InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TGFB3

Summary

InnateDB Protein

IDBP-13147.6

Last Modified

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

Gene Symbol

TGFB3

Protein Name

transforming growth factor, beta 3

Synonyms

ARVD; ARVD1; RNHF; TGF-beta3;

Species

Homo sapiens

Ensembl Protein

ENSP00000238682

InnateDB Gene

IDBG-13145 (TGFB3)

Protein Structure

UniProt Annotation

Function

Involved in embryogenesis and cell differentiation.

Subcellular Localization

Secreted.

Disease Associations

Arrhythmogenic right ventricular dysplasia, familial, 1 (ARVD1) [MIM:107970]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269PubMed:15639475}. Note=The disease is caused by mutations affecting the gene represented in this entry.Rienhoff syndrome (RNHF) [MIM:615582]: A congenital syndrome characterized by abnormal development of several mesenchymal-derived tissues, including muscle and craniopalatofacial structures, accompanied by low muscle mass, growth retardation, distal arthrogryposis. Additional clinical features include arachnodactyly, pectus excavatum, pes planus, and hyperextensible large joints, as well as hypertelorism and bifid uvula. There is no evidence of vascular disease. {ECO:0000269PubMed:23824657}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.

Experimentally validated
Total	16 [view]
Protein-Protein	15 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005114	type II transforming growth factor beta receptor binding
GO:0005160	transforming growth factor beta receptor binding
GO:0005515	protein binding
GO:0008083	growth factor activity
GO:0034713	type I transforming growth factor beta receptor binding
GO:0042802	identical protein binding
GO:0046982	protein heterodimerization activity
GO:0050431	transforming growth factor beta binding

Biological Process

GO:0000187	activation of MAPK activity
GO:0001666	response to hypoxia
GO:0001701	in utero embryonic development
GO:0002576	platelet degranulation
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0007184	SMAD protein import into nucleus
GO:0007435	salivary gland morphogenesis
GO:0007565	female pregnancy
GO:0007568	aging
GO:0007596	blood coagulation
GO:0008156	negative regulation of DNA replication
GO:0008285	negative regulation of cell proliferation
GO:0009887	organ morphogenesis
GO:0010718	positive regulation of epithelial to mesenchymal transition
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0010936	negative regulation of macrophage cytokine production
GO:0016049	cell growth
GO:0022601	menstrual cycle phase
GO:0030168	platelet activation
GO:0030198	extracellular matrix organization
GO:0030501	positive regulation of bone mineralization
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030879	mammary gland development
GO:0032570	response to progesterone
GO:0032967	positive regulation of collagen biosynthetic process
GO:0034616	response to laminar fluid shear stress
GO:0040007	growth
GO:0042060	wound healing
GO:0042476	odontogenesis
GO:0043065	positive regulation of apoptotic process
GO:0043524	negative regulation of neuron apoptotic process
GO:0043627	response to estrogen
GO:0043932	ossification involved in bone remodeling
GO:0045216	cell-cell junction organization
GO:0045740	positive regulation of DNA replication
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048286	lung alveolus development
GO:0048565	digestive tract development
GO:0048702	embryonic neurocranium morphogenesis
GO:0048839	inner ear development
GO:0050714	positive regulation of protein secretion
GO:0051491	positive regulation of filopodium assembly
GO:0051781	positive regulation of cell division
GO:0060021	palate development
GO:0060325	face morphogenesis
GO:0060364	frontal suture morphogenesis
GO:0060391	positive regulation of SMAD protein import into nucleus
GO:0070483	detection of hypoxia
GO:0071363	cellular response to growth factor stimulus

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0009986	cell surface
GO:0030141	secretory granule
GO:0030315	T-tubule
GO:0031012	extracellular matrix
GO:0031093	platelet alpha granule lumen
GO:0043025	neuronal cell body

Protein Structure and Domains

PDB ID

InterPro

IPR001111 Transforming growth factor-beta, N-terminal
IPR001839 Transforming growth factor-beta, C-terminal
IPR015618 Transforming growth factor beta 3
IPR016319 Transforming growth factor-beta
IPR029034 Cystine-knot cytokine

PFAM

PF00688
PF00019

PRINTS

PR01426
PR01423

PIRSF

PIRSF001787

SMART

SM00204

TIGRFAMs

Post-translational Modifications

Modification

Cross-References