LOCUS       NM_144650               1972 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens alcohol dehydrogenase iron containing 1 (ADHFE1),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_144650 NM_001077593
VERSION     NM_144650.3
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 1972)
  AUTHORS   Li,B., Liu,S., Gao,Y., Zheng,L. and Lu,Y.
  TITLE     Combined detection of SDC2/ADHFE1/PPP2R5C methylation in stool DNA
            for colorectal cancer screening
  JOURNAL   J Cancer Res Clin Oncol 149 (12), 10241-10253 (2023)
   PUBMED   37270460
  REMARK    GeneRIF: Combined detection of SDC2/ADHFE1/PPP2R5C methylation in
            stool DNA for colorectal cancer screening.
REFERENCE   2  (bases 1 to 1972)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 1972)
  AUTHORS   Fan,J., Li,J., Guo,S., Tao,C., Zhang,H., Wang,W., Zhang,Y.,
            Zhang,D., Ding,S. and Zeng,C.
  TITLE     Genome-wide DNA methylation profiles of low- and high-grade adenoma
            reveals potential biomarkers for early detection of colorectal
            carcinoma
  JOURNAL   Clin Epigenetics 12 (1), 56 (2020)
   PUBMED   32317010
  REMARK    GeneRIF: Genome-wide DNA methylation profiles of low- and
            high-grade adenoma reveals potential biomarkers for early detection
            of colorectal carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1972)
  AUTHORS   Mishra,P., Tang,W., Putluri,V., Dorsey,T.H., Jin,F., Wang,F.,
            Zhu,D., Amable,L., Deng,T., Zhang,S., Killian,J.K., Wang,Y.,
            Minas,T.Z., Yfantis,H.G., Lee,D.H., Sreekumar,A., Bustin,M.,
            Liu,W., Putluri,N. and Ambs,S.
  TITLE     ADHFE1 is a breast cancer oncogene and induces metabolic
            reprogramming
  JOURNAL   J Clin Invest 128 (1), 323-340 (2018)
   PUBMED   29202474
  REMARK    GeneRIF: data support the hypothesis that ADHFE1 and MYC signaling
            contribute to D-2HG accumulation in breast tumors and show that
            D-2HG is an oncogenic metabolite and potential driver of disease
            progression.
REFERENCE   5  (bases 1 to 1972)
  AUTHORS   Moon,J.W., Lee,S.K., Lee,Y.W., Lee,J.O., Kim,N., Lee,H.J.,
            Seo,J.S., Kim,J., Kim,H.S. and Park,S.H.
  TITLE     Alcohol induces cell proliferation via hypermethylation of ADHFE1
            in colorectal cancer cells
  JOURNAL   BMC Cancer 14, 377 (2014)
   PUBMED   24886599
  REMARK    GeneRIF: These results demonstrate that the promoter
            hypermethylation of ADHFE1 is frequently present in CRC and alcohol
            induces methylation-mediated down expression of ADHFE1 and
            proliferation of CRC cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1972)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   7  (bases 1 to 1972)
  AUTHORS   Kardon,T., Noel,G., Vertommen,D. and Schaftingen,E.V.
  TITLE     Identification of the gene encoding hydroxyacid-oxoacid
            transhydrogenase, an enzyme that metabolizes 4-hydroxybutyrate
  JOURNAL   FEBS Lett 580 (9), 2347-2350 (2006)
   PUBMED   16616524
REFERENCE   8  (bases 1 to 1972)
  AUTHORS   Struys,E.A., Verhoeven,N.M., Ten Brink,H.J., Wickenhagen,W.V.,
            Gibson,K.M. and Jakobs,C.
  TITLE     Kinetic characterization of human hydroxyacid-oxoacid
            transhydrogenase: relevance to D-2-hydroxyglutaric and
            gamma-hydroxybutyric acidurias
  JOURNAL   J Inherit Metab Dis 28 (6), 921-930 (2005)
   PUBMED   16435184
REFERENCE   9  (bases 1 to 1972)
  AUTHORS   Yamada,S., Ohira,M., Horie,H., Ando,K., Takayasu,H., Suzuki,Y.,
            Sugano,S., Hirata,T., Goto,T., Matsunaga,T., Hiyama,E., Hayashi,Y.,
            Ando,H., Suita,S., Kaneko,M., Sasaki,F., Hashizume,K., Ohnuma,N.
            and Nakagawara,A.
