LOCUS       NM_010176               1597 bp    mRNA    linear   ROD 06-JUN-2024
DEFINITION  Mus musculus fumarylacetoacetate hydrolase (Fah), mRNA.
ACCESSION   NM_010176
VERSION     NM_010176.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1597)
  AUTHORS   Miura,S., Horisawa,K., Iwamori,T., Tsujino,S., Inoue,K.,
            Karasawa,S., Yamamoto,J., Ohkawa,Y., Sekiya,S. and Suzuki,A.
  TITLE     Hepatocytes differentiate into intestinal epithelial cells through
            a hybrid epithelial/mesenchymal cell state in culture
  JOURNAL   Nat Commun 15 (1), 3940 (2024)
   PUBMED   38750036
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1597)
  AUTHORS   Zwirner,S., Abu Rmilah,A.A., Klotz,S., Pfaffenroth,B.,
            Kloevekorn,P., Moschopoulou,A.A., Schuette,S., Haag,M., Selig,R.,
            Li,K., Zhou,W., Nelson,E., Poso,A., Chen,H., Amiot,B., Jia,Y.,
            Minshew,A., Michalak,G., Cui,W., Rist,E., Longerich,T., Jung,B.,
            Felgendreff,P., Trompak,O., Premsrirut,P.K., Gries,K.,
            Muerdter,T.E., Heinkele,G., Wuestefeld,T., Shapiro,D.,
            Weissbach,M., Koenigsrainer,A., Sipos,B., Ab,E., Zacarias,M.O.,
            Theisgen,S., Gruenheit,N., Biskup,S., Schwab,M., Albrecht,W.,
            Laufer,S., Nyberg,S. and Zender,L.
  TITLE     First-in-class MKK4 inhibitors enhance liver regeneration and
            prevent liver failure
  JOURNAL   Cell 187 (7), 1666-1684 (2024)
   PUBMED   38490194
REFERENCE   3  (bases 1 to 1597)
  AUTHORS   Bateman,R.L., Bhanumoorthy,P., Witte,J.F., McClard,R.W., Grompe,M.
            and Timm,D.E.
  TITLE     Mechanistic inferences from the crystal structure of
            fumarylacetoacetate hydrolase with a bound phosphorus-based
            inhibitor
  JOURNAL   J Biol Chem 276 (18), 15284-15291 (2001)
   PUBMED   11154690
REFERENCE   4  (bases 1 to 1597)
  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   5  (bases 1 to 1597)
  AUTHORS   Timm,D.E., Mueller,H.A., Bhanumoorthy,P., Harp,J.M. and Bunick,G.J.
  TITLE     Crystal structure and mechanism of a carbon-carbon bond hydrolase
  JOURNAL   Structure 7 (9), 1023-1033 (1999)
   PUBMED   10508789
REFERENCE   6  (bases 1 to 1597)
  AUTHORS   St-Louis,M. and Tanguay,R.M.
  TITLE     Mutations in the fumarylacetoacetate hydrolase gene causing
            hereditary tyrosinemia type I: overview
  JOURNAL   Hum Mutat 9 (4), 291-299 (1997)
   PUBMED   9101289
  REMARK    Review article
REFERENCE   7  (bases 1 to 1597)
  AUTHORS   Grompe,M., al-Dhalimy,M., Finegold,M., Ou,C.N., Burlingame,T.,
            Kennaway,N.G. and Soriano,P.
  TITLE     Loss of fumarylacetoacetate hydrolase is responsible for the
            neonatal hepatic dysfunction phenotype of lethal albino mice
  JOURNAL   Genes Dev 7 (12A), 2298-2307 (1993)
   PUBMED   8253378
REFERENCE   8  (bases 1 to 1597)
  AUTHORS   Kelsey,G., Ruppert,S., Beermann,F., Grund,C., Tanguay,R.M. and
            Schutz,G.
