LOCUS       NM_008769               2291 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus ornithine transcarbamylase (Otc), transcript variant
            1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_008769
VERSION     NM_008769.5
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 2291)
  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 2291)
  AUTHORS   Santamaria,R., Ballester,M., Garcia-Llorens,G., Martinez,F.,
            Blazquez,M., Ribes-Koninckx,C., Castell,J.V., Wuestefeld,T. and
            Bort,R.
  TITLE     Derivation of healthy hepatocyte-like cells from a female patient
            with ornithine transcarbamylase deficiency through X-inactivation
            selection
  JOURNAL   Sci Rep 12 (1), 2308 (2022)
   PUBMED   35145162
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2291)
  AUTHORS   Soria,L.R., Gurung,S., De Sabbata,G., Perocheau,D.P., De
            Angelis,A., Bruno,G., Polishchuk,E., Paris,D., Cuomo,P., Motta,A.,
            Orford,M., Khalil,Y., Eaton,S., Mills,P.B., Waddington,S.N.,
            Settembre,C., Muro,A.F., Baruteau,J. and Brunetti-Pierri,N.
  TITLE     Beclin-1-mediated activation of autophagy improves proximal and
            distal urea cycle disorders
  JOURNAL   EMBO Mol Med 13 (2), e13158 (2021)
   PUBMED   33369168
REFERENCE   4  (bases 1 to 2291)
  AUTHORS   Cavino,K., Sung,B., Su,Q., Na,E., Kim,J., Cheng,X., Gromada,J. and
            Okamoto,H.
  TITLE     Glucagon Receptor Inhibition Reduces Hyperammonemia and Lethality
            in Male Mice with Urea Cycle Disorder
  JOURNAL   Endocrinology 162 (1) (2021)
   PUBMED   33206168
REFERENCE   5  (bases 1 to 2291)
  AUTHORS   Balestra,D., Ferrarese,M., Lombardi,S., Ziliotto,N., Branchini,A.,
            Petersen,N., Bosma,P., Pinotti,M. and van de Graaf,S.F.J.
  TITLE     An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic
            OTC Expression in a Splicing-Defective spf/ash Mouse Model of
            Ornithine Transcarbamylase Deficiency
  JOURNAL   Int J Mol Sci 21 (22), 8735 (2020)
   PUBMED   33228018
  REMARK    GeneRIF: An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves
            Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model
            of Ornithine Transcarbamylase Deficiency.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2291)
  AUTHORS   Robinson,M.B., Anegawa,N.J., Gorry,E., Qureshi,I.A., Coyle,J.T.,
            Lucki,I. and Batshaw,M.L.
  TITLE     Brain serotonin2 and serotonin1A receptors are altered in the
            congenitally hyperammonemic sparse fur mouse
  JOURNAL   J Neurochem 58 (3), 1016-1022 (1992)
   PUBMED   1531355
REFERENCE   7  (bases 1 to 2291)
  AUTHORS   Grompe,M., Jones,S.N., Loulseged,H. and Caskey,C.T.
  TITLE     Retroviral-mediated gene transfer of human ornithine
            transcarbamylase into primary hepatocytes of spf and spf-ash mice
  JOURNAL   Hum Gene Ther 3 (1), 35-44 (1992)
   PUBMED   1562638
REFERENCE   8  (bases 1 to 2291)
  AUTHORS   Selkirk,J.K., Hite,M.C., Godfrey,V., Merrick,B.A., He,C.,
            Griesemer,R.A., Daluge,D.R. and Mansfield,B.K.
  TITLE     Two-dimensional polyacrylamide gel electrophoretic characterization
            of proteins from organs of C3H mice expressing the scurfy (sf)
            genetic mutation during early and late stages of disease
            progression
  JOURNAL   Appl Theor Electrophor 3 (2), 97-107 (1992)
   PUBMED   1477119
REFERENCE   9  (bases 1 to 2291)
  AUTHORS   Kristensen,T., Lopez,R. and Prydz,H.
