LOCUS       NM_000792               1861 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens iodothyronine deiodinase 1 (DIO1), transcript variant
            1, mRNA.
ACCESSION   NM_000792
VERSION     NM_000792.7
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 1861)
  AUTHORS   Alfandari,A., Moskovich,D., Weisz,A., Katzav,A., Kidron,D.,
            Beiner,M., Josephy,D., Asali,A., Hants,Y., Yagur,Y., Weitzner,O.,
            Ellis,M., Itchaki,G. and Ashur-Fabian,O.
  TITLE     The selenoenzyme type I iodothyronine deiodinase: a new tumor
            suppressor in ovarian cancer
  JOURNAL   Mol Oncol 18 (9), 2298-2313 (2024)
   PUBMED   38429887
  REMARK    GeneRIF: The selenoenzyme type I iodothyronine deiodinase: a new
            tumor suppressor in ovarian cancer.
REFERENCE   2  (bases 1 to 1861)
  AUTHORS   Castillejo-Lopez,C., Barcenas-Walls,J.R., Cavalli,M., Larsson,A.
            and Wadelius,C.
  TITLE     A regulatory element associated to NAFLD in the promoter of DIO1
            controls LDL-C, HDL-C and triglycerides in hepatic cells
  JOURNAL   Lipids Health Dis 23 (1), 48 (2024)
   PUBMED   38365720
  REMARK    GeneRIF: A regulatory element associated to NAFLD in the promoter
            of DIO1 controls LDL-C, HDL-C and triglycerides in hepatic cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1861)
  AUTHORS   AlEjielat,R., Khaleel,A., Batarseh,Y.S., Abu-Qatouseh,L.,
            Al-Wawi,S. and AlSunna,T.
  TITLE     SNP rs11185644 in RXRA gene and SNP rs2235544 in DIO1 gene predict
            dosage requirements in a cross-sectional sample of hypothyroid
            patients
  JOURNAL   BMC Endocr Disord 23 (1), 167 (2023)
   PUBMED   37563580
  REMARK    GeneRIF: SNP rs11185644 in RXRA gene and SNP rs2235544 in DIO1 gene
            predict dosage requirements in a cross-sectional sample of
            hypothyroid patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1861)
  AUTHORS   Piekielko-Witkowska,A., Kedzierska,H., Poplawski,P., Wojcicka,A.,
            Rybicka,B., Maksymowicz,M., Grajkowska,W., Matyja,E., Mandat,T.,
            Bonicki,W. and Nauman,P.
  TITLE     Alternative splicing of iodothyronine deiodinases in pituitary
            adenomas. Regulation by oncoprotein SF2/ASF
  JOURNAL   Biochim Biophys Acta 1832 (6), 763-772 (2013)
   PUBMED   23462647
  REMARK    GeneRIF: a new mechanism of posttranscriptional regulation of DIO1
            and show deregulation of DIO1 expression in pituitary adenoma,
            possibly resulting from disturbed expression of SF2/ASF.
REFERENCE   5  (bases 1 to 1861)
  AUTHORS   Kryukov,G.V., Castellano,S., Novoselov,S.V., Lobanov,A.V.,
            Zehtab,O., Guigo,R. and Gladyshev,V.N.
  TITLE     Characterization of mammalian selenoproteomes
  JOURNAL   Science 300 (5624), 1439-1443 (2003)
   PUBMED   12775843
REFERENCE   6  (bases 1 to 1861)
  AUTHORS   Jakobs,T.C., Schmutzler,C., Meissner,J. and Kohrle,J.
  TITLE     The promoter of the human type I 5'-deiodinase gene--mapping of the
            transcription start site and identification of a DR+4
            thyroid-hormone-responsive element
  JOURNAL   Eur J Biochem 247 (1), 288-297 (1997)
   PUBMED   9249039
REFERENCE   7  (bases 1 to 1861)
  AUTHORS   Toyoda,N., Zavacki,A.M., Maia,A.L., Harney,J.W. and Larsen,P.R.
