LOCUS       NM_002150               1419 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript
            variant 1, mRNA.
ACCESSION   NM_002150
VERSION     NM_002150.3
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 1419)
  AUTHORS   Banh,R.S., Kim,E.S., Spillier,Q., Biancur,D.E., Yamamoto,K.,
            Sohn,A.S.W., Shi,G., Jones,D.R., Kimmelman,A.C. and Pacold,M.E.
  TITLE     The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10
            synthesis pathway
  JOURNAL   Nature 597 (7876), 420-425 (2021)
   PUBMED   34471290
  REMARK    GeneRIF: The polar oxy-metabolome reveals the 4-hydroxymandelate
            CoQ10 synthesis pathway.
REFERENCE   2  (bases 1 to 1419)
  AUTHORS   Yang,X., Chen,S.L., Lin,C.S., Liu,L.L., Wang,C.H. and Yun,J.P.
  TITLE     Tyrosine metabolic enzyme HPD is decreased and predicts unfavorable
            outcomes in hepatocellular carcinoma
  JOURNAL   Pathol Res Pract 216 (11), 153153 (2020)
   PUBMED   32891822
  REMARK    GeneRIF: Tyrosine metabolic enzyme HPD is decreased and predicts
            unfavorable outcomes in hepatocellular carcinoma.
REFERENCE   3  (bases 1 to 1419)
  AUTHORS   Zhao,D., Tian,Y., Li,X., Ni,M., Zhu,X. and Jia,L.
  TITLE     Variant analysis of HPD genes from two families showing elevated
            tyrosine upon newborn screening by tandem mass spectrometry (MS/MS)
  JOURNAL   J Pediatr Endocrinol Metab 33 (4), 563-567 (2020)
   PUBMED   32109208
  REMARK    GeneRIF: Variant analysis of HPD genes from two families showing
            elevated tyrosine upon newborn screening by tandem mass
            spectrometry (MS/MS).
REFERENCE   4  (bases 1 to 1419)
  AUTHORS   Feng,A.N., Huang,C.W., Lin,C.H., Chang,Y.L., Ni,M.Y. and Lee,H.J.
  TITLE     Role of the N-terminus in human 4-hydroxyphenylpyruvate dioxygenase
            activity
  JOURNAL   J Biochem 167 (3), 315-322 (2020)
   PUBMED   31722428
  REMARK    GeneRIF: Role of the N-terminus in human 4-hydroxyphenylpyruvate
            dioxygenase activity.
REFERENCE   5  (bases 1 to 1419)
  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    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1419)
  AUTHORS   Ruetschi,U., Rymo,L. and Lindstedt,S.
  TITLE     Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD)
  JOURNAL   Genomics 44 (3), 292-299 (1997)
   PUBMED   9325050
REFERENCE   7  (bases 1 to 1419)
  AUTHORS   Stenman,G., Roijer,E., Ruetschi,U., Dellsen,A., Rymo,L. and
            Lindstedt,S.
  TITLE     Regional assignment of the human 4-hydroxyphenylpyruvate
            dioxygenase gene (HPD) to 12q24-->qter by fluorescence in situ
            hybridization
  JOURNAL   Cytogenet Cell Genet 71 (4), 374-376 (1995)
   PUBMED   8521727
REFERENCE   8  (bases 1 to 1419)
  AUTHORS   Awata,H., Endo,F. and Matsuda,I.
  TITLE     Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene
            (HPD)
  JOURNAL   Genomics 23 (3), 534-539 (1994)
   PUBMED   7851880
REFERENCE   9  (bases 1 to 1419)
  AUTHORS   Ruetschi,U., Dellsen,A., Sahlin,P., Stenman,G., Rymo,L. and
            Lindstedt,S.
  TITLE     Human 4-hydroxyphenylpyruvate dioxygenase. Primary structure and
            chromosomal localization of the gene
  JOURNAL   Eur J Biochem 213 (3), 1081-1089 (1993)
   PUBMED   8504803
REFERENCE   10 (bases 1 to 1419)
  AUTHORS   Endo,F., Awata,H., Tanoue,A., Ishiguro,M., Eda,Y., Titani,K. and
            Matsuda,I.
  TITLE     Primary structure deduced from complementary DNA sequence and
            expression in cultured cells of mammalian 4-hydroxyphenylpyruvic
            acid dioxygenase. Evidence that the enzyme is a homodimer of
            identical subunits homologous to rat liver-specific alloantigen F
  JOURNAL   J Biol Chem 267 (34), 24235-24240 (1992)
   PUBMED   1339442
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079360.28.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002150.2.
