LOCUS       NM_013547               1708 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus homogentisate 1, 2-dioxygenase (Hgd), transcript
            variant 1, mRNA.
ACCESSION   NM_013547 XM_489544
VERSION     NM_013547.3
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 1708)
  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 1708)
  AUTHORS   Hughes,J.H., Liu,K., Plagge,A., Wilson,P.J.M., Sutherland,H.,
            Norman,B.P., Hughes,A.T., Keenan,C.M., Milan,A.M., Sakai,T.,
            Ranganath,L.R., Gallagher,J.A. and Bou-Gharios,G.
  TITLE     Conditional targeting in mice reveals that hepatic homogentisate
            1,2-dioxygenase activity is essential in reducing circulating
            homogentisic acid and for effective therapy in the genetic disease
            alkaptonuria
  JOURNAL   Hum Mol Genet 28 (23), 3928-3939 (2019)
   PUBMED   31600782
  REMARK    GeneRIF: HGD knockout mouse exhibits the characteristic traits of
            alkaptonuria (AK)U. Both adult and embryo HGD expression has been
            localized to the liver and kidney only. More importantly, the
            conditional Hgd tm1d MxCre model has highlighted the importance of
            liver HGD expression in limiting the pathological effects of the
            HGA pool despite apparent reabsorption of homogentisic acid in the
            kidney.
REFERENCE   3  (bases 1 to 1708)
  AUTHORS   Wilkinson,P.D., Alencastro,F., Delgado,E.R., Leek,M.P.,
            Weirich,M.P., Otero,P.A., Roy,N., Brown,W.K., Oertel,M. and
            Duncan,A.W.
  TITLE     Polyploid Hepatocytes Facilitate Adaptation and Regeneration to
            Chronic Liver Injury
  JOURNAL   Am J Pathol 189 (6), 1241-1255 (2019)
   PUBMED   30928253
REFERENCE   4  (bases 1 to 1708)
  AUTHORS   Duncan,A.W., Hanlon Newell,A.E., Bi,W., Finegold,M.J., Olson,S.B.,
            Beaudet,A.L. and Grompe,M.
  TITLE     Aneuploidy as a mechanism for stress-induced liver adaptation
  JOURNAL   J Clin Invest 122 (9), 3307-3315 (2012)
   PUBMED   22863619
REFERENCE   5  (bases 1 to 1708)
  AUTHORS   Schmidt,S.R., Gehrig,A., Koehler,M.R., Schmid,M., Muller,C.R. and
            Kress,W.
  TITLE     Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme
            of alkaptonuria in mouse
  JOURNAL   Mamm Genome 8 (3), 168-171 (1997)
   PUBMED   9069115
REFERENCE   6  (bases 1 to 1708)
  AUTHORS   Gehrig,A., Schmidt,S.R., Muller,C.R., Srsen,S., Srsnova,K. and
            Kress,W.
  TITLE     Molecular defects in alkaptonuria
  JOURNAL   Cytogenet Cell Genet 76 (1-2), 14-16 (1997)
   PUBMED   9154114
REFERENCE   7  (bases 1 to 1708)
  AUTHORS   Schmidt,S.R., Muller,C.R. and Kress,W.
  TITLE     Murine liver homogentisate 1,2-dioxygenase. Purification to
            homogeneity and novel biochemical properties
  JOURNAL   Eur J Biochem 228 (2), 425-430 (1995)
   PUBMED   7705358
REFERENCE   8  (bases 1 to 1708)
  AUTHORS   Montagutelli,X., Lalouette,A., Coude,M., Kamoun,P., Forest,M. and
            Guenet,J.L.
  TITLE     aku, a mutation of the mouse homologous to human alkaptonuria, maps
            to chromosome 16
  JOURNAL   Genomics 19 (1), 9-11 (1994)
   PUBMED   8188247
REFERENCE   9  (bases 1 to 1708)
  AUTHORS   Janocha,S., Wolz,W., Srsen,S., Srsnova,K., Montagutelli,X.,
            Guenet,J.L., Grimm,T., Kress,W. and Muller,C.R.
  TITLE     The human gene for alkaptonuria (AKU) maps to chromosome 3q
  JOURNAL   Genomics 19 (1), 5-8 (1994)
   PUBMED   8188241
REFERENCE   10 (bases 1 to 1708)
  AUTHORS   RUSSELL,W.L.
  TITLE     X-ray-induced mutations in mice
  JOURNAL   Cold Spring Harb Symp Quant Biol 16, 327-336 (1951)
   PUBMED   14942747
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC154762.2.
            
            On Jun 18, 2009 this sequence version replaced NM_013547.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the functional protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on transcript alignments.
