LOCUS       NM_016327               3823 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens beta-ureidopropionase 1 (UPB1), mRNA.
ACCESSION   NM_016327
VERSION     NM_016327.3
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 3823)
  AUTHORS   Zhang,L., Liu,J., Wang,H., Xu,Z., Wang,Y., Chen,Y. and Peng,H.
  TITLE     Low UPB1 Level Correlates With Poor Prognosis in Lung
            Adenocarcinoma
  JOURNAL   Appl Immunohistochem Mol Morphol 32 (1), 44-52 (2024)
   PUBMED   37859333
  REMARK    GeneRIF: Low UPB1 Level Correlates With Poor Prognosis in Lung
            Adenocarcinoma.
REFERENCE   2  (bases 1 to 3823)
  AUTHORS   Cederfelt,D., Badgujar,D., Au Musse,A., Lohkamp,B., Danielson,U.H.
            and Dobritzsch,D.
  TITLE     The Allosteric Regulation of Beta-Ureidopropionase Depends on
            Fine-Tuned Stability of Active-Site Loops and Subunit Interfaces
  JOURNAL   Biomolecules 13 (12), 1763 (2023)
   PUBMED   38136634
  REMARK    GeneRIF: The Allosteric Regulation of Beta-Ureidopropionase Depends
            on Fine-Tuned Stability of Active-Site Loops and Subunit
            Interfaces.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3823)
  AUTHORS   Righetti,S., Allcock,R.J.N., Yaplito-Lee,J., Adams,L., Ellaway,C.,
            Jones,K.J., Selvanathan,A., Fletcher,J., Pitt,J., van
            Kuilenburg,A.B.P., Delatycki,M.B., Laing,N.G. and Kirk,E.P.
  TITLE     The relationship between beta-ureidopropionase deficiency due to
            UPB1 variants and human phenotypes is uncertain
  JOURNAL   Mol Genet Metab 137 (1-2), 62-67 (2022)
   PUBMED   35926322
  REMARK    GeneRIF: The relationship between beta-ureidopropionase deficiency
            due to UPB1 variants and human phenotypes is uncertain.
REFERENCE   4  (bases 1 to 3823)
  AUTHORS   Dobritzsch,D., Meijer,J., Meinsma,R., Maurer,D., Monavari,A.A.,
            Gummesson,A., Reims,A., Cayuela,J.A., Kuklina,N., Benoist,J.F.,
            Perrin,L., Assmann,B., Hoffmann,G.F., Bierau,J., Kaindl,A.M. and
            van Kuilenburg,A.B.P.
  TITLE     beta-Ureidopropionase deficiency due to novel and rare UPB1
            mutations affecting pre-mRNA splicing and protein structural
            integrity and catalytic activity
  JOURNAL   Mol Genet Metab 136 (3), 177-185 (2022)
   PUBMED   35151535
  REMARK    GeneRIF: beta-Ureidopropionase deficiency due to novel and rare
            UPB1 mutations affecting pre-mRNA splicing and protein structural
            integrity and catalytic activity.
REFERENCE   5  (bases 1 to 3823)
  AUTHORS   Shu,J., Sun,B., Wang,C., Pan,R., Meng,Y., Zhang,C., Cai,C., Lin,S.
            and Zhang,Y.
  TITLE     [Identification of a novel mutation of UPB1 gene in a Chinese
            family affected with beta-ureidopropinoase deficiency]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 35 (6), 824-827 (2018)
   PUBMED   30512155
  REMARK    GeneRIF: The compound heterozygous mutations of the UPB1 gene
            probably underlie the beta-ureidopropinoase deficiency in this
            fabily pedigree.
REFERENCE   6  (bases 1 to 3823)
  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
  REMARK    GeneRIF: An altered homeostasis of beta-aminoisobutyric acid and/or
            increased oxidative stress might contribute to some of the clinical
            abnormalities encountered in patients with a beta-ureidopropionase
            deficiency.
