LOCUS       NM_144639               3264 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens urocanate hydratase 1 (UROC1), transcript variant 1,
            mRNA.
ACCESSION   NM_144639
VERSION     NM_144639.3
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 3264)
  AUTHORS   Wang,Q.Y., Liu,Y.J., Hu,Y., Xiao,H., Xia,L.L. and Wu,Y.G.
  TITLE     Prognostic and immune roles of UROC1 in human cancers: from
            mechanism exploration of NAFLD and HCC to pan-cancer analysis
  JOURNAL   Eur Rev Med Pharmacol Sci 28 (2), 622-644 (2024)
   PUBMED   38305606
  REMARK    GeneRIF: Prognostic and immune roles of UROC1 in human cancers:
            from mechanism exploration of NAFLD and HCC to pan-cancer analysis.
REFERENCE   2  (bases 1 to 3264)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3264)
  AUTHORS   Espinos,C., Pineda,M., Martinez-Rubio,D., Lupo,V., Ormazabal,A.,
            Vilaseca,M.A., Spaapen,L.J., Palau,F. and Artuch,R.
  TITLE     Mutations in the urocanase gene UROC1 are associated with urocanic
            aciduria
  JOURNAL   J Med Genet 46 (6), 407-411 (2009)
   PUBMED   19304569
REFERENCE   4  (bases 1 to 3264)
  AUTHORS   Yamada,S., Ohira,M., Horie,H., Ando,K., Takayasu,H., Suzuki,Y.,
            Sugano,S., Hirata,T., Goto,T., Matsunaga,T., Hiyama,E., Hayashi,Y.,
            Ando,H., Suita,S., Kaneko,M., Sasaki,F., Hashizume,K., Ohnuma,N.
            and Nakagawara,A.
  TITLE     Expression profiling and differential screening between
            hepatoblastomas and the corresponding normal livers: identification
            of high expression of the PLK1 oncogene as a poor-prognostic
            indicator of hepatoblastomas
  JOURNAL   Oncogene 23 (35), 5901-5911 (2004)
   PUBMED   15221005
REFERENCE   5  (bases 1 to 3264)
  AUTHORS   Retey,J.
  TITLE     The urocanase story: a novel role of NAD+ as electrophile
  JOURNAL   Arch Biochem Biophys 314 (1), 1-16 (1994)
   PUBMED   7944380
  REMARK    Review article
REFERENCE   6  (bases 1 to 3264)
  AUTHORS   Kalafatic,Z., Lipovac,K., Jezerinac,Z., Juretic,D., Dumic,M.,
            Zurga,B. and Res,L.
  TITLE     A liver urocanase deficiency
  JOURNAL   Metabolism 29 (11), 1013-1019 (1980)
   PUBMED   6107814
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA638082.1, BC115405.1,
            AK055862.1, AC024558.21 and BX108463.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_144639.2.
            
            Summary: This gene encodes an enzyme involved in the second step of
            histidine catabolism, metabolizing urocanic acid to
            formiminoglutamic acid. Deficiency of this enzyme results in
            urocanic aciduria, and is an apparent cause of mental retardation.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Apr 2021].
