LOCUS       NP_032795                354 aa            linear   ROD 01-MAY-2025
DEFINITION  ornithine transcarbamylase, mitochondrial isoform 1 precursor [Mus
            musculus].
ACCESSION   NP_032795
VERSION     NP_032795.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 354)
  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  (residues 1 to 354)
  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  (residues 1 to 354)
  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  (residues 1 to 354)
  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  (residues 1 to 354)
  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  (residues 1 to 354)
  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  (residues 1 to 354)
  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  (residues 1 to 354)
  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  (residues 1 to 354)
  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 (residues 1 to 354)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..354
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 4.66 cM"
     Protein         1..354
                     /product="ornithine transcarbamylase, mitochondrial
                     isoform 1 precursor"
                     /EC_number="2.1.3.3"
                     /note="ornithine carbamoyltransferase, mitochondrial;
                     OTCase; ornithine transcarbamylase, mitochondrial"
                     /calculated_mol_wt=36123
     transit_peptide 1..32
                     /note="Mitochondrion.
                     /evidence=ECO:0000250|UniProtKB:P00480; propagated from
                     UniProtKB/Swiss-Prot (P11725.1)"
                     /calculated_mol_wt=3660
     mat_peptide     33..354
                     /product="Ornithine transcarbamylase, mitochondrial.
                     /id=PRO_0000020335"
                     /note="propagated from UniProtKB/Swiss-Prot (P11725.1)"
                     /calculated_mol_wt=36123
     Region          35..342
                     /region_name="ArgF"
                     /note="Ornithine carbamoyltransferase [Amino acid
                     transport and metabolism]; COG0078"
                     /db_xref="CDD:439848"
     Site            70
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:23576753; propagated from
                     UniProtKB/Swiss-Prot (P11725.1)"
     Site            88
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:23576753; propagated from
                     UniProtKB/Swiss-Prot (P11725.1)"
     Site            133
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P00480; propagated from
                     UniProtKB/Swiss-Prot (P11725.1)"
     Site            144
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:23576753; propagated from
                     UniProtKB/Swiss-Prot (P11725.1)"
     Site            221
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:23576753; propagated from
                     UniProtKB/Swiss-Prot (P11725.1)"
     Site            231
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:23576753; propagated from
                     UniProtKB/Swiss-Prot (P11725.1)"
     Site            238
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:23576753; propagated from
                     UniProtKB/Swiss-Prot (P11725.1)"
     Site            243
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:23576753; propagated from
                     UniProtKB/Swiss-Prot (P11725.1)"
     Site            292
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:23576753; propagated from
                     UniProtKB/Swiss-Prot (P11725.1)"
     Site            307
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:23576753; propagated from
                     UniProtKB/Swiss-Prot (P11725.1)"
     CDS             1..354
                     /gene="Otc"
                     /gene_synonym="Sf; spf"
                     /coded_by="NM_008769.5:93..1157"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS30015.1"
                     /db_xref="GeneID:18416"
                     /db_xref="MGI:MGI:97448"
ORIGIN      
        1 mlsnlrilln naalrkghts vvrhfwcgkp vqsqvqlkgr dlltlknftg eeiqymlwls
       61 adlkfrikqk geylpllqgk slgmifekrs trtrlstetg fallgghpsf lttqdihlgv
      121 nesltdtarv lssmtdavla rvykqsdldt lakeasipiv nglsdlyhpi qiladyltlq
      181 ehygslkglt lswigdgnni lhsimmsaak fgmhlqaatp kgyepdpniv klaeqyaken
      241 gtklsmtndp leaarggnvl itdtwismgq edekkkrlqa fqgyqvtmkt akvaasdwtf
      301 lhclprkpee vddevfyspr slvfpeaenr kwtimavmvs lltdyspvlq kpkf
//