REFERENCE   7  (bases 1 to 3823)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   8  (bases 1 to 3823)
  AUTHORS   Sakamoto,T., Sakata,S.F., Matsuda,K., Horikawa,Y. and Tamaki,N.
  TITLE     Expression and properties of human liver beta-ureidopropionase
  JOURNAL   J Nutr Sci Vitaminol (Tokyo) 47 (2), 132-138 (2001)
   PUBMED   11508704
REFERENCE   9  (bases 1 to 3823)
  AUTHORS   Vreken,P., van Kuilenburg,A.B., Hamajima,N., Meinsma,R., van
            Lenthe,H., Gohlich-Ratmann,G., Assmann,B.E., Wevers,R.A. and van
            Gennip,A.H.
  TITLE     cDNA cloning, genomic structure and chromosomal localization of the
            human BUP-1 gene encoding beta-ureidopropionase
  JOURNAL   Biochim Biophys Acta 1447 (2-3), 251-257 (1999)
   PUBMED   10542323
REFERENCE   10 (bases 1 to 3823)
  AUTHORS   Naguib,F.N., el Kouni,M.H. and Cha,S.
  TITLE     Enzymes of uracil catabolism in normal and neoplastic human tissues
  JOURNAL   Cancer Res 45 (11 Pt 1), 5405-5412 (1985)
   PUBMED   3931905
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CR456375.1, BC033388.1 and
            AP000355.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_016327.2.
            
            Summary: This gene encodes a protein that belongs to the CN
            hydrolase family. Beta-ureidopropionase catalyzes the last step in
            the pyrimidine degradation pathway. The pyrimidine bases uracil and
            thymine are degraded via the consecutive action of
            dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP)
            and beta-ureidopropionase (UP) to beta-alanine and
            beta-aminoisobutyric acid, respectively. UP deficiencies are
            associated with N-carbamyl-beta-amino aciduria and may lead to
            abnormalities in neurological activity. [provided by RefSeq, Jul
            2008].
            
            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 :: SRR5189664.32394.1,
                                           SRR5189664.69594.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326010.10/ ENSP00000324343.5
            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
            1-436               CR456375.1         50-485
            437-2018            BC033388.1         383-1964
            2019-3823           AP000355.1         163672-165476
FEATURES             Location/Qualifiers
     source          1..3823
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     gene            1..3823
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /note="beta-ureidopropionase 1"
                     /db_xref="GeneID:51733"
                     /db_xref="HGNC:HGNC:16297"
                     /db_xref="MIM:606673"
     exon            1..176
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1227
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /EC_number="3.5.1.6"
                     /note="beta-alanine synthase; n-carbamoyl-beta-alanine
                     amidohydrolase; ureidopropionase, beta"
                     /codon_start=1
                     /product="beta-ureidopropionase"
                     /protein_id="NP_057411.1"
                     /db_xref="CCDS:CCDS13827.1"
                     /db_xref="GeneID:51733"
                     /db_xref="HGNC:HGNC:16297"
                     /db_xref="MIM:606673"
