LOCUS       NM_000137               1456 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens fumarylacetoacetate hydrolase (FAH), transcript
            variant 2, mRNA.
ACCESSION   NM_000137
VERSION     NM_000137.4
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 1456)
  AUTHORS   Chi,H., Gan,C., Jiang,Y., Chen,D., Qiu,J., Yang,Q., Chen,Y.,
            Wang,M., Yang,H., Jiang,W. and Li,Q.
  TITLE     The compound heterozygous mutations of c.607G>a and c.657delC in
            the FAH gene are associated with renal damage with hereditary
            tyrosinemia type 1 (HT1)
  JOURNAL   Mol Genet Genomic Med 11 (1), e2090 (2023)
   PUBMED   36369907
  REMARK    GeneRIF: The compound heterozygous mutations of c.607G>a and
            c.657delC in the FAH gene are associated with renal damage with
            hereditary tyrosinemia type 1 (HT1).
REFERENCE   2  (bases 1 to 1456)
  AUTHORS   Larson,E.L., Joo,D.J., Nelson,E.D., Amiot,B.P., Aravalli,R.N. and
            Nyberg,S.L.
  TITLE     Fumarylacetoacetate hydrolase gene as a knockout target for hepatic
            chimerism and donor liver production
  JOURNAL   Stem Cell Reports 16 (11), 2577-2588 (2021)
   PUBMED   34678209
  REMARK    GeneRIF: Fumarylacetoacetate hydrolase gene as a knockout target
            for hepatic chimerism and donor liver production.
            Review article
REFERENCE   3  (bases 1 to 1456)
  AUTHORS   Zhang,L., Ge,J.Y., Zheng,Y.W., Sun,Z., Wang,C., Peng,Z., Wu,B.,
            Fang,M., Furuya,K., Ma,X., Shao,Y., Ohkohchi,N., Oda,T., Fan,J.,
            Pan,G., Li,D. and Hui,L.
  TITLE     Survival-Assured Liver Injury Preconditioning (SALIC) Enables
            Robust Expansion of Human Hepatocytes in Fah-/- Rag2-/- IL2rg-/-
            Rats
  JOURNAL   Adv Sci (Weinh) 8 (19), e2101188 (2021)
   PUBMED   34382351
  REMARK    GeneRIF: Survival-Assured Liver Injury Preconditioning (SALIC)
            Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-)
            IL2rg(-/-) Rats.
REFERENCE   4  (bases 1 to 1456)
  AUTHORS   Gil-Martinez,J., Macias,I., Unione,L., Bernardo-Seisdedos,G.,
            Lopitz-Otsoa,F., Fernandez-Ramos,D., Lain,A., Sanz-Parra,A.,
            Mato,J.M. and Millet,O.
  TITLE     Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in
            Hereditary Tyrosinemia Type I
  JOURNAL   Int J Mol Sci 22 (4), 1789 (2021)
   PUBMED   33670179
  REMARK    GeneRIF: Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in
            Hereditary Tyrosinemia Type I.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1456)
  AUTHORS   Kaushal,K., Woo,S.H., Tyagi,A., Kim,D.H., Suresh,B., Kim,K.S. and
            Ramakrishna,S.
  TITLE     E3 Ubiquitin Ligase APC/CCdh1 Negatively Regulates FAH Protein
            Stability by Promoting Its Polyubiquitination
  JOURNAL   Int J Mol Sci 21 (22), 8719 (2020)
   PUBMED   33218190
  REMARK    GeneRIF: E3 Ubiquitin Ligase APC/C(Cdh1) Negatively Regulates FAH
            Protein Stability by Promoting Its Polyubiquitination.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1456)
  AUTHORS   Sniderman King,L., Trahms,C. and Scott,C.R.
  TITLE     Tyrosinemia Type I
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301688
REFERENCE   7  (bases 1 to 1456)
  AUTHORS   Phaneuf,D., Lambert,M., Laframboise,R., Mitchell,G., Lettre,F. and
            Tanguay,R.M.
  TITLE     Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity
            and identification of a causal mutation in a French Canadian
            patient
  JOURNAL   J Clin Invest 90 (4), 1185-1192 (1992)
   PUBMED   1401056
REFERENCE   8  (bases 1 to 1456)
  AUTHORS   Phaneuf,D., Labelle,Y., Berube,D., Arden,K., Cavenee,W., Gagne,R.
            and Tanguay,R.M.
  TITLE     Cloning and expression of the cDNA encoding human
            fumarylacetoacetate hydrolase, the enzyme deficient in hereditary
            tyrosinemia: assignment of the gene to chromosome 15
  JOURNAL   Am J Hum Genet 48 (3), 525-535 (1991)
   PUBMED   1998338
REFERENCE   9  (bases 1 to 1456)
  AUTHORS   Tanguay,R.M., Valet,J.P., Lescault,A., Duband,J.L., Laberge,C.,
            Lettre,F. and Plante,M.
  TITLE     Different molecular basis for fumarylacetoacetate hydrolase
            deficiency in the two clinical forms of hereditary tyrosinemia
            (type I)
  JOURNAL   Am J Hum Genet 47 (2), 308-316 (1990)
   PUBMED   2378356
REFERENCE   10 (bases 1 to 1456)
  AUTHORS   Agsteribbe,E., van Faassen,H., Hartog,M.V., Reversma,T.,
            Taanman,J.W., Pannekoek,H., Evers,R.F., Welling,G.M. and Berger,R.
  TITLE     Nucleotide sequence of cDNA encoding human fumarylacetoacetase
  JOURNAL   Nucleic Acids Res 18 (7), 1887 (1990)
   PUBMED   2336361
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313951.1 and BU679766.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 26, 2019 this sequence version replaced NM_000137.3.
