LOCUS       NM_016044               4775 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens fumarylacetoacetate hydrolase domain containing 2A
            (FAHD2A), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_016044
VERSION     NM_016044.3
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 4775)
  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 4775)
  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 4775)
  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   4  (bases 1 to 4775)
  AUTHORS   Naukkarinen,J., Surakka,I., Pietilainen,K.H., Rissanen,A.,
            Salomaa,V., Ripatti,S., Yki-Jarvinen,H., van Duijn,C.M.,
            Wichmann,H.E., Kaprio,J., Taskinen,M.R. and Peltonen,L.
  CONSRTM   ENGAGE Consortium
  TITLE     Use of genome-wide expression data to mine the 'Gray Zone' of GWA
            studies leads to novel candidate obesity genes
  JOURNAL   PLoS Genet 6 (6), e1000976 (2010)
   PUBMED   20532202
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4775)
  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
  REMARK    GeneRIF: The X-ray structure of fumarylacetoacetate hydrolase
            family member FLJ36880 has been determined to 2.2 angstroms
            resolution employing the semi-automated high-throughput structural
            genomics approach.
REFERENCE   6  (bases 1 to 4775)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AA311902.1, BC110911.1 and AC009238.4.
            
            On Nov 24, 2018 this sequence version replaced NM_016044.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.751323.1,
                                           SRR5189655.64439.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000233379.9/ ENSP00000233379.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                AA311902.1         9-28
            21-1290             BC110911.1         1-1270
            1291-4775           AC009238.4         23642-27126         c
FEATURES             Location/Qualifiers
     source          1..4775
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.1"
     gene            1..4775
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /note="fumarylacetoacetate hydrolase domain containing 2A"
                     /db_xref="GeneID:51011"
                     /db_xref="HGNC:HGNC:24252"
     exon            1..165
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /inference="alignment:Splign:2.1.0"
     exon            166..416
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /inference="alignment:Splign:2.1.0"
     CDS             172..1116
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /EC_number="5.3.2.2"
                     /note="fumarylacetoacetate hydrolase domain containing 1;
                     fumarylacetoacetate hydrolase domain-containing protein
                     2A"
                     /codon_start=1
                     /product="oxaloacetate tautomerase FAHD2A, mitochondrial"
                     /protein_id="NP_057128.2"
                     /db_xref="CCDS:CCDS2014.1"
                     /db_xref="GeneID:51011"
                     /db_xref="HGNC:HGNC:24252"
                     /translation="MLVSGRRRLLTVLLQAQKWPFQPSRDMRLVQFRAPHLVGPHLGL
                     ETGNGGGVINLNAFDPTLPKTMTQFLEQGEATLSVARRALAAQLPVLPRSEVTFLAPV
                     TRPDKVVCVGMNYVDHCKEQNVPVPKEPIIFSKFASSIVGPYDEVVLPPQSQEVDWEV
                     ELAVVIGKKGKHIKATDAMAHVAGFTVAHDVSARDWQMRRNGKQWLLGKTFDTFCPLG
                     PALVTKDSVADPHNLKICCRVNGEVVQSGNTNQMVFKTEDLIAWVSQFVTFYPGDVIL
                     TGTPPGVGVFRKPPVFLKKGDEVQCEIEELGVIINKVV"
     exon            417..633
