HUMAN:BGH3

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	TGFBI (synonyms: BIGH3)
Protein Name(s)	Transforming growth factor-beta-induced protein ig-h3 Beta ig-h3 Kerato-epithelin RGD-containing collagen-associated protein RGD-CAP
External Links
UniProt	Q15582
EMBL	M77349 AF035626 AF035627 AF035628 AF035629 AY149344 BT009820 AC004503 AC005219 CH471062 CH471062 BC000097 BC004972
CCDS	CCDS47266.1
PIR	I52996
RefSeq	NP_000349.1
UniGene	Hs.369397
PDB	1X3B 2LTB 2LTC 2VXP
PDBsum	1X3B 2LTB 2LTC 2VXP
ProteinModelPortal	Q15582
SMR	Q15582
BioGrid	112903
MINT	MINT-122359
STRING	9606.ENSP00000416330
PhosphoSite	Q15582
DMDM	2498193
MaxQB	Q15582
PaxDb	Q15582
PeptideAtlas	Q15582
PRIDE	Q15582
DNASU	7045
Ensembl	ENST00000442011
GeneID	7045
KEGG	hsa:7045
UCSC	uc003lbf.4
CTD	7045
GeneCards	GC05P135364
HGNC	HGNC:11771
HPA	HPA008612 HPA017019
MIM	121820 121900 122200 601692 602082 607541 608470 608471
neXtProt	NX_Q15582
Orphanet	98962 98963 98964 98956 98961 98960
PharmGKB	PA36484
eggNOG	COG2335
GeneTree	ENSGT00530000063860
HOVERGEN	HBG000715
InParanoid	Q15582
OMA	KNHILKS
OrthoDB	EOG7N8ZV1
PhylomeDB	Q15582
TreeFam	TF316269
Reactome	REACT_75925
ChiTaRS	TGFBI
EvolutionaryTrace	Q15582
GeneWiki	TGFBI
GenomeRNAi	7045
NextBio	27529
PRO	PR:Q15582
Proteomes	UP000005640
Bgee	Q15582
CleanEx	HS_TGFBI
ExpressionAtlas	Q15582
Genevestigator	Q15582
GO	GO:0005604 GO:0005576 GO:0005615 GO:0070062 GO:0005886 GO:0005802 GO:0005518 GO:0050840 GO:0005178 GO:0001525 GO:0007155 GO:0008283 GO:0002062 GO:0030198 GO:0007162 GO:0050896 GO:0007601
Gene3D	2.30.180.10
InterPro	IPR011489 IPR000782 IPR016666
Pfam	PF02469
PIRSF	PIRSF016553
SMART	SM00554
SUPFAM	SSF82153
PROSITE	PS51041 PS50213