  TITLE     An estimate of the sequencing error frequency in the DNA sequence
            databases
  JOURNAL   DNA Seq 2 (6), 343-346 (1992)
   PUBMED   1446073
  REMARK    Erratum:[DNA Seq 1993;3(5):337]
REFERENCE   10 (bases 1 to 2291)
  AUTHORS   Kobayashi,K., Horiuchi,M., Yokokouji,A., Shimada,T. and Saheki,T.
  TITLE     Simultaneous detection of mutant gene and transgene in ornithine
            carbamoyl-transferase-deficient spf-ash mice with rat OCT gene
  JOURNAL   J Inherit Metab Dis 15 (5), 792-796 (1992)
   PUBMED   1434519
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL671042.10.
            
            On Aug 31, 2022 this sequence version replaced NM_008769.4.
            
            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 :: AK050930.1, M17030.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849377, SAMN00849378
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-169               AL671042.10        114847-115015
            170-308             AL671042.10        127298-127436
            309-390             AL671042.10        129326-129407
            391-478             AL671042.10        139141-139228
            479-632             AL671042.10        162817-162970
            633-755             AL671042.10        165763-165885
            756-809             AL671042.10        171271-171324
            810-959             AL671042.10        171413-171562
            960-1097            AL671042.10        174895-175032
            1098-2291           AL671042.10        182345-183538
FEATURES             Location/Qualifiers
     source          1..2291
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 4.66 cM"
     gene            1..2291
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /note="ornithine transcarbamylase"
                     /db_xref="GeneID:18416"
                     /db_xref="MGI:MGI:97448"
     exon            1..169
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..1157
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /EC_number="2.1.3.3"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; ornithine carbamoyltransferase, mitochondrial;
                     OTCase; ornithine transcarbamylase, mitochondrial"
                     /codon_start=1
                     /product="ornithine transcarbamylase, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_032795.1"
                     /db_xref="CCDS:CCDS30015.1"
                     /db_xref="GeneID:18416"
                     /db_xref="MGI:MGI:97448"
                     /translation="MLSNLRILLNNAALRKGHTSVVRHFWCGKPVQSQVQLKGRDLLT
                     LKNFTGEEIQYMLWLSADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETGFA
                     LLGGHPSFLTTQDIHLGVNESLTDTARVLSSMTDAVLARVYKQSDLDTLAKEASIPIV
                     NGLSDLYHPIQILADYLTLQEHYGSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAA
                     TPKGYEPDPNIVKLAEQYAKENGTKLSMTNDPLEAARGGNVLITDTWISMGQEDEKKK
                     RLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTI
                     MAVMVSLLTDYSPVLQKPKF"
     exon            170..308
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /inference="alignment:Splign:2.1.0"
     exon            309..390
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /inference="alignment:Splign:2.1.0"
     exon            391..478
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /inference="alignment:Splign:2.1.0"
     exon            479..632
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /inference="alignment:Splign:2.1.0"
     exon            633..755
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /inference="alignment:Splign:2.1.0"
     exon            756..809
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /inference="alignment:Splign:2.1.0"
     exon            810..959
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /inference="alignment:Splign:2.1.0"
     exon            960..1097
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..2291
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1360
