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    TTR transthyretin [ Homo sapiens ]

    Gene ID: 7276, updated on 5-Feb-2012
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    Summary

    Official Symbol
    TTRprovided by HGNC
    Official Full Name
    transthyretinprovided by HGNC
    Primary source
    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; 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]
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    Genomic context

    Location :
    18q12.1
    Sequence :
    Chromosome: 18; NC_000018.9 (29171730..29178987)
    See TTR in Epigenomics, MapViewer

    Chromosome 18 - NC_000018.9Genomic Context describing neighboring genes Neighboring gene desmoglein 3 Neighboring gene desmoglein 2 Neighboring gene uncharacterized LOC100652770 Neighboring gene UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 Neighboring gene uncharacterized LOC646778

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Strong transthyretin immunostaining: potential pitfall in cardiac amyloid typing. Satoskar AA, et al. Am J Surg Pathol, 2011 Nov. PMID 21945954.
    2. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    3. Neuronal production of transthyretin in human and murine Alzheimer's disease: is it protective? Li X, et al. J Neurosci, 2011 Aug 31. PMID 21880910.
    4. Correlation of misfolded transthyretin in abnormal vitreous and high myopia related ocular pathologies. Shao J, et al. Clin Chim Acta, 2011 Nov 20. PMID 21821015.
    5. Effect of the N-terminal sequence on the binding affinity of transthyretin for human retinol-binding protein. Leelawatwattana L, et al. FEBS J, 2011 Sep. PMID 21777382.

    See all (322) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Data show that leptin is better than any other biological parameter for monitoring the efficacy of renutrition, including albumin, transthyretin, leptin, IGFBP-1, IGFBP-3 and IGF-1.
      Title: Leptin is better than any other biological parameter for monitoring the efficacy of renutrition in hospitalized malnourished elderly patients.
    2. This study indicated that the mutation of transthyretin at Ala97Ser was a new mutation only reported in ethnic Taiwanese.
      Title: Amyloid neuropathy with transthyretin mutations: overview and unique Ala97Ser in Taiwan.
    3. Recurrence of amyloid deposition only occurred in nonextensive vitrectomized eyes and represents a false recurrence associated with incomplete vitrectomy.
      Title: Recurrence of vitreous amyloidosis and need of surgical reintervention in Portuguese patients with familial amyloidosis ATTR V30M.
    4. Strong, false-positive immunostaining for transthyretin in cardiac amyloid is a potential pitfall, augmented by the frequent lack of staining for immunoglobulin light chains.
      Title: Strong transthyretin immunostaining: potential pitfall in cardiac amyloid typing.
    5. wild-type transthyretin deposition is a common cause of carpal tunnel syndrome in elderly men.
      Title: High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly.
    6. investigation of determinants of binding affinity between transthyretin and retinol-binding protein: importance of N-terminal sequence of transthyretin; length and hydrophobicity of N-terminal sequence are important determinants of binding affinity
      Title: Effect of the N-terminal sequence on the binding affinity of transthyretin for human retinol-binding protein.
    7. This study demonistrated that increased TTR production coupled with interaction between TTR and Abeta and/or its related peptides may play a role in natural resistance to human AD.
      Title: Neuronal production of transthyretin in human and murine Alzheimer's disease: is it protective?
    8. we identify the clinical characteristics of a Chinese family affected by transthyretin-related hereditary amyloidosis with TTR Tyr114Cys mutation.
      Title: Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation.
    9. the most common variant of cardiac amyloidosis is caused by mutations in the transthyretin gene
      Title: [Familial approach in hereditary transthyretin cardiac amyloidosis].
    10. Serum TTR may be a biomarker for high myopia patients with ocular pathologies.
      Title: Vitreous and serum levels of transthyretin (TTR) in high myopia patients are correlated with ocular pathologies.
    Submit: New GeneRIF Correction See all (173)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Amyloid neuropathy, familial, several allelic types