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
enables	GO:0005201	extracellular matrix structural constituent	PMID:28327460^[1]	ECO:0007666	automatically integrated combinatorial computational and experimental evidence used in manual assertion		F	occurs_in:(CL:0002540)	Seeded From UniProt	complete
part_of	GO:0062023	collagen-containing extracellular matrix	PMID:28327460^[1]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(CL:0002540)	Seeded From UniProt	complete
enables	GO:0005201	extracellular matrix structural constituent	PMID:23979707^[2]	ECO:0007666	automatically integrated combinatorial computational and experimental evidence used in manual assertion		F	occurs_in:(CL:0002543)	Seeded From UniProt	complete
enables	GO:0005201	extracellular matrix structural constituent	PMID:27559042^[3]	ECO:0007666	automatically integrated combinatorial computational and experimental evidence used in manual assertion		F	occurs_in:(UBERON:0006618) occurs_in:(UBERON:0002302)	Seeded From UniProt	complete
enables	GO:0005201	extracellular matrix structural constituent	PMID:20551380^[4]	ECO:0007666	automatically integrated combinatorial computational and experimental evidence used in manual assertion		F	occurs_in:(UBERON:0001496)	Seeded From UniProt	complete
enables	GO:0005201	extracellular matrix structural constituent	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O11780	F	occurs_in:(UBERON:0002084)	Seeded From UniProt	complete
part_of	GO:0062023	collagen-containing extracellular matrix	PMID:28675934^[5]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0003688)\|part_of:(UBERON:0001911)	Seeded From UniProt	complete
enables	GO:0005201	extracellular matrix structural constituent	PMID:28675934^[5]	ECO:0007666	automatically integrated combinatorial computational and experimental evidence used in manual assertion		F	occurs_in:(UBERON:0003688)\|occurs_in:(UBERON:0001911)	Seeded From UniProt	complete
part_of	GO:0062023	collagen-containing extracellular matrix	PMID:25037231^[6]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0002107)	Seeded From UniProt	complete
enables	GO:0005201	extracellular matrix structural constituent	PMID:25037231^[6]	ECO:0007666	automatically integrated combinatorial computational and experimental evidence used in manual assertion		F	occurs_in:(UBERON:0001155)	Seeded From UniProt	complete
part_of	GO:0062023	collagen-containing extracellular matrix	PMID:25037231^[6]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001155)	Seeded From UniProt	complete
enables	GO:0005201	extracellular matrix structural constituent	PMID:25037231^[6]	ECO:0007666	automatically integrated combinatorial computational and experimental evidence used in manual assertion		F	occurs_in:(UBERON:0002107)	Seeded From UniProt	complete
part_of	GO:0005576	extracellular region	PMID:27068509^[7]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0007318)	Seeded From UniProt	complete
part_of	GO:0062023	collagen-containing extracellular matrix	PMID:23979707^[2]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(CL:0002543)	Seeded From UniProt	complete
part_of	GO:0062023	collagen-containing extracellular matrix	PMID:27559042^[3]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0006618) part_of:(UBERON:0002302)	Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:19199708^[8]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001831)	Seeded From UniProt	complete
colocalizes_with	GO:0062023	collagen-containing extracellular matrix	PMID:20551380^[4]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001496)	Seeded From UniProt	complete
colocalizes_with	GO:0062023	collagen-containing extracellular matrix	PMID:22261194^[9]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O11780	C		Seeded From UniProt	complete
part_of	GO:0005802	trans-Golgi network	PMID:19478074^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:19478074^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005518	collagen binding	PMID:19478074^[10]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:A8TX70	F		Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:21362503^[11]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(CL:0002367)	Seeded From UniProt	complete
involved_in	GO:0001525	angiogenesis	PMID:11866539^[12]	ECO:0000270	expression pattern evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0050839	cell adhesion molecule binding	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0262742 PANTHER:PTN000855676	F		Seeded From UniProt	complete
part_of	GO:0031012	extracellular matrix	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1926321 MGI:MGI:99959 PANTHER:PTN000855676	C		Seeded From UniProt	complete
involved_in	GO:0030198	extracellular matrix organization	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1926321 MGI:MGI:99959 PANTHER:PTN000855676	P		Seeded From UniProt	complete
involved_in	GO:0007155	cell adhesion	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1926321 MGI:MGI:99959 PANTHER:PTN000855676 UniProtKB:Q15063	P		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:99959 PANTHER:PTN000096377 RGD:1305285 UniProtKB:Q15582	C		Seeded From UniProt	complete
part_of	GO:0005604	basement membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:D4A8G5 ensembl:ENSRNOP00000016389	C		Seeded From UniProt	complete
involved_in	GO:0002062	chondrocyte differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:D4A8G5 ensembl:ENSRNOP00000016389	P		Seeded From UniProt	complete