  TITLE     Expression profiling and differential screening between
            hepatoblastomas and the corresponding normal livers: identification
            of high expression of the PLK1 oncogene as a poor-prognostic
            indicator of hepatoblastomas
  JOURNAL   Oncogene 23 (35), 5901-5911 (2004)
   PUBMED   15221005
REFERENCE   10 (bases 1 to 1972)
  AUTHORS   Deng,Y., Wang,Z., Gu,S., Ji,C., Ying,K., Xie,Y. and Mao,Y.
  TITLE     Cloning and characterization of a novel human alcohol dehydrogenase
            gene (ADHFe1)
  JOURNAL   DNA Seq 13 (5), 301-306 (2002)
   PUBMED   12592711
  REMARK    GeneRIF: cloned and characterized an iron-activated alcohol
            dehydrogenase gene, Fe-containing alcohol dehydrogenase 1 (ADHFe1)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY033237.1, BG698892.1, CB157325.1, BQ182872.1 and AC009879.8.
            
            On Nov 22, 2018 this sequence version replaced NM_144650.2.
            
            Summary: The ADHFE1 gene encodes hydroxyacid-oxoacid
            transhydrogenase (EC 1.1.99.24), which is responsible for the
            oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al.,
            2006 [PubMed 16616524]).[supplied by OMIM, Mar 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 :: SRR1803617.248999.1,
                                           SRR1803617.246887.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000396623.8/
                                                  ENSP00000379865.3
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-642               AY033237.1         7-648
            643-904             BG698892.1         206-467
            905-1171            AY033237.1         911-1177
            1172-1357           CB157325.1         169-354
            1358-1874           BQ182872.1         13-529              c
            1875-1972           AC009879.8         56964-57061         c
FEATURES             Location/Qualifiers
     source          1..1972
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.1"
     gene            1..1972
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /note="alcohol dehydrogenase iron containing 1"
                     /db_xref="GeneID:137872"
                     /db_xref="HGNC:HGNC:16354"
                     /db_xref="MIM:611083"
     exon            1..72
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..1417
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /EC_number="1.1.99.24"
                     /note="Fe-containing alcohol dehydrogenase 1; alcohol
                     dehydrogenase 8; alcohol dehydrogenase iron-containing
                     protein 1"
                     /codon_start=1
                     /product="hydroxyacid-oxoacid transhydrogenase,
                     mitochondrial"
                     /protein_id="NP_653251.2"
                     /db_xref="CCDS:CCDS6190.2"
                     /db_xref="GeneID:137872"
                     /db_xref="HGNC:HGNC:16354"
                     /db_xref="MIM:611083"
                     /translation="MAAAARARVAYLLRQLQRAACQCPTHSHTYSQAPGLSPSGKTTD
                     YAFEMAVSNIRYGAAVTKEVGMDLKNMGAKNVCLMTDKNLSKLPPVQVAMDSLVKNGI
                     PFTVYDNVRVEPTDSSFMEAIEFAQKGAFDAYVAVGGGSTMDTCKAANLYASSPHSDF
                     LDYVSAPIGKGKPVSVPLKPLIAVPTTSGTGSETTGVAIFDYEHLKVKIGITSRAIKP
                     TLGLIDPLHTLHMPARVVANSGFDVLCHALESYTTLPYHLRSPCPSNPITRPAYQGSN
                     PISDIWAIHALRIVAKYLKRAVRNPDDLEARSHMHLASAFAGIGFGNAGVHLCHGMSY
                     PISGLVKMYKAKDYNVDHPLVPHGLSVVLTSPAVFTFTAQMFPERHLEMAEILGADTR
                     TARIQDAGLVLADTLRKFLFDLDVDDGLAAVGYSKADIPALVKGTLPQERVTKLAPCP
                     QSEEDLAALFEASMKLY"
     exon            73..110
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /inference="alignment:Splign:2.1.0"
     exon            111..157
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /inference="alignment:Splign:2.1.0"
     exon            158..211
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /inference="alignment:Splign:2.1.0"
