LOCUS       NM_000187               1674 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.
ACCESSION   NM_000187 XM_001123365 XM_001125853 XM_001125869 XM_001125882
            XM_930683
VERSION     NM_000187.4
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 1674)
  AUTHORS   Abdelkhalek,Z.S., Mahmoud,I.G., Omair,H., Abdulhay,M. and
            Elmonem,M.A.
  TITLE     Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian
            patients with alkaptonuria
  JOURNAL   Sci Rep 13 (1), 14374 (2023)
   PUBMED   37658095
  REMARK    GeneRIF: Homogentisate 1,2-dioxygenase (HGD) gene variants in young
            Egyptian patients with alkaptonuria.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1674)
  AUTHORS   Bernini,A., Spiga,O. and Santucci,A.
  TITLE     Structure-Function Relationship of Homogentisate 1,2-dioxygenase:
            Understanding the Genotype-Phenotype Correlations in the Rare
            Genetic Disease Alkaptonuria
  JOURNAL   Curr Protein Pept Sci 24 (5), 380-392 (2023)
   PUBMED   36880186
  REMARK    GeneRIF: Structure-Function Relationship of Homogentisate
            1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations
            in the Rare Genetic Disease Alkaptonuria.
            Review article
REFERENCE   3  (bases 1 to 1674)
  AUTHORS   Tao,L., Deng,C., Ma,M., Zhang,Y., Duan,J., Li,Y., Fang,L., Zhou,Y.,
            He,X., Wang,Y., Wang,M. and Li,L.
  TITLE     A novel mutation in the homogentisate 1,2 dioxygenase gene
            identified in Chinese Hani pediatric patients with Alkaptonuria
  JOURNAL   Clin Chim Acta 532, 164-171 (2022)
   PUBMED   35550814
  REMARK    GeneRIF: A novel mutation in the homogentisate 1,2 dioxygenase gene
            identified in Chinese Hani pediatric patients with Alkaptonuria.
REFERENCE   4  (bases 1 to 1674)
  AUTHORS   Granadino,B., Beltran-Valero de Bernabe,D., Fernandez-Canon,J.M.,
            Penalva,M.A. and Rodriguez de Cordoba,S.
  TITLE     The human homogentisate 1,2-dioxygenase (HGO) gene
  JOURNAL   Genomics 43 (2), 115-122 (1997)
   PUBMED   9244427
REFERENCE   5  (bases 1 to 1674)
  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   6  (bases 1 to 1674)
  AUTHORS   Fernandez-Canon,J.M., Granadino,B., Beltran-Valero de Bernabe,D.,
            Renedo,M., Fernandez-Ruiz,E., Penalva,M.A. and Rodriguez de
            Cordoba,S.
  TITLE     The molecular basis of alkaptonuria
  JOURNAL   Nat Genet 14 (1), 19-24 (1996)
   PUBMED   8782815
REFERENCE   7  (bases 1 to 1674)
  AUTHORS   Hudecova,S., Strakova,Z. and Krizanova,O.
  TITLE     Purification of the homogentisic acid oxidase from mammalian liver
  JOURNAL   Int J Biochem Cell Biol 27 (12), 1357-1363 (1995)
   PUBMED   8581831
REFERENCE   8  (bases 1 to 1674)
  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   9  (bases 1 to 1674)
  AUTHORS   Pollak,M.R., Chou,Y.H., Cerda,J.J., Steinmann,B., La Du,B.N.,
            Seidman,J.G. and Seidman,C.E.
  TITLE     Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2
  JOURNAL   Nat Genet 5 (2), 201-204 (1993)
   PUBMED   8252048
REFERENCE   10 (bases 1 to 1674)
  AUTHORS   Introne,W.J., Perry,M. and Chen,M.
  TITLE     Alkaptonuria
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301627
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313563.1, AC133474.2 and
            AA861603.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000187.3.
            
            Summary: This gene encodes the enzyme homogentisate 1,2
            dioxygenase. This enzyme is involved in the catabolism of the amino
            acids tyrosine and phenylalanine. Mutations in this gene are the
            cause of the autosomal recessive metabolism disorder
            alkaptonuria.[provided by RefSeq, May 2010].