enables	GO:0050840	extracellular matrix binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P82198 ensembl:ENSMUSP00000037719	F		Seeded From UniProt	complete
part_of	GO:0031012	extracellular matrix	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P82198 ensembl:ENSMUSP00000037719	C		Seeded From UniProt	complete
involved_in	GO:0030198	extracellular matrix organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P82198 ensembl:ENSMUSP00000037719	P		Seeded From UniProt	complete
involved_in	GO:0007155	cell adhesion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P82198 ensembl:ENSMUSP00000037719	P		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P82198 ensembl:ENSMUSP00000037719	C		Seeded From UniProt	complete
enables	GO:0005178	integrin binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR032954	F		Seeded From UniProt	complete
enables	GO:0005518	collagen binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR032954	F		Seeded From UniProt	complete
involved_in	GO:0007155	cell adhesion	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR032954	P		Seeded From UniProt	complete
involved_in	GO:0008283	cell population proliferation	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR032954	P		Seeded From UniProt	complete
enables	GO:0050840	extracellular matrix binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR032954	F		Seeded From UniProt	complete
involved_in	GO:0008283	cell population proliferation	PMID:1388724^[14]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007601	visual perception	PMID:9463327^[15]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007162	negative regulation of cell adhesion	PMID:8024701^[16]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:1388724^[14]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005178	integrin binding	PMID:1388724^[14]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0044267	cellular protein metabolic process	Reactome:R-HSA-392499	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-HSA-977136 Reactome:R-HSA-976734	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005576	extracellular region	Reactome:R-HSA-977136	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0007155	cell adhesion	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0130	P		Seeded From UniProt	complete
part_of	GO:0005576	extracellular region	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0964 UniProtKB-SubCell:SL-0243	C		Seeded From UniProt	complete
involved_in	GO:0050896	response to stimulus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0716	P		Seeded From UniProt	complete
involved_in	GO:0007601	visual perception	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0844	P		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Ragelle, H et al. (2017) Comprehensive proteomic characterization of stem cell-derived extracellular matrices. Biomaterials 128 147-159 PubMed GONUTS page
↑ ^2.0 ^2.1 Zanivan, S et al. (2013) SILAC-based proteomics of human primary endothelial cell morphogenesis unveils tumor angiogenic markers. Mol. Cell Proteomics 12 3599-611 PubMed GONUTS page
↑ ^3.0 ^3.1 Barallobre-Barreiro, J et al. (2016) Glycoproteomics Reveals Decorin Peptides With Anti-Myostatin Activity in Human Atrial Fibrillation. Circulation 134 817-32 PubMed GONUTS page
↑ ^4.0 ^4.1 Didangelos, A et al. (2010) Proteomics characterization of extracellular space components in the human aorta. Mol. Cell Proteomics 9 2048-62 PubMed GONUTS page
↑ ^5.0 ^5.1 Naba, A et al. (2017) Characterization of the Extracellular Matrix of Normal and Diseased Tissues Using Proteomics. J. Proteome Res. 16 3083-3091 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 Naba, A et al. (2014) Extracellular matrix signatures of human primary metastatic colon cancers and their metastases to liver. BMC Cancer 14 518 PubMed GONUTS page
↑ Barallobre-Barreiro, J et al. (2016) Extracellular matrix remodelling in response to venous hypertension: proteomics of human varicose veins. Cardiovasc. Res. 110 419-30 PubMed GONUTS page
↑ Gonzalez-Begne, M et al. (2009) Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). J. Proteome Res. 8 1304-14 PubMed GONUTS page
↑ Barallobre-Barreiro, J et al. (2012) Proteomics analysis of cardiac extracellular matrix remodeling in a porcine model of ischemia/reperfusion injury. Circulation 125 789-802 PubMed GONUTS page
↑ ^10.0 ^10.1 ^10.2 Kim, BY et al. (2009) Corneal dystrophy-associated R124H mutation disrupts TGFBI interaction with Periostin and causes mislocalization to the lysosome. J. Biol. Chem. 284 19580-91 PubMed GONUTS page
↑ Stamer, WD et al. (2011) Protein profile of exosomes from trabecular meshwork cells. J Proteomics 74 796-804 PubMed GONUTS page
↑ Aitkenhead, M et al. (2002) Identification of endothelial cell genes expressed in an in vitro model of angiogenesis: induction of ESM-1, (beta)ig-h3, and NrCAM. Microvasc. Res. 63 159-71 PubMed GONUTS page
↑ ^13.0 ^13.1 ^13.2 ^13.3 ^13.4 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ ^14.0 ^14.1 ^14.2 Skonier, J et al. (1992) 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. DNA Cell Biol. 11 511-22 PubMed GONUTS page
↑ Korvatska, E et al. (1998) Mutation hot spots in 5q31-linked corneal dystrophies. Am. J. Hum. Genet. 62 320-4 PubMed GONUTS page
↑ Skonier, J et al. (1994) beta ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice. DNA Cell Biol. 13 571-84 PubMed GONUTS page