  TITLE     Rescue of mice homozygous for lethal albino deletions: implications
            for an animal model for the human liver disease tyrosinemia type 1
  JOURNAL   Genes Dev 7 (12A), 2285-2297 (1993)
   PUBMED   8253377
REFERENCE   9  (bases 1 to 1597)
  AUTHORS   Grompe,M. and al-Dhalimy,M.
  TITLE     Nucleotide sequence of a cDNA encoding murine fumarylacetoacetate
            hydrolase
  JOURNAL   Biochem Med Metab Biol 48 (1), 26-31 (1992)
   PUBMED   1524868
REFERENCE   10 (bases 1 to 1597)
  AUTHORS   Kelsey,G., Ruppert,S., Schedl,A., Schmid,E., Thies,E. and Schutz,G.
  TITLE     Multiple effects on liver-specific gene expression in albino lethal
            mice caused by deficiency of an enzyme in tyrosine metabolism
  JOURNAL   J Cell Sci Suppl 16, 117-122 (1992)
   PUBMED   1297646
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY265969.1, BY293890.1, AK158808.1 and AI848212.1.
            
            On Jun 18, 2009 this sequence version replaced NM_010176.3.
            
            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 :: AK158808.1, AK143759.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849386, SAMN01164134
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                BY265969.1         335-353
            20-115              BY293890.1         2-97
            116-1578            AK158808.1         2-1464
            1579-1597           AI848212.1         1-19                c
FEATURES             Location/Qualifiers
     source          1..1597
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="7"
                     /map="7 48.36 cM"
     gene            1..1597
                     /gene="Fah"
                     /gene_synonym="swst"
                     /note="fumarylacetoacetate hydrolase"
                     /db_xref="GeneID:14085"
                     /db_xref="MGI:MGI:95482"
     exon            1..300
                     /gene="Fah"
                     /gene_synonym="swst"
                     /inference="alignment:Splign:2.1.0"
     CDS             220..1479
                     /gene="Fah"
                     /gene_synonym="swst"
                     /EC_number="3.7.1.2"
                     /note="beta-diketonase; FAA"
                     /codon_start=1
                     /product="fumarylacetoacetase"
                     /protein_id="NP_034306.2"
                     /db_xref="CCDS:CCDS21418.1"
                     /db_xref="GeneID:14085"
                     /db_xref="MGI:MGI:95482"
                     /translation="MSFIPVAEDSDFPIQNLPYGVFSTQSNPKPRIGVAIGDQILDLS
                     VIKHLFTGPALSKHQHVFDETTLNNFMGLGQAAWKEARASLQNLLSASQARLRDDKEL
                     RQRAFTSQASATMHLPATIGDYTDFYSSRQHATNVGIMFRGKENALLPNWLHLPVGYH
                     GRASSIVVSGTPIRRPMGQMRPDNSKPPVYGACRLLDMELEMAFFVGPGNRFGEPIPI
                     SKAHEHIFGMVLMNDWSARDIQQWEYVPLGPFLGKSFGTTISPWVVPMDALMPFVVPN
                     PKQDPKPLPYLCHSQPYTFDINLSVSLKGEGMSQAATICRSNFKHMYWTMLQQLTHHS
                     VNGCNLRPGDLLASGTISGSDPESFGSMLELSWKGTKAIDVEQGQTRTFLLDGDEVII
                     TGHCQGDGYRVGFGQCAGKVLPALSPA"
     exon            301..411
                     /gene="Fah"
                     /gene_synonym="swst"
                     /inference="alignment:Splign:2.1.0"
     exon            412..533
                     /gene="Fah"
                     /gene_synonym="swst"
                     /inference="alignment:Splign:2.1.0"
     exon            534..583
                     /gene="Fah"
                     /gene_synonym="swst"
                     /inference="alignment:Splign:2.1.0"
     exon            584..674
                     /gene="Fah"
                     /gene_synonym="swst"
                     /inference="alignment:Splign:2.1.0"
