathway databases

Reactomeⁱ	R-HSA-977225 Amyloid fiber formation
SIGNORⁱ	Q15582

Miscellaneous databases

ChiTaRSⁱ	TGFBI human
EvolutionaryTraceⁱ	Q15582
GeneWikiⁱ	TGFBI
GenomeRNAiⁱ	7045
Protein Ontology More...PROⁱ	PR:Q15582
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000120708 Expressed in 228 organ(s), highest expression level in smooth muscle tissue
CleanExⁱ	HS_TGFBI
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...

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:	November 7, 2018
	This is version 194 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
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
Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM

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