LOCUS       NM_008277               1400 bp    mRNA    linear   ROD 05-JUN-2024
DEFINITION  Mus musculus 4-hydroxyphenylpyruvic acid dioxygenase (Hpd), mRNA.
ACCESSION   NM_008277
VERSION     NM_008277.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1400)
  AUTHORS   Xie,Y., Lv,X., Ni,D., Liu,J., Hu,Y., Liu,Y., Liu,Y., Liu,R.,
            Zhao,H., Lu,Z. and Zhou,Q.
  TITLE     HPD degradation regulated by the TTC36-STK33-PELI1 signaling axis
            induces tyrosinemia and neurological damage
  JOURNAL   Nat Commun 10 (1), 4266 (2019)
   PUBMED   31537781
  REMARK    GeneRIF: The findings reveal a previously unknown regulation of
            4-hydroxyphenylpyruvic acid dioxygenase (HPD) expression and
            highlight the physiological significance of
            TTC36-STK33-PELI1-regulated HPD expression in tyrosinemia and
            tyrosinemia-associated neurological disorders.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1400)
  AUTHORS   Rossidis,A.C., Stratigis,J.D., Chadwick,A.C., Hartman,H.A.,
            Ahn,N.J., Li,H., Singh,K., Coons,B.E., Li,L., Lv,W., Zoltick,P.W.,
            Alapati,D., Zacharias,W., Jain,R., Morrisey,E.E., Musunuru,K. and
            Peranteau,W.H.
  TITLE     In utero CRISPR-mediated therapeutic editing of metabolic genes
  JOURNAL   Nat Med 24 (10), 1513-1518 (2018)
   PUBMED   30297903
  REMARK    GeneRIF: We observed long-term postnatal persistence of edited
            cells in both models, with reduction of plasma PCSK9 and
            cholesterol levels following in utero Pcsk9 targeting and rescue of
            the lethal phenotype of hereditary tyrosinemia type 1 following in
            utero Hpd targeting
REFERENCE   3  (bases 1 to 1400)
  AUTHORS   Pankowicz,F.P., Barzi,M., Legras,X., Hubert,L., Mi,T.,
            Tomolonis,J.A., Ravishankar,M., Sun,Q., Yang,D., Borowiak,M.,
            Sumazin,P., Elsea,S.H., Bissig-Choisat,B. and Bissig,K.D.
  TITLE     Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome
            editing to treat hereditary tyrosinaemia
  JOURNAL   Nat Commun 7, 12642 (2016)
   PUBMED   27572891
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1400)
  AUTHORS   Harten,S.K., Oey,H., Bourke,L.M., Bharti,V., Isbel,L., Daxinger,L.,
            Faou,P., Robertson,N., Matthews,J.M. and Whitelaw,E.
  TITLE     The recently identified modifier of murine metastable epialleles,
            Rearranged L-Myc Fusion, is involved in maintaining epigenetic
            marks at CpG island shores and enhancers
  JOURNAL   BMC Biol 13, 21 (2015)
   PUBMED   25857663
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1400)
  AUTHORS   Tanaka,Y., Nakamura,K., Matsumoto,S., Kimoto,Y., Tanoue,A.,
            Tsujimoto,G. and Endo,F.
  TITLE     Gene expression profiles of homogentisate-treated Fah-/- Hpd-/-mice
            using DNA microarrays
  JOURNAL   Mol Genet Metab 89 (3), 203-209 (2006)
   PUBMED   16899383
  REMARK    GeneRIF: Gene expressions in tyrosinemia type I model mice with
            liver failure using microarrays.  Numerous genes, including amino
            acid metabolism and apoptosis related genes, were up- or
            down-regulated at the onset of liver failure.
REFERENCE   6  (bases 1 to 1400)
  AUTHORS   Teuber,S.S., Coppel,R.L., Ansari,A.A., Leung,P.S., Neve,R.,
            Mackay,I.R. and Gershwin,M.E.