     exon            675..772
                     /gene="Fah"
                     /gene_synonym="swst"
                     /inference="alignment:Splign:2.1.0"
     exon            773..825
                     /gene="Fah"
                     /gene_synonym="swst"
                     /inference="alignment:Splign:2.1.0"
     exon            826..925
                     /gene="Fah"
                     /gene_synonym="swst"
                     /inference="alignment:Splign:2.1.0"
     exon            926..1056
                     /gene="Fah"
                     /gene_synonym="swst"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1132
                     /gene="Fah"
                     /gene_synonym="swst"
                     /inference="alignment:Splign:2.1.0"
     exon            1133..1179
                     /gene="Fah"
                     /gene_synonym="swst"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1281
                     /gene="Fah"
                     /gene_synonym="swst"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..1399
                     /gene="Fah"
                     /gene_synonym="swst"
                     /inference="alignment:Splign:2.1.0"
     exon            1400..1585
                     /gene="Fah"
                     /gene_synonym="swst"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1549..1554
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Fah"
                     /gene_synonym="swst"
                     /note="hexamer: AATAAA"
     polyA_site      1579
                     /gene="Fah"
                     /gene_synonym="swst"
                     /note="major polyA site"
ORIGIN      
        1 gggtgctaaa agaatcacta gggtggggag gcggtcccag tggggcgggt aggggtgtgt
       61 gccaggtggt accgggtatt ggctggagga agggcagccc ggggttcggg gcggtccctg
      121 aatctaaagg ccctcggcta gtctgatcct tgccctaagc atagtcccgt tagccaaccc
      181 cctacccgcc gtgggctctg ctgcccggtg ctcgtcagca tgtcctttat tccagtggcc
      241 gaggactccg actttcccat ccaaaacctg ccctatggtg ttttctccac tcaaagcaac
      301 ccaaagccac ggattggtgt agccatcggt gaccagatct tggacctgag tgtcattaaa
      361 cacctcttta ccggacctgc cctttccaaa catcaacatg tcttcgatga gacaactctc
      421 aataacttca tgggtctggg tcaagctgca tggaaggagg caagagcatc cttacagaac
      481 ttactgtctg ccagccaagc ccggctcaga gatgacaagg agcttcggca gcgtgcattc
      541 acctcccagg cttctgcgac aatgcacctt cctgctacca taggagacta cacggacttc
      601 tactcttctc ggcagcatgc caccaatgtt ggcattatgt tcagaggcaa ggagaatgcg
      661 ctgttgccaa attggctcca cttacctgtg ggataccatg gccgagcttc ctccattgtg
      721 gtatctggaa ccccgattcg aagacccatg gggcagatga gacctgataa ctcaaagcct
      781 cctgtgtatg gtgcctgcag actcttagac atggagttgg aaatggcttt cttcgtaggc
      841 cctgggaaca gattcggaga gccaatcccc atttccaaag cccatgaaca cattttcggg
      901 atggtcctca tgaacgactg gagcgcacga gacatccagc aatgggagta cgtcccactt
      961 gggccattcc tggggaaaag ctttggaacc acaatctccc cgtgggtggt gcctatggat
     1021 gccctcatgc cctttgtggt gccaaaccca aagcaggacc ccaagccctt gccatatctc
     1081 tgccacagcc agccctacac atttgatatc aacctgtctg tctctttgaa aggagaagga
     1141 atgagccagg cggctaccat ctgcaggtct aactttaagc acatgtactg gaccatgctg
     1201 cagcaactca cacaccactc tgttaatgga tgcaacctga gacctgggga cctcttggct
     1261 tctggaacca tcagtggatc agaccctgaa agctttggct ccatgctgga actgtcctgg
     1321 aagggaacaa aggccatcga tgtggagcag gggcagacca ggaccttcct gctggacggc
     1381 gatgaagtca tcataacagg tcactgccag ggggacggct accgtgttgg ctttggccag
     1441 tgtgctggga aagtgctgcc tgccctttca ccagcctgaa gctccggaag tcacaagaca
     1501 cacccttgcc ttatgaggat catgctacca ctgcatcagt caggaatgaa taaagctact
     1561 ttgattgtgg gaaatgccac agaaaaaaaa aaaaaaa
//