  TITLE     A novel retinoid X receptor-independent thyroid hormone response
            element is present in the human type 1 deiodinase gene
  JOURNAL   Mol Cell Biol 15 (9), 5100-5112 (1995)
   PUBMED   7651427
REFERENCE   8  (bases 1 to 1861)
  AUTHORS   Toyoda,N., Berry,M.J., Harney,J.W. and Larsen,P.R.
  TITLE     Topological analysis of the integral membrane protein, type 1
            iodothyronine deiodinase (D1)
  JOURNAL   J Biol Chem 270 (20), 12310-12318 (1995)
   PUBMED   7744884
REFERENCE   9  (bases 1 to 1861)
  AUTHORS   Visser,T.J.
  TITLE     Role of sulfation in thyroid hormone metabolism
  JOURNAL   Chem Biol Interact 92 (1-3), 293-303 (1994)
   PUBMED   8033262
  REMARK    Review article
REFERENCE   10 (bases 1 to 1861)
  AUTHORS   Mandel,S.J., Berry,M.J., Kieffer,J.D., Harney,J.W., Warne,R.L. and
            Larsen,P.R.
  TITLE     Cloning and in vitro expression of the human selenoprotein, type I
            iodothyronine deiodinase
  JOURNAL   J Clin Endocrinol Metab 75 (4), 1133-1139 (1992)
   PUBMED   1400883
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290780.1, BC017955.1 and
            BE046205.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_000792.6.
            
            Summary: The protein encoded by this gene belongs to the
            iodothyronine deiodinase family. It catalyzes the activation, as
            well as the inactivation of thyroid hormone by outer and inner ring
            deiodination, respectively. The activation reaction involves the
            conversion of the prohormone thyroxine
            (3,5,3',5'-tetraiodothyronine, T4), secreted by the thyroid gland,
            to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by
            5'-deiodination. This protein provides most of the circulating T3,
            which is essential for growth, differentiation and basal metabolism
            in vertebrates. This protein is a selenoprotein, containing the
            rare amino acid selenocysteine (Sec) at its active site. Sec is
            encoded by the UGA codon, which normally signals translation
            termination. The 3' UTRs of selenoprotein mRNAs contain a conserved
            stem-loop structure, designated the Sec insertion sequence (SECIS)
            element, that is necessary for the recognition of UGA as a Sec
            codon, rather than as a stop signal. Alternatively spliced
            transcript variants have been found for this gene. [provided by
            RefSeq, Jun 2018].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: SRR5189664.99654.1,
                                           SRR5189664.83684.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match              :: ENST00000361921.8/
                                               ENSP00000354643.4
            protein contains selenocysteine :: PMID: 1400883, 12775843
            RefSeq Select criteria          :: based on manual assertion,
                                               conservation, expression,
                                               longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-802               AK290780.1         1-802
            803-1859            BC017955.1         602-1658
            1860-1861           BE046205.1         9-10                c
FEATURES             Location/Qualifiers
     source          1..1861
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..1861
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /note="iodothyronine deiodinase 1"
                     /db_xref="GeneID:1733"
                     /db_xref="HGNC:HGNC:2883"
                     /db_xref="MIM:147892"
     exon            1..361
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..774
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /EC_number="1.21.99.4"
                     /note="UGA stop codon recoded as selenocysteine; isoform a
                     is encoded by transcript variant 1; thyroxine deiodinase
                     type I (selenoprotein); DIOI; type 1 DI; type-I
