ID OTC_MOUSE STANDARD; PRT; 354 AA. AC P11725; DT 01-OCT-1989 (Rel. 12, Created) DT 01-OCT-1989 (Rel. 12, Last sequence update) DT 10-MAY-2005 (Rel. 47, Last annotation update) DE Ornithine carbamoyltransferase, mitochondrial precursor (EC 2.1.3.3) DE (OTCase) (Ornithine transcarbamylase). GN Name=Otc; OS Mus musculus (Mouse). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; OC Muroidea; Muridae; Murinae; Mus. OX NCBI_TaxID=10090; RN [1] RP NUCLEOTIDE SEQUENCE, AND VARIANT ASN-117. RC STRAIN=C57BL/6J; RX MEDLINE=87263407; PubMed=3603027; RA Veres G., Gibbs R.A., Scherer S.E., Caskey C.T.; RT "The molecular basis of the sparse fur mouse mutation."; RL Science 237:415-417(1987). RN [2] RP NUCLEOTIDE SEQUENCE. RX MEDLINE=88157717; PubMed=2831503; RA Scherer S.E., Veres G., Caskey C.T.; RT "The genetic structure of mouse ornithine transcarbamylase."; RL Nucleic Acids Res. 16:1593-1601(1988). RN [3] RP NUCLEOTIDE SEQUENCE OF 1-26. RC STRAIN=C57BL/6J; RX MEDLINE=86224037; PubMed=3011788; RA Veres G., Craigen W.J., Caskey C.T.; RT "The 5' flanking region of the ornithine transcarbamylase gene RT contains DNA sequences regulating tissue-specific expression."; RL J. Biol. Chem. 261:7588-7591(1986). CC -!- CATALYTIC ACTIVITY: Carbamoyl phosphate + L-ornithine = phosphate CC + L-citrulline. CC -!- PATHWAY: Second step in urea cycle, arginine biosynthesis. CC -!- SUBUNIT: Homotrimer. CC -!- SUBCELLULAR LOCATION: Mitochondrial matrix. CC -!- DISEASE: Defects in Otc are the cause of the Sparse fur (spf) CC phenotype. Spf mouse have an OTCase with an overall decrease in CC activity, and altered substrate affinity. CC -!- SIMILARITY: Belongs to the ATCase/OTCase family. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; M17030; AAA39865.1; -; mRNA. DR EMBL; M12716; AAA39864.1; ALT_SEQ; Genomic_DNA. DR EMBL; X07092; CAA30121.1; -; Genomic_DNA. DR EMBL; X07093; CAA30121.1; JOINED; Genomic_DNA. DR EMBL; X07094; CAA30121.1; JOINED; Genomic_DNA. DR EMBL; X07095; CAA30121.1; JOINED; Genomic_DNA. DR EMBL; X07096; CAA30121.1; JOINED; Genomic_DNA. DR EMBL; X07097; CAA30121.1; JOINED; Genomic_DNA. DR EMBL; X07098; CAA30121.1; JOINED; Genomic_DNA. DR EMBL; X07099; CAA30121.1; JOINED; Genomic_DNA. DR EMBL; X07100; CAA30121.1; JOINED; Genomic_DNA. DR PIR; A43609; OWMS. DR HSSP; P00480; 1OTH. DR SMR; P11725; 34-354. DR SWISS-2DPAGE; P11725; MOUSE. DR Ensembl; ENSMUSG00000031173; Mus musculus. DR MGI; MGI:97448; Otc. DR GO; GO:0005739; C:mitochondrion; IDA. DR InterPro; IPR006130; Asp/Orn_COtranf. DR InterPro; IPR006131; Asp_Orn_bd. DR InterPro; IPR006132; OCTace_P_bd. DR InterPro; IPR002292; Orn_carbamltrans. DR Pfam; PF00185; OTCace; 1. DR Pfam; PF02729; OTCace_N; 1. DR PIRSF; PIRSF000416; OCT_ATCase; 1. DR PRINTS; PR00100; AOTCASE. DR PRINTS; PR00102; OTCASE. DR TIGRFAMs; TIGR00658; orni_carb_tr; 1. DR PROSITE; PS00097; CARBAMOYLTRANSFERASE; 1. KW Amino-acid biosynthesis; Arginine biosynthesis; Disease mutation; KW Mitochondrion; Transferase; Transit peptide; Urea cycle. FT TRANSIT 1 32 Mitochondrion. FT CHAIN 33 354 Ornithine carbamoyltransferase. FT /FTId=PRO_0000020335. FT ACT_SITE 263 263 By similarity. FT ACT_SITE 303 303 By similarity. FT VARIANT 117 117 H -> N (in spf). FT CONFLICT 195 195 G -> R (in Ref. 2). SQ SEQUENCE 354 AA; 39765 MW; 33BBE5D1E88AA196 CRC64; MLSNLRILLN NAALRKGHTS VVRHFWCGKP VQSQVQLKGR DLLTLKNFTG EEIQYMLWLS ADLKFRIKQK GEYLPLLQGK SLGMIFEKRS TRTRLSTETG FALLGGHPSF LTTQDIHLGV NESLTDTARV LSSMTDAVLA RVYKQSDLDT LAKEASIPIV NGLSDLYHPI QILADYLTLQ EHYGSLKGLT LSWIGDGNNI LHSIMMSAAK FGMHLQAATP KGYEPDPNIV KLAEQYAKEN GTKLSMTNDP LEAARGGNVL ITDTWISMGQ EDEKKKRLQA FQGYQVTMKT AKVAASDWTF LHCLPRKPEE VDDEVFYSPR SLVFPEAENR KWTIMAVMVS LLTDYSPVLQ KPKF //