            
            Transcript Variant: This variant (1) encodes the predominant
            isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK055862.1, BC115405.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000290868.7/ ENSP00000290868.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                DA638082.1         1-22
            23-1898             BC115405.1         1-1876
            1899-2968           AK055862.1         1877-2946
            2969-2969           AC024558.21        42090-42090         c
            2970-3264           BX108463.1         124-418
FEATURES             Location/Qualifiers
     source          1..3264
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.3"
     gene            1..3264
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /note="urocanate hydratase 1"
                     /db_xref="GeneID:131669"
                     /db_xref="HGNC:HGNC:26444"
                     /db_xref="MIM:613012"
     exon            1..180
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..2085
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /EC_number="4.2.1.49"
                     /note="isoform 1 is encoded by transcript variant 1;
                     imidazolonepropionate hydrolase; urocanase domain
                     containing 1; urocanase 1"
                     /codon_start=1
                     /product="urocanate hydratase isoform 1"
                     /protein_id="NP_653240.1"
                     /db_xref="CCDS:CCDS3038.1"
                     /db_xref="GeneID:131669"
                     /db_xref="HGNC:HGNC:26444"
                     /db_xref="MIM:613012"
                     /translation="MSSLQALCSGLPLRPLPENRGRQAGVPHAPVRTPSLSPVEKQLA
                     LRNALRYFPPDVQELLAPEFAQELQLYGHIYMYRFCPDIEMRAYPIEQYPCQTKVAAA
                     IMHMIMNNLDPAVAQFPQELVTYGGNGQVFSNWAQFWLTMFYLSKMTEEQTLVMYSGH
                     PLGLFPSSRSAPRLVITNGMVIPNYSSRTEYEKLFALGVTMYGQMTAGSYCYIGPQGI
                     VHGTVLTVLNAARRYLGIEDLAGKVFVTSGLGGMSGAQAKAAVIVGCIGVIAEVDKAA
                     LEKRHRQGWLMEVTDSLDRCIQRLREARKKKEVLSLGYHGNVVALWERLVHELDTTGE
                     CLVDLGSDQTSCHNPFNGGYYPVQLSFTEAQSLMASNPAVFKDLVQESLRRQVSAINR
                     LAEEKFFFWDYGNAFLLEAQRAGADVEKKGAGRTEFRYPSYVQHIMGDIFSQGFGPFR
                     WVCTSGDPQDLAVTDELATSVLEEAIADGVKVSVKLQYMDNIRWIREAARHRLVVGSQ
                     ARILYSDQKGRVAIAVAINQAIACRRIKAPVVLSRDHHDVSGTDSPFRETSNIYDGSA
                     FCADMAVQNFVGDACRGATWVALHNGGGVGWGEVINGGFGLVLDGTPEAEGRARLMLS
                     WDVSNGVARRCWSGNQKAYEIICQTMQENSTLVVTLPHKVEDERVLQQALQL"
     exon            181..311
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            312..405
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            406..465
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            466..594
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            595..656
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            657..723
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            724..867
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            868..956
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1019
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1199
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1200..1297
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..1370
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1371..1492
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1493..1563
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1564..1662
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1663..1762
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1763..1844
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1845..1944
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1945..3264
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3125..3130
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /note="hexamer: AATAAA"
     polyA_site      3146
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /note="major polyA site"
     regulatory      3246..3251
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /note="hexamer: AATAAA"
     polyA_site      3264
                     /gene="UROC1"