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /inference="alignment:Splign:2.1.0"
     exon            634..693
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /inference="alignment:Splign:2.1.0"
     exon            694..856
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /inference="alignment:Splign:2.1.0"
     exon            857..965
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1053
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..4775
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1265..1270
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /note="hexamer: AATAAA"
     polyA_site      1290
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /note="major polyA site"
     regulatory      4741..4746
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /note="hexamer: AATAAA"
     regulatory      4746..4751
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /note="hexamer: AAGAAA"
     regulatory      4754..4759
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
                     /note="hexamer: AACAAA"
     polyA_site      4762
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
     polyA_site      4768
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
     polyA_site      4775
                     /gene="FAHD2A"
                     /gene_synonym="CGI-105"
ORIGIN      
        1 gcttttctct cgggtgatcc ggccgagtgg ccctgggtta gcagctgctg catttccccg
       61 gctggctgcg gtcactggtg gcagtgctca ggcgcccgcc gcccttgacc ttcggccccg
      121 cgagctctaa ccctacagcg caggaagatc ggccgccgcg gccaggctct gatgctggtg
      181 tctggtagaa gaaggttact cacagttctg ctgcaggctc agaagtggcc ctttcaaccc
      241 tccagagaca tgagactagt gcagttccgg gcaccccacc tggtggggcc tcacttgggc
      301 ctggagacag ggaatggtgg aggggttatc aacctcaatg cctttgaccc cacactcccg
      361 aagacgatga cgcagttcct agagcaggga gaggccaccc tctcagtggc aagaagagcc
      421 ctggctgccc agttgccagt cctaccacgg tcggaggtaa ccttcctggc tccagtcaca
      481 cgaccagata aggtggtgtg tgtgggcatg aattatgtgg accactgcaa agaacagaac
      541 gtgcccgtgc ccaaggagcc catcatcttc agcaagtttg ccagctccat cgtggggccc
      601 tatgatgagg tggtcctccc accacagagc caggaggtag attgggaagt ggagctggcc
      661 gtggtcattg gaaagaaagg caagcacatc aaggccacag atgctatggc ccacgtggcc
      721 ggcttcactg tggctcatga cgtgagtgct cgtgactggc aaatgagacg taatgggaaa
      781 caatggctgc tgggaaaaac cttcgacacc ttctgccctc tgggccctgc cttggtgacc
      841 aaggacagtg tagcagatcc acacaactta aagatctgct gccgagtgaa tggggaagtg
      901 gtccagagcg gcaacaccaa ccagatggta ttcaagacag aggacctgat agcctgggtc
      961 tcccagtttg ttacctttta cccaggggat gtcatcctaa ctgggacccc cccaggtgtc
     1021 ggtgtattca ggaaacctcc tgtctttctc aagaaggggg atgaagtcca gtgtgagatt
     1081 gaagaactag gtgtcatcat caacaaggtg gtgtgatggc tcctgcacag gccctgcaca
     1141 taggatgagg gcatctgctc ccactcagcc tagcccaggg aaaggcccag tgacaggtgt
     1201 ggacaggtgc cagccctgca agccgcctct tctcggtaga agggagaagg acagagctct
     1261 cttcaataaa ttcgtcaggt caaagcagca gctttgcttc tgctgtttgt cttcttttgg
     1321 gctttgtttc atgggacaag ttggggcatt ttgtgggact ggggaagaag agagcaaata
     1381 cacacacata tgccaaaaag atgctgctgg gctggggaaa agacaattcg tgtcgtcccc
     1441 ttgtttatca catcaaagaa gggaaaaagc aagagatggc aagggacaat caagcctcaa
     1501 tgattatatt tatagctaag ggtttgcagc ctcctctcca tcttctggct ctaggacaca
     1561 gctgtgttct ggggctcaga agtctcagca caggctcctt ctcacagttc tagctacaag
     1621 tgaactgccg gatgaactgt tctagttttt cctgattgtc caggctggca aaagtagggg
     1681 acaggtggag cctggggcct gcagggctcg gcgtctgctg cagaacctgg gccatggaag
     1741 atgggccgtg agtgcactca ccacagggac tgtgtccaca tggcccaggg gccaggcctg
     1801 tcccccagaa acctgccttg agacctctga ccccttaggc ctcagtgttt gagtgcaaat
