LOCUS       NM_013168               1538 bp    mRNA    linear   ROD 03-APR-2024
DEFINITION  Rattus norvegicus hydroxymethylbilane synthase (Hmbs), mRNA.
ACCESSION   NM_013168
VERSION     NM_013168.2
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 1538)
  AUTHORS   Loskove,Y., Yasuda,M., Chen,B., Nazarenko,I., Cody,N. and
            Desnick,R.J.
  TITLE     Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane
            synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen
            oxidase novel mutations
  JOURNAL   Mol Genet Metab 128 (3), 352-357 (2019)
   PUBMED   30385147
REFERENCE   2  (bases 1 to 1538)
  AUTHORS   Yasuda,M., Gan,L., Chen,B., Yu,C., Zhang,J., Gama-Sosa,M.A.,
            Pollak,D.D., Berger,S., Phillips,J.D., Edelmann,W. and Desnick,R.J.
  TITLE     Homozygous hydroxymethylbilane synthase knock-in mice provide
            pathogenic insights into the severe neurological impairments
            present in human homozygous dominant acute intermittent porphyria
  JOURNAL   Hum Mol Genet 28 (11), 1755-1767 (2019)
   PUBMED   30615115
REFERENCE   3  (bases 1 to 1538)
  AUTHORS   Jiang,L., Berraondo,P., Jerico,D., Guey,L.T., Sampedro,A.,
            Frassetto,A., Benenato,K.E., Burke,K., Santamaria,E., Alegre,M.,
            Pejenaute,A., Kalariya,M., Butcher,W., Park,J.S., Zhu,X.,
            Sabnis,S., Kumarasinghe,E.S., Salerno,T., Kenney,M., Lukacs,C.M.,
            Avila,M.A., Martini,P.G.V. and Fontanellas,A.
  TITLE     Systemic messenger RNA as an etiological treatment for acute
            intermittent porphyria
  JOURNAL   Nat Med 24 (12), 1899-1909 (2018)
   PUBMED   30297912
REFERENCE   4  (bases 1 to 1538)
  AUTHORS   Serrano-Mendioroz,I., Sampedro,A., Alegre,M., Enriquez de
            Salamanca,R., Berraondo,P. and Fontanellas,A.
  TITLE     An Inducible Promoter Responsive to Different Porphyrinogenic
            Stimuli Improves Gene Therapy Vectors for Acute Intermittent
            Porphyria
  JOURNAL   Hum Gene Ther 29 (4), 480-491 (2018)
   PUBMED   28990424
REFERENCE   5  (bases 1 to 1538)
  AUTHORS   Barupala,D.P., Dzul,S.P., Riggs-Gelasco,P.J. and Stemmler,T.L.
  TITLE     Synthesis, delivery and regulation of eukaryotic heme and Fe-S
            cluster cofactors
  JOURNAL   Arch Biochem Biophys 592, 60-75 (2016)
   PUBMED   26785297
  REMARK    Review article
REFERENCE   6  (bases 1 to 1538)
  AUTHORS   Van Hillegersberg,R., Van den Berg,J.W., Kort,W.J., Terpstra,O.T.
            and Wilson,J.H.
  TITLE     Selective accumulation of endogenously produced porphyrins in a
            liver metastasis model in rats
  JOURNAL   Gastroenterology 103 (2), 647-651 (1992)
   PUBMED   1386052
REFERENCE   7  (bases 1 to 1538)
  AUTHORS   Piper,W.N. and Van Lier,B.L.
  TITLE     Pteridine regulation of inhibition of hepatic uroporphyrinogen L
            synthetase activity by lead chloride
  JOURNAL   Mol Pharmacol 13 (6), 1126-1135 (1977)
   PUBMED   593266
REFERENCE   8  (bases 1 to 1538)
  AUTHORS   Anderson,K.E., Sassa,S., Peterson,C.M. and Kappas,A.
  TITLE     Increased erythrocyte uroporphyrinogen-l-synthetase,
            delta-aminolevulinic acid dehydratase and protoporphyrin in
            hemolytic anemias
  JOURNAL   Am J Med 63 (3), 359-364 (1977)
   PUBMED   900140
REFERENCE   9  (bases 1 to 1538)
  AUTHORS   Piper,W.N. and Van Lier,R.B.
  TITLE     Isolation of a factor that protects against lead inhibition of
            hepatic and erythrocytic uroporphyrinogen I synthetase activity
  JOURNAL   Life Sci 19 (8), 1225-1234 (1976)
   PUBMED   994723
REFERENCE   10 (bases 1 to 1538)
  AUTHORS   Woods,J.S.
  TITLE     Developmental aspects of hepatic heme biosynthetic capability and
            hematotoxicity
  JOURNAL   Biochem Pharmacol 25 (19), 2147-2152 (1976)
   PUBMED   971328
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC088162.1.
            
            On Oct 28, 2005 this sequence version replaced NM_013168.1.
