LOCUS       NM_014475               1064 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens dihydrodiol dehydrogenase (DHDH), mRNA.
ACCESSION   NM_014475
VERSION     NM_014475.4
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 1064)
  AUTHORS   Zyluk,A., Debniak,T. and Puchalski,P.
  TITLE     Common variants of the ALDH2 and DHDH genes and the risk of
            Dupuytren's disease
  JOURNAL   J Hand Surg Eur Vol 38 (4), 430-434 (2013)
   PUBMED   23303836
  REMARK    GeneRIF: Possible association of both variants of the DHDH gene
            with familial Dupuytren's disease, as over-representation of the
            rs2270941 and rs11666105 alterations was identified among 100
            patients with a familial history.
            Erratum:[J Hand Surg Eur Vol. 2013 Nov;38(9):1016]
REFERENCE   2  (bases 1 to 1064)
  AUTHORS   Zyluk,A. and Dibniak,T.
  TITLE     [A coexistence of the Dupuytren's disease and malignant neoplasms:
            a review]
  JOURNAL   Ann Acad Med Stetin 59 (1), 15-17 (2013)
   PUBMED   24734329
  REMARK    GeneRIF: Some genetical studies show also altered expression of the
            dehydrogenases ALDH2 and DHDH genes in patients with Dupuytren's
            disease and with digestive tract malignancies related to alcohol
            abuse.(review)
            Review article
REFERENCE   3  (bases 1 to 1064)
  AUTHORS   Guey,L.T., Garcia-Closas,M., Murta-Nascimento,C., Lloreta,J.,
            Palencia,L., Kogevinas,M., Rothman,N., Vellalta,G., Calle,M.L.,
            Marenne,G., Tardon,A., Carrato,A., Garcia-Closas,R., Serra,C.,
            Silverman,D.T., Chanock,S., Real,F.X. and Malats,N.
  CONSRTM   EPICURO/Spanish Bladder Cancer Study investigators
  TITLE     Genetic susceptibility to distinct bladder cancer subphenotypes
  JOURNAL   Eur Urol 57 (2), 283-292 (2010)
   PUBMED   19692168
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 1064)
  AUTHORS   Hosgood,H.D. 3rd, Zhang,L., Shen,M., Berndt,S.I., Vermeulen,R.,
            Li,G., Yin,S., Yeager,M., Yuenger,J., Rothman,N., Chanock,S.,
            Smith,M. and Lan,Q.
  TITLE     Association between genetic variants in VEGF, ERCC3 and
            occupational benzene haematotoxicity
  JOURNAL   Occup Environ Med 66 (12), 848-853 (2009)
   PUBMED   19773279
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 1064)
  AUTHORS   Hosgood,H.D. 3rd, Menashe,I., He,X., Chanock,S. and Lan,Q.
  TITLE     PTEN identified as important risk factor of chronic obstructive
            pulmonary disease
  JOURNAL   Respir Med 103 (12), 1866-1870 (2009)
   PUBMED   19625176
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1064)
  AUTHORS   Chang,H.C., Chen,Y.L., Chan,C.P., Yeh,K.T., Kuo,S.J., Ko,C.J. and
            Fang,H.Y.
  TITLE     Overexpression of dihydrodiol dehydrogenase as a prognostic marker
            in resected gastric cancer patients
  JOURNAL   Dig Dis Sci 54 (2), 342-347 (2009)
   PUBMED   18600452
  REMARK    GeneRIF: Survival was significantly better in gastric cancer
            patients with low DDH expression.
REFERENCE   7  (bases 1 to 1064)
  AUTHORS   Hosgood,H.D. 3rd, Menashe,I., Shen,M., Yeager,M., Yuenger,J.,
            Rajaraman,P., He,X., Chatterjee,N., Caporaso,N.E., Zhu,Y.,
            Chanock,S.J., Zheng,T. and Lan,Q.
  TITLE     Pathway-based evaluation of 380 candidate genes and lung cancer
            susceptibility suggests the importance of the cell cycle pathway
  JOURNAL   Carcinogenesis 29 (10), 1938-1943 (2008)
   PUBMED   18676680
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1064)
  AUTHORS   Aoki,S., Ishikura,S., Asada,Y., Usami,N. and Hara,A.
  TITLE     Identity of dimeric dihydrodiol dehydrogenase as NADP(+)-dependent
            D-xylose dehydrogenase in pig liver
  JOURNAL   Chem Biol Interact 130-132 (1-3), 775-784 (2001)
   PUBMED   11306093
  REMARK    GeneRIF: Comparison of other mammalian homologs with the human
            enzyme shows that dimeric DDs constitute a novel protein family.
REFERENCE   9  (bases 1 to 1064)
  AUTHORS   Asada,Y., Aoki,S., Ishikura,S., Usami,N. and Hara,A.
  TITLE     Roles of His-79 and Tyr-180 of D-xylose/dihydrodiol dehydrogenase
            in catalytic function
  JOURNAL   Biochem Biophys Res Commun 278 (2), 333-337 (2000)
   PUBMED   11097839
  REMARK    GeneRIF: Site-directed mutagenesis of conserved residues shows that
            Tyr-180 plays a critical role in the catalytic function of this
            enzyme, while His-79 is required in the coenzyme binding and
            chemical steps of the reaction.