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /note="major polyA site"
     regulatory      1477..1482
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /note="hexamer: ATTAAA"
     polyA_site      1496
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
     regulatory      1507..1512
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /note="hexamer: ATTAAA"
     polyA_site      1536
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
     regulatory      1563..1568
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /note="hexamer: AATAAA"
     polyA_site      1586
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
     polyA_site      1611
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
     regulatory      1987..1992
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /note="hexamer: CATAAA"
     polyA_site      2009
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
     regulatory      2264..2269
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /note="hexamer: AATAAA"
     polyA_site      2291
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
ORIGIN      
        1 attcttagct tgccagtggc ccccactgcc tgcctgcctg cctgtggagc tctctagacc
       61 acagattcct ccttcactct agcaaaaaga agatgctgtc taatttgagg atcctgctca
      121 acaatgcagc tcttagaaag ggtcacactt ctgtggttcg acatttttgg tgtgggaagc
      181 cagtccaaag tcaagtacag ctgaaaggcc gtgacctcct caccttgaag aacttcacag
      241 gagaggagat tcagtacatg ctatggctct ctgcagatct gaaattcagg atcaagcaga
      301 aaggagaata tttaccttta ttgcaaggga aatccttagg aatgattttt gagaaaagaa
      361 gtactcgaac aagactgtcc acagaaacag gctttgctct gctgggagga cacccttcct
      421 ttcttaccac acaagacatt cacttgggtg tgaatgaaag tctcacagac accgctcgtg
      481 tcttatctag catgacagat gcagtgttag ctcgagtgta taaacaatca gatctggaca
      541 ccctggctaa agaagcatcc atcccaattg tcaatggact gtcagacttg tatcatccta
      601 tccagatcct ggctgattac cttacactcc aggaacacta tggctctctc aaaggtctta
      661 ccctcagctg gataggggat gggaacaata tcttgcactc tatcatgatg agtgctgcaa
      721 aattcgggat gcaccttcaa gcagctactc caaagggtta tgagccagat cctaatatag
      781 tcaagctagc agagcagtat gccaaggaga atggtaccaa gttgtcaatg acaaatgatc
      841 cactggaagc agcacgtgga ggcaatgtat taattacaga tacttggata agcatgggac
      901 aagaggatga gaagaaaaag cgtcttcaag ctttccaagg ttaccaggtt acgatgaaga
      961 ctgccaaagt ggctgcgtct gactggacat ttttacactg tttgcctaga aagccagaag
     1021 aagtggatga tgaagtattt tattctccac ggtcattagt gttcccagag gcagagaata
     1081 gaaagtggac aatcatggct gtcatggtat ccctgctgac agactactca cctgtgctcc
     1141 agaagccaaa gttttgatgc ctgtcaaaag gaaaaaaaca gaaaacaaaa caataacaat
     1201 aacaacaaca acaacaaaaa cccctctgtt ctttagcaat agaataagtc agtttatgtg
     1261 ggaaagagaa gaatttaaaa ttgtaaacac atccctagtg catggtatga ttatgtaatt
     1321 gctttgctat tatgagaatt tcttaaagct tttagtttaa gtgcctggca ttttattatc
     1381 ctgcttgact tggtttaaac actctcttca atttacaacc tctgaatgac atttgggtat
     1441 catattaatt atcatacaca tttccttcca ctaaacatta aacactttgc ttacaatgtc
     1501 taagtcatta aatgtaatct aagcttatta ccttaataag ggatcattca tgctcattta
     1561 taaataaaca tttgccaggc agtcaactgc tggtaagttc atgggcctta agaccaatgg
     1621 agaaatcaaa tgacttacat cctgcaaatg agtacaattt tcaggccaat gagggaagac
     1681 agacagtcaa agagagatta tgtaattctt taaaaaggac aatttgccca tactgaagta
     1741 tttttcttat catttatgga aatattggag tctgtcaagt gtatacatct atgtatccac
     1801 tagttcatgt tgtaactgga aaggttggtt aatatatgat atggtagagc tgtgggtacc
     1861 catccaggaa tgtgtgtcca ttacagactc acatagtcca taattacaat ttttccatta
     1921 ggaacaattt aatttctcac atctgtgctt atcacaaata tactcatgct acacatggac
     1981 aatttccata aatctactat ttgccaacat ttcatttgcc gttttctcat cacaatttga
     2041 atagatctcc tttgtgggtg atcaaatcat caaatgatta taaatatttt tagttgataa
     2101 tttaaataat ataggaggtt gttcttaaaa taacacattt tatctggacc aaataatgta
     2161 atttacttca tgttccaccc ctattttaaa aaaaatgttt tcagtctggt tgactgatat
     2221 tctttaacag acattgatga cttaaatgag taagcaagcg atgaataaaa aaaatagata
     2281 tagtccttcc a
//