                     5'-deiodinase; iodothyronine deiodinase type 1; thyroxine
                     5'-deiodinase; deiodinase, iodothyronine type I;
                     selenoprotein DIO1"
                     /codon_start=1
                     /transl_except=(pos:400..402,aa:Sec)
                     /product="type I iodothyronine deiodinase isoform a"
                     /protein_id="NP_000783.2"
                     /db_xref="CCDS:CCDS41339.1"
                     /db_xref="GeneID:1733"
                     /db_xref="HGNC:HGNC:2883"
                     /db_xref="MIM:147892"
                     /translation="MGLPQPGLWLKRLWVLLEVAVHVVVGKVLLILFPDRVKRNILAM
                     GEKTGMTRNPHFSHDNWIPTFFSTQYFWFVLKVRWQRLEDTTELGGLAPNCPVVRLSG
                     QRCNIWEFMQGNRPLVLNFGSCTUPSFMFKFDQFKRLIEDFSSIADFLVIYIEEAHAS
                     DGWAFKNNMDIRNHQNLQDRLQAAHLLLARSPQCPVVVDTMQNQSSQLYAALPERLYI
                     IQEGRILYKGKSGPWNYNPEEVRAVLEKLHS"
     exon            362..505
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            506..705
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            706..1861
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1745..1815
                     /regulatory_class="recoding_stimulatory_region"
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /note="SECIS_element"
                     /function="essential for recoding UGA to specify
                     selenocysteine"
     regulatory      1843..1848
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /note="hexamer: ATTAAA"
     polyA_site      1861
                     /gene="DIO1"
                     /gene_synonym="5DI; THMA2; TXDI1"
                     /note="major polyA site"
ORIGIN      
        1 agagcttact ctggctttgc cgagatgggg ctgccccagc cagggctgtg gctgaagagg
       61 ctctgggtgc tcttggaggt ggctgtgcat gtggtcgtgg gtaaagtgct tctgatattg
      121 tttccagaca gagtcaagcg gaacatcctg gccatgggcg agaagacggg tatgaccagg
      181 aacccccatt tcagccacga caactggata ccaacctttt tcagcaccca gtatttctgg
      241 ttcgtcttga aggtccgttg gcagcgacta gaggacacga ctgagctagg gggtctggcc
      301 ccaaactgcc cggtggtccg cctctcagga cagaggtgca acatttggga gtttatgcaa
      361 ggtaataggc cactggtgct gaattttgga agttgtacct gaccttcatt tatgttcaaa
      421 tttgaccagt tcaagaggct tattgaagac tttagttcca tagcagattt tcttgtcatt
      481 tacattgaag aagcacatgc atcagatggc tgggctttta agaacaacat ggacatcaga
      541 aatcaccaga accttcagga tcgcctgcag gcagcccatc tactgctggc caggagcccc
      601 cagtgccctg tggtggtgga caccatgcag aaccagagca gccagctcta cgcagcactg
      661 cctgagaggc tctacataat ccaggagggc aggatcctct acaagggtaa atctggccct
      721 tggaactaca acccagagga agttcgtgct gttctggaaa agctccacag ttaatctgga
      781 cagatacctc aattctaggt gaccaacggg agggcttctc aaggcttagc tctccctgag
      841 acccagctgg cttttaccct tgacctgtgt ccctagctga atcactagct cagatttttc
      901 tgatctaagc aaacaactcc cagctgagga atgcaggcca cagcacccaa tcaagacaaa
      961 ttgttattat cagaaaatga agcaacactt gagctgttca ggccagttcc ctgttgaaga
     1021 aacagttccc tgttgaagaa agtagagcct gacactgctc ccactttgga gaccacattc
     1081 cctgcacacg gtctttgaga gagcagttgc actctacagg cacacttctg aggtacggta
     1141 tctctctcca gccactctga taccaagtaa ttcaagctgg cattccttct attagggaaa
     1201 ttcattttac ccaatttgca tttatggaat tgatcattta agacactaaa ttagttttta
     1261 gaaccaatta tgggaagaat tccagttgtt aggaagagat gaggagttgg aagaggaggg
     1321 attagaaaca ggaggaggca gtcatcctct ccttgccaaa agatttaaac ctgtccacat
     1381 tggtggtgat gatgggtgag tttccatggt aacacatccc taattttacc agggaagagg
     1441 agagtactca ctttaccatc tttgaatata tttcatagaa atctagctct ctgtaccctg
     1501 aaatcttcca ctagcctcac ttttcaacag agtcatctag aagggagggt tggcttccca
     1561 aaagcataac cttgaccaaa ccaaacaata ggcaccagca atgctgtcat tcagttatgc
     1621 agaagctcat ttgtgaaatt ctgtttctct gatttcttcg caagtctctt aatggtcatt
     1681 tgtgttagat tacatcaaac tgatggatag ccattggtat tcatctattt taactctgtg
     1741 tctttacata tttgtttatg atggccacag cctaaagtac acacggctgt gacttgattc
     1801 aaaagaaaat gttataagat gcagtaaact aataacagaa ttattaaaat atatcaggct
     1861 a
//