            
            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 :: BC055029.2, AK002584.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849385, SAMN00849386
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-184               AC154762.2         95552-95735
            185-256             AC154762.2         104090-104161
            257-345             AC154762.2         105090-105178
            346-451             AC154762.2         108753-108858
            452-511             AC154762.2         126514-126573
            512-603             AC154762.2         128639-128730
            604-638             AC154762.2         130762-130796
            639-718             AC154762.2         131575-131654
            719-818             AC154762.2         132151-132250
            819-943             AC154762.2         134257-134381
            944-1048            AC154762.2         137248-137352
            1049-1175           AC154762.2         139656-139782
            1176-1357           AC154762.2         143821-144002
            1358-1708           AC154762.2         147075-147425
FEATURES             Location/Qualifiers
     source          1..1708
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="16"
                     /map="16 26.4 cM"
     gene            1..1708
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /note="homogentisate 1, 2-dioxygenase"
                     /db_xref="GeneID:15233"
                     /db_xref="MGI:MGI:96078"
     exon            1..184
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /inference="alignment:Splign:2.1.0"
     CDS             170..1507
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /EC_number="1.13.11.5"
                     /note="homogentisicase; homogentisate oxygenase;
                     homogentisic acid oxidase; alkaptonuria"
                     /codon_start=1
                     /product="homogentisate 1,2-dioxygenase"
                     /protein_id="NP_038575.2"
                     /db_xref="CCDS:CCDS49849.1"
                     /db_xref="GeneID:15233"
                     /db_xref="MGI:MGI:96078"
                     /translation="MAELKYISGFGNECASEDPRCPGSLPKGQNNPQVCPYNLYAEQL
                     SGSAFTCPRNTNKRSWLYRILPSVSHKPFESIDQGHVTHNWDEVGPDPNQLRWKPFEI
                     PKASEKKVDFVSGLYTLCGAGDIKSNNGLAVHIFLCNSSMENRCFYNSDGDFLIVPQK
                     GKLLIYTEFGKMSLQPNEICVIQRGMRFSVDVFEETRGYILEVYGVHFELPDLGPIGA
                     NGLANPRDFLIPVAWYEDRRVPGGYTVINKFQGKLFACKQDVSPFNVVAWHGNYTPYK
                     YNLENFMVINAVAFDHADPSIFTVLTAKSLRPGVAIADFVIFPPRWGVADKTFRPPYY
                     HRNCMSEFMGLIKGHYEAKQGGFLPGGGSLHSAMTPHGPDADCFEKASKAKLEPERIA
                     DGTMAFMFESSLSLAVTKWGLKTCSCLDENYYKCWEPLRSHFTPNSRSPTEPK"
     exon            185..256
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /inference="alignment:Splign:2.1.0"
     exon            257..345
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /inference="alignment:Splign:2.1.0"
     exon            346..451
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /inference="alignment:Splign:2.1.0"
     exon            452..511
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /inference="alignment:Splign:2.1.0"
     exon            512..603
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /inference="alignment:Splign:2.1.0"
     exon            604..638
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /inference="alignment:Splign:2.1.0"
     exon            639..718
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /inference="alignment:Splign:2.1.0"
     exon            719..818
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /inference="alignment:Splign:2.1.0"
     exon            819..943
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1048
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1175
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /inference="alignment:Splign:2.1.0"
     exon            1176..1357
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /inference="alignment:Splign:2.1.0"
     exon            1358..1708
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1681..1686
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /note="hexamer: AATAAA"
     polyA_site      1702
                     /gene="Hgd"
                     /gene_synonym="aku; Hgo"
                     /note="major polyA site"
ORIGIN      
        1 aacttgtgtg tcagttaagc aactctgccc tgagtgacct cccgaccaag gaaacacaga
       61 gaactggtaa aaatcaacaa catccgtcca gagaggagtt ttaaagagac acgggaacat
      121 tggtacctca caaactcctt ggcctgggtc tccctccagc agaagggaaa tggcagagtt
      181 aaagtacatt tctggatttg ggaatgagtg tgcttcagag gatcctcgct gtccaggttc
      241 cctgcccaaa ggacagaata atcctcaggt ctgcccctac aacctctacg ctgagcagct
      301 ctcgggatca gccttcactt gtccacggaa caccaataag agaagctggc tgtataggat
      361 tcttccttca gtttctcaca aaccctttga gtccatcgac caaggccatg tcactcacaa
      421 ctgggatgaa gttggccctg atcctaacca gctaagatgg aaaccatttg agattccaaa
      481 agcgtctgag aagaaagtgg actttgtgag tggtttgtac accttatgtg gagcaggaga
      541 catcaagtct aacaacggcc ttgctgtgca catttttctg tgtaactcct ccatggagaa
      601 caggtgcttt tacaactcag atggggattt cctgattgtt ccccagaaag ggaaacttct
      661 catttacacc gagtttggca agatgtccct gcagcccaat gaaatctgcg tcattcagag
      721 aggaatgcga ttcagcgtcg atgtctttga ggagaccagg ggctacatcc tggaggtcta
      781 tggtgtccac tttgagttac ctgacctggg acccatcgga gcaaatggct tggccaatcc
      841 tcgagatttc ttgattcccg ttgcctggta tgaagatcgt cgagtgccag gtggttacac
      901 tgtgattaat aaattccagg gcaagctgtt tgcttgcaaa caggatgtct ctccattcaa
      961 tgtcgtggcc tggcatggaa actacacacc ctacaagtac aacctagaga acttcatggt
     1021 catcaatgcg gtagcctttg accatgcgga tccttccatt ttcaccgtgc tgactgccaa
     1081 atccctccga cctggggtgg ctattgctga ctttgtcatc ttcccacctc ggtggggagt
     1141 tgcagataaa accttcagac ctccttatta ccacaggaac tgcatgagtg agttcatggg
     1201 cctcatcaaa ggtcactatg aggcaaagca aggtggattc ctgccagggg gcggcagcct
     1261 gcacagtgcc atgacccctc acggccccga tgcagactgc tttgaaaagg ccagcaaggc
     1321 caaactcgag ccagagagga tagctgacgg caccatggcg tttatgtttg aatcttcctt
     1381 aagtttggcg gtcaccaagt ggggactcaa gacctgtagc tgtttggatg agaactacta
     1441 caaatgttgg gagcctctcc ggagccactt cacccccaat tccaggagcc cgacagagcc
     1501 taagtgagac tggagccctc tactgtaatt gagaacagac ttgcatagct tccttgagat
     1561 cctcacagct ctgatgctac agggacagcg attgaaatga gagctcactt gtcatagtca
     1621 agaaactcag aatgtttgtg gacatgcatt cagaaatgcc tatggcttcc taaattactc
     1681 aataaatctg tgttctgtgg aagctgca
//
