| Nomenclature | Genomic Location |
| Symbol | Otc | Chromosome | X |
| Name | Ornithine carbamoyltransferase | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | X: 20 Mbp |
| Molecular Function |
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Carbamoyl phosphate + L-ornithine = phosphate + L-citrulline.
Molecular Function Terms:
binding
ion binding
anion binding
phosphate binding
lipid binding
phospholipid binding
catalytic activity
transferase activity
transferase activity, transferring one-carbon groups
carboxyl- or carbamoyltransferase activity
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| Human Disease Association |
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Defects in OTC are the cause of ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250].
OTCD is an X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with
no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic
coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic
aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary
arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group
(clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after
the neonatal period) has been used to differentiate severe from mild forms.
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1 ATGCTGTTGAATTTTAGGTCTCTGTTCAATGCGGGACATGCCAACAGGATCCGCAAACAT
61 CTGGTGCAATGTCTTTGTTCCAGGCATGGGCAACCTACAGAATCTCCCATTCAGCTGAAA
121 GGCCATGACCTTCTAACGTTACAAAATTATAAAGCAGAGGAAATCGAATATTTGCTTTGG
181 GCAGCATCGGATTTAAAAGAGAGAATCAAACACAAGAAGGAGCATTTGCCTTTGCTGCAA
241 GGAAAATCCTTAGCAATGATTTTTGAAAAAAGAAGCACAAGGACTAGAATATCTACAGAG
301 ACAGGATTTGCTCTCCTTGGAGGTCATCCCTGTTTCCTCACACTGCAAGACATTCACCTG
361 GGCATTAATGAGAGCATCATGGACACAGCACGAGTATTGTCAACCATGACAGATGCAATC
421 CTAGCACGAGTCTATAAACAGGGTGATCTAGAGATGTTGGCACAAGAGGCCACAATCCCC
481 GTGATAAATGGACTGTCAGATTTTGACCATCCTATCCAGATTTTGGCTGATTACCTTACA
541 CTTCAGGAACACTACGGATCTTTGAAAGGTTTGACACTCAGCTGGATAGGTGATGGAAAT
601 AATGTTCTGAATTCTATTATGCTGAGTGCTGCTAAATTTGGGATGGATCTGCACATTGCT
661 ACTCCAAAAGGCTTTGAGCCAGATCCCATGGTGATTCAAATAGCAGAAGATTATTCCAGA
721 AAGTACTGCACCAAACTGTTTCTCACCACTAATCCTCTTGAAGCTGCCAATGGAGCTAAT
781 GTTTTGATCACAGACACATGGATAAGCATGGGGCAAGAAGAAGAAAAACAAAAGAGGCTG
841 AAAGCTTTCCAGGGTTACCAGATCACAATGGAGACTTGTAAAGTGGCTGCTCCCGATTGG
901 ACATTTTTACACTGTTTACCCAGAAAGCCAGAAGAAGTTGATGATGAAGTATTTTATTCT
961 CCACAATCACTGGTTTTTCAAGAGGCTGAAAACAGGAAATGGACAATTACGGCTGTCATG
1021 GCTTCTCTGCTGACAGATTATTCACCACAGCTGCAAAAGCCTACATTTTGA
| Predicted Protein Product |
MLLNFRSLFNAGHANRIRKHLVQCLCSRHGQPTESPIQLKGHDLLTLQNYKAEEIEYLLW
AASDLKERIKHKKEHLPLLQGKSLAMIFEKRSTRTRISTETGFALLGGHPCFLTLQDIHL
GINESIMDTARVLSTMTDAILARVYKQGDLEMLAQEATIPVINGLSDFDHPIQILADYLT
LQEHYGSLKGLTLSWIGDGNNVLNSIMLSAAKFGMDLHIATPKGFEPDPMVIQIAEDYSR
KYCTKLFLTTNPLEAANGANVLITDTWISMGQEEEKQKRLKAFQGYQITMETCKVAAPDW
TFLHCLPRKPEEVDDEVFYSPQSLVFQEAENRKWTITAVMASLLTDYSPQLQKPTF
| Protein Alignment to Mouse |
sp|P11725|OTC_MOUSE Ornithine carbamoyltransferase, mitochondrial OS=Mus
musculus GN=Otc PE=1 SV=1
MGI:97448 Otc ornithine transcarbamylase (Chr X)
Length = 354
Score = 1364 (485.2 bits), Expect = 4.2e-140, P = 4.2e-140
Identities = 264/361 (73%), Positives = 305/361 (84%)
Query: 1 MLLNFRSLFN-----AGHANRIRKHLVQCLCSRHGQPTESPIQLKGHDLLTLQNYKAEEI 55
ML N R L N GH + +R H C G+P +S +QLKG DLLTL+N+ EEI
Sbjct: 1 MLSNLRILLNNAALRKGHTSVVR-HF---WC---GKPVQSQVQLKGRDLLTLKNFTGEEI 53
Query: 56 EYLLWAASDLKERIKHKKEHLPLLQGKSLAMIFEKRSTRTRISTETGFALLGGHPCFLTL 115
+Y+LW ++DLK RIK K E+LPLLQGKSL MIFEKRSTRTR+STETGFALLGGHP FLT
Sbjct: 54 QYMLWLSADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETGFALLGGHPSFLTT 113
Query: 116 QDIHLGINESIMDTARVLSTMTDAILARVYKQGDLEMLAQEATIPVINGLSDFDHPIQIL 175
QDIHLG+NES+ DTARVLS+MTDA+LARVYKQ DL+ LA+EA+IP++NGLSD HPIQIL
Sbjct: 114 QDIHLGVNESLTDTARVLSSMTDAVLARVYKQSDLDTLAKEASIPIVNGLSDLYHPIQIL 173
Query: 176 ADYLTLQEHYGSLKGLTLSWIGDGNNVLNSIMLSAAKFGMDLHIATPKGFEPDPMVIQIA 235
ADYLTLQEHYGSLKGLTLSWIGDGNN+L+SIM+SAAKFGM L ATPKG+EPDP ++++A
Sbjct: 174 ADYLTLQEHYGSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDPNIVKLA 233
