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Details on Person UniProt:Q15582 TGFBI

Class:Id	ReferenceGeneProduct:50810
_chainChangeLog	signal peptide:1-23 added on Sat February 7 2015;chain:24-683 added on Sat February 7 2015
_displayName	UniProt:Q15582 TGFBI
_timestamp	2024-11-03 20:09:00
chain	signal peptide:1-23 chain:24-683
checksum	40FDC8A71EBB3D00
comment	FUNCTION Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (By similarity).SUBUNIT Binds to type I, II, and IV collagens.INTERACTION May be associated both with microfibrils and with the cell surface (PubMed:8077289).TISSUE SPECIFICITY Highly expressed in the corneal epithelium (PubMed:27609313, PubMed:8077289). Expressed in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas (PubMed:8077289).INDUCTION By TGF-beta (PubMed:1388724, PubMed:8024701).PTM 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).PTM 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.
description	recommendedName: Transforming growth factor-beta-induced protein ig-h3 shortName: Beta ig-h3 alternativeName: Kerato-epithelin alternativeName: RGD-containing collagen-associated protein shortName: RGD-CAP
geneName	TGFBI BIGH3
identifier	Q15582
isSequenceChanged	FALSE
keyword	3D-structure Amyloid Amyloidosis Cell adhesion Corneal dystrophy Direct protein sequencing Disease variant Disulfide bond Extracellular matrix Gamma-carboxyglutamic acid Phosphoprotein Proteomics identification Reference proteome Repeat Secreted Sensory transduction Signal Vision
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
name	TGFBI
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:9003403] ENSEMBL:ENSG00000120708 TGFBI [Homo sapiens]
secondaryIdentifier	BGH3_HUMAN D3DQB1 O14471 O14472 O14476 O43216 O43217 O43218 O43219 Q53XM1
sequenceLength	683
species	[Species:48887] Homo sapiens
(referenceEntity)	[EntityWithAccessionedSequence:204605] TGFBI [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:1302722] TGFBI [extracellular region] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q15582 TGFBI (50810)