LOCUS       NM_000531               1522 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens ornithine transcarbamylase (OTC), transcript variant
            1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000531
VERSION     NM_000531.6
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 1522)
  AUTHORS   Zhou,Y., Jiang,X., Zhang,Y., Zhang,Y., Sun,F. and Ma,Y.
  TITLE     Variant analysis and PGT-M of OTC gene in a Chinese family with
            ornithine carbamoyltransferase deficiency
  JOURNAL   BMC Pregnancy Childbirth 24 (1), 491 (2024)
   PUBMED   39039447
  REMARK    GeneRIF: Variant analysis and PGT-M of OTC gene in a Chinese family
            with ornithine carbamoyltransferase deficiency.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1522)
  AUTHORS   Watson,S.S., Micheloni,E., Ngu,L., Barnsley,K.K., Makowski,L.,
            Beuning,P.J. and Ondrechen,M.J.
  TITLE     Revisiting the Roles of Catalytic Residues in Human Ornithine
            Transcarbamylase
  JOURNAL   Biochemistry 63 (14), 1858-1875 (2024)
   PUBMED   38940639
  REMARK    GeneRIF: Revisiting the Roles of Catalytic Residues in Human
            Ornithine Transcarbamylase.
REFERENCE   3  (bases 1 to 1522)
  AUTHORS   Zhang,Q., Hao,S., Hui,L., Zheng,L., Wang,X., Feng,X., Liu,F.,
            Chen,X., Zhou,B., Wang,Y. and Zhang,C.
  TITLE     [Genetic analysis and prenatal diagnosis for a Chinese pedigree
            affected with co-morbid Ornithine carbamoyl transferase deficiency
            and MECP2 duplication syndrome]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 41 (3), 306-311 (2024)
   PUBMED   38448019
  REMARK    GeneRIF: [Genetic analysis and prenatal diagnosis for a Chinese
            pedigree affected with co-morbid Ornithine carbamoyl transferase
            deficiency and MECP2 duplication syndrome].
REFERENCE   4  (bases 1 to 1522)
  AUTHORS   Tsykunova,G., Kristensen,E., Stray-Pedersen,A., Bruserud,O.,
            Sorensen,I.W., Bruserud,O. and Tvedt,T.H.A.
  TITLE     Adult presentation of ornithine transcarbamylase deficiency: a
            possible cause of hyperammonemia after high-dose chemotherapy and
            stem cell transplantation
  JOURNAL   Hematology 28 (1), 2265187 (2023)
   PUBMED   38078487
  REMARK    GeneRIF: Adult presentation of ornithine transcarbamylase
            deficiency: a possible cause of hyperammonemia after high-dose
            chemotherapy and stem cell transplantation.
REFERENCE   5  (bases 1 to 1522)
  AUTHORS   Lichter-Konecki,U., Caldovic,L., Morizono,H., Simpson,K., Ah Mew,N.
            and MacLeod,E.
  TITLE     Ornithine Transcarbamylase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24006547
REFERENCE   6  (bases 1 to 1522)
  AUTHORS   Ah Mew,N., Simpson,K.L., Gropman,A.L., Lanpher,B.C., Chapman,K.A.
            and Summar,M.L.
  TITLE     Urea Cycle Disorders Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301396
REFERENCE   7  (bases 1 to 1522)
  AUTHORS   Tuchman,M., Holzknecht,R.A., Gueron,A.B., Berry,S.A. and Tsai,M.Y.
  TITLE     Six new mutations in the ornithine transcarbamylase gene detected
            by single-strand conformational polymorphism
  JOURNAL   Pediatr Res 32 (5), 600-604 (1992)
   PUBMED   1480464
REFERENCE   8  (bases 1 to 1522)
  AUTHORS   Feldmann,D., Rozet,J.M., Pelet,A., Hentzen,D., Briand,P.,
            Hubert,P., Largilliere,C., Rabier,D., Farriaux,J.P. and Munnich,A.
  TITLE     Site specific screening for point mutations in ornithine
            transcarbamylase deficiency
  JOURNAL   J Med Genet 29 (7), 471-475 (1992)
   PUBMED   1353535
REFERENCE   9  (bases 1 to 1522)
  AUTHORS   Suess,P.J., Tsai,M.Y., Holzknecht,R.A., Horowitz,M. and Tuchman,M.
  TITLE     Screening for gene deletions and known mutations in 13 patients
            with ornithine transcarbamylase deficiency
  JOURNAL   Biochem Med Metab Biol 47 (3), 250-259 (1992)
   PUBMED   1627356
REFERENCE   10 (bases 1 to 1522)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292757.1 and AI247721.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000531.5.
            
            Summary: This nuclear gene encodes a mitochondrial matrix enzyme.
            The encoded protein is involved in the urea cycle which functions
            to detoxify ammonia into urea for excretion. Mutations in this
            enzyme lead to ornithine transcarbamylase deficiency, which causes
            hyperammonemia. [provided by RefSeq, May 2022].