  TITLE     The identification and cloning of the murine genes encoding the
            liver specific F alloantigens
  JOURNAL   J Autoimmun 4 (6), 857-870 (1991)
   PUBMED   1667467
REFERENCE   7  (bases 1 to 1400)
  AUTHORS   Schofield,J.P., Vijayakumar,R.K. and Oliveira,D.B.
  TITLE     Sequences of the mouse F protein alleles and identification of a T
            cell epitope
  JOURNAL   Eur J Immunol 21 (5), 1235-1240 (1991)
   PUBMED   1709870
REFERENCE   8  (bases 1 to 1400)
  AUTHORS   Endo,F., Katoh,H., Yamamoto,S. and Matsuda,I.
  TITLE     A murine model for type III tyrosinemia: lack of immunologically
            detectable 4-hydroxyphenylpyruvic acid dioxygenase enzyme protein
            in a novel mouse strain with hypertyrosinemia
  JOURNAL   Am J Hum Genet 48 (4), 704-709 (1991)
   PUBMED   2014797
REFERENCE   9  (bases 1 to 1400)
  AUTHORS   Kuo,C.J., Conley,P.B., Hsieh,C.L., Francke,U. and Crabtree,G.R.
  TITLE     Molecular cloning, functional expression, and chromosomal
            localization of mouse hepatocyte nuclear factor 1
  JOURNAL   Proc Natl Acad Sci U S A 87 (24), 9838-9842 (1990)
   PUBMED   2263635
REFERENCE   10 (bases 1 to 1400)
  AUTHORS   Lane,D.P. and Silver,D.M.
  TITLE     Inhibition of lymphocyte proliferation by murine liver-specific F
            antigen
  JOURNAL   Transplant Proc 9 (1), 1063-1065 (1977)
   PUBMED   867484
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK149416.1 and AC163337.2.
            
            On Oct 7, 2017 this sequence version replaced NM_008277.2.
            
            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 :: BC013343.2, AK149416.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849386 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            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
            1-663               AK149416.1         2-664
            664-664             AC163337.2         146900-146900
            665-1308            AK149416.1         666-1309
            1309-1398           AK149416.1         1311-1400
            1399-1400           AC163337.2         151326-151327
FEATURES             Location/Qualifiers
     source          1..1400
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 62.82 cM"
     gene            1..1400
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /note="4-hydroxyphenylpyruvic acid dioxygenase"
                     /db_xref="GeneID:15445"
                     /db_xref="MGI:MGI:96213"
     exon            1..50
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..1229
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /EC_number="1.13.11.27"
                     /note="HPPDase; f Alloantigen; 4-hydroxyphenylpyruvic acid
                     oxidase; F liver antigen; F protein"
                     /codon_start=1
                     /product="4-hydroxyphenylpyruvate dioxygenase"
                     /protein_id="NP_032303.1"
                     /db_xref="CCDS:CCDS39265.1"
                     /db_xref="GeneID:15445"
                     /db_xref="MGI:MGI:96213"
                     /translation="MTTYNNKGPKPERGRFLHFHSVTFWVGNAKQAASFYCNKMGFEP
                     LAYRGLETGSREVVSHVIKQGKIVFVLCSALNPWNKEMGDHLVKHGDGVKDIAFEVED
                     CDHIVQKARERGAKIVREPWVEQDKFGKVKFAVLQTYGDTTHTLVEKINYTGRFLPGF
                     EAPTYKDTLLPKLPRCNLEIIDHIVGNQPDQEMQSASEWYLKNLQFHRFWSVDDTQVH
                     TEYSSLRSIVVTNYEESIKMPINEPAPGRKKSQIQEYVDYNGGAGVQHIALKTEDIIT
                     AIRHLRERGTEFLAAPSSYYKLLRENLKSAKIQVKESMDVLEELHILVDYDEKGYLLQ
