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TTR transthyretin [ Homo sapiens (human) ]

Gene ID: 7276, updated on 23-May-2015
Official Symbol
TTRprovided by HGNC
Official Full Name
transthyretinprovided by HGNC
Primary source
HGNC:HGNC:12405
See related
Ensembl:ENSG00000118271; HPRD:01447; MIM:176300; Vega:OTTHUMG00000131984
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CTS; CTS1; PALB; TBPA; HEL111; HsT2651
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]
Orthologs
See TTR in MapViewer
Location:
18q12.1
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 18 NC_000018.10 (31591767..31599024)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (29171730..29178987)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene desmoglein 2 Neighboring gene uncharacterized LOC105372051 Neighboring gene DSG2 antisense RNA 1 Neighboring gene UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 Neighboring gene uncharacterized LOC105372052 Neighboring gene leucine rich repeat containing 37, member A7, pseudogene Neighboring gene golgi SNAP receptor complex member 2 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Amyloidogenic transthyretin amyloidosis Compare labs
Carpal tunnel syndrome
MedGen: C0007286 OMIM: 115430 GeneReviews: Not available
Compare labs
Dystransthyretinemic euthyroidal hyperthyroxinemia
MedGen: C2750824 OMIM: 145680 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of circulating retinol levels.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced downregulation of transthyretin (TTR) in primary human brain microvascular endothelial cells PubMed
tat The DNA repair gene DNA-PKcs and cell cycle-related genes Cdc20, Cdc25C, KIF2C and CTS1 are downregulated in HIV-1 Tat-expressing human rhabdomyosarcoma cells PubMed

Go to the HIV-1, Human Interaction Database

  • Amyloids, organism-specific biosystem (from REACTOME)
    Amyloids, organism-specific biosystemAmyloid is a term used to describe typically extracellular deposits of aggregated proteins, sometimes known as plaques. Abnormal accumulation of amyloid is amyloidosis, a term associated with disease...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with visual transduction, organism-specific biosystem (from REACTOME)
    Diseases associated with visual transduction, organism-specific biosystemThe process of vision involves two stages; the retinoid cycle which supplies and regenerates the visual chromophore required for vision and phototransduction which propagates the light signal. Defect...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
    FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
    FOXA2 and FOXA3 transcription factor networks
  • Non-integrin membrane-ECM interactions, organism-specific biosystem (from REACTOME)
    Non-integrin membrane-ECM interactions, organism-specific biosystemSeveral non-integrin membrane proteins interact with extracellular matrix proteins. Transmembrane proteoglycans may associate with integrins and growth factor receptors to influence their function, o...
  • Retinoid cycle disease events, organism-specific biosystem (from REACTOME)
    Retinoid cycle disease events, organism-specific biosystemThe gene defects which cause diseases related to the retinoid cycle are described here (Travis et al. 2007, Palczewski 2010, Fletcher et al. 2011, den Hollander et al. 2008).
  • Retinoid metabolism and transport, organism-specific biosystem (from REACTOME)
    Retinoid metabolism and transport, organism-specific biosystemVitamin A (all-trans-retinol) must be taken up, either as carotenes from plants, or as retinyl esters from animal food. The most prominent carotenes are alpha-carotene, lycopene, lutein, beta-cryptox...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • The canonical retinoid cycle in rods (twilight vision), organism-specific biosystem (from REACTOME)
    The canonical retinoid cycle in rods (twilight vision), organism-specific biosystemThe retinoid cycle (also referred to as the visual cycle) is the process by which the visual chromophore 11-cis-retinal (11cRAL) is released from light-activated opsins in the form all-trans-retinal ...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hormone activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
extracellular matrix organization TAS
Traceable Author Statement
more info
 
phototransduction, visible light TAS
Traceable Author Statement
more info
 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
retinol metabolic process IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone transport IEA
Inferred from Electronic Annotation
more info
 
transport NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
protein complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
transthyretin
Names
transthyretin
ATTR
carpal tunnel syndrome 1
epididymis luminal protein 111
prealbumin, amyloidosis type I
thyroxine-binding prealbumin

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009490.1 RefSeqGene

    Range
    5001..12258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_416

mRNA and Protein(s)

  1. NM_000371.3NP_000362.1  transthyretin precursor

    See identical proteins and their annotated locations for NP_000362.1

    Status: REVIEWED

    Source sequence(s)
    BC020791, CA948224, DB498675
    Consensus CDS
    CCDS11899.1
    UniProtKB/TrEMBL
    E9KL36
    UniProtKB/Swiss-Prot
    P02766
    Related
    ENSP00000237014, OTTHUMP00000162827, ENST00000237014, OTTHUMT00000254948
    Conserved Domains (1) summary
    cd05821
    Location:24144
    TLP_Transthyretin; Transthyretin (TTR) is a 55 kDa protein responsible for the transport of thyroid hormones and retinol in vertebrates. TTR distributes the two thyroid hormones T3 (3,5,3'-triiodo-L-thyronine) and T4 (Thyroxin, or 3,5,3',5' ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p2 Primary Assembly

    Range
    31591767..31599024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018929.2 Alternate CHM1_1.1

    Range
    29099038..29106294
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)