LOCUS       NM_001110251            1553 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus hydroxymethylbilane synthase (Hmbs), transcript
            variant 2, mRNA.
ACCESSION   NM_001110251
VERSION     NM_001110251.1
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 1553)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1553)
  AUTHORS   Longo,M., Jerico,D., Cordoba,K.M., Riezu-Boj,J.I., Urtasun,R.,
            Solares,I., Sampedro,A., Collantes,M., Penuelas,I.,
            Moreno-Aliaga,M.J., Avila,M.A., Di Pierro,E., Barajas,M.,
            Milagro,F.I., Dongiovanni,P. and Fontanellas,A.
  TITLE     Nutritional Interventions with Bacillus coagulans Improved Glucose
            Metabolism and Hyperinsulinemia in Mice with Acute Intermittent
            Porphyria
  JOURNAL   Int J Mol Sci 24 (15), 11938 (2023)
   PUBMED   37569315
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1553)
  AUTHORS   Jerico,D., Luis,E.O., Cusso,L., Fernandez-Seara,M.A., Morales,X.,
            Cordoba,K.M., Benito,M., Sampedro,A., Larriva,M., Ramirez,M.J., de
            Salamanca,R.E., Ortiz-de-Solorzano,C., Alegre,M., Prieto,J.,
            Lanciego,J.L., D'Avola,D., Gonzalez-Aseguinolaza,G., Pastor,M.A.,
            Desco,M. and Fontanellas,A.
  TITLE     Brain ventricular enlargement in human and murine acute
            intermittent porphyria
  JOURNAL   Hum Mol Genet 29 (19), 3211-3223 (2020)
   PUBMED   32916704
  REMARK    GeneRIF: Brain ventricular enlargement in human and murine acute
            intermittent porphyria.
REFERENCE   4  (bases 1 to 1553)
  AUTHORS   Berger,S., Stattmann,M., Cicvaric,A., Monje,F.J., Coiro,P.,
            Hotka,M., Ricken,G., Hainfellner,J., Greber-Platzer,S., Yasuda,M.,
            Desnick,R.J. and Pollak,D.D.
  TITLE     Severe hydroxymethylbilane synthase deficiency causes
            depression-like behavior and mitochondrial dysfunction in a mouse
            model of homozygous dominant acute intermittent porphyria
  JOURNAL   Acta Neuropathol Commun 8 (1), 38 (2020)
   PUBMED   32197664
  REMARK    GeneRIF: Severe hydroxymethylbilane synthase deficiency causes
            depression-like behavior and mitochondrial dysfunction in a mouse
            model of homozygous dominant acute intermittent porphyria.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1553)
  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
  REMARK    GeneRIF: To investigate the dramatically different manifestations,
            knock-in mice with human homozygous dominant-Acute intermittent
            porphyria (HD-AIP) missense mutations c.500G>A (p.Arg167Glu) or
            c.518_519GC>AG (p.Arg173Glu), designated R167Q or R173Q mice,
            respectively, were generated and compared with the previously
            established T1/T2 mice with ~30% residual HMBS activity and the
            heterozygous AIP phenotype
REFERENCE   6  (bases 1 to 1553)
  AUTHORS   Charmley,P., Nguyen,J., Wei,S. and Gatti,R.A.
  TITLE     Genetic linkage analysis and homology relationships of genes
            located on human chromosome 11q
  JOURNAL   Genomics 10 (3), 608-617 (1991)
   PUBMED   1679745
REFERENCE   7  (bases 1 to 1553)
  AUTHORS   Porcher,C., Pitiot,G., Plumb,M., Lowe,S., de Verneuil,H. and
            Grandchamp,B.
  TITLE     Characterization of hypersensitive sites, protein-binding motifs,
            and regulatory elements in both promoters of the mouse
            porphobilinogen deaminase gene
  JOURNAL   J Biol Chem 266 (16), 10562-10569 (1991)
   PUBMED   2037597
REFERENCE   8  (bases 1 to 1553)
  AUTHORS   Ko,M.S.
  TITLE     An 'equalized cDNA library' by the reassociation of short
            double-stranded cDNAs
  JOURNAL   Nucleic Acids Res 18 (19), 5705-5711 (1990)
   PUBMED   2216762
REFERENCE   9  (bases 1 to 1553)
  AUTHORS   Beaumont,C., Porcher,C., Picat,C., Nordmann,Y. and Grandchamp,B.
  TITLE     The mouse porphobilinogen deaminase gene. Structural organization,
            sequence, and transcriptional analysis
  JOURNAL   J Biol Chem 264 (25), 14829-14834 (1989)
   PUBMED   2768242
REFERENCE   10 (bases 1 to 1553)
  AUTHORS   Antonucci,T.K., Von Deimling,O.H., Rosenblum,B.B., Skow,L.C. and
            Meisler,M.H.
  TITLE     Conserved linkage within a 4-cM region of mouse chromosome 9 and
            human chromosome 11
  JOURNAL   Genetics 107 (3), 463-475 (1984)
   PUBMED   6735174
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BB844509.1, AK143558.1 and AI853649.1.
