LOCUS       NM_133995               3042 bp    mRNA    linear   ROD 09-FEB-2025
DEFINITION  Mus musculus ureidopropionase, beta (Upb1), mRNA.
ACCESSION   NM_133995
VERSION     NM_133995.4
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 3042)
  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 3042)
  AUTHORS   Butterfield,N.C., Curry,K.F., Steinberg,J., Dewhurst,H.,
            Komla-Ebri,D., Mannan,N.S., Adoum,A.T., Leitch,V.D., Logan,J.G.,
            Waung,J.A., Ghirardello,E., Southam,L., Youlten,S.E.,
            Wilkinson,J.M., McAninch,E.A., Vancollie,V.E., Kussy,F.,
            White,J.K., Lelliott,C.J., Adams,D.J., Jacques,R., Bianco,A.C.,
            Boyde,A., Zeggini,E., Croucher,P.I., Williams,G.R. and
            Bassett,J.H.D.
  TITLE     Accelerating functional gene discovery in osteoarthritis
  JOURNAL   Nat Commun 12 (1), 467 (2021)
   PUBMED   33473114
  REMARK    Erratum:[Nat Commun. 2021 May 28;12(1):3302. doi:
            10.1038/s41467-021-23768-8.. PMID: 34050183]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3042)
  AUTHORS   Ingham,N.J., Pearson,S.A., Vancollie,V.E., Rook,V., Lewis,M.A.,
            Chen,J., Buniello,A., Martelletti,E., Preite,L., Lam,C.C.,
            Weiss,F.D., Powis,Z., Suwannarat,P., Lelliott,C.J., Dawson,S.J.,
            White,J.K. and Steel,K.P.
  TITLE     Mouse screen reveals multiple new genes underlying mouse and human
            hearing loss
  JOURNAL   PLoS Biol 17 (4), e3000194 (2019)
   PUBMED   30973865
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3042)
  AUTHORS   Harten,S.K., Oey,H., Bourke,L.M., Bharti,V., Isbel,L., Daxinger,L.,
            Faou,P., Robertson,N., Matthews,J.M. and Whitelaw,E.
  TITLE     The recently identified modifier of murine metastable epialleles,
            Rearranged L-Myc Fusion, is involved in maintaining epigenetic
            marks at CpG island shores and enhancers
  JOURNAL   BMC Biol 13, 21 (2015)
   PUBMED   25857663
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3042)
  AUTHORS   van Kuilenburg,A.B., Dobritzsch,D., Meijer,J., Krumpel,M.,
            Selim,L.A., Rashed,M.S., Assmann,B., Meinsma,R., Lohkamp,B.,
            Ito,T., Abeling,N.G., Saito,K., Eto,K., Smitka,M., Engvall,M.,
            Zhang,C., Xu,W., Zoetekouw,L. and Hennekam,R.C.
  TITLE     ss-ureidopropionase deficiency: phenotype, genotype and protein
            structural consequences in 16 patients
  JOURNAL   Biochim Biophys Acta 1822 (7), 1096-1108 (2012)
   PUBMED   22525402
REFERENCE   6  (bases 1 to 3042)
  AUTHORS   van Kuilenburg,A.B., Meinsma,R., Beke,E., Assmann,B., Ribes,A.,
            Lorente,I., Busch,R., Mayatepek,E., Abeling,N.G., van Cruchten,A.,
            Stroomer,A.E., van Lenthe,H., Zoetekouw,L., Kulik,W.,
            Hoffmann,G.F., Voit,T., Wevers,R.A., Rutsch,F. and van Gennip,A.H.
  TITLE     beta-Ureidopropionase deficiency: an inborn error of pyrimidine
            degradation associated with neurological abnormalities
  JOURNAL   Hum Mol Genet 13 (22), 2793-2801 (2004)
   PUBMED   15385443
REFERENCE   7  (bases 1 to 3042)
  AUTHORS   Traut,T.W.
  TITLE     Beta-alanine synthase, an enzyme involved in catabolism of uracil
            and thymine
  JOURNAL   Methods Enzymol 324, 399-410 (2000)
   PUBMED   10989448
REFERENCE   8  (bases 1 to 3042)
  AUTHORS   Kvalnes-Krick,K.L. and Traut,T.W.
  TITLE     Cloning, sequencing, and expression of a cDNA encoding beta-alanine
            synthase from rat liver
  JOURNAL   J Biol Chem 268 (8), 5686-5693 (1993)
   PUBMED   8449931
  REMARK    GeneRIF: cloning and characterization of rat ortholog
REFERENCE   9  (bases 1 to 3042)
  AUTHORS   Sanno,Y., Holzer,M. and Schimke,R.T.