     1861 gctgcctcaa agcagcccca ataccccacc tagaaggatg agccagtgat ttgggagacc
     1921 aagaggcagg aaaccatccc accttctcca acccatcacc acgtctattg ctggaagaca
     1981 ccaagtaaat cccagggtct taatgaggca ccatcaggcc agccctgtgg ggtgatggga
     2041 acatagctgg gtttccctga gccactctat tggggtggga gcagggggac agaagatggt
     2101 gacactggct cctctcaccc ctaggtctct gaaggtccag atagcactga tggcaagctt
     2161 tgggtctgca cactctggaa agaagagaga agtgaaggct ctaggtaggg aggacaggga
     2221 gacactgggc acaggcttct ctcctcttgt ttaaagaagc ccagggaggg atagatctcc
     2281 gactggacag aagactactc tgcagcccgc cttcctagag ttgggttgtc actgtccggc
     2341 agggggcagc agccaccagc aaacaccact gcctgcagga gcctgggctg actggttggg
     2401 actcaccaaa gatcccttct tcctgggcgg tggcctgcag gaactggaac agctgttgga
     2461 gaggagaaga aaaagaagac atcaaaaaga aaatctagtg ctgggtggat atagagtatg
     2521 aagatgtgga gctgggaaaa cagaggatgt ggtgggatgg ggaaggaaag gttgtggaag
     2581 gcctgcaccc cgtctcagtt cctccactgc ttcgtcccag attctgtttt tgttttcctg
     2641 aatcagactt agtctccctc cattctcccg tcccctgtgt gcccccatcc tggtcctgcc
     2701 tcactggaca gcctctccgc ggccttcctc ctccctgctc cagaattcta cttggtgccc
     2761 cccaacccca ctcgactcat tgtccacctg gcctctgagg ccaggcaccc tcattcccct
     2821 ctcccaccca ccccacccaa ggaagcccag cacagaccat ctcatctcac tccaccatca
     2881 cttctttgcc aaatgcattt ccaaacaccc tcatgagctt tgctgatctc tttgccatct
     2941 ctccctgccc cactccgatg gctcctcctg cctggtgaag actgccctgg gtatcccaga
     3001 actgaacctg cagcagccag cacagctgac cttggggcga taagcagcca gggaaaggct
     3061 ttcttaaaaa aaaacaaaaa acaaaaccaa taactcagta agcagattaa acaaaggtag
     3121 agacggagcc ctccacccct ctcacacact catcctcaca cccagctata ccacacccca
     3181 caaatgttgc ttatgtttcc ttggtcattc tgtccatcct cctgtctgtc caaagccaag
     3241 gacactgctc tactctaaat tttttgtccc gaagccccca aatactgcaa ccctgaccca
     3301 atgcacgaag ccaccccaaa atacagcaga ggacaccagg actttcattt tccctcagta
     3361 tggcccatcc tttgggtatg ccaactccat gtccaccaag cactgcatgt aggacagggc
     3421 acagtttgga ggccttggtc cagccactgc cccagaccca ccttggctct ctcctcacta
     3481 acacccgaga agcccagact tcccagtgtt tagcaacaga ttaaactcta agccaacaac
     3541 aacagaacag ggtggagtga gtggaaagca aatgaaatgt taaaaaaaaa aaaaaagcaa
     3601 tacttgcatt ctcattagta ggaacatgtg agatgaagca tgttatgtta ttaggcattc
     3661 tcttgattcg gtaaacacaa gctgaataaa tttataaata tcagcattaa gcgagattta
     3721 acggggagct gtttatcttc tgcctgtcag gcaggcggca acactctcca tgtatcactc
     3781 gccagccgtg cagtcctcac tctcttgccc aggtaagctg gggaagagcc tgctgccgcc
     3841 cagctctggt tgtggaaggg ctggcaccaa ggagctgcga gcttacctca actcatctca
     3901 cctcaccatg ccggctgcga ggcggcccgt gcagtccgtg cgcaggaggt cacactccca
     3961 tgctgcatcc cagcccctcc agaagcagag catgacctgg gtgactttga ggatgctatt
     4021 taacctctct aagctaaagc tcctcgactg cagcatcaac agatcagtgc cgacctgtta
     4081 aggccgtcga gagcatcaaa tgctactgtt cagcaggtgc ctgacacata gtaggtccac
     4141 aagcaaatga ttttcctgct tgcatcattt ctagcacaga gctggaggaa atggcgaggt
     4201 gcaggtggcc gctgggccct gctgttctac atgggagcaa gacagctgct aggtgaaggg
     4261 gaatgaccag gcagccacag ggaggacatg tggcctcagg aagcctgggt gtgtatcctg
     4321 gttctgctag gaacacgtgt ggggctttgt gtgggtgact ctctggctcc ccaagcctcc
     4381 ctttcctact gttatatcct taaagtgcct ctgaggccaa agcctttgtg gcaattgtca
     4441 aatgagtcca tatgcagtga gtaccgtgtt gagggaggac aaggtcacca agagctgaga
     4501 atgtttctcc gactgatgag acctagatat tgggtacatg gaggtccccg gtccctttgt
     4561 gattcctgca gcctgttgcc tccttgcctg gaccccgcct cagctcagaa agccaattcc
     4621 ctagattcca aaggccttcc cagaccaatt agcatgtcct gcagctgtca gctccctgtg
     4681 cctagcctgg acctcagctc atgtctagca cccagtctcc caaccccaca catattcaca
     4741 aataaaagaa aataacaaat gacatgaatt cttca
//
