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NameOrnithine carbamoyltransferase, mitochondrial
Synonyms
  • 2.1.3.3
  • Ornithine transcarbamylase
  • OTCase
Gene NameOTC
OrganismHuman
Amino acid sequence
>lcl|BSEQ0010073|Ornithine carbamoyltransferase, mitochondrial
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEEIKYMLWLS
ADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGV
NESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPIINGLSDLYHPIQILADYLTLQ
EHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTF
LHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF
Number of residues354
Molecular Weight39934.775
Theoretical pI8.96
GO Classification
Functions
  • phosphate ion binding
  • amino acid binding
  • ornithine carbamoyltransferase activity
  • phospholipid binding
Processes
  • response to biotin
  • liver development
  • response to zinc ion
  • protein homotrimerization
  • urea cycle
  • ammonia homeostasis
  • arginine biosynthetic process via ornithine
  • citrulline biosynthetic process
  • response to drug
  • midgut development
  • ornithine catabolic process
  • cellular nitrogen compound metabolic process
  • small molecule metabolic process
  • polyamine metabolic process
  • response to insulin
Components
  • cytoplasm
  • mitochondrion
  • mitochondrial inner membrane
  • mitochondrial matrix
General FunctionPhospholipid binding
Specific FunctionNot Available
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein ID189407
UniProtKB IDP00480
UniProtKB Entry NameOTC_HUMAN
Cellular LocationMitochondrion matrix
Gene sequence
>lcl|BSEQ0010074|Ornithine carbamoyltransferase, mitochondrial (OTC)
ATGCTGTTTAATCTGAGGATCCTGTTAAACAATGCAGCTTTTAGAAATGGTCACAACTTC
ATGGTTCGAAATTTTCGGTGTGGACAACCACTACAAAATAAAGTGCAGCTGAAGGGCCGT
GACCTTCTCACTCTAAAAAACTTTACCGGAGAAGAAATTAAATATATGCTATGGCTATCA
GCAGATCTGAAATTTAGGATAAAACAGAAAGGAGAGTATTTGCCTTTATTGCAAGGGAAG
TCCTTAGGCATGATTTTTGAGAAAAGAAGTACTCGAACAAGATTGTCTACAGAAACAGGC
TTTGCACTTCTGGGAGGACATCCTTGTTTTCTTACCACACAAGATATTCATTTGGGTGTG
AATGAAAGTCTCACGGACACGGCCCGTGTATTGTCTAGCATGGCAGATGCAGTATTGGCT
CGAGTGTATAAACAATCAGATTTGGACACCCTGGCTAAAGAAGCATCCATCCCAATTATC
AATGGGCTGTCAGATTTGTACCATCCTATCCAGATCCTGGCTGATTACCTCACGCTCCAG
GAACACTATAGCTCTCTGAAAGGTCTTACCCTCAGCTGGATCGGGGATGGGAACAATATC
CTGCACTCCATCATGATGAGCGCAGCGAAATTCGGAATGCACCTTCAGGCAGCTACTCCA
AAGGGTTATGAGCCGGATGCTAGTGTAACCAAGTTGGCAGAGCAGTATGCCAAAGAGAAT
GGTACCAAGCTGTTGCTGACAAATGATCCATTGGAAGCAGCGCATGGAGGCAATGTATTA
ATTACAGACACTTGGATAAGCATGGGACAAGAAGAGGAGAAGAAAAAGCGGCTCCAGGCT
TTCCAAGGTTACCAGGTTACAATGAAGACTGCTAAAGTTGCTGCCTCTGACTGGACATTT
TTACACTGCTTGCCCAGAAAGCCAGAAGAAGTGGATGATGAAGTCTTTTATTCTCCTCGA
TCACTAGTGTTCCCAGAGGCAGAAAACAGAAAGTGGACAATCATGGCTGTCATGGTGTCC
CTGCTGACAGATTACTCACCTCAGCTCCAGAAGCCTAAATTTTGA
GenBank Gene IDK02100
GeneCard IDNot Available
GenAtlas IDOTC
HGNC IDHGNC:8512
Chromosome LocationX
LocusXp21.1
References
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  2. Hata A, Tsuzuki T, Shimada K, Takiguchi M, Mori M, Matsuda I: Structure of the human ornithine transcarbamylase gene. J Biochem. 1988 Feb;103(2):302-8. 2836378
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  6. Horwich AL, Kalousek F, Rosenberg LE: Arginine in the leader peptide is required for both import and proteolytic cleavage of a mitochondrial precursor. Proc Natl Acad Sci U S A. 1985 Aug;82(15):4930-3. 3895227
  7. Hata A, Tsuzuki T, Shimada K, Takiguchi M, Mori M, Matsuda I: Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region. J Biochem. 1986 Sep;100(3):717-25. 3782067
  8. Gilbert-Dussardier B, Rabier D, Strautnieks S, Segues B, Bonnefont JP, Munnich A: A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern. Hum Mol Genet. 1994 May;3(5):831-2. 8081373
  9. Matsuura T, Hoshide R, Setoyama C, Komaki S, Kiwaki K, Endo F, Nishikawa S, Matsuda I: Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes. Hum Genet. 1994 Feb;93(2):129-34. 8112735
  10. Yu W, Lin Y, Yao J, Huang W, Lei Q, Xiong Y, Zhao S, Guan KL: Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals. J Biol Chem. 2009 May 15;284(20):13669-75. doi: 10.1074/jbc.M901921200. Epub 2009 Mar 23. 19318352
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  13. Shi D, Morizono H, Aoyagi M, Tuchman M, Allewell NM: Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L-norvaline at 1.9 A resolution. Proteins. 2000 Jun 1;39(4):271-7. 10813810
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  24. Tsai MY, Holzknecht RA, Tuchman M: Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency. Hum Genet. 1993 May;91(4):321-5. 8099056
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  29. Zimmer KP, Matsuura T, Colombo JP, Koch HG, Ullrich K, Deufel T, Harms E, Matsuda I: A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency. J Inherit Metab Dis. 1995;18(3):356-7. 7474905
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  31. Oppliger Leibundgut EO, Wermuth B, Colombo JP, Liechti-Gallati S: Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms. Hum Mutat. 1996;8(4):333-9. 8956038
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  33. Yoo HW, Kim GH, Lee DH: Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families. J Inherit Metab Dis. 1996;19(1):31-42. 8830175
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