InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LTBP3

Summary

InnateDB Protein

IDBP-57142.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LTBP3

Protein Name

latent transforming growth factor beta binding protein 3

Synonyms

LTBP-3; LTBP2; pp6425; STHAG6;

Species

Homo sapiens

Ensembl Protein

ENSP00000301873

InnateDB Gene

IDBG-57140 (LTBP3)

Protein Structure

UniProt Annotation

Function

May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extra cellular matrix (ECM).

Subcellular Localization

Secreted {ECO:0000250}. Note=Secretion occurs after coexpression with TGFB1 and requires complexing with 'Cys-33' of the TGFB1 propeptide. {ECO:0000250}.

Disease Associations

Tooth agenesis selective 6 (STHAG6) [MIM:613097]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). In tooth agenesis selective type 6, alveolar bone is absent where the teeth are missing. Some individuals have short stature. {ECO:0000269PubMed:19344874}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform 2 is expressed prominently in heart, skeletal muscle, prostate, testis, small intestine and ovary. Isoform 1 is strongly expressed in pancreas and liver.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0050431	transforming growth factor beta binding

Biological Process

GO:0001501	skeletal system development
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0030198	extracellular matrix organization
GO:0030502	negative regulation of bone mineralization
GO:0032331	negative regulation of chondrocyte differentiation
GO:0036363	transforming growth factor beta activation
GO:0045780	positive regulation of bone resorption
GO:0046849	bone remodeling
GO:0060349	bone morphogenesis
GO:0060430	lung saccule development
GO:1902462	positive regulation of mesenchymal stem cell proliferation
GO:2000741	positive regulation of mesenchymal stem cell differentiation