                     /translation="MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAF
                     EAASREDFELQGYAFEAAEEQLRRPRIVHVGLVQNRIPLPANAPVAEQVSALHRRIKA
                     IVEVAAMCGVNIICFQEAWTMPFAFCTREKLPWTEFAESAEDGPTTRFCQKLAKNHDM
                     VVVSPILERDSEHGDVLWNTAVVISNSGAVLGKTRKNHIPRVGDFNESTYYMEGNLGH
                     PVFQTQFGRIAVNICYGRHHPLNWLMYSINGAEIIFNPSATIGALSESLWPIEARNAA
                     IANHCFTCAINRVGTEHFPNEFTSGDGKKAHQDFGYFYGSSYVAAPDSSRTPGLSRSR
                     DGLLVAKLDLNLCQQVNDVWNFKMTGRYEMYARELAEAVKSNYSPTIVKE"
     exon            177..348
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            349..436
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            437..531
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            532..693
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            694..863
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            864..945
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            946..988
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1143
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..3823
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1996..2001
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /note="hexamer: AATAAA"
     polyA_site      2018
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /note="major polyA site"
     regulatory      2084..2089
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /note="hexamer: AATAGA"
     polyA_site      2102
                     /gene="UPB1"
                     /gene_synonym="BUP1"
     regulatory      3806..3811
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UPB1"
                     /gene_synonym="BUP1"
                     /note="hexamer: AGTAAA"
     polyA_site      3823
                     /gene="UPB1"
                     /gene_synonym="BUP1"
ORIGIN      
        1 gggcacctcc tcccactgcg ggcaaagggc aggcagttcg tgcgcggaca caagcactgg
       61 cggaccgtgg ccatggcggg cgctgagtgg aagtcgctgg aggaatgctt ggagaagcac
      121 ctgccgctcc ccgacttgca ggaagtgaag cgcgttctct atggcaagga actcaggaag
      181 cttgatctgc ccagggaagc tttcgaagct gcctccagag aagactttga actgcaggga
      241 tatgcctttg aagcagcgga ggagcagctg agacgacccc gcattgtgca cgtggggctg
      301 gttcagaaca gaatccccct ccccgcaaat gcccctgtgg cagaacaggt ctctgccctt
      361 catagacgca taaaggctat cgtagaggtg gctgcaatgt gtggagtcaa catcatctgt
      421 ttccaggaag catggactat gccctttgcc ttctgtacga gagagaagct tccttggaca
      481 gaatttgctg agtcagcaga ggatgggccc accaccagat tctgtcagaa gctggcgaag
      541 aaccatgaca tggtggtggt gtctcccatc ctggaacgag acagcgagca tggggatgtt
      601 ttgtggaata cagccgtggt gatctccaat tccggagcag tcctgggaaa gaccaggaaa
      661 aaccacatcc ccagagtggg tgatttcaac gagtcaactt actacatgga gggaaacctg
      721 ggccaccccg tgttccagac gcagttcgga aggatcgcgg tgaacatttg ctacgggcgg
      781 caccaccccc tcaactggct tatgtacagc atcaacgggg ctgagatcat cttcaacccc
      841 tcggccacga taggagcact cagcgagtcc ctgtggccca tcgaggccag aaacgcagcc
      901 attgccaatc actgcttcac ctgcgccatc aatcgagtgg gcaccgagca cttcccgaac
      961 gagtttacct cgggagatgg aaagaaagct caccaggact ttggctactt ttatggctcg
     1021 agctatgtgg cagcccctga cagcagccgg actcctgggc tgtcccgtag ccgggatgga
     1081 ctgctagttg ctaagctcga cctaaacctc tgccagcagg tgaatgatgt ctggaacttc
     1141 aagatgacgg gcaggtatga gatgtacgca cgggagctcg ccgaagctgt caagtccaac
