LOCUS       NM_017181               1493 bp    mRNA    linear   ROD 09-FEB-2025
DEFINITION  Rattus norvegicus fumarylacetoacetate hydrolase (Fah), mRNA.
ACCESSION   NM_017181
VERSION     NM_017181.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 1493)
  AUTHORS   Cheng,Q., Wei,T., Jia,Y., Farbiak,L., Zhou,K., Zhang,S., Wei,Y.,
            Zhu,H. and Siegwart,D.J.
  TITLE     Dendrimer-Based Lipid Nanoparticles Deliver Therapeutic FAH mRNA to
            Normalize Liver Function and Extend Survival in a Mouse Model of
            Hepatorenal Tyrosinemia Type I
  JOURNAL   Adv Mater 30 (52), e1805308 (2018)
   PUBMED   30368954
REFERENCE   2  (bases 1 to 1493)
  AUTHORS   Shao,Y., Wang,L., Guo,N., Wang,S., Yang,L., Li,Y., Wang,M., Yin,S.,
            Han,H., Zeng,L., Zhang,L., Hui,L., Ding,Q., Zhang,J., Geng,H.,
            Liu,M. and Li,D.
  TITLE     Cas9-nickase-mediated genome editing corrects hereditary
            tyrosinemia in rats
  JOURNAL   J Biol Chem 293 (18), 6883-6892 (2018)
   PUBMED   29507093
  REMARK    Erratum:[J Biol Chem. 2019 May 24;294(21):8348. doi:
            10.1074/jbc.AAC119.009120.. PMID: 31127060]
REFERENCE   3  (bases 1 to 1493)
  AUTHORS   Blackburn,P.R., Hickey,R.D., Nace,R.A., Giama,N.H., Kraft,D.L.,
            Bordner,A.J., Chaiteerakij,R., McCormick,J.B., Radulovic,M.,
            Graham,R.P., Torbenson,M.S., Tortorelli,S., Scott,C.R.,
            Lindor,N.M., Milliner,D.S., Oglesbee,D., Al-Qabandi,W., Grompe,M.,
            Gavrilov,D.K., El-Youssef,M., Clark,K.J., Atwal,P.S., Roberts,L.R.,
            Klee,E.W. and Ekker,S.C.
  TITLE     Silent Tyrosinemia Type I Without Elevated Tyrosine or
            Succinylacetone Associated with Liver Cirrhosis and Hepatocellular
            Carcinoma
  JOURNAL   Hum Mutat 37 (10), 1097-1105 (2016)
   PUBMED   27397503
REFERENCE   4  (bases 1 to 1493)
  AUTHORS   Zhang,L., Shao,Y., Li,L., Tian,F., Cen,J., Chen,X., Hu,D., Zhou,Y.,
            Xie,W., Zheng,Y., Ji,Y., Liu,M., Li,D. and Hui,L.
  TITLE     Efficient liver repopulation of transplanted hepatocyte prevents
            cirrhosis in a rat model of hereditary tyrosinemia type I
  JOURNAL   Sci Rep 6, 31460 (2016)
   PUBMED   27510266
  REMARK    GeneRIF: Using CRISPR/Cas9 technique, Fah(-/-) rats were generated.
            They faithfully represented major phenotypic and biochemical
            manifestations of human ereditary tyrosinemia type I (HT1),
            including hypertyrosinemia, liver failure, and renal tubular
            damage. More importantly, they developed remarkable liver fibrosis
            and cirrhosis which can be prevented with wild-type hepatocytes
            transplantation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1493)
  AUTHORS   Vicente-Vicente,L., Sanchez-Juanes,F., Garcia-Sanchez,O.,
            Blanco-Gozalo,V., Pescador,M., Sevilla,M.A.,
            Gonzalez-Buitrago,J.M., Lopez-Hernandez,F.J., Lopez-Novoa,J.M. and
            Morales,A.I.
  TITLE     Sub-nephrotoxic cisplatin sensitizes rats to acute renal failure
            and increases urinary excretion of fumarylacetoacetase
  JOURNAL   Toxicol Lett 234 (2), 99-109 (2015)
   PUBMED   25677510
  REMARK    GeneRIF: Urinary excretion of fumarylacetoacetase is a potential
            biomarker candidate of predisposition to kidney injury induced by
            sub-toxic administration of cisplatin.