            
            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 :: M55150.1, GQ891433.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000561421.6/ ENSP00000453347.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1316              AK313951.1         104-1419
            1317-1456           BU679766.1         247-386             c
FEATURES             Location/Qualifiers
     source          1..1456
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.1"
     gene            1..1456
                     /gene="FAH"
                     /note="fumarylacetoacetate hydrolase"
                     /db_xref="GeneID:2184"
                     /db_xref="HGNC:HGNC:3579"
                     /db_xref="MIM:613871"
     exon            1..137
                     /gene="FAH"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..1316
                     /gene="FAH"
                     /EC_number="3.7.1.2"
                     /note="FAA; beta-diketonase; fumarylacetoacetate hydrolase
                     (fumarylacetoacetase); epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="fumarylacetoacetase"
                     /protein_id="NP_000128.1"
                     /db_xref="CCDS:CCDS10314.1"
                     /db_xref="GeneID:2184"
                     /db_xref="HGNC:HGNC:3579"
                     /db_xref="MIM:613871"
                     /translation="MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLS
                     IIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTEL
                     RKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYH
                     GRASSVVVSGTPIRRPMGQMKPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPI
                     SKAHEHIFGMVLMNDWSARDIQKWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPN
                     PKQDPRPLPYLCHDEPYTFDINLSVNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHS
                     VNGCNLRPGDLLASGTISGPEPENFGSMLELSWKGTKPIDLGNGQTRKFLLDGDEVII
                     TGYCQGDGYRIGFGQCAGKVLPALLPS"
     exon            138..248
                     /gene="FAH"
                     /inference="alignment:Splign:2.1.0"
     exon            249..370
                     /gene="FAH"
                     /inference="alignment:Splign:2.1.0"
     exon            371..420
                     /gene="FAH"
                     /inference="alignment:Splign:2.1.0"
     exon            421..511
                     /gene="FAH"
                     /inference="alignment:Splign:2.1.0"
     exon            512..609
                     /gene="FAH"
                     /inference="alignment:Splign:2.1.0"
     exon            610..662
                     /gene="FAH"
                     /inference="alignment:Splign:2.1.0"
     exon            663..762
                     /gene="FAH"
                     /inference="alignment:Splign:2.1.0"
     exon            763..893
                     /gene="FAH"
                     /inference="alignment:Splign:2.1.0"
     exon            894..969
                     /gene="FAH"
                     /inference="alignment:Splign:2.1.0"
     exon            970..1016
                     /gene="FAH"
                     /inference="alignment:Splign:2.1.0"
     exon            1017..1118
                     /gene="FAH"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..1236
                     /gene="FAH"
                     /inference="alignment:Splign:2.1.0"
     exon            1237..1456
                     /gene="FAH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1420..1425
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAH"
                     /note="hexamer: AATAAA"
     polyA_site      1456
                     /gene="FAH"
                     /note="major polyA site"
ORIGIN      
        1 agtcctgctc tccgcacgcc accttaggcc cgcagccgtg ccgggtgctc ttcagcatgt
       61 ccttcatccc ggtggccgag gattccgact tccccatcca caacctgccc tacggcgtct
      121 tctcgaccag aggcgaccca agaccgagga taggtgtggc cattggcgac cagatcctgg
      181 acctcagcat catcaagcac ctctttactg gtcctgtcct ctccaaacac caggatgtct
      241 tcaatcagcc tacactcaac agcttcatgg gcctgggtca ggctgcctgg aaggaggcga
      301 gagtgttctt gcagaacttg ctgtctgtga gccaagccag gctcagagat gacaccgaac
      361 ttcggaagtg tgcattcatc tcccaggctt ctgccacgat gcaccttcca gccaccatag
      421 gagactacac agacttctat tcctctcggc agcatgctac caacgtcgga atcatgttca
      481 gggacaagga gaatgcgttg atgccaaatt ggctgcactt accagtgggc taccatggcc
      541 gtgcctcctc tgtcgtggtg tctggcaccc caatccgaag gcccatggga cagatgaaac
      601 ctgatgactc taagcctccc gtatatggtg cctgcaagct cttggacatg gagctggaaa
      661 tggctttttt tgtaggccct ggaaacagat tgggagagcc gatccccatt tccaaggccc
      721 atgagcacat ttttggaatg gtccttatga acgactggag tgcacgagac attcagaagt
      781 gggagtatgt ccctctcggg ccattccttg ggaagagttt tgggaccact gtctctccgt
      841 gggtggtgcc catggatgct ctcatgccct ttgctgtgcc caacccgaag caggacccca
      901 ggcccctgcc gtatctgtgc catgacgagc cctacacatt tgacatcaac ctctctgtta
      961 acctgaaagg agaaggaatg agccaggcgg ctaccatatg caagtccaat tttaagtaca
     1021 tgtactggac gatgctgcag cagctcactc accactctgt caacggctgc aacctgcggc
     1081 cgggggacct cctggcttct gggaccatca gcgggccgga gccagaaaac ttcggctcca
     1141 tgttggaact gtcgtggaag ggaacgaagc ccatagacct ggggaatggt cagaccagga
     1201 agtttctgct ggacggggat gaagtcatca taacagggta ctgccagggg gatggttacc
     1261 gcatcggctt tggccagtgt gctggaaaag tgctgcctgc tctcctgcca tcatgagatt
     1321 ttctctgctc ttctggaaac aaagggctca agcacccctt tcaaccctgt gactggggtc
     1381 ctccctcggg ctgtaggcct ggtccgccat tcagtgacaa ataaagccat tgtgctctga
     1441 ggcctgcact gccgca
//