     1201 tacagcccca ccatcgtgaa agagtagccg gcttcagtgc ctgccttggg gtgaggaaga
     1261 cacctctgcc ccagtggatt agcaagtgtg gcaggcttaa catgtccagg ttctccccaa
     1321 taacattgtc caggttggtt ttaaaattcc caggcagggg gagagtggca tggggagtga
     1381 cttcttaatg ggtaaggggc tgcttacttc tggggtattg gaaatgtttg gggactaggt
     1441 agaggtgaat gtactaaatg ccactgaatt tgtatacttc agaatgtttg ttatgtaaat
     1501 tttacctcaa ctaaaaaaaa aaatgcccag gtactgcttg tgcaggtgga tttgaggtta
     1561 ggcagatgat gctgtccatc ccgtacacca gtgggaagag ggtgagggct gatccagaga
     1621 ccctgagcct acagcaaggc tgtggtgggt cggatggtct ttggatgtgt cagcttagct
     1681 aggccacagt caccagtaat tcaatcagac actaatctag gtatttctgt gaaggtattt
     1741 tgtagatgtg acagaagtcc attcccaatt gactaagtaa gtgagattat ctcagataat
     1801 ctgggtcagc ctgacctgat tagtcagaag gcctaaagaa cagagctaag ggtttccctg
     1861 aggaagaaat tctgcctgag gacagcagcc cagtgcttgg cgagagttcc tgacagtctg
     1921 cccttctgat agcctgcctc acagagttta gacatgacta gccagctcct acaatcactg
     1981 aagtcaattc cttgcaataa atctcaatat atcccctact ggttctgctt ctctagttga
     2041 atctgactga tacagatttt ggtgccaaaa gtggttctag aaaaatagaa tcttaaagat
     2101 gagttttctg cattggttct ggattttttt agaattcttc cctagtttga ttgaacttaa
     2161 aggcatcaat gactctattt ccatagagtc agggtaaaga gggtagttgg tagtccatgg
     2221 catggtgcag caatagttat ttatgtgcga gactagccat cagccatcag tttgtgccca
     2281 gagttccagc ctgccctttc tgatggcttg tcctgtggat atcagacttg cctgaccaga
     2341 ttccatcatc atagaaggta atttgttgca ctaaatcctt ttatatctct atccatcacc
     2401 tactaattct gctagttctg ctaatgtggt tgagctccat tttacacatc agattactca
     2461 cttctctaca ccttggtttt tacatctgta aaatgggact gggccaggtg tggtggggtg
     2521 gcttatgcct gtgatcccag cactttggga agccaaggca ggtggatcac ttgaggtcag
     2581 gagttcaaga ccagcctggc caacacggcg aaaccccgtc tctactaaaa atacaaaaat
     2641 tagctgggca tggtggcgca tgcctataat cccagctact cagcaggctg aggtatgaga
     2701 attgcttgaa tctgggaggc aaaggctgca gtgagctgag atcacgccac tgtgctccag
     2761 cctggacaac agagtgagag cctatctcca aaaaaaaaaa ggggtgggga ccatattcct
     2821 gctttatgtc aagacactgg taagagacag actagatggg ccagggagcc ccttggcagt
     2881 tatcagtgca gcgcctattt agccctgtcc ctgaacaaca cggcaagagc ccaacctgcc
     2941 aagtctcaaa tagcagttaa ccagagtatc gggttggagg tggggttgag attctgtaat
     3001 tccccgctta ttgttcccaa tcagagaagg cagccagaga aggcagcttc atcccttcac
     3061 tggcccagca gctgaactat atggaaacct ccatgtcagg gctagggtac tcctggacag
     3121 ccaccaagga tgagaaaccc tgatggagct gcctggccac agctctgcgg taacttcctt
     3181 gaactctctg tgctgcaggt tttcacttta cctaatggcc cttcttgcac ctttaaaaaa
     3241 aaaaaaaaaa aattccagtc ctacagacac agtgagcttt tttgcctgtt cctttagctt
     3301 tcaaaattta gtgtcagcca aggcgggcag atcacaaggt caagagatgg aaaccatcct
     3361 ggccaacatg gtgaaacccc atctctacta aaaatacaaa aattagctgg gtatggtggc
     3421 gcacgcctgt agtcccaggt actcagcagg ctgagggagg agaatcactt gaacccggga
     3481 ggcggaggtt gcagtgagcc gagatcacac cactgcactc cagcttggcg acagagtgag
     3541 actccgtctc aaaaaacaaa acaaaacaaa acaccttagt gtttttggtt tctagagggt
     3601 gtaatcaacc taatacagaa gccagcttag gtgacaaatt ggtacatttg tgaaacaggc
     3661 atgaataaat ggaccacaac tctttgatta tctgcaactc tcattgcctg gaaacagaac
     3721 agtcaggccc atcttagagt atgcaggccc tgtacagcca aggtcatttc aaggtttaac
     3781 tcatccctgg aacatgcaga tgctcagtaa acatttgaat gaa
//
