LOCUS       NM_001320848            1431 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens fumarylacetoacetate hydrolase domain containing 2B
            (FAHD2B), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001320848 XM_005263892
VERSION     NM_001320848.2
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 1431)
  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   2  (bases 1 to 1431)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018892.8.
            
            On Nov 21, 2019 this sequence version replaced NM_001320848.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Variants 1 and 2
            both encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1583398.1,
                                           SRR14038191.2354911.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000414820.6/ ENSP00000410470.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-182               AC018892.8         69399-69580         c
            183-308             AC018892.8         66561-66686         c
            309-559             AC018892.8         66160-66410         c
            560-776             AC018892.8         64807-65023         c
            777-836             AC018892.8         60837-60896         c
            837-999             AC018892.8         60397-60559         c
            1000-1108           AC018892.8         58867-58975         c
            1109-1196           AC018892.8         58646-58733         c
            1197-1431           AC018892.8         58281-58515         c
FEATURES             Location/Qualifiers
     source          1..1431
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..1431
                     /gene="FAHD2B"
                     /note="fumarylacetoacetate hydrolase domain containing 2B"
                     /db_xref="GeneID:151313"
                     /db_xref="HGNC:HGNC:25318"
     exon            1..182
                     /gene="FAHD2B"
                     /inference="alignment:Splign:2.1.0"
     exon            183..308
                     /gene="FAHD2B"
                     /inference="alignment:Splign:2.1.0"
     exon            309..559
                     /gene="FAHD2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             315..1259
                     /gene="FAHD2B"
                     /EC_number="5.3.2.2"
                     /note="isoform a is encoded by transcript variant 1;
                     fumarylacetoacetate hydrolase domain-containing protein
                     2B; oxaloacetate tautomerase FAHD2B, mitochondrial"
                     /codon_start=1
                     /product="oxaloacetate tautomerase FAHD2B, mitochondrial
                     isoform a"
                     /protein_id="NP_001307777.1"
                     /db_xref="CCDS:CCDS2030.1"
                     /db_xref="GeneID:151313"
                     /db_xref="HGNC:HGNC:25318"
                     /translation="MLVSGRRRLLTALLQAQKWPFQPSRDMRLVQFRAPHLVGPHLGL
                     ETGNGGGVINLNAFDPTLPKTMTQFLEQGEATLSVARRALAAQLPVLPWSEVTFLAPV
                     TWPDKVVCVGMNYVDHCKEQNVPVPKEPIIFSKFASSIVGPYDEVVLPPQSQEVDWEV
                     ELAVVIGKKGKHIKATDAMAHVAGFTVAHDVSARDWLTRRNGKQWLLGKTFDTFCPLG
                     PALVTKDSVADPHNLKICCRVNGEVVQSSNTNQMVFKTEDLIAWVSQFVTFYPGDVIL
                     TGTPPGVGVFRKPPVFLKKGDEVQCEIEELGVIINKVV"
     exon            560..776
                     /gene="FAHD2B"
                     /inference="alignment:Splign:2.1.0"
     exon            777..836
                     /gene="FAHD2B"
                     /inference="alignment:Splign:2.1.0"
     exon            837..999
                     /gene="FAHD2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1108
                     /gene="FAHD2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1109..1196
                     /gene="FAHD2B"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1431
                     /gene="FAHD2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1406..1411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAHD2B"
                     /note="hexamer: AATAAA"
     polyA_site      1431
                     /gene="FAHD2B"
                     /note="major polyA site"
ORIGIN      
        1 acaggacgcg cccgcttctc gctggagtgc gcaccgagcg gcagtgactt cgccgctgct
       61 gtagttcccc ggctggatgc ggtgactggt gccagtgctc aggcgcccgc tgcccttgac
      121 ctcccgcccc gcgagcccta actcagcgca ggaggaccgg ctgccgccgc cgccgccgcc
      181 agcagagcca agcacagtgg gaactttcag aaagcactgg ttgaaggaac gctggaatcc
      241 ctgggactta ctgcgtagca tgtagtagtt gctcctctac aaaagtttca ccttatgaag
      301 tatagcaggc tctgatgctg gtgtctggta gaagaagatt actcacagct ctgctgcagg
      361 ctcagaagtg gccctttcaa ccctccagag acatgagact agtgcagttc cgggcacccc
      421 acctggtggg gcctcacttg ggcctggaga cagggaatgg tggaggggtt atcaacctca
      481 atgcctttga ccccacactc ccaaagacga tgacgcagtt cctagagcag ggagaggcca
      541 ccctctcagt ggcaagaaga gccttggctg cccagttgcc agtcctacca tggtcggagg
      601 taaccttcct ggctccagtc acatggccag ataaggtggt gtgtgtgggc atgaattatg
      661 tggaccactg caaagaacag aacgtgcccg tgcccaagga gcccatcatc ttcagcaagt
      721 ttgccagctc catcgtgggg ccctatgatg aggtggtcct cccaccacag agccaggagg
      781 tagattggga agtggagctg gccgtggtca ttggaaagaa aggcaagcac atcaaggcca
      841 cagatgccat ggcccacgtg gccggcttca ctgtggctca tgacgtgagt gctcgtgact
      901 ggctaacaag acgcaatggg aaacagtggc tgctgggaaa aaccttcgac accttctgcc
      961 ctctgggccc tgccttggtg accaaggaca gtgtagcaga tccacacaac ttaaagatct
     1021 gctgccgagt gaatggggaa gtcgtccaga gcagcaacac caaccagatg gtattcaaga
     1081 cagaggacct gatagcctgg gtctcccagt ttgttacctt ttacccaggg gatgtcatcc
     1141 taactgggac ccccccaggt gtcggtgtat tcaggaaacc tcctgtcttt ctcaagaagg
     1201 gggatgaagt ccagtgtgag attgaagaac taggtgtcat catcaacaag gtggtgtgat
     1261 ggctcctgca caggcccgac ataggatgag ggcatctgct cccactcagc ctagcccagg
     1321 gaaaggccca gtggcaggtg tgggcaggtg ccagccctgc aagccgcctc ttctcggtag
     1381 aagggagaag gacagagctc tcttcaataa atgcgtcggg tcaaagcagc a
//