REFERENCE   10 (bases 1 to 1064)
  AUTHORS   Arimitsu,E., Aoki,S., Ishikura,S., Nakanishi,K., Matsuura,K. and
            Hara,A.
  TITLE     Cloning and sequencing of the cDNA species for mammalian dimeric
            dihydrodiol dehydrogenases
  JOURNAL   Biochem J 342 Pt 3 (Pt 3), 721-728 (1999)
   PUBMED   10477285
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC032730.1 and BF510979.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014475.3.
            
            Summary: This gene encodes an enzyme that belongs to the family of
            dihydrodiol dehydrogenases, which exist in multiple forms in
            mammalian tissues and are involved in the metabolism of xenobiotics
            and sugars. These enzymes catalyze the NADP1-linked oxidation of
            transdihydrodiols of aromatic hydrocarbons to corresponding
            catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and
            it differs from monomeric dihydrodiol dehydrogenases in its high
            substrate specificity for trans-dihydrodiols of aromatic
            hydrocarbons in the oxidative direction. [provided by RefSeq, Jul
            2008].
            
            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 :: BC032730.1, SRR5189667.70683.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000221403.7/ ENSP00000221403.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1057              BC032730.1         29-1085
            1058-1064           BF510979.1         18-24               c
FEATURES             Location/Qualifiers
     source          1..1064
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..1064
                     /gene="DHDH"
                     /gene_synonym="2DD; HUM2DD"
                     /note="dihydrodiol dehydrogenase"
                     /db_xref="GeneID:27294"
                     /db_xref="HGNC:HGNC:17887"
                     /db_xref="MIM:606377"
     exon            1..113
                     /gene="DHDH"
                     /gene_synonym="2DD; HUM2DD"
                     /inference="alignment:Splign:2.1.0"
     exon            114..225
                     /gene="DHDH"
                     /gene_synonym="2DD; HUM2DD"
                     /inference="alignment:Splign:2.1.0"
     exon            226..389
                     /gene="DHDH"
                     /gene_synonym="2DD; HUM2DD"
                     /inference="alignment:Splign:2.1.0"
     exon            390..642
                     /gene="DHDH"
                     /gene_synonym="2DD; HUM2DD"
                     /inference="alignment:Splign:2.1.0"
     exon            643..767
                     /gene="DHDH"
                     /gene_synonym="2DD; HUM2DD"
                     /inference="alignment:Splign:2.1.0"
     exon            768..918
                     /gene="DHDH"
                     /gene_synonym="2DD; HUM2DD"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1064
                     /gene="DHDH"
                     /gene_synonym="2DD; HUM2DD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1043..1048
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DHDH"
                     /gene_synonym="2DD; HUM2DD"
                     /note="hexamer: AATAAA"
     polyA_site      1063
                     /gene="DHDH"
                     /gene_synonym="2DD; HUM2DD"
                     /note="major polyA site"
ORIGIN      
        1 gccgagggct ccgcatcgca accatggcgc tgcgctgggg catcgtgtct gtcggcctca
       61 tctccagcga cttcacagcc gtgctgcaga cgctgcctcg ctctgagcac caggtggtgg
      121 cggtggcggc ccgcgatctg agccgtgcga aggagtttgc acagaaacac gacatcccca
      181 aggcctacgg ctcctatgag gagctggcca aggacccgag cgtggaggtg gcctacattg
      241 gcacccagca cccccagcac aaggcggcgg tgatgctgtg cttggcggcg ggcaaggccg
      301 ttctgtgcga gaagcccacg ggcgtgaacg cggcggaagt tcgcgagatg gtcgcggagg
      361 cccgatcccg agccctcttc cttatggagg ccatctggac ccgcttcttt cctgcctccg
      421 aggctctgag gtctgttttg gcccagggaa ctctaggaga cctccgggtg gctcgggcag
      481 aatttgggaa gaatctcatc cacgttcccc gggccgtaga ccgggcccag gctggggggg
      541 ccctgctgga catcggcatc tactgtgtcc agttcacctc catggtcttt ggagggcaga
      601 agccagagaa gatttctgtc gtgggaaggc gtcatgaaac aggtgtggat gacactgtca
      661 cggtgctcct gcagtaccca ggggaggtcc atggcagctt cacctgcagc atcaccgtgc
      721 agctctccaa cacggcctcc gtgagcggca ccaagggcat ggtacagctc ctcaacccct
      781 gctggtgccc gaccgagctg gtggtgaagg gggagcataa ggagttcccg ctgcccccag
      841 tcccaaagga ctgcaatttt gacaacgggg caggcatgag ttatgaggcc aagcacgtct
      901 gggagtgcct acgcaagggt atgaaggaaa gtcctgtgat tcccctgtcg gaaagtgagc
      961 tcctggctga catccttgaa gaggtgagga aggccattgg agtcaccttc ccccaagaca
     1021 aacgctgatg tatccccgaa taaataaaga catcttacat cttc
//