                     IFTKPMQDRPTLFLEVIQRHNHQGFGAGNFNSLFKAFEEEQALRGNLTDLEPNGVRSG
                     M"
     exon            51..77
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /inference="alignment:Splign:2.1.0"
     exon            78..140
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /inference="alignment:Splign:2.1.0"
     exon            141..245
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /inference="alignment:Splign:2.1.0"
     exon            246..288
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /inference="alignment:Splign:2.1.0"
     exon            289..371
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /inference="alignment:Splign:2.1.0"
     exon            372..461
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /inference="alignment:Splign:2.1.0"
     exon            462..565
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /inference="alignment:Splign:2.1.0"
     exon            566..643
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /inference="alignment:Splign:2.1.0"
     exon            644..806
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /inference="alignment:Splign:2.1.0"
     exon            807..878
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /inference="alignment:Splign:2.1.0"
     exon            879..1001
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /inference="alignment:Splign:2.1.0"
     exon            1002..1118
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..1400
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1376..1381
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /note="hexamer: AGTAAA"
     polyA_site      1400
                     /gene="Hpd"
                     /gene_synonym="4HPPD; Fla; Flp; Hppd; Laf"
                     /note="major polyA site"
ORIGIN      
        1 ggcttcttgt cccagtcttc ctggtagagg tctgaccacc atcaaccatg acaacctaca
       61 acaacaaagg accaaagcct gagagaggcc ggttcctcca tttccactcg gtgaccttct
      121 gggttggcaa tgccaagcag gctgcttcct tctactgcaa caagatgggc tttgaacctc
      181 tggcctacag gggcctagag actggctccc gggaggtagt cagccacgtc atcaagcaag
      241 ggaaaattgt gtttgttctc tgctctgctc tcaatccctg gaacaaagag atgggcgacc
      301 acttggtgaa gcatggcgac ggggtgaaag acatcgcatt cgaggtggaa gactgcgacc
      361 acattgtgca gaaagctcga gaacggggcg ccaaaattgt gcgggagcca tgggtggagc
      421 aagacaaatt tgggaaggtg aagtttgctg tgctgcagac gtatggagat accacacaca
      481 ccctggtgga gaagatcaac tacactggcc gtttcttacc tggattcgag gccccaacat
      541 acaaggatac cctgcttcca aaactaccca gatgtaacct tgagatcatt gaccacattg
      601 taggcaacca acccgaccaa gaaatgcagt ctgcctcaga atggtacctg aaaaacctgc
      661 agttccaccg gttctggtcc gtggacgaca cgcaggtgca cacggagtac agctctctgc
      721 gctccattgt ggtgaccaac tacgaggaat ccatcaaaat gcccatcaac gagccagctc
      781 cgggcaggaa gaagtctcag atccaggaat atgtggacta taatgggggt gctggggtcc
      841 agcacatcgc tctcaagacg gaagacatca tcacagcaat ccgccacttg agggagcgag
      901 gcacggagtt cttggccgcc ccatcttctt actacaaact gcttcgggag aatctcaagt
      961 cagccaagat ccaggtgaaa gagagcatgg acgtcctgga ggagctgcat atcctagtcg
     1021 actatgacga gaaaggctac ctcctacaga tcttcaccaa gcccatgcag gaccggccca
     1081 cactcttcct ggaagtcatt caacgtcaca accaccaggg ctttggagcg ggcaacttca
     1141 actctctgtt caaggcgttc gaggaggagc aagccctacg gggcaacctc actgacctgg
     1201 agcccaatgg tgtgaggtct ggaatgtaag cccccatcca cacatggacc acgcaaagtg
     1261 ctggacacat cagtcatctc caactggctg aaaggctgaa cctcagggct ccacccacgt
     1321 catggccacg ccccctctat tacaagagtc cgccttgcct gagtcctccc tgctgagtaa
     1381 agctaccctc ccaggtccaa
//