            
            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 :: SRR5189664.144333.1,
                                           SRR5189664.63751.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000039007.5/
                                                  ENSP00000039007.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1312              AK292757.1         77-1388
            1313-1522           AI247721.1         8-217               c
FEATURES             Location/Qualifiers
     source          1..1522
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.4"
     gene            1..1522
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="ornithine transcarbamylase"
                     /db_xref="GeneID:5009"
                     /db_xref="HGNC:HGNC:8512"
                     /db_xref="MIM:300461"
     exon            1..170
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /inference="alignment:Splign:2.1.0"
     CDS             94..1158
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /EC_number="2.1.3.3"
                     /note="ornithine carbamoyltransferase, mitochondrial;
                     ornithine transcarbamylase, mitochondrial"
                     /codon_start=1
                     /product="ornithine transcarbamylase, mitochondrial
                     precursor"
                     /protein_id="NP_000522.3"
                     /db_xref="CCDS:CCDS14247.1"
                     /db_xref="GeneID:5009"
                     /db_xref="HGNC:HGNC:8512"
                     /db_xref="MIM:300461"
                     /translation="MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLT
                     LKNFTGEEIKYMLWLSADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETGFA
                     LLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPII
                     NGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAA
                     TPKGYEPDASVTKLAEQYAKENGTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKK
                     RLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTI
                     MAVMVSLLTDYSPQLQKPKF"
     exon            171..309
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /inference="alignment:Splign:2.1.0"
     exon            310..391
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /inference="alignment:Splign:2.1.0"
     exon            392..479
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /inference="alignment:Splign:2.1.0"
     exon            480..633
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /inference="alignment:Splign:2.1.0"
     exon            634..756
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /inference="alignment:Splign:2.1.0"
     exon            757..810
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /inference="alignment:Splign:2.1.0"
     exon            811..960
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1098
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1522
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1244..1249
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="hexamer: AATAAA"
     regulatory      1248..1253
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="hexamer: AACAAA"
     polyA_site      1267
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="major polyA site"
     polyA_site      1282
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
     regulatory      1501..1506
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="hexamer: AATAAA"
     polyA_site      1522
                     /gene="OTC"
                     /gene_synonym="OCTD; OTC1; OTCase; OTCD"
                     /note="major polyA site"
ORIGIN      
        1 aacacatttc ttagttttta ggtggccccc gctggctaac ttgctgtgga gttttcaagg
       61 gcatagaatc gtcctttaca caattaaaag aagatgctgt ttaatctgag gatcctgtta
      121 aacaatgcag cttttagaaa tggtcacaac ttcatggttc gaaattttcg gtgtggacaa
      181 ccactacaaa ataaagtgca gctgaagggc cgtgaccttc tcactctaaa aaactttacc
      241 ggagaagaaa ttaaatatat gctatggcta tcagcagatc tgaaatttag gataaaacag
      301 aaaggagagt atttgccttt attgcaaggg aagtccttag gcatgatttt tgagaaaaga
      361 agtactcgaa caagattgtc tacagaaaca ggctttgcac ttctgggagg acatccttgt
      421 tttcttacca cacaagatat tcatttgggt gtgaatgaaa gtctcacgga cacggcccgt
      481 gtattgtcta gcatggcaga tgcagtattg gctcgagtgt ataaacaatc agatttggac
      541 accctggcta aagaagcatc catcccaatt atcaatgggc tgtcagattt gtaccatcct
      601 atccagatcc tggctgatta cctcacgctc caggaacact atagctctct gaaaggtctt
      661 accctcagct ggatcgggga tgggaacaat atcctgcact ccatcatgat gagcgcagcg
      721 aaattcggaa tgcaccttca ggcagctact ccaaagggtt atgagccgga tgctagtgta
      781 accaagttgg cagagcagta tgccaaagag aatggtacca agctgttgct gacaaatgat
      841 ccattggaag cagcgcatgg aggcaatgta ttaattacag acacttggat aagcatggga
      901 caagaagagg agaagaaaaa gcggctccag gctttccaag gttaccaggt tacaatgaag
      961 actgctaaag ttgctgcctc tgactggaca tttttacact gcttgcccag aaagccagaa
     1021 gaagtggatg atgaagtctt ttattctcct cgatcactag tgttcccaga ggcagaaaac
     1081 agaaagtgga caatcatggc tgtcatggtg tccctgctga cagattactc acctcagctc
     1141 cagaagccta aattttgatg ttgtgttact tgtcaagaaa gaagcaatgt tcttcagtaa
     1201 cagaatgagt tggtttatgg ggaaaagaga agagaatcta aaaaataaac aaatccctaa
     1261 cacgtggtat gggtgaaccg tatgatatgc tttgccattg tgaaactttc cttaagcctt
     1321 taatttaagt gctgatgcac tgtaatacgt gcttaacttt gcttaaactc tctaattccc
     1381 aatttctgag ttacatttag atatcatatt aattatcata tacatttact tcaacataaa
     1441 atactgtgtt cataatgtat aatgtctaag ccattaagtg taatctatgc ttattaccta
     1501 aataaattat cacccatgct aa
//
