InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: TTR

Summary

InnateDB Gene

IDBG-2092.6

Last Modified

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

Gene Symbol

TTR

Gene Name

transthyretin

Synonyms

CTS; CTS1; HEL111; HsT2651; PALB; TBPA

Species

Homo sapiens

Ensembl Gene

ENSG00000118271

Encoded Proteins

IDBP-2094

transthyretin

IDBP-811498

transthyretin

IDBP-811500

transthyretin

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq, Jan 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 18:31591726-31599021

Strand

Forward strand

Band

q12.1

Transcripts

ENST00000237014	ENSP00000237014
ENST00000432547
ENST00000541025
ENST00000610404	ENSP00000477599
ENST00000613781	ENSP00000479174

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 80 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	80 [view]
Protein-Protein	79 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005179	hormone activity
GO:0005515	protein binding
GO:0042562	hormone binding
GO:0042802	identical protein binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0001523	retinoid metabolic process
GO:0006810	transport
GO:0007603	phototransduction, visible light
GO:0030198	extracellular matrix organization
GO:0042572	retinol metabolic process