            
            Summary: The protein encoded by this gene is an enzyme in the
            catabolic pathway of tyrosine. The encoded protein catalyzes the
            conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in
            this gene are a cause of tyrosinemia type 3 (TYRO3) and
            hawkinsinuria (HAWK). Two transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jan
            2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: SRR5189661.100730.1,
                                           SRR5189664.77782.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155590, SAMEA2162895
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000289004.8/ ENSP00000289004.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                AC079360.28        28237-28275         c
            40-66               AC079360.28        28103-28129         c
            67-129              AC079360.28        27173-27235         c
            130-234             AC079360.28        26744-26848         c
            235-277             AC079360.28        25999-26041         c
            278-360             AC079360.28        25740-25822         c
            361-450             AC079360.28        24119-24208         c
            451-554             AC079360.28        19103-19206         c
            555-632             AC079360.28        18415-18492         c
            633-795             AC079360.28        16468-16630         c
            796-867             AC079360.28        16278-16349         c
            868-990             AC079360.28        13126-13248         c
            991-1107            AC079360.28        9348-9464           c
            1108-1419           AC079360.28        8943-9254           c
FEATURES             Location/Qualifiers
     source          1..1419
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..1419
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /note="4-hydroxyphenylpyruvate dioxygenase"
                     /db_xref="GeneID:3242"
                     /db_xref="HGNC:HGNC:5147"
                     /db_xref="MIM:609695"
     exon            1..39
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..1218
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /EC_number="1.13.11.27"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glyoxalase domain containing 3; 4-hydroxyphenylpyruvic
                     acid oxidase; p-hydroxyphenylpyruvate dioxygenase"
                     /codon_start=1
                     /product="4-hydroxyphenylpyruvate dioxygenase isoform 1"
                     /protein_id="NP_002141.2"
                     /db_xref="CCDS:CCDS9224.1"
                     /db_xref="GeneID:3242"
                     /db_xref="HGNC:HGNC:5147"
                     /db_xref="MIM:609695"
                     /translation="MTTYSDKGAKPERGRFLHFHSVTFWVGNAKQATSFYCSKMGFEP
                     LAYRGLETGSREVVSHVIKQGKIVFVLSSALNPWNKEMGDHLVKHGDGVKDIAFEVED
                     CDYIVQKARERGAKIMREPWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGY
                     EAPAFMDPLLPKLPKCSLEMIDHIVGNQPDQEMVSASEWYLKNLQFHRFWSVDDTQVH
                     TEYSSLRSIVVANYEESIKMPINEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIIT
                     AIRHLRERGLEFLSVPSTYYKQLREKLKTAKIKVKENIDALEELKILVDYDEKGYLLQ
                     IFTKPVQDRPTLFLEVIQRHNHQGFGAGNFNSLFKAFEEEQNLRGNLTNMETNGVVPG
                     M"
     exon            40..66
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /inference="alignment:Splign:2.1.0"
     exon            67..129
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /inference="alignment:Splign:2.1.0"
     exon            130..234
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /inference="alignment:Splign:2.1.0"
     exon            235..277
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /inference="alignment:Splign:2.1.0"
     exon            278..360
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /inference="alignment:Splign:2.1.0"
     exon            361..450
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /inference="alignment:Splign:2.1.0"
     exon            451..554
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /inference="alignment:Splign:2.1.0"
     exon            555..632
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /inference="alignment:Splign:2.1.0"
     exon            633..795
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /inference="alignment:Splign:2.1.0"
     exon            796..867
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /inference="alignment:Splign:2.1.0"
     exon            868..990
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /inference="alignment:Splign:2.1.0"
     exon            991..1107
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /inference="alignment:Splign:2.1.0"
     exon            1108..1419
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1398..1403
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /note="hexamer: ATTAAA"
     polyA_site      1419
                     /gene="HPD"
                     /gene_synonym="4-HPPD; 4HPPD; GLOD3; HPPD; HPPDASE; PPD"
                     /note="major polyA site"
ORIGIN      
        1 ctctagtccc agtaggaggt ttgactaaga tcaatcatga cgacttacag tgacaaaggg
       61 gcaaagcctg agagaggccg attcctccac ttccactctg tgaccttctg ggttggcaac
      121 gccaagcagg ccacgtcatt ctactgcagc aagatgggct ttgaacctct agcctacagg
      181 ggcctggaga ccggttcccg ggaggtggtc agccatgtaa tcaaacaagg gaagattgtg
      241 tttgtcctct cctcagcgct caacccctgg aacaaagaga tgggcgatca cctggtgaaa
      301 cacggtgacg gagtgaagga cattgcgttc gaggtggaag attgtgacta catcgtgcag
      361 aaagcacggg aacggggcgc caaaatcatg cgggagccct gggtagagca agacaagttt
      421 gggaaggtga agtttgctgt gctgcagacg tatggggaca ccacacacac cctggtggag
      481 aagatgaact acatcggcca attcttgcct ggatatgagg ccccagcgtt catggacccc
      541 ctacttccta aactgcccaa atgcagtctg gagatgatcg accacattgt gggaaaccag
      601 cctgatcagg agatggtgtc cgcctccgaa tggtacctga aaaacctgca gttccaccgc
      661 ttctggtccg tggatgacac gcaggtgcac acggaatata gctctctgcg atccattgtg
      721 gtggccaact atgaagagtc catcaagatg cccatcaatg agccagcgcc tggcaagaag
      781 aagtcccaga tccaggaata tgtggactat aacgggggcg ctggggtcca gcacatcgct
      841 ctcaagaccg aagacatcat cacagcgatt cgccacttga gagagagagg cctggagttc
      901 ttatctgttc cctccacgta ctacaaacaa ctgcgggaga agctgaagac ggccaagatc
      961 aaggtgaagg agaacattga tgccctggag gagctgaaaa tcctggtgga ctacgacgag
     1021 aaaggctacc tcctgcagat cttcaccaaa ccggtgcagg accggcccac gctcttcctg
     1081 gaagtcatcc agcgccacaa ccaccagggt tttggagccg gcaacttcaa ctcactgttc
     1141 aaggctttcg aggaggagca gaacctgcgg ggtaacctca ccaacatgga gaccaatggg
     1201 gtggtgcccg gcatgtaagc cccgcccacc ccacggaggc cacagccaca cagccacgcc
     1261 ccctgattct ggaactcgcc caacttccct actggctgct ccccttgggt cccgcccacc
     1321 agcggactcg gcccccaagg ctccgcccac actgaccacg cccctcggcg gggccgccct
     1381 ctgctccagc cctcccgatt aaagcgtgcc ccggtccaa
//
