LOCUS       NM_000371                616 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens transthyretin (TTR), mRNA.
ACCESSION   NM_000371
VERSION     NM_000371.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 616)
  AUTHORS   Costa-Rodrigues,D., Leite,J.P., Saraiva,M.J., Almeida,M.R. and
            Gales,L.
  TITLE     Transthyretin monomers: a new plasma biomarker for pre-symptomatic
            transthyretin-related amyloidosis
  JOURNAL   Amyloid 31 (3), 202-208 (2024)
   PUBMED   38946492
  REMARK    GeneRIF: Transthyretin monomers: a new plasma biomarker for
            pre-symptomatic transthyretin-related amyloidosis.
REFERENCE   2  (bases 1 to 616)
  AUTHORS   Jager,M., Kelly,J.W. and Gruebele,M.
  TITLE     Conservation of kinetic stability, but not the unfolding mechanism,
            between human transthyretin and a transthyretin-related enzyme
  JOURNAL   Proc Natl Acad Sci U S A 121 (34), e2315007121 (2024)
   PUBMED   39133861
  REMARK    GeneRIF: Conservation of kinetic stability, but not the unfolding
            mechanism, between human transthyretin and a transthyretin-related
            enzyme.
REFERENCE   3  (bases 1 to 616)
  AUTHORS   Leach,B.I., Ferguson,J.A., Morgan,G., Sun,X., Kroon,G., Oyen,D.,
            Dyson,H.J. and Wright,P.E.
  TITLE     Conformational Dynamics of an Amyloidogenic Intermediate of
            Transthyretin: Implications for Structural Remodeling and Amyloid
            Formation
  JOURNAL   J Mol Biol 436 (16), 168673 (2024)
   PUBMED   38909653
  REMARK    GeneRIF: Conformational Dynamics of an Amyloidogenic Intermediate
            of Transthyretin: Implications for Structural Remodeling and
            Amyloid Formation.
REFERENCE   4  (bases 1 to 616)
  AUTHORS   Martins,L.D.A., Ferreira,P.S., Leitao Dos Santos,O.A.,
            Martins,L.O., Cabral Fernandes Barroso,L.G., Pereira,H.M.,
            Waddington-Cruz,M., Palhano,F.L. and Foguel,D.
  TITLE     Structural and thermodynamic characterization of a highly
            amyloidogenic dimer of transthyretin involved in a severe
            cardiomyopathy
  JOURNAL   J Biol Chem 300 (8), 107495 (2024)
   PUBMED   38925327
  REMARK    GeneRIF: Structural and thermodynamic characterization of a highly
            amyloidogenic dimer of transthyretin involved in a severe
            cardiomyopathy.
REFERENCE   5  (bases 1 to 616)
  AUTHORS   Criddle,R.S., Hansen,L.D., Woodfield,B.F. and Tolley,H.D.
  TITLE     Modeling transthyretin (TTR) amyloid diseases, from monomer to
            amyloid fibrils
  JOURNAL   PLoS One 19 (6), e0304891 (2024)
   PUBMED   38843135
  REMARK    GeneRIF: Modeling transthyretin (TTR) amyloid diseases, from
            monomer to amyloid fibrils.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 616)
  AUTHORS   Sekijima,Y. and Nakamura,K.
  TITLE     Hereditary Transthyretin Amyloidosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301373
REFERENCE   7  (bases 1 to 616)
  AUTHORS   Fex,G., Albertsson,P.A. and Hansson,B.
  TITLE     Interaction between prealbumin and retinol-binding protein studied
            by affinity chromatography, gel filtration and two-phase partition
  JOURNAL   Eur J Biochem 99 (2), 353-360 (1979)
   PUBMED   574085
REFERENCE   8  (bases 1 to 616)
  AUTHORS   Blake,C.C., Geisow,M.J., Oatley,S.J., Rerat,B. and Rerat,C.
  TITLE     Structure of prealbumin: secondary, tertiary and quaternary
            interactions determined by Fourier refinement at 1.8 A
  JOURNAL   J Mol Biol 121 (3), 339-356 (1978)
   PUBMED   671542
REFERENCE   9  (bases 1 to 616)
  AUTHORS   Blake,C.C. and Oatley,S.J.
  TITLE     Protein-DNA and protein-hormone interactions in prealbumin: a model
            of the thyroid hormone nuclear receptor?
  JOURNAL   Nature 268 (5616), 115-120 (1977)
   PUBMED   201845
REFERENCE   10 (bases 1 to 616)
  AUTHORS   Kopelman,M., Cogan,U., Mokady,S. and Shinitzky,M.
  TITLE     The interaction between retinol-binding proteins and prealbumins
            studied by fluorescence polarization
  JOURNAL   Biochim Biophys Acta 439 (2), 449-460 (1976)
   PUBMED   986177
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC020791.1.
            
            On Dec 4, 2019 this sequence version replaced NM_000371.3.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BG699033.1, BG562535.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000237014.8/ ENSP00000237014.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-616               BC020791.1         1-616
FEATURES             Location/Qualifiers
     source          1..616
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     gene            1..616
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /note="transthyretin"
                     /db_xref="GeneID:7276"
                     /db_xref="HGNC:HGNC:12405"
                     /db_xref="MIM:176300"
     exon            1..95
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..470
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /note="prealbumin, amyloidosis type I; thyroxine-binding
                     prealbumin; epididymis luminal protein 111"
                     /codon_start=1
                     /product="transthyretin precursor"
                     /protein_id="NP_000362.1"
                     /db_xref="CCDS:CCDS11899.1"
                     /db_xref="GeneID:7276"
                     /db_xref="HGNC:HGNC:12405"
                     /db_xref="MIM:176300"
                     /translation="MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSP
                     AINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKAL
                     GISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE"
     exon            96..226
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /inference="alignment:Splign:2.1.0"
     exon            227..362
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /inference="alignment:Splign:2.1.0"
     exon            363..616
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      593..598
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /note="hexamer: AATAAA"
     polyA_site      616
                     /gene="TTR"
                     /gene_synonym="ATTR; CTS; CTS1; HEL111; HsT2651; PALB;
                     TBPA; TTN"
                     /note="major polyA site"
ORIGIN      
        1 acagaagtcc actcattctt ggcaggatgg cttctcatcg tctgctcctc ctctgccttg
       61 ctggactggt atttgtgtct gaggctggcc ctacgggcac cggtgaatcc aagtgtcctc
      121 tgatggtcaa agttctagat gctgtccgag gcagtcctgc catcaatgtg gccgtgcatg
      181 tgttcagaaa ggctgctgat gacacctggg agccatttgc ctctgggaaa accagtgagt
      241 ctggagagct gcatgggctc acaactgagg aggaatttgt agaagggata tacaaagtgg
      301 aaatagacac caaatcttac tggaaggcac ttggcatctc cccattccat gagcatgcag
      361 aggtggtatt cacagccaac gactccggcc cccgccgcta caccattgcc gccctgctga
      421 gcccctactc ctattccacc acggctgtcg tcaccaatcc caaggaatga gggacttctc
      481 ctccagtgga cctgaaggac gagggatggg atttcatgta accaagagta ttccattttt
      541 actaaagcag tgttttcacc tcatatgcta tgttagaagt ccaggcagag acaataaaac
      601 attcctgtga aaggca
//
