LOCUS       NM_031208               1705 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens fumarylacetoacetate hydrolase domain containing 1
            (FAHD1), transcript variant 2, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_031208
VERSION     NM_031208.4
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 1705)
  AUTHORS   Heberle,A., Cappuccio,E., Andric,A., Kuen,T., Simonini,A. and
            Weiss,A.K.H.
  TITLE     Mitochondrial enzyme FAHD1 reduces ROS in osteosarcoma
  JOURNAL   Sci Rep 14 (1), 9231 (2024)
   PUBMED   38649439
  REMARK    GeneRIF: Mitochondrial enzyme FAHD1 reduces ROS in osteosarcoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1705)
  AUTHORS   Zmuda,A.J., Kang,X., Wissbroecker,K.B., Freund Saxhaug,K.,
            Costa,K.C., Hegeman,A.D. and Niehaus,T.D.
  TITLE     A universal metabolite repair enzyme removes a strong inhibitor of
            the TCA cycle
  JOURNAL   Nat Commun 15 (1), 846 (2024)
   PUBMED   38287013
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1705)
  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   4  (bases 1 to 1705)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1705)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1705)
  AUTHORS   Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J.,
            Snippe,H., Hibberd,M.L. and Seielstad,M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1705)
  AUTHORS   Manjasetty,B.A., Niesen,F.H., Delbruck,H., Gotz,F., Sievert,V.,
            Bussow,K., Behlke,J. and Heinemann,U.
  TITLE     X-ray structure of fumarylacetoacetate hydrolase family member Homo
            sapiens FLJ36880
  JOURNAL   Biol Chem 385 (10), 935-942 (2004)
   PUBMED   15551868
REFERENCE   8  (bases 1 to 1705)
  AUTHORS   Lehner,B. and Sanderson,C.M.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   9  (bases 1 to 1705)
  AUTHORS   Daniels,R.J., Peden,J.F., Lloyd,C., Horsley,S.W., Clark,K.,
            Tufarelli,C., Kearney,L., Buckle,V.J., Doggett,N.A., Flint,J. and
            Higgs,D.R.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
REFERENCE   10 (bases 1 to 1705)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012180.6.
            
            On Apr 8, 2021 this sequence version replaced NM_031208.3.
            
            Transcript Variant: This variant (2) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (2)
            has a shorter and distinct C-terminus compared to isoform 1.
            
