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    TTR transthyretin [ Homo sapiens (human) ]

    Gene ID: 7276, updated on 26-Feb-2024

    Summary

    Official Symbol
    TTRprovided by HGNC
    Official Full Name
    transthyretinprovided by HGNC
    Primary source
    HGNC:HGNC:12405
    See related
    Ensembl:ENSG00000118271 MIM:176300; AllianceGenome:HGNC:12405
    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; TTN; 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
    NEW
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    Try the new Transcript table

    Genomic context

    See TTR in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31591877..31598821)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31782391..31789335)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (29171840..29178784)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene desmoglein 3 Neighboring gene VISTA enhancer hs2166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13197 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13199 Neighboring gene NANOG hESC enhancer GRCh37_chr18:29096289-29096832 Neighboring gene desmoglein 2 Neighboring gene DSG2 antisense RNA 1 Neighboring gene uncharacterized LOC124904277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13200 Neighboring gene beta-1,4-galactosyltransferase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13204 Neighboring gene uncharacterized LOC124904361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9385 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables thyroid hormone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in purine nucleobase metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction 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)

    NEW Try the new Transcript table

    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, Q549C7, Q6IB96, Q9UBZ6, Q9UCM9
      UniProtKB/TrEMBL
      A6XMH1, E9KL36
      Related
      ENSP00000237014.4, ENST00000237014.8
      Conserved Domains (1) summary
      smart00095
      Location:27147
      TR_THY; Transthyretin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      31782391..31789335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)