            
            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 :: Z75048.1, U63008.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000283871.10/ ENSP00000283871.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-367               AK313563.1         317-683
            368-368             AC133474.2         39937-39937
            369-1466            AK313563.1         685-1782
            1467-1674           AA861603.1         7-214               c
FEATURES             Location/Qualifiers
     source          1..1674
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     gene            1..1674
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /note="homogentisate 1,2-dioxygenase"
                     /db_xref="GeneID:3081"
                     /db_xref="HGNC:HGNC:4892"
                     /db_xref="MIM:607474"
     exon            1..143
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..1466
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /EC_number="1.13.11.5"
                     /note="homogentisicase; homogentisate oxidase;
                     homogentisic acid oxidase; homogentisate oxygenase"
                     /codon_start=1
                     /product="homogentisate 1,2-dioxygenase"
                     /protein_id="NP_000178.2"
                     /db_xref="CCDS:CCDS3000.1"
                     /db_xref="GeneID:3081"
                     /db_xref="HGNC:HGNC:4892"
                     /db_xref="MIM:607474"
                     /translation="MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQL
                     SGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEI
                     PKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQK
                     GNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGA
                     NGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYK
                     YNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYY
                     HRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIA
                     DGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN"
     exon            144..215
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /inference="alignment:Splign:2.1.0"
     exon            216..304
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /inference="alignment:Splign:2.1.0"
     exon            305..410
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /inference="alignment:Splign:2.1.0"
     exon            411..470
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /inference="alignment:Splign:2.1.0"
     exon            471..562
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /inference="alignment:Splign:2.1.0"
     exon            563..597
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /inference="alignment:Splign:2.1.0"
     exon            598..677
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /inference="alignment:Splign:2.1.0"
     exon            678..777
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /inference="alignment:Splign:2.1.0"
     exon            778..902
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /inference="alignment:Splign:2.1.0"
     exon            903..1007
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1134
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1316
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /inference="alignment:Splign:2.1.0"
     exon            1317..1674
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1650..1655
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /note="hexamer: AATAAA"
     polyA_site      1674
                     /gene="HGD"
                     /gene_synonym="AKU; HGO"
                     /note="major polyA site"
ORIGIN      
        1 agtgaagcgc agtgaagcag tgggaaccgg aatatccaaa gagtggtttg aaggagaaag
       61 aagcattgtg gctttatatc ctctgggcct gggtttcctg aagtcaccac acatagagga
      121 gagagaaaat ggctgagtta aagtacattt ctggatttgg gaatgagtgt tcttcagagg
      181 atcctcgctg cccaggttcc ctgccagaag gacagaataa tcctcaggtc tgcccctaca
      241 atctctatgc tgagcagctc tcaggatcgg ctttcacttg tccacggagc accaataaga
      301 gaagctggct gtataggatt ctaccttcag tttctcacaa gccctttgaa tccattgacg
      361 aaggccaagt cactcacaac tgggatgaag ttgatcctga tcctaaccag cttagatgga
      421 aaccatttga gattccaaaa gcatctcaga agaaagtaga ctttgtgagt ggcctgcata
      481 ccttgtgtgg agctggagac ataaagtcta acaatgggct tgctatccac attttcctct
      541 gcaatacctc catggagaac agatgctttt acaattcaga tggggacttc ttgattgttc
      601 cgcagaaagg gaaccttctc atttacaccg agtttggcaa gatgcttgta cagcccaatg
      661 agatctgcgt cattcagaga ggaatgcggt tcagcataga tgtctttgag gagaccaggg
      721 gctacatctt ggaggtctat ggtgtccact ttgagttacc tgaccttgga ccaattgggg
      781 ccaatggctt ggccaatcct cgtgatttct tgatacccat tgcctggtat gaggatcgcc
      841 aagtaccagg tggttacacg gtcattaata aataccaggg caagctgttt gctgccaaac
      901 aggatgtctc cccgttcaat gttgtggcct ggcacgggaa ttatacaccc tacaagtaca
      961 acctgaagaa tttcatggtt atcaactcag tggcctttga ccatgcagac ccatccattt
     1021 tcacagtatt gactgctaag tctgtccgcc ctggagtggc cattgctgat tttgtcatct
     1081 tcccacctcg atggggggtt gctgataaga ccttcaggcc tccttattac cataggaact
     1141 gcatgagtga gttcatggga ctcatccgag gtcactatga ggcaaagcaa ggtgggttcc
     1201 tgccaggggg agggagtcta cacagcacaa tgacccccca tggacctgat gctgactgct
     1261 ttgagaaggc cagcaaggtc aagctggcac ctgagaggat tgccgatggc accatggcat
     1321 ttatgtttga atcatcttta agtctggcgg tcacaaagtg gggactcaag gcctccaggt
     1381 gtttggatga gaactaccac aagtgctggg agccactcaa gagccacttc actcccaact
     1441 ccaggaaccc agcagaacct aattgagact ggaacattgc taccataatt aagagtagat
     1501 ttgtgaagat ttcttcagaa tctcatgctt tctggtagta ttggaggagg gggttggtta
     1561 aaatgaaaat tcacttttca tagtcaagta actcagaact tttatggaaa cgcatttgca
     1621 aagttctatg gctgtcacct taattactca ataaacttgc tggtgttctg tgga
//