[PMID:28327460-1] 1.0 ^1.1 Ragelle, H et al. (2017) Comprehensive proteomic characterization of stem cell-derived extracellular matrices. Biomaterials 128 147-159 PubMed GONUTS page

[PMID:23979707-2] 2.0 ^2.1 Zanivan, S et al. (2013) SILAC-based proteomics of human primary endothelial cell morphogenesis unveils tumor angiogenic markers. Mol. Cell Proteomics 12 3599-611 PubMed GONUTS page

[PMID:27559042-3] 3.0 ^3.1 Barallobre-Barreiro, J et al. (2016) Glycoproteomics Reveals Decorin Peptides With Anti-Myostatin Activity in Human Atrial Fibrillation. Circulation 134 817-32 PubMed GONUTS page

[PMID:20551380-4] 4.0 ^4.1 Didangelos, A et al. (2010) Proteomics characterization of extracellular space components in the human aorta. Mol. Cell Proteomics 9 2048-62 PubMed GONUTS page

[PMID:28675934-5] 5.0 ^5.1 Naba, A et al. (2017) Characterization of the Extracellular Matrix of Normal and Diseased Tissues Using Proteomics. J. Proteome Res. 16 3083-3091 PubMed GONUTS page

[PMID:25037231-6] 6.0 ^6.1 ^6.2 ^6.3 Naba, A et al. (2014) Extracellular matrix signatures of human primary metastatic colon cancers and their metastases to liver. BMC Cancer 14 518 PubMed GONUTS page

[PMID:27068509-7] Barallobre-Barreiro, J et al. (2016) Extracellular matrix remodelling in response to venous hypertension: proteomics of human varicose veins. Cardiovasc. Res. 110 419-30 PubMed GONUTS page

[PMID:19199708-8] Gonzalez-Begne, M et al. (2009) Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). J. Proteome Res. 8 1304-14 PubMed GONUTS page

[PMID:22261194-9] Barallobre-Barreiro, J et al. (2012) Proteomics analysis of cardiac extracellular matrix remodeling in a porcine model of ischemia/reperfusion injury. Circulation 125 789-802 PubMed GONUTS page

[PMID:19478074-10] 10.0 ^10.1 ^10.2 Kim, BY et al. (2009) Corneal dystrophy-associated R124H mutation disrupts TGFBI interaction with Periostin and causes mislocalization to the lysosome. J. Biol. Chem. 284 19580-91 PubMed GONUTS page

[PMID:21362503-11] Stamer, WD et al. (2011) Protein profile of exosomes from trabecular meshwork cells. J Proteomics 74 796-804 PubMed GONUTS page

[PMID:11866539-12] Aitkenhead, M et al. (2002) Identification of endothelial cell genes expressed in an in vitro model of angiogenesis: induction of ESM-1, (beta)ig-h3, and NrCAM. Microvasc. Res. 63 159-71 PubMed GONUTS page

[PMID:21873635-13] 13.0 ^13.1 ^13.2 ^13.3 ^13.4 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:1388724-14] 14.0 ^14.1 ^14.2 Skonier, J et al. (1992) 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. DNA Cell Biol. 11 511-22 PubMed GONUTS page

[PMID:9463327-15] Korvatska, E et al. (1998) Mutation hot spots in 5q31-linked corneal dystrophies. Am. J. Hum. Genet. 62 320-4 PubMed GONUTS page

[PMID:8024701-16] Skonier, J et al. (1994) beta ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice. DNA Cell Biol. 13 571-84 PubMed GONUTS page

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HUMAN:BGH3

Contents

Annotations

Notes

References

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