                     /gene_synonym="HMFN0320; UROCD"
                     /note="major polyA site"
ORIGIN      
        1 agtctcttcc tggcctcccc acagtgctgg cctctgcctc catctcagtc acacatgtct
       61 agcctccagg cgctgtgctc tggcctgccc ctgcggcccc tcccagagaa ccggggacgc
      121 caggctgggg tgccccatgc ccctgtcagg acccccagcc tcagccctgt ggagaaacag
      181 ctggcgctga ggaacgccct gcgctacttc cccccggatg tccaggagct gctggcccca
      241 gagtttgccc aggagctgca actgtacgga cacatctaca tgtaccggtt ttgccccgac
      301 attgaaatga gggcctaccc gattgagcag tacccctgcc agacgaaagt ggctgccgcc
      361 atcatgcaca tgattatgaa caacctggat cctgccgtgg cccagtttcc ccaggagctg
      421 gtgacctatg gaggaaatgg gcaggtgttc agcaactggg ctcagttctg gctgaccatg
      481 ttctacttgt cgaagatgac agaggagcag actttggtca tgtacagtgg gcacccactt
      541 ggcctctttc ccagcagccg cagtgcccca cggctcgtca tcaccaatgg gatggtcatt
      601 cccaactact cctcccggac ggagtatgag aagctctttg ccttgggggt tacaatgtac
      661 ggccagatga cagcaggtag ctactgctac atcggtcccc agggaatcgt tcatggcact
      721 gtgctcaccg tgttgaatgc tgcacgtcgg tacctgggca tcgaggactt ggctgggaag
      781 gtctttgtca cctctgggct cggcggaatg agtggggctc aggccaaggc cgcagtcatc
      841 gtggggtgca tcggtgtgat agcagaggtg gataaagcag cccttgagaa acgccacagg
      901 cagggctggc tgatggaagt gactgacagc ttggaccgct gcatccagag gctcagggaa
      961 gcaaggaaaa aaaaggaggt gctcagcctt ggttaccatg gcaacgtggt ggctctttgg
     1021 gagcgcctgg tccacgaatt ggacacgacg ggggagtgct tggtggacct ggggtcagat
     1081 cagacatcct gccacaaccc gttcaatggc ggctactacc ctgtgcagct cagcttcacg
     1141 gaggcccaga gcctcatggc ctccaaccct gctgtgttca aggacctggt ccaggaaagc
     1201 ctgaggaggc aagtctcagc catcaacagg ttggccgagg agaagttctt cttctgggac
     1261 tacggcaatg ccttcctctt ggaggcccag agagcaggag cggatgtgga gaagaaaggt
     1321 gctggcagga cagagttccg ctacccttcc tatgtgcagc acatcatggg ggacatattc
     1381 tcccagggat ttgggccttt ccgctgggtg tgcacatcgg gggaccccca ggacctggcg
     1441 gtcacagacg aactggccac atctgtgctg gaggaagcca ttgctgatgg agtgaaggtg
     1501 tctgtgaagc tgcagtacat ggacaacatc cgctggatcc gggaggccgc caggcaccgg
     1561 ctggtggtgg gctcccaggc aaggatcctg tactcagacc agaagggccg cgtggccatc
     1621 gctgtggcca ttaaccaggc catcgcctgc aggaggatca aggcgccggt ggtcctgagc
     1681 cgagatcacc atgacgtgag cggcaccgac agccccttta gggagacctc caacatttac
     1741 gacggctctg ccttctgtgc agacatggct gtgcagaact tcgtgggaga tgcctgtcgc
     1801 ggagccacct gggtcgccct tcacaacgga gggggcgtgg gctggggtga ggtgatcaac
     1861 gggggattcg gcctcgtgct ggacggtacc ccggaggccg aggggagagc caggctgatg
     1921 ctcagctggg atgtctccaa tggtgtggcc cggcgctgct ggtcagggaa ccagaaggcc
     1981 tatgagatca tctgccagac catgcaggag aacagcacct tggtggtgac actgcctcac
     2041 aaggtggagg acgagcgggt gctccagcag gccctgcagc tctgagggag ccaggagtcg
     2101 cggcccctgc ctcccttcct ccctggcgat cctcacctgc ccagccatgg cacacaccct
     2161 tcctgcacac ccgcactacc tgcacttctc gcacatcctc acgtggccct tatggtgccc
     2221 tgtgcagggt gccaccacag cctcatttta cagacagccc cctgaggccc agagacatgc
     2281 agctctctgt ccacaaccat gccacttgca tgggagccct gaaggctgtc aaagtccatt
     2341 tagggccaag tcccaagcct gcccgggggc cctgcggtga acactggtca agctctctcc
     2401 ggctgggatg atcacaccct ctgcttcctg gccacctgcc agcctccatg caactctgtc
     2461 tgtctgctgc ccatctgctg tctgtgcaag caacttctgg accctggcac cctgggctgc
     2521 tggcctggag gagttcggga aggaggatag accaggaaat aaagggtcaa cagagctgtg
     2581 tgctgcactg tgggctggtg ggacgggcag gccgggtctg ccctaaggat aaatgatcac
     2641 ttactgggga agaaatgaga gagcaggggc acccccctag gccagcacag cctgaggggt
     2701 acagcaaagg ggaccctttg ctggcccctg aggctggagt ctggcacccc ttccccaatc
     2761 ccatagcccg gtaatgactg ggtccagagc ctcgtgagag gtcaccggga tgggggaagt
     2821 ggcctctgtc agggccaggg ctcatgaatc tcattctctt agctgggcgt gcaacagacc
     2881 aacagataac tcatcctaaa cagagaaatg agaaagagtc tgtgggtggg cctctgaggg
     2941 ccacagaaaa ccagacaccc cacatgtcgg tggattggag aggggcaggc cactgccctc
     3001 tccaggacca agccgggttc ttggtcccca ccctccctgc actccgcatc tcctccccag
     3061 cagccattct cccctttccc ttgtgaacaa aagcctagtt ttgtgtgggc agcaatatag
     3121 ggtaaataaa accacctgat tctccagcct tccttgctgt taggagggac tgttggccta
     3181 gtcctggccc acgagatgag ggtggggtct gtggggcagg gcttcttgag agccgtcgtt
     3241 tttctaataa aatggacaga tcca
//