    Amyloidosis, hereditary, transthyretin-related

    Carpal tunnel syndrome, familial

    Dystransthyretinemic hyperthyroxinemia

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000362.1     BIND  PubMed TTR interacts with Compound 12. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 16. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 17. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 18. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 10. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 9. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 3. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 11. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 13. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 14. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 15. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 19. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 20. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 21. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 22. 
    NP_000362.1     BIND  PubMed TTR interacts with Compound 1. 
    P02766 Q15109 AGER    HPRD  PubMed  
    P02766 P02647 APOA1    HPRD  PubMed  
    P02766 P18848 ATF4    HPRD  PubMed  
    P02766 Q12873 CHD3    HPRD  PubMed  
    P02766 Q08345 DDR1    HPRD  PubMed  
    P02766 P68104 EEF1A1    HPRD  PubMed  
    P02766 Q99689 FEZ1    HPRD  PubMed  
    P02766 Q7L5D6 GET4    HPRD  PubMed  
    P02766 P31942 HNRNPH3    HPRD  PubMed  
    P02766 P98160 HSPG2    HPRD  PubMed  
    P02766 O95163 IKBKAP    HPRD  PubMed  
    P02766 P98164 LRP2    HPRD  PubMed  
    P02766 P27448 MARK3    HPRD  PubMed  
    P02766 Q92561 PHYHIP    HPRD  PubMed  
    P02766 P02753 RBP4    HPRD  PubMed  
    P02766 Q15047 SETDB1    HPRD  PubMed  
    P02766 Q11203 ST3GAL3    HPRD  PubMed  
    P02766 P02766 TTR    HPRD  PubMed  
    P02766 P08670 VIM    HPRD  PubMed  
    BioGRID:113127 BioGRID:106524 A2M    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:106575 ACTB    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:106931 ASNA1    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:106958 ATF4    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:113647 BAG6    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:116332 C14orf1    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:107532 CHD3    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:114763 CPNE6    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:107882 CTNND2    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:107234 DDR1    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:108237 EEF1A1    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:114997 FEZ1    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:119636 GET4    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:109430 HNRNPH3    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:109571 HSPG2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:113127 BioGRID:114090 IKBKAP    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:119720 INPP5K    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:121617 KIAA1377    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:110310 MARK3    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:110870 NGFR    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:120751 OTUB1    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:115139 PHYHIP    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:111313 PIK3R1    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:111570 PRKCI    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:111797 QARS    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:115966 RAI1    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:111884 RBP4    BioGRID  PubMed Co-purification 
    BioGRID:113127 BioGRID:119334 SDF4    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:115202 SETDB1    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:109657 SP110    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:112644 ST13    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:112496 SUMO3    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:114482 TAF1C    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:117998 TAF5L    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:113127 TTR    BioGRID  PubMed Co-crystal Structure 
    BioGRID:113127 BioGRID:113603 TUBA1A    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:113272 VIM    BioGRID  PubMed Two-hybrid 
    BioGRID:113127 BioGRID:114626 ZBED1    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • 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 ...
    • 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hormone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    hormone binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    transthyretin
    Names
    transthyretin
    ATTR
    carpal tunnel syndrome 1
    thyroxine-binding prealbumin
    prealbumin, amyloidosis type I
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    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)

    mRNA and Protein(s)

    1. NM_000371.3 → NP_000362.1  transthyretin precursor

      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:24 – 144
      Blast Score: 570
      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'-tetraiodo-L-thyronine), as well ...

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000018.9 Reference GRCh37.p5 Primary Assembly

      Range
      29171730..29178987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000150.1 Alternate HuRef

      Range
      26028609..26035866
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC079096.4 (98754..105697) None
    genomic AF485253.1 AAL92042.1
    genomic AF485254.1 AAL92043.1
    genomic CH471088.1 EAX01264.1
      EAX01265.1
      EAX01266.1
    genomic M11518.1 AAA98771.1
    genomic M11844.1 AAA60013.1
    genomic M15515.1 AAA60018.1
    genomic M63285.1 AAA36784.1
    genomic S63185.1 AAD14937.2
    genomic S72385.1 AAD14098.1
    genomic S81436.1 AAB36045.1
    mRNA AF162690.1 AAD45014.1
    mRNA AK312051.1 BAG34987.1
    mRNA BC005310.1 AAH05310.1
    mRNA BC020791.1 AAH20791.1
    mRNA BT007189.1 AAP35853.1
    mRNA CA948224.1 None
    mRNA CR456908.1 CAG33189.1
    mRNA D00096.1 BAA00059.1
    mRNA DB498675.1 None
    mRNA DQ839490.1 ABI63351.1
    mRNA GU727633.1 ADU87635.1
    mRNA K02091.1 AAA60011.1
    mRNA M10605.1 AAA60012.1
    mRNA M11714.1 AAA61181.1
    mRNA U19780.1 AAA73473.1
    mRNA X59498.1 CAA42087.1
    other-genetic JF432547.1 ADZ15764.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    P02766.1 GenPept UniProtKB/Swiss-Prot:P02766
    Q53WY6 GenPept UniProtKB/TrEMBL:Q53WY6
    Q8TDB1 GenPept UniProtKB/TrEMBL:Q8TDB1
    Q8TDB2 GenPept UniProtKB/TrEMBL:Q8TDB2
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

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