            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 is intronless :: AK094199.1, AL136720.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG   :: upstream AUG and CDS
                                                  extension is not conserved
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000427358.5/
                                                  ENSP00000398053.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1705              AC012180.6         64217-65921
FEATURES             Location/Qualifiers
     source          1..1705
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1705
                     /gene="FAHD1"
                     /gene_synonym="C16orf36; ODx; YISKL"
                     /note="fumarylacetoacetate hydrolase domain containing 1"
                     /db_xref="GeneID:81889"
                     /db_xref="HGNC:HGNC:14169"
                     /db_xref="MIM:616320"
     exon            1..1705
                     /gene="FAHD1"
                     /gene_synonym="C16orf36; ODx; YISKL"
                     /inference="alignment:Splign:2.1.0"
     CDS             34..699
                     /gene="FAHD1"
                     /gene_synonym="C16orf36; ODx; YISKL"
                     /EC_number="3.7.1.5"
                     /EC_number="4.1.1.112"
                     /EC_number="5.3.2.2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     fumarylacetoacetate hydrolase domain-containing protein 1;
                     YISK like/RJD15; yisK-like protein; acylpyruvase FAHD1,
                     mitochondrial; acylpyruvate hydrolase; OAA decarboxylase;
                     oxaloacetate decarboxylase; FAH domain-containing protein
                     1; oxaloacetate decarboxylase, mitochondrial; oxaloacetate
                     tautomerase FAHD1, mitochondrial"
                     /codon_start=1
                     /product="oxaloacetate tautomerase FAHD1, mitochondrial
                     isoform 2"
                     /protein_id="NP_112485.2"
                     /db_xref="CCDS:CCDS10448.2"
                     /db_xref="GeneID:81889"
                     /db_xref="HGNC:HGNC:14169"
                     /db_xref="MIM:616320"
                     /translation="MAASRPLSRFWEWGKNIVCVGRNYADHVREMRSAVLSEPVLFLK
                     PSTAYAPEGSPILMPAYTRNLHHELELGVVMGKRCRAVPEAAAMDYVGGYALCLDMTA
                     RDVQDECKKKGLPWTLAKSFTASCPVSAFVPKEKIPDPHKLKLWLKVNGELRQEGETS
                     SMIFSIPYIISYVSKIITLEEGDIILTGTPKGVGPVKENDEIEAGIHGLVSMTFKVEK
                     PEY"
     regulatory      1685..1690
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAHD1"
                     /gene_synonym="C16orf36; ODx; YISKL"
                     /note="hexamer: AATAAA"
     polyA_site      1705
                     /gene="FAHD1"
                     /gene_synonym="C16orf36; ODx; YISKL"
                     /note="major polyA site"
ORIGIN      
        1 cccacgtgac tacaggggca cttgatggga atcatggcag catccaggcc attgtcccgc
       61 ttctgggagt ggggaaagaa catcgtctgc gtggggagga actacgcgga ccacgtcagg
      121 gagatgcgca gcgcggtgtt gagcgagccc gtgctgttcc tgaagccgtc cacggcctac
      181 gcgcccgagg gctcgcccat cctcatgccc gcgtacactc gcaacctgca ccacgagctg
      241 gagctgggcg tggtgatggg caagcgctgc cgcgcagtcc ccgaggctgc ggccatggac
      301 tacgtgggcg gctatgccct gtgcctggat atgaccgccc gggacgtgca ggacgagtgc
      361 aagaagaagg ggctgccctg gactctggcg aagagcttca cggcgtcctg cccggtcagc
      421 gcgttcgtgc ccaaggagaa gatccctgac cctcacaagc tgaagctctg gctcaaggtc
      481 aacggcgaac tcagacagga gggtgagaca tcctccatga ttttttccat cccctacatc
      541 atcagctatg tttctaagat cataaccttg gaagaaggag atattatctt gactgggacg
      601 ccaaagggag ttggaccggt taaagaaaac gatgagatcg aggctggcat acacgggctg
      661 gtcagtatga catttaaagt ggaaaagcca gaatattgag ttatttctta acaagtttcg
      721 agagagaagg gagcaagaca agagcaagca acggctatta aatgtcacaa tcctttaatt
      781 agaaaccatt tattggccgg acgcggtggc tcacgcctgt aatcgcagca ctttgggagg
      841 ccgaggcggg cggctcacga cgtcaggaga tccagaccat cttggctaac agggtgaaac
      901 cccgtctcta ctaaaaatac aaaaaattag ccgggcgtgg tggcgggcgc ctgtagtccc
      961 agctactctg gaggctgagg caggagaatc aattgaaccc gggaggcgga gcttacagtg
     1021 agctgagatt gcgccactgt actcctgggc aacagcgaga ctccgtctca aaaaaaaaaa
     1081 aaaaaaaaga aaccatttat tttaaaaatg attagattgc tatgcctcaa ctcatagaag
     1141 atgaaccctt caagaaaacg tgaagtagaa cgggtgggcc agaaatgaaa acaggcaagt
     1201 aaagtatttc ttcggaaaac attttatcaa accaaatgtt aaaaagactt tccttttgta
     1261 aaactggatt agagaagact tttcagtggg ttatctctag gatgatcagt agttcagcac
     1321 ttaaaaactg cagagaaaac tgaaagttat gttccagata actttccgtt gtttaccaaa
     1381 ttttcttaga tttggtcatc atcaggaagc atttgtaaaa ataaaaatct ccacaaatta
     1441 ctggcccatc tcggacttgc tgaatcaatt tgataggatt aatctccagt gaagctgtgt
     1501 ttacagggca ttccaagtga ttcttatcag gaaatgtgaa aaacactcct gtacataatc
     1561 ggttaattta aaattttact taataagtga acaagtaatg aagatttcac ctgtttactt
     1621 agggtatcta cccagaccca tcgattctga gttcgggaga tgattttgaa attactgttt
     1681 tccaaataaa ggtgctccct tctaa
//
