Sequence of OTC_HUMAN
EC Number:2.1.3.3
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
carbamoyl phosphate + L-ornithine = phosphate + L-citrulline
Other sequences found for EC No. 2.1.3.3
General information:
Sequence
0 MLFNLRILLN NAAFRNGHNF MVRNFRCGQP LQNKVQLKGR DLLTLKNFTG EEIKYMLWLS
60 ADLKFRIKQK GEYLPLLQGK SLGMIFEKRS TRTRLSTETG FALLGGHPCF LTTQDIHLGV
120 NESLTDTARV LSSMADAVLA RVYKQSDLDT LAKEASIPII NGLSDLYHPI QILADYLTLQ
180 EHYSSLKGLT LSWIGDGNNI LHSIMMSAAK FGMHLQAATP KGYEPDASVT KLAEQYAKEN
240 GTKLLLTNDP LEAAHGGNVL ITDTWISMGQ EEEKKKRLQA FQGYQVTMKT AKVAASDWTF
300 LHCLPRKPEE VDDEVFYSPR SLVFPEAENR KWTIMAVMVS LLTDYSPQLQ KPKF
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
200215
Horwich A.L.,Fenton W.A.,Williams K.R.,Kalousek F.,Kraus J.P.,Doolittle R.F.,Konigsberg W.,Rosenberg L.E.
Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.
Science
224
1068-1074
1984
200216
Hata A.,Tsuzuki T.,Shimada K.,Takiguchi M.,Mori M.,Matsuda I.
Structure of the human ornithine transcarbamylase gene.
J. Biochem.
103
302-308
1988
200217
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
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2004
200218
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The DNA sequence of the human X chromosome.
Nature
434
325-337
2005
200220
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
200221
Horwich A.L.,Kalousek F.,Rosenberg L.E.
Arginine in the leader peptide is required for both import and proteolytic cleavage of a mitochondrial precursor.
Proc. Natl. Acad. Sci. U.S.A.
82
4930-4933
1985
200222
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.
100
717-725
1986
200223
Gilbert-Dussardier B.,Rabier D.,Strautnieks S.,Segues B.,Bonnefont J.-P.,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.
3
831-832
1994
200224
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
200225
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.
93
129-134
1994
200226
Yu W.,Lin Y.,Yao J.,Huang W.,Lei Q.,Xiong Y.,Zhao S.,Guan K.L.
Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals.
J. Biol. Chem.
284
13669-13675
2009
200227
Shi D.,Morizono H.,Ha Y.,Aoyagi M.,Tuchman M.,Allewell N.M.
1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency.
J. Biol. Chem.
273
34247-34254
1998
200228
Shi D.,Morizono H.,Aoyagi M.,Tuchman M.,Allewell N.M.
Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L-norvaline at 1.9 A resolution.
Proteins
39
271-277
2000
200229
Tuchman M.
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Hum. Mutat.
2
174-178
1993
200230
Tuchman M.,Plante R.J.
Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum.
Hum. Mutat.
5
293-295
1995
200231
Tuchman M.,Morizono H.,Reish O.,Yuan X.,Allewell N.M.
The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.
J. Med. Genet.
32
680-688
1995
200232
Maddalena A.,Spence J.E.,O'Brien W.E.,Nussbaum R.L.
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
J. Clin. Invest.
82
1353-1358
1988
200233
Lee J.T.,Nussbaum R.L.
An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.
J. Clin. Invest.
84
1762-1766
1989
200234
Grompe M.,Muzny D.M.,Caskey C.T.
Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.
Proc. Natl. Acad. Sci. U.S.A.
86
5888-5892
1989
200235
Finkelstein J.E.,Francomano C.A.,Brusilow S.W.,Traystman M.D.
Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.
Genomics
7
167-172
1990
200236
Grompe M.,Caskey C.T.,Fenwick R.G. Jr.
Improved molecular diagnostics for ornithine transcarbamylase deficiency.
Am. J. Hum. Genet.
48
212-222
1991
200237
Hentzen D.,Pelet A.,Feldman D.,Rabier D.,Berthelot J.,Munnich A.
Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.
Hum. Genet.
88
153-156
1991
200238
Tuchman M.,Holzknecht R.A.,Gueron A.B.,Berry S.A.,Tsai M.Y.
Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.
Pediatr. Res.
32
600-604
1992
200239
Tsai M.Y.,Holzknecht R.A.,Tuchman M.
Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency.
Hum. Genet.
91
321-325
1993
200240
Tuchman M.,Plante R.J.,Giguere Y.,Lemieux B.