            
            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 :: BC088162.1, SRR8487226.42182.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMD00132261,
                                           SAMD00132262 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1538              BC088162.1         1-1538
FEATURES             Location/Qualifiers
     source          1..1538
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="8"
                     /map="8q22"
     gene            1..1538
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /note="hydroxymethylbilane synthase"
                     /db_xref="GeneID:25709"
                     /db_xref="RGD:2801"
     exon            1..163
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /inference="alignment:Splign:2.1.0"
     CDS             131..1216
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /EC_number="2.5.1.61"
                     /note="alternative name: porphobilinogen deaminase;
                     pre-uroporphyrinogen synthase; uroporphyrinogen I
                     synthase"
                     /codon_start=1
                     /product="porphobilinogen deaminase"
                     /protein_id="NP_037300.2"
                     /db_xref="GeneID:25709"
                     /db_xref="RGD:2801"
                     /translation="MSGNGGAATTAEENGSMMRVIRVGTRKSQLARIQTDTVVAMLKT
                     LYPGIQFEIIAMSTTGDKILDTALSKIGEKSLFTKELENALEKNEVDLVVHSLKDVPT
                     ILPPGFTIGAICKRENPCDAVVFHPKFIGKTLETLPEKSAVGTSSLRRVAQLQRKFPH
                     LEFKSIRGNLNTRLRKLDELQEFSAIILAVAGLQRMGWQNRVGQILHPEECMYAVGQG
                     ALAVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLEGGCSVPVAVHTVMKDGQL
                     YLTGGVWSLDGSDSMQETMQATIQVPVQQEDGPEDDPQLVGITARNIPRGAQLAAENL
                     GISLASLLLNKGAKNILDVARQLNDVR"
     exon            164..217
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /inference="alignment:Splign:2.1.0"
     exon            218..290
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /inference="alignment:Splign:2.1.0"
     exon            291..340
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /inference="alignment:Splign:2.1.0"
     exon            341..396
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /inference="alignment:Splign:2.1.0"
     exon            397..474
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /inference="alignment:Splign:2.1.0"
     exon            475..552
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /inference="alignment:Splign:2.1.0"
     exon            553..628
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /inference="alignment:Splign:2.1.0"
     exon            629..742
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /inference="alignment:Splign:2.1.0"
     exon            743..781
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /inference="alignment:Splign:2.1.0"
     exon            782..901
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /inference="alignment:Splign:2.1.0"
     exon            902..955
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1042
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /inference="alignment:Splign:2.1.0"
     exon            1043..1538
                     /gene="Hmbs"
                     /gene_synonym="hemC; PBG-D; PBGD; URO-S"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gtcctgcagc cggagtgaag tgcgggctcc ggccccatgt gccttcagtc acgacccgcc
       61 caggtcgccg gcttctgcag actccagggg accgcagcgg cagtgccgcg cttgcgccct
      121 gagcggagcc atgtccggta acggcggcgc ggccacaacc gcggaagaaa acggctcaat
      181 gatgagggtg attcgagtgg gcacccggaa gagtcagctg gctcgcatac agaccgacac
      241 tgtggtagcg atgctgaaaa ccttgtaccc tggcatacag tttgaaatca ttgctatgtc
      301 caccacaggg gacaagattc ttgatactgc actctctaag attggagaga agagcctgtt
      361 taccaaggag ctagaaaacg ccctggaaaa aaatgaagtg gacctggttg ttcactccct
      421 gaaggatgtg cctaccatac tacctcctgg ctttaccatt ggagccatct gcaaacggga
      481 aaacccttgt gatgctgttg tttttcaccc aaagtttatt ggaaagaccc tggaaacctt
      541 gccagagaaa agtgccgtgg ggaccagctc cctgaggaga gtggcgcagc tacagagaaa
      601 gttccctcac ctggaattca agagtattcg gggaaacctc aacacccgcc tacggaagct
      661 ggatgagctg caggagttca gtgccattat cctggctgtg gctggcctac agcgcatggg
      721 ctggcagaac cgggtgggcc agatcttgca cccagaggaa tgcatgtatg ctgtgggtca
      781 gggagccctg gcggtggagg tccgagccaa ggaccaggat atcttggacc tagtgggtgt
      841 gttgcatgat cctgaaactc tgcttcgctg cattgctgaa agggcttttc tgaggcacct
      901 ggaaggaggc tgtagcgtgc cagtagcagt gcatacagtg atgaaggatg ggcaactgta
      961 cctgactggt ggagtctgga gtctagatgg ctcagatagc atgcaagaga ccatgcaggc
     1021 caccatccag gtccctgttc agcaagaaga tggtccagag gatgacccac agttggttgg
     1081 aatcactgcc cggaacattc caagaggagc ccagctagct gctgagaacc tgggcatcag
     1141 cctggcaagc ttgttgctca acaaaggagc taagaacatc ctagatgttg cacggcagct
     1201 taatgatgtg cgctaactgg cctgcagggc acaggaaccg aaccccagct gtcactccag
     1261 tgcctatgtc tggctgtcaa gtgccctgtg ctccttaaca aggggaatga ttatcccagg
     1321 agattgaacc agagttgttg agacttcggc cttggaagat atgcctcaac ttggggcctc
     1381 catgactgcc tttccctcag tagtttgtgg gcttcatctc tttagagaaa gtccatgcca
     1441 atcttttaat gtaaccaatg ccactaatca gttcagaatg tggttctcct ggagttgggg
     1501 gaagatatga ataaacccaa agccctttta aacctgaa
//