REFERENCE   6  (bases 1 to 1493)
  AUTHORS   Aponte,J.L., Sega,G.A., Hauser,L.J., Dhar,M.S., Withrow,C.M.,
            Carpenter,D.A., Rinchik,E.M., Culiat,C.T. and Johnson,D.K.
  TITLE     Point mutations in the murine fumarylacetoacetate hydrolase gene:
            Animal models for the human genetic disorder hereditary tyrosinemia
            type 1
  JOURNAL   Proc Natl Acad Sci U S A 98 (2), 641-645 (2001)
   PUBMED   11209059
REFERENCE   7  (bases 1 to 1493)
  AUTHORS   Endo,F., Kubo,S., Awata,H., Kiwaki,K., Katoh,H., Kanegae,Y.,
            Saito,I., Miyazaki,J., Yamamoto,T., Jakobs,C., Hattori,S. and
            Matsuda,I.
  TITLE     Complete rescue of lethal albino c14CoS mice by null mutation of
            4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of
            hepatocytes in these mice by in vivo retrieval of the tyrosine
            catabolic pathway
  JOURNAL   J Biol Chem 272 (39), 24426-24432 (1997)
   PUBMED   9305902
REFERENCE   8  (bases 1 to 1493)
  AUTHORS   Grompe,M., Lindstedt,S., al-Dhalimy,M., Kennaway,N.G.,
            Papaconstantinou,J., Torres-Ramos,C.A., Ou,C.N. and Finegold,M.
  TITLE     Pharmacological correction of neonatal lethal hepatic dysfunction
            in a murine model of hereditary tyrosinaemia type I
  JOURNAL   Nat Genet 10 (4), 453-460 (1995)
   PUBMED   7545495
REFERENCE   9  (bases 1 to 1493)
  AUTHORS   Labelle,Y., Phaneuf,D., Leclerc,B. and Tanguay,R.M.
  TITLE     Characterization of the human fumarylacetoacetate hydrolase gene
            and identification of a missense mutation abolishing enzymatic
            activity
  JOURNAL   Hum Mol Genet 2 (7), 941-946 (1993)
   PUBMED   8364576
REFERENCE   10 (bases 1 to 1493)
  AUTHORS   Labelle,Y., Phaneuf,D. and Tanguay,R.M.
  TITLE     Cloning and expression analysis of a cDNA encoding
            fumarylacetoacetate hydrolase: post-transcriptional modulation in
            rat liver and kidney
  JOURNAL   Gene 104 (2), 197-202 (1991)
   PUBMED   1916290
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC076381.1.
            
            On Jul 12, 2004 this sequence version replaced NM_017181.1.
            
            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 exon combination :: BC076381.1, M77694.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA5760400, SAMEA5760494
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1493
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="1"
                     /map="1q31"
     gene            1..1493
                     /gene="Fah"
                     /note="fumarylacetoacetate hydrolase"
                     /db_xref="GeneID:29383"
                     /db_xref="RGD:61932"
     exon            1..181
                     /gene="Fah"
                     /inference="alignment:Splign:2.1.0"
     CDS             101..1360
                     /gene="Fah"
                     /EC_number="3.7.1.2"
                     /note="FAA; beta-diketonase"
                     /codon_start=1
                     /product="fumarylacetoacetase"
                     /protein_id="NP_058877.1"
                     /db_xref="GeneID:29383"
                     /db_xref="RGD:61932"
                     /translation="MSFIPVAEDSDFPIQNLPYGVFSTQSNPKPRIGVAIGDQILDLS
                     VIKHLFTGPVLSKHQHVFDETTLNSFMGLGQAAWKEARASLQNLLSASQAQLRDDKEL
                     RQRAFTSQASATMHLPATIGDYTDFYSSLQHATNVGIMFRGKENALLPNWLHLPVGYH
                     GRASSVVVSGTPIRRPMGQMRPDNSKPPVYGASKRLDMELEMAFFVGPGNRFGEPIPI
                     SKAQEHIFGMVLMNDWSARDIQQWEYVPLGPFLGKSFGTTISPWVVPMDALMPFVVPN
