LOCUS       NM_146256               1602 bp    mRNA    linear   ROD 09-FEB-2025
DEFINITION  Mus musculus 4-hydroxyphenylpyruvate dioxygenase-like (Hpdl), mRNA.
ACCESSION   NM_146256
VERSION     NM_146256.3
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 1602)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1602)
  AUTHORS   Ghosh,S.G., Lee,S., Fabunan,R., Chai,G., Zaki,M.S., Abdel-Salam,G.,
            Sultan,T., Ben-Omran,T., Alvi,J.R., McEvoy-Venneri,J., Stanley,V.,
            Patel,A., Ross,D., Ding,J., Jain,M., Pan,D., Lubbert,P.,
            Kammerer,B., Wiedemann,N., Verhoeven-Duif,N.M., Jans,J.J.,
            Murphy,D., Toosi,M.B., Ashrafzadeh,F., Imannezhad,S.,
            Karimiani,E.G., Ibrahim,K., Waters,E.R., Maroofian,R. and
            Gleeson,J.G.
  TITLE     Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate
            dioxygenase-like protein, lead to an infantile neurodegenerative
            condition
  JOURNAL   Genet Med 23 (3), 524-533 (2021)
   PUBMED   33188300
REFERENCE   3  (bases 1 to 1602)
  AUTHORS   Husain,R.A., Grimmel,M., Wagner,M., Hennings,J.C., Marx,C.,
            Feichtinger,R.G., Saadi,A., Rostasy,K., Radelfahr,F., Bevot,A.,
            Dobler-Neumann,M., Hartmann,H., Colleaux,L., Cordts,I.,
            Kobeleva,X., Darvish,H., Bakhtiari,S., Kruer,M.C., Besse,A.,
            Ng,A.C., Chiang,D., Bolduc,F., Tafakhori,A., Mane,S., Ghasemi
            Firouzabadi,S., Huebner,A.K., Buchert,R., Beck-Woedl,S.,
            Muller,A.J., Laugwitz,L., Nagele,T., Wang,Z.Q., Strom,T.M.,
            Sturm,M., Meitinger,T., Klockgether,T., Riess,O., Klopstock,T.,
            Brandl,U., Hubner,C.A., Deschauer,M., Mayr,J.A., Bonnen,P.E.,
            Krageloh-Mann,I., Wortmann,S.B. and Haack,T.B.
  TITLE     Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging
            from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
  JOURNAL   Am J Hum Genet 107 (2), 364-373 (2020)
   PUBMED   32707086
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AK078929.1.
            
            On Apr 6, 2007 this sequence version replaced NM_146256.2.
            
            ##Evidence-Data-START##
            Transcript is intronless :: AK078929.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1602              AK078929.1         2-1603
FEATURES             Location/Qualifiers
     source          1..1602
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 53.35 cM"
     gene            1..1602
                     /gene="Hpdl"
                     /gene_synonym="A830048M07Rik; Gloxd1"
                     /note="4-hydroxyphenylpyruvate dioxygenase-like"
                     /db_xref="GeneID:242642"
                     /db_xref="MGI:MGI:2444646"
     exon            1..1602
                     /gene="Hpdl"
                     /gene_synonym="A830048M07Rik; Gloxd1"
                     /inference="alignment:Splign:2.1.0"
     CDS             247..1362
                     /gene="Hpdl"
                     /gene_synonym="A830048M07Rik; Gloxd1"
                     /EC_number="1.13.11.46"
                     /note="glyoxalase domain-containing protein 1; glyoxalase
                     domain containing 1"
                     /codon_start=1