  TITLE     Studies of a mutation affecting pyrimidine degradation in inbred
            mice
  JOURNAL   J Biol Chem 245 (21), 5668-5676 (1970)
   PUBMED   5472365
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC137067.33 and AK149480.1.
            
            On Dec 19, 2013 this sequence version replaced NM_133995.3.
            
            Summary: This gene encodes an enzyme that catalyzes the conversion
            of N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine
            to beta-aminoisobutyric acid or beta-alanine. Mutations in the
            related gene in human have been associated with
            beta-ureidopropionase deficiency. [provided by RefSeq, Dec 2013].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK149480.1, BC021388.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849377, SAMN00849378
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-104               AC137067.33        187190-187293
            105-3042            AK149480.1         2-2939
FEATURES             Location/Qualifiers
     source          1..3042
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="10"
                     /map="10 38.53 cM"
     gene            1..3042
                     /gene="Upb1"
                     /note="ureidopropionase, beta"
                     /db_xref="GeneID:103149"
                     /db_xref="MGI:MGI:2143535"
     exon            1..249
                     /gene="Upb1"
                     /inference="alignment:Splign:2.1.0"
     CDS             146..1327
                     /gene="Upb1"
                     /EC_number="3.5.1.6"
                     /note="beta-alanine synthase; N-carbamoyl-beta-alanine
                     amidohydrolase"
                     /codon_start=1
                     /product="beta-ureidopropionase"
                     /protein_id="NP_598756.1"
                     /db_xref="CCDS:CCDS23925.1"
                     /db_xref="GeneID:103149"
                     /db_xref="MGI:MGI:2143535"
                     /translation="MAGPEWQSLEQCLEKHLPPDDLAQVKRILYGKQTRNLDLPREAL
                     KAASERNFELKGYAFGAAKEQQRCPQIVRVGLVQNRIPLPTSAPVAEQVSALHKSIEE
                     IAEVAAMCGVNIICFQEAWNMPFAFCTREKLPWTEFAESAEDGLTTRFCQKLAKKHNM
                     VVVSPILERDREHGGVLWNTAVVISNSGLVMGKTRKNHIPRVGDFNESTYYMEGNLGH
                     PVFQTQFGRIAVNICYGRHHPLNWLMYSINGAEIIFNPSATIGELSESLWPIEARNAA
                     IANHCFTCALNRVGQEHFPNEFTSGDGKKAHHDLGYFYGSSYVAAPDGSRTPGLSRNQ
                     DGLLVTELNLNLCQQINDFWTFKMTGRLEMYARELAEAVKPNYSPNIVKEDLVLAPSS
                     G"
     exon            250..421
                     /gene="Upb1"
                     /inference="alignment:Splign:2.1.0"
     exon            422..509
                     /gene="Upb1"
                     /inference="alignment:Splign:2.1.0"
     exon            510..604
                     /gene="Upb1"
                     /inference="alignment:Splign:2.1.0"
     exon            605..766
                     /gene="Upb1"
                     /inference="alignment:Splign:2.1.0"
     exon            767..936
                     /gene="Upb1"
                     /inference="alignment:Splign:2.1.0"
     exon            937..1018
                     /gene="Upb1"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1061
                     /gene="Upb1"
                     /inference="alignment:Splign:2.1.0"
     exon            1062..1216
                     /gene="Upb1"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..3042
                     /gene="Upb1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1529..1534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Upb1"
                     /note="hexamer: ATTAAA"
     polyA_site      1560
                     /gene="Upb1"
                     /note="major polyA site"
ORIGIN      