            
            Transcript Variant: This variant (2) contains an alternate exon in
            the 5' UTR, lacks a portion of the 5' coding region, and initiates
            translation at an alternate start codon, compared to variant 1. The
            encoded protein (isoform 2) has a distinct N-terminus and is
            shorter than isoform 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 :: AK143558.1, AK028234.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-76                BB844509.1         2-77
            77-1534             AK143558.1         2-1459
            1535-1553           AI853649.1         1-19                c
FEATURES             Location/Qualifiers
     source          1..1553
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 24.84 cM"
     gene            1..1553
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /note="hydroxymethylbilane synthase"
                     /db_xref="GeneID:15288"
                     /db_xref="MGI:MGI:96112"
     exon            1..161
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /inference="alignment:Splign:2.1.0"
     exon            162..215
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /inference="alignment:Splign:2.1.0"
     CDS             180..1214
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /EC_number="2.5.1.61"
                     /note="isoform 2 is encoded by transcript variant 2;
                     PBG-D; pre-uroporphyrinogen synthase; porphobilinogen
                     deaminase"
                     /codon_start=1
                     /product="porphobilinogen deaminase isoform 2"
                     /protein_id="NP_001103721.1"
                     /db_xref="CCDS:CCDS52779.1"
                     /db_xref="GeneID:15288"
                     /db_xref="MGI:MGI:96112"
                     /translation="MRVIRVGTRKSQLARIQTDTVVAMLKALYPGIQFEIIAMSTTGD
                     KILDTALSKIGEKSLFTKELENALEKNEVDLVVHSLKDVPTILPPGFTIGAICKRENP
                     CDAVVFHPKFIGKTLETLPEKSAVGTSSLRRVAQLQRKFPHLEFKSIRGNLNTRLRKL
                     DELQEFSAIVLAVAGLQRMGWQNRVGQILHPEECMYAVGQGALAVEVRAKDQDILDLV
                     SVLHDPETLLRCIAERAFLRHLEGGCSVPVAVHTVMKDGQLYLTGGVWSLDGSDSMQE
                     TMQATIQVPVQQEDGPEDDPQLVGITARNIPRGAQLAAENLGISLASLLLNKGAKNIL
                     DVARQLNDVR"
     exon            216..288
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /inference="alignment:Splign:2.1.0"
     exon            289..338
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /inference="alignment:Splign:2.1.0"
     exon            339..394
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /inference="alignment:Splign:2.1.0"
     exon            395..472
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /inference="alignment:Splign:2.1.0"
     exon            473..550
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /inference="alignment:Splign:2.1.0"
     exon            551..626
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /inference="alignment:Splign:2.1.0"
     exon            627..740
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /inference="alignment:Splign:2.1.0"
     exon            741..779
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /inference="alignment:Splign:2.1.0"
     exon            780..899
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /inference="alignment:Splign:2.1.0"
     exon            900..953
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1040
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /inference="alignment:Splign:2.1.0"
     exon            1041..1538
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1510..1515
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /note="hexamer: AATAAA"
     polyA_site      1538
                     /gene="Hmbs"
                     /gene_synonym="PBGD; Ups; Uros1"
                     /note="major polyA site"
ORIGIN      
        1 cttatcattt tgcccacctg gctgtgtgca gccctcccac tcagaacctc cttggccagg
       61 ctgggctttg gggctcagtg tcctgttgct gctgccacaa cagatcctat tacagctttt
      121 cctctggtct tgcttctctg gatcccgtag gagggcagaa ggaagaaaac ggctcaaaga
      181 tgagggtgat tcgagtgggc acccgtaaga gccagctggc tcgcatacag accgacactg
      241 tggtggcgat gctgaaagcc ttgtaccctg gcatacagtt tgaaatcatt gctatgtcca
      301 ccacgggaga caagattctt gatactgcac tctctaagat tggagagaag agcctgttta
      361 ccaaggagct agaaaacgcc ctggaaaaaa acgaagtgga cctggtcgtt cactccctga
      421 aggatgtgcc taccatacta cctcctggct ttactattgg agccatctgc aaacgggaaa
      481 acccttgtga tgctgttgtc tttcacccaa agtttattgg aaagaccctg gaaaccttgc
      541 cagagaaaag tgccgtggga accagctctc tgaggagagt ggctcagcta cagagaaagt
      601 tcccccacct ggaattcaag agtattcggg gaaacctcaa cacccgcctc cggaagctgg
      661 atgagctgca ggaattcagt gccatcgtcc tggctgtggc tggcctacag cgcatgggct
      721 ggcagaaccg ggtgggccag attttgcacc cagaagaatg catgtatgct gtgggtcagg
      781 gagccctagc cgtggaagtc cgagccaagg accaggatat cttggaccta gtgagtgtgt
      841 tgcacgatcc tgaaactctg cttcgctgca ttgctgaaag ggcttttctg aggcacctgg
      901 aaggaggctg cagcgtgccc gtagcagtgc atacagtgat gaaagatggg caactgtacc
      961 tgactggtgg agtctggagt ctagatggct cagatagcat gcaagagact atgcaggcca
     1021 ccatccaggt ccctgttcag caagaagatg gtccagaaga tgacccacaa ctggttggaa
     1081 tcactgcccg taacattcca agaggagccc agctagctgc tgagaacctg ggcatcagcc
     1141 tggccagctt gctgctcaac aaaggagcca agaacatcct ggatgttgca cggcagctta
     1201 atgatgtgcg ctaactggtc tgtagggcac aggaaccctg gctgccactc cactgcctac
     1261 ttctggcttc caagtgccct gtgctccatc cctagggatg tgattatccc aggaaattga
     1321 accacggggt tgttgagact tccactttgg aagatatgcc tcaccttggg gcctccatat
     1381 ctgcctttcc ctcagtagtt gggggcttca tctctttaga gaaagtccat gccaatcttt
     1441 gaatgtaacc aataccacta ataaaccagt ttagaatgtg gttcttctga tagagttggg
     1501 gaagatatga ataaacccaa agccctttta aacttgaaaa aaaaaaaaaa aaa
//
