LOCUS       NM_000374               1193 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens uroporphyrinogen decarboxylase (UROD), transcript
            variant 1, mRNA.
ACCESSION   NM_000374
VERSION     NM_000374.5
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 1193)
  AUTHORS   Cunha,L., Kuti,M., Bishop,D.F., Mezei,M., Zeng,L., Zhou,M.M. and
            Desnick,R.J.
  TITLE     Human uroporphyrinogen III synthase: NMR-based mapping of the
            active site
  JOURNAL   Proteins 71 (2), 855-873 (2008)
   PUBMED   18004775
REFERENCE   2  (bases 1 to 1193)
  AUTHORS   Whitby,F.G., Phillips,J.D., Kushner,J.P. and Hill,C.P.
  TITLE     Crystal structure of human uroporphyrinogen decarboxylase
  JOURNAL   EMBO J 17 (9), 2463-2471 (1998)
   PUBMED   9564029
REFERENCE   3  (bases 1 to 1193)
  AUTHORS   Rudnick,S., Phillips,J. and Bonkovsky,H.
  CONSRTM   Porphyrias Consortium of the Rare Diseases Clinical Research
            Network
  TITLE     Hepatoerythropoietic Porphyria
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24175354
REFERENCE   4  (bases 1 to 1193)
  AUTHORS   Rudnick,S., Phillips,J. and Bonkovsky,H.
  CONSRTM   Porphyrias Consortium of the Rare Diseases Clinical Research
            Network
  TITLE     Familial Porphyria Cutanea Tarda
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23741761
REFERENCE   5  (bases 1 to 1193)
  AUTHORS   de Verneuil,H., Bourgeois,F., de Rooij,F., Siersema,P.D.,
            Wilson,J.H., Grandchamp,B. and Nordmann,Y.
  TITLE     Characterization of a new mutation (R292G) and a deletion at the
            human uroporphyrinogen decarboxylase locus in two patients with
            hepatoerythropoietic porphyria
  JOURNAL   Hum Genet 89 (5), 548-552 (1992)
   PUBMED   1634232
REFERENCE   6  (bases 1 to 1193)
  AUTHORS   Garey,J.R., Hansen,J.L., Harrison,L.M., Kennedy,J.B. and
            Kushner,J.P.
  TITLE     A point mutation in the coding region of uroporphyrinogen
            decarboxylase associated with familial porphyria cutanea tarda
  JOURNAL   Blood 73 (4), 892-895 (1989)
   PUBMED   2920211
REFERENCE   7  (bases 1 to 1193)
  AUTHORS   Romana,M., Dubart,A., Beaupain,D., Chabret,C., Goossens,M. and
            Romeo,P.H.
  TITLE     Structure of the gene for human uroporphyrinogen decarboxylase
  JOURNAL   Nucleic Acids Res 15 (18), 7343-7356 (1987)
   PUBMED   3658695
REFERENCE   8  (bases 1 to 1193)
  AUTHORS   Romeo,P.H., Raich,N., Dubart,A., Beaupain,D., Pryor,M., Kushner,J.,
            Cohen-Solal,M. and Goossens,M.
  TITLE     Molecular cloning and nucleotide sequence of a complete human
            uroporphyrinogen decarboxylase cDNA
  JOURNAL   J Biol Chem 261 (21), 9825-9831 (1986)
   PUBMED   3015909
REFERENCE   9  (bases 1 to 1193)
  AUTHORS   Dubart,A., Mattei,M.G., Raich,N., Beaupain,D., Romeo,P.H.,
            Mattei,J.F. and Goossens,M.
  TITLE     Assignment of human uroporphyrinogen decarboxylase (URO-D) to the
            p34 band of chromosome 1
  JOURNAL   Hum Genet 73 (3), 277-279 (1986)
   PUBMED   3460962
REFERENCE   10 (bases 1 to 1193)
  AUTHORS   Elder,G.H., Lee,G.B. and Tovey,J.A.
  TITLE     Decreased activity of hepatic uroporphyrinogen decarboxylase in
            sporadic porphyria cutanea tarda
  JOURNAL   N Engl J Med 299 (6), 274-278 (1978)
   PUBMED   661926
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291877.1 and AL359473.22.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 21, 2018 this sequence version replaced NM_000374.4.
            
            Summary: This gene encodes an enzyme in the heme biosynthetic
            pathway. This enzyme is responsible for catalyzing the conversion
            of uroporphyrinogen to coproporphyrinogen through the removal of
            four carboxymethyl side chains. Mutations and deficiency in this
            enzyme are known to cause familial porphyria cutanea tarda and
            hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the functional protein.