        1 gttgccagca tgtgaaccct cctcacagag caccaaatcc cgtgcctctg gagacctgcc
       61 aggctgctgc ctccttctcc ccatactcca ggccgagggc aggccattcg tgtgggacat
      121 cagtccctgc aaccagcttc tggccatggc gggaccggag tggcagtccc tggagcagtg
      181 cctggaaaaa catctgccgc ctgacgattt ggcccaggtg aagcgaattc tctacggcaa
      241 gcagactagg aatctcgatc tgcccagaga agctttaaaa gctgcctcag aaaggaactt
      301 tgaactgaag ggatatgcct tcggggcagc caaggagcag cagagatgcc cccagatcgt
      361 gcgcgtgggg ctcgttcaga acagaatccc gctccccact tctgcccccg tggcagaaca
      421 ggtctctgcg ctccacaaga gcatagagga gattgctgag gtggccgcaa tgtgtggagt
      481 caatatcatc tgtttccagg aagcatggaa tatgccgttc gctttttgta cacgagagaa
      541 acttccttgg acagaatttg ctgagtcggc cgaggatggg ctcaccacca ggttctgtca
      601 gaagctggca aagaagcaca acatggtggt ggtgtctcca atcttggagc gtgatagaga
      661 gcatggggga gttctgtgga acacagctgt ggtgatctcc aattcagggc tggtcatggg
      721 gaagaccaga aagaaccaca tccccagagt gggagacttc aacgagtcca cttactacat
      781 ggagggaaac ctgggccacc ccgtgttcca gacccagttt ggcaggattg cagtgaacat
      841 ttgctatggg cggcaccacc ccctcaactg gctcatgtac agcatcaacg gagctgaaat
      901 catcttcaac ccttcggcca ccattggaga actcagtgag tccttgtggc cgatcgaagc
      961 cagaaatgca gccattgcca atcactgctt cacctgtgct ctcaaccgtg tgggtcagga
     1021 acacttcccc aatgagttta cttctggaga tggaaagaaa gctcaccatg acctcggcta
     1081 cttctatggt tcgagctatg tggcagctcc cgatggcagc cggacccccg gcctctcccg
     1141 taatcaggat gggctgctgg tcacggagct caacctcaat ctctgccagc agatcaatga
     1201 tttctggact ttcaagatga cgggacgact tgagatgtat gcccgggaac ttgccgaagc
     1261 ggtcaaaccc aactacagtc ccaacattgt gaaggaagac ctggtactag cccctagctc
     1321 gggttaggtt tggggacata tccggcccca gtggataagt tttaaaatgt atacaaggcg
     1381 gagtttttaa tactcaggca ggaggagggt agaataggca cttaactgcg tatgtgtgat
     1441 aattgttaat gatgaatatg agaactttct tctggggact tggaaatgtt tggggattca
     1501 aaagatgatt caacatcatt gaaattttat taaatgtgac tggatcggta tacttcaaaa
     1561 gtgttttgtg tagtgtagat tctaccccag gataagatgc tgtaggatca tattaaggcc
     1621 atggaaagga gctggtccgg aggagaatgg gatgtggtaa tacctgggcg tgggcagctt
     1681 tgatagactt cccagcttcc caccctggtc tccatttgtg tctataatga gatgctacgt
     1741 ggaccaggcc gaccttctct gctcctctac ctggtgtcct gttcctcagc tccattccga
     1801 ccccatctca aggttccatc agctcctcaa ggggcaatct gggaaactgt gtactagcag
     1861 gaagacagta agagcagatg agagtcacag agaccatagc atctctgtga gcagatggac
     1921 tgttcatagg ataagctgag tcaacttagc tatggcccaa ttattcaggc aggcacaaac
     1981 ctaggtgtct tagttaggac tttactgaac agacaccatt accaaagcaa aattataagg
     2041 acgatattta attggggctg cttacgggtt cagaggttca gtccattatc atctaggtgg
     2101 gaacatggca gcatccaagc cgacctggtg cagaagaagc tgagagttct acatcttcat
     2161 ttgaaggcag tcaggagaag actggcttcc agacagctag gatgagggtc ttaaagccca
     2221 cgcccacagt gacacaccta ctctagcaaa gccaccaaat agtgccactc cctgggccaa
     2281 gcatattaca aaccatcaca ctaggtgatg cagagaattt gaggtgggag acatggtccc
     2341 attgtcttgc cggtcttgaa ctcaggatca aagcaccatc ctgccttcta agtagctagg
     2401 actacaggta tgtgccacca tgcccagcac tgtgcaaagg tatcttacaa atgtgatcaa
     2461 agtttacagc ctgttgactg atcatgccat aaaactaagg tgaacctcac tcagtctgct
     2521 tacagcgcta acaagcatcc ttgagccttc catgaggaag aaggaattct gtgtagacaa
     2581 cagttccagc ccctggcaag acagtcagcc tgcctccttg acatctctcc ctggagttat
     2641 tagactgacc tagccaactg ccccacccca cccccttcac ctcctcataa tatctcctaa
     2701 catgttgcct gtgagtactg cctctggttg ggctaactga tacaggcttt gatgcccaaa
     2761 ggaacagaag cttaggggat gagtttccct ctctgggtct gggtttctgg aatgttttcc
     2821 atttgatttg gtttaaaggc accaatgact ctgtttcctg tggtaaacac agaagtggtt
     2881 gctcgtggca cgatgggtgc caccattaac atctacgtgt ggggccgatc gcagccaggg
     2941 cccaagtgca ccagcctgcc tgcccttcct ggtggccttc cctgtgggtc tcaggcttgt
     3001 gtaatcaggc ttcctatcgt cccatcagga agttctttgt ac
//
