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TTR transthyretin [ Homo sapiens (human) ]

Gene ID: 7276, updated on 17-Apr-2020

Summary

Official Symbol
TTRprovided by HGNC
Official Full Name
transthyretinprovided by HGNC
Primary source
HGNC:HGNC:12405
See related
Ensembl:ENSG00000118271 MIM:176300
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; ATTR; CTS1; PALB; TBPA; HEL111; HsT2651
Summary
This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]
Expression
Restricted expression toward liver (RPKM 2070.5) See more
Orthologs

Genomic context

See TTR in Genome Data Viewer
Location:
18q12.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (31591877..31598821)
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 VISTA enhancer hs2166 Neighboring gene desmoglein 2 Neighboring gene DSG2 antisense RNA 1 Neighboring gene beta-1,4-galactosyltransferase 6 Neighboring gene leucine rich repeat containing 37 member A7, pseudogene Neighboring gene RN7SK pseudogene 44

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
purine nucleobase metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
retinol metabolic process IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transthyretin
Names
epididymis luminal protein 111
prealbumin, amyloidosis type I
thyroxine-binding prealbumin

NCBI Reference Sequences (RefSeq)

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_000371.4NP_000362.1  transthyretin precursor

    See identical proteins and their annotated locations for NP_000362.1

    Status: REVIEWED

    Source sequence(s)
    BC020791
    Consensus CDS
    CCDS11899.1
    UniProtKB/Swiss-Prot
    P02766
    UniProtKB/TrEMBL
    E9KL36
    Related
    ENSP00000237014.3, ENST00000237014.7
    Conserved Domains (1) summary
    smart00095
    Location:27147
    TR_THY; Transthyretin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    31591877..31598821
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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