            
            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 :: SRR5189655.6910.1,
                                           SRR5189658.54891.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000246337.9/ ENSP00000246337.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1191              AK291877.1         32-1222
            1192-1193           AL359473.22        21396-21397
FEATURES             Location/Qualifiers
     source          1..1193
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..1193
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /note="uroporphyrinogen decarboxylase"
                     /db_xref="GeneID:7389"
                     /db_xref="HGNC:HGNC:12591"
                     /db_xref="MIM:613521"
     exon            1..32
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /inference="alignment:Splign:2.1.0"
     CDS             13..1116
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /EC_number="4.1.1.37"
                     /note="uroporphyrinogen III decarboxylase"
                     /codon_start=1
                     /product="uroporphyrinogen decarboxylase"
                     /protein_id="NP_000365.3"
                     /db_xref="CCDS:CCDS518.1"
                     /db_xref="GeneID:7389"
                     /db_xref="HGNC:HGNC:12591"
                     /db_xref="MIM:613521"
                     /translation="MEANGLGPQGFPELKNDTFLRAAWGEETDYTPVWCMRQAGRYLP
                     EFRETRAAQDFFSTCRSPEACCELTLQPLRRFPLDAAIIFSDILVVPQALGMEVTMVP
                     GKGPSFPEPLREEQDLERLRDPEVVASELGYVFQAITLTRQRLAGRVPLIGFAGAPWT
                     LMTYMVEGGGSSTMAQAKRWLYQRPQASHQLLRILTDALVPYLVGQVVAGAQALQLFE
                     SHAGHLGPQLFNKFALPYIRDVAKQVKARLREAGLAPVPMIIFAKDGHFALEELAQAG
                     YEVVGLDWTVAPKKARECVGKTVTLQGNLDPCALYASEEEIGQLVKQMLDDFGPHRYI
                     ANLGHGLYPDMDPEHVGAFVDAVHKHSRLLRQN"
     exon            33..145
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /inference="alignment:Splign:2.1.0"
     exon            146..225
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /inference="alignment:Splign:2.1.0"
     exon            226..288
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /inference="alignment:Splign:2.1.0"
     exon            289..486
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /inference="alignment:Splign:2.1.0"
     exon            487..648
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /inference="alignment:Splign:2.1.0"
     exon            649..786
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /inference="alignment:Splign:2.1.0"
     exon            787..887
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /inference="alignment:Splign:2.1.0"
     exon            888..954
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1193
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1173..1178
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /note="hexamer: AATAAA"
     polyA_site      1193
                     /gene="UROD"
                     /gene_synonym="PCT; UPD"
                     /note="major polyA site"
ORIGIN      
        1 agacagctga ccatggaagc gaatgggttg ggacctcagg gttttccgga gctgaagaat
       61 gacacattcc tgcgagcagc ctggggagag gaaacagact acactcccgt ttggtgcatg
      121 cgccaggcag gccgttactt accagagttt agggaaaccc gggctgccca ggactttttc
      181 agcacgtgtc gctctcctga ggcctgctgt gaactgactc tgcagccact gcgtcgcttc
      241 cctctggatg ctgccatcat tttctccgac atccttgttg taccccaggc actgggcatg
      301 gaggtgacca tggtacctgg caaaggaccc agcttcccag agccattaag agaagagcag
      361 gacctagaac gcctacggga tccagaagtg gtagcctctg agctaggcta tgtgttccaa
      421 gccatcaccc ttacccgaca acgactggct ggacgtgtgc cgctgattgg ctttgctggt
      481 gccccatgga ccctgatgac atacatggtt gagggtggtg gctcaagcac catggctcag
      541 gccaagcgct ggctctatca gagacctcag gctagtcacc agctgcttcg catcctcact
      601 gatgctctgg tcccatatct ggtaggacaa gtggtggctg gtgcccaggc attgcagctg
      661 tttgagtccc atgcagggca tcttggccca cagctcttca acaagtttgc actgccttac
      721 atccgtgatg tggccaagca agtgaaggcc aggttgcggg aggcaggcct ggcaccagtg
      781 cccatgatca tctttgctaa ggatgggcat tttgccctgg aggagctggc ccaagctggc
      841 tatgaggtgg ttgggcttga ctggacagtg gccccaaaga aagcccggga gtgtgtgggg
      901 aagacggtga cattgcaggg caacctggac ccctgtgcct tgtatgcatc tgaggaggag
      961 atcgggcagt tggtgaagca gatgctggat gactttggac cacatcgcta cattgccaac
     1021 ctgggccatg ggctttatcc tgacatggac ccagaacatg tgggcgcctt tgtggatgct
     1081 gtgcataaac actcacgtct gcttcgacag aactgagtgt atacctttac cctcaagtac
     1141 cactaacaca gatgattgat cgtttccagg acaataaaag tttcggagtt gaa
//