                     /product="4-hydroxyphenylpyruvate dioxygenase-like
                     protein"
                     /protein_id="NP_666368.1"
                     /db_xref="CCDS:CCDS18519.1"
                     /db_xref="GeneID:242642"
                     /db_xref="MGI:MGI:2444646"
                     /translation="MTAPARRLCHIAFHVPAGQPLARDLHRVFGFQPLAVREAGGWRQ
                     LALRSGDAVFLVNEGTGPQEPLYSLDPHHSVPSATNLCFDVEDVDGAARALAARGCIM
                     PVPPTRVRDAQGTATYTVLSSPAGNLSLTLLQRAGYRGSFLPGFRPLPCTPGPGWVSH
                     VDHLTLACTSGSSPMLMRWFHDCLGFHHLPLSPGEDPEMGLKVAAGSGRGGLRLTALQ
                     TPPNNTVPTLVLAESLPGLNSKQDQVEQFLTRHGGPGLQHVGLYTPNIIDASEGMAKA
                     GCRLLTPPEAYYQQPGKEEQILAAGHKPGLLERQGILLDGDKDEFLLQVFTKSLFAED
                     TFFLELIQRQGATGFGQNNIRALWQSVQEEAARAQGA"
     regulatory      1575..1580
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Hpdl"
                     /gene_synonym="A830048M07Rik; Gloxd1"
                     /note="putative"
     polyA_site      1602
                     /gene="Hpdl"
                     /gene_synonym="A830048M07Rik; Gloxd1"
                     /note="putative"
ORIGIN      
        1 acaatttacc ctgcagagcc tgtggtcctc agccggcttc tggttgaggt ggccctgccg
       61 agagggtcag tcccccaaag tttgacttcg cgacctctgc ccagaaaaga ccaagaaaca
      121 cgatcttcgg atacaccagg actccgccgg cttccaacta ctagtcctgg accaagagtc
      181 ttggagttct aaacaagtga gcggtcccag aagaacagat ccgggtggcc ggcaattggg
      241 ctcgccatga ctgcgcccgc ccgtcgcctg tgtcacatcg ctttccatgt accagctggg
      301 cagcccctag cgagggacct acatcgtgtc ttcggcttcc agcccctggc ggtgagggaa
      361 gcaggcggct ggagacagct ggccctgcgc agcggggacg ctgtctttct agtgaatgag
      421 ggtaccgggc cccaggagcc actgtacagc ctggacccgc atcattcggt gcccagtgcc
      481 acgaacctgt gcttcgacgt ggaggatgtg gacggcgccg cccgcgcgct ggcggctcgc
      541 ggctgcatca tgccggtacc acccactagg gtgagagatg cacagggcac agccacctac
      601 acagtgctca gctctccggc tggtaatcta agccttacgt tgctgcagcg tgctggctat
      661 cgcggatcct tcctgcccgg gttcagacct ctgccttgca cacctggccc aggttgggtc
      721 agccacgtgg accacttgac cttggcctgc acctccggca gctcccctat gcttatgcgc
      781 tggttccacg actgcctagg ctttcatcac ttgccgctga gcccaggtga ggatccggag
      841 atgggcctca aggtggctgc agggtctggg cgagggggac tacggcttac tgccttgcag
      901 actccgccga ataatactgt ccccaccctc gtgctggcgg agtccctacc gggactcaac
      961 agcaaacagg accaggtaga gcaatttcta acccggcatg gggggccagg cctgcagcac
     1021 gtaggactgt acactcctaa catcatagat gcttctgagg gaatggcgaa ggcgggatgc
     1081 cggcttctga ctcctcctga agcttattac cagcagcccg gcaaagaaga acaaattcta
     1141 gccgcagggc acaagcctgg ccttctagaa cggcagggaa tcctgctgga tggtgataaa
     1201 gacgaatttt tgcttcaggt cttcaccaag tccctcttcg ccgaagacac tttcttcctg
     1261 gagctgattc agagacaggg ggccacaggc tttggccaga acaacatcag ggcactatgg
     1321 cagtcggtgc aagaggaagc agccagggcc cagggagcct aacccaggct aggcctggga
     1381 gttgccactt gtccttggtg ctccttgcct gttggaactg acacacgcca gcaggagctg
     1441 gaccacacct ccacagaact acacccagat agaaaggctc tagttccctc agggtcaggt
     1501 gtgatcttca tcccaaacag tatctgagat gggatttaga acagcaagaa cccctaaaat
     1561 gtctaggtaa tatcaataaa ggaatccggt cgtaaggcaa cc
//