     exon            212..366
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /inference="alignment:Splign:2.1.0"
     exon            367..563
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /inference="alignment:Splign:2.1.0"
     exon            564..641
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /inference="alignment:Splign:2.1.0"
     exon            642..747
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /inference="alignment:Splign:2.1.0"
     exon            748..900
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /inference="alignment:Splign:2.1.0"
     exon            901..999
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1078
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /inference="alignment:Splign:2.1.0"
     exon            1079..1175
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /inference="alignment:Splign:2.1.0"
     exon            1176..1333
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /inference="alignment:Splign:2.1.0"
     exon            1334..1972
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1856..1861
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /note="hexamer: AATAAA"
     polyA_site      1874
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /note="major polyA site"
     regulatory      1956..1961
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
                     /note="hexamer: AGTAAA"
     polyA_site      1972
                     /gene="ADHFE1"
                     /gene_synonym="ADH8; HMFT2263; HOT"
ORIGIN      
        1 gactccaagc gccatggccg ctgccgcccg agcccgggtc gcgtacttgc tgaggcaact
       61 gcaacgcgca gcgtgccagt gcccaactca ttctcatact tactcccaag cccctggact
      121 ttcaccttct gggaaaacaa cagattatgc ctttgagatg gctgtttcaa atattagata
      181 tggagcagca gttacaaagg aagtaggaat ggacctaaaa aacatgggtg ctaaaaatgt
      241 gtgcttgatg acagacaaga acctctccaa gctccctcct gtgcaagtag ctatggattc
      301 cctagtgaag aatggcatcc cctttacggt ttatgataat gtgagagtgg aaccaacgga
      361 ttcaagcttc atggaagcta ttgagtttgc ccaaaaggga gcttttgatg cctatgttgc
      421 tgtcggtggt ggctctacca tggacacctg taaggctgct aatctgtatg catccagccc
      481 tcattctgat ttcctagatt atgtcagtgc ccccattggc aagggaaagc ctgtgtctgt
      541 gcctcttaag cctctgattg cagtgccaac tacctcagga accgggagtg aaactactgg
      601 ggttgccatt tttgactatg aacacttgaa agtaaaaatt ggcatcactt cgagagccat
      661 caaacccaca ctgggactga ttgatcctct gcacaccctc cacatgcctg cccgagtggt
      721 cgccaacagt ggctttgatg tgctttgcca tgccctggag tcatacacca ccctgcccta
      781 ccacctgcgg agcccctgcc cttcaaatcc catcacacgg cctgcgtacc agggcagcaa
      841 cccaatcagt gacatttggg ctatccacgc gctgcggatc gtggctaagt atctgaagag
      901 ggctgtcaga aatcccgatg atcttgaagc aaggtctcat atgcacttgg caagtgcttt
      961 tgctggcatc ggctttggaa atgctggtgt tcatctgtgc catggaatgt cttacccaat
     1021 ttcaggttta gtgaagatgt ataaagcaaa ggattacaat gtggatcacc cactggtgcc
     1081 ccatggcctt tctgtggtgc tcacgtcccc agcggtgttc actttcacgg cccagatgtt
     1141 tccagagcga cacctggaga tggcagaaat actgggagcc gacacccgca ctgccaggat
     1201 ccaagatgca gggctggtgt tggcagacac gctccggaaa ttcttattcg atctggatgt
     1261 tgatgatggc ctagcagctg ttggttactc caaagctgat atccccgcac tagtgaaagg
     1321 aacgctgccc caggaaaggg tcaccaagct tgcaccctgt ccccagtcag aagaggatct
     1381 ggctgctctg tttgaagctt caatgaaact gtattaattg tcattttaac tgaaagaatt
     1441 accgctggcc attgtagtgc tgagagcaag agctgatcta gctagggctt tgtcttttca
     1501 tctttgcgca taacttacct gttaccagta taggtgggat atacatttat cttgcaggaa
     1561 attccccaaa gctcagagtc cagttccttc cataaaacag gctggacaaa tgaccactat
     1621 gttagacccc caggctcgac ttcaggggtc agtgttcctg tcccaaaccc cacacagaat
     1681 actctgcctc tgtttcatgt agcaaatgag caaaaactca gtatctatca aaagtgtaaa
     1741 ttatatttcc tatgcctagt aattcacttc atgtctaaaa atttatctga tagaaacact
     1801 agcaccagta catacagaag catggcaagg atgtttctgg cagcactttt ctaataataa
     1861 aagatttgaa acaaccttaa gtattcatta ttggtatata gatcacttat agtatactag
     1921 acagtggaat actatggtac tgttaataaa gatgaagtaa atctcttgga aa
//