                     PKQDPKPLPYLCHSQPYTFDINLSVALKGEGMSQAATICRSNFKHMYWTILQQLTHHS
                     VNGCNLRPGDLLASGTISGSDPESFGSMLELSWKGTKAIDVGQGQTRTFLLDGDEVII
                     TGHCQGDGYRVGFGQCAGKVLPALSPA"
     exon            182..292
                     /gene="Fah"
                     /inference="alignment:Splign:2.1.0"
     exon            293..414
                     /gene="Fah"
                     /inference="alignment:Splign:2.1.0"
     exon            415..464
                     /gene="Fah"
                     /inference="alignment:Splign:2.1.0"
     exon            465..555
                     /gene="Fah"
                     /inference="alignment:Splign:2.1.0"
     exon            556..653
                     /gene="Fah"
                     /inference="alignment:Splign:2.1.0"
     exon            654..706
                     /gene="Fah"
                     /inference="alignment:Splign:2.1.0"
     exon            707..806
                     /gene="Fah"
                     /inference="alignment:Splign:2.1.0"
     exon            807..937
                     /gene="Fah"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1013
                     /gene="Fah"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1060
                     /gene="Fah"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1162
                     /gene="Fah"
                     /inference="alignment:Splign:2.1.0"
     exon            1163..1280
                     /gene="Fah"
                     /inference="alignment:Splign:2.1.0"
     exon            1281..1464
                     /gene="Fah"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 tgaatctaaa ggctctcagc taggctgatc tttgccctaa gcataatccc gctagccaac
       61 ccctacccgt tgtgggttct gctgcccagt gctcttcagc atgtccttta ttccggtggc
      121 cgaggactcc gactttccca tccaaaacct gccctatggc gttttctcca ctcaaagcaa
      181 cccaaagcca cggattggtg tggccatcgg tgaccagatc ttggacctga gtgtcattaa
      241 acacctcttt accggacctg tcctctccaa acatcagcat gtcttcgatg agacaactct
      301 caatagcttt atgggcctcg gccaagcggc atggaaggag gcaagagcat ccttacagaa
      361 cttactgtct gccagccaag cccagctcag agatgacaag gagcttcggc agcgtgcatt
      421 cacctcccag gcttctgcca cgatgcacct tcctgctacc ataggagact acacggactt
      481 ctactcctct ctgcagcatg ccactaacgt tggcattatg ttcaggggca aggagaatgc
      541 gctgttgccc aattggctcc acttacctgt gggataccat ggccgagctt cctccgttgt
      601 ggtgtctggt accccaattc gaagacccat gggacagatg agacctgata actcaaagcc
      661 tcctgtgtat ggtgccagca aacgcttaga catggagttg gaaatggctt tctttgtagg
      721 ccctgggaac agattcggcg agccaatccc catttccaag gcccaggagc acattttcgg
      781 gatggtcctc atgaacgact ggagtgctcg agacatccag caatgggagt acgtccccct
      841 tgggccattc ctggggaaaa gttttggaac caccatctcc ccatgggtgg tgcccatgga
      901 tgctctcatg ccctttgtgg tgccaaaccc aaagcaggac cctaagcccc tgccatatct
      961 ctgccacagc cagccctaca catttgatat caacctgtcc gttgctttga aaggagaagg
     1021 aatgagccag gcagctacca tctgcaggtc caactttaag cacatgtact ggaccattct
     1081 gcagcaactg acacaccact ctgttaatgg atgcaatctg agacctgggg acctcttggc
     1141 ttctggaacc atcagtggat cagaccctga aagctttggc tccatgctgg aactgtcctg
     1201 gaagggaaca aaggctatcg atgtggggca ggggcaaacc aggacctttc ttctggacgg
     1261 agatgaagtc atcataacag gtcactgcca gggggatggc taccgtgttg gttttggcca
     1321 atgtgctggg aaagtgctgc ctgccctctc gccagcctga agctccagaa tccacagaac
     1381 acagccttgc cttgtgagga tcatactgca actgcatgag tcaggaatga ataaagctat
     1441 tttgattggg gaagtgccac agaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaa
//