The ornithine transcarbamylase gene: new 'private' mutations in four patients and study of a polymorphism.
Hum. Mutat.
3
318-320
1994
200241
Matsuura T.,Hoshide R.,Kiwaki K.,Komaki S.,Koike E.,Endo F.,Oyanagi K.,Suzuki Y.,Kato I.,Ishikawa K.,Yoda H.,Kamitani S.,Sakaki Y.,Matsuda I.
Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
Hum. Mutat.
3
402-406
1994
200242
Tuchman M.,Plante R.J.,McCann M.T.,Qureshi A.A.
Seven new mutations in the human ornithine transcarbamylase gene.
Hum. Mutat.
4
57-60
1994
200243
Garcia-Perez M.A.,Sanjurjo P.,Briones P.,Garcia-Munoz M.J.,Rubio V.
A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency.
Hum. Genet.
96
549-551
1995
200244
Zimmer K.P.,Matsuura T.,Colombo J.-P.,Koch H.G.,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.
18
356-357
1995
200245
Gilbert-Dussardier B.,Segues B.,Rozet J.-M.,Rabier D.,Calvas P.,de Lumley L.,Bonnefont J.-P.,Munnich A.
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
Hum. Mutat.
8
74-76
1996
200247
Leibundgut E.O.,Wermuth B.,Colombo J.-P.,Liechti-Gallati S.
Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.
Hum. Mutat.
8
333-339
1996
200248
Segues B.,Saugier Veber P.,Rabier D.,Calvas P.,Saudubray J.-M.,Gilbert-Dussardier B.,Bonnefont J.-P.,Munnich A.
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
Hum. Mutat.
8
373-374
1996
200249
Yoo H.-W.,Kim G.-H.,Lee D.-H.
Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
J. Inherit. Metab. Dis.
19
31-42
1996
200250
Matsuda I.,Tanase S.
The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.
Am. J. Med. Genet.
71
378-383
1997
200251
Morizono H.,Tuchman M.,Rajagopal B.S.,McCann M.T.,Listrom C.D.,Yuan X.,Venugopal D.,Barany G.,Allewell N.M.
Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia.
Biochem. J.
322
625-631
1997
200252
Oppliger Leibundgut E.,Liechti-Gallati S.,Colombo J.-P.,Wermuth B.
Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.
Hum. Mutat.
9
409-411
1997
200253
Tuchman M.,Morizono H.,Rajagopal B.S.,Plante R.J.,Allewell N.M.
Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.
J. Inherit. Metab. Dis.
20
525-527
1997
200254
Shimadzu M.,Matsumoto H.,Matsuura T.,Kobayashi K.,Komaki S.,Kiwaki K.,Hoshide R.,Endo F.,Saheki T.,Matsuda I.
Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
Hum. Mutat. Suppl.
1
0-0
1998
200255
Calvas P.,Seques B.,Rozet J.-M.,Rabier D.,Bonnefont J.-P.,Munnich A.
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
Hum. Mutat. Suppl.
1
0-0
1998
200256
Nishiyori A.,Yoshino M.,Tananari Y.,Matsuura T.,Hoshide R.,Matsuda I.,Mori M.,Kato H.
Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.
Hum. Mutat. Suppl.
1
0-0
1998
200258
Climent C.,Garcia-Perez M.A.,Sanjurjo P.,Ruiz-Sanz J.-I.,Vilaseca M.A.,Pineda M.,Campistol J.,Rubio V.
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
Hum. Mutat.
14
352-353
1999
200259
Popowska E.,Ciara E.,Rokicki D.,Pronicka E.
Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients.
J. Inherit. Metab. Dis.
22
92-93
1999
200260
Giorgi M.,Morrone A.,Donati M.A.,Ciani F.,Bardelli T.,Biasucci G.,Zammarchi E.
Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations.
Hum. Mutat.
15
380-381
2000
200261
Climent C.,Rubio V.
Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.
Hum. Mutat.
19
185-186
2002
200262
Sjoeblom T.,Jones S.,Wood L.D.,Parsons D.W.,Lin J.,Barber T.D.,Mandelker D.,Leary R.J.,Ptak J.,Silliman N.,Szabo S.,Buckhaults P.,Farrell C.,Meeh P.,Markowitz S.D.,Willis J.,Dawson D.,Willson J.K.V.,Gazdar A.F.,Hartigan J.,Wu L.,Liu C.,Parmigiani G.,Park B.H.,Bachman K.E.,Papadopoulos N.,Vogelstein B.,Kinzler K.W.,Velculescu V.E.
The consensus coding sequences of human breast and colorectal cancers.
Science
314
268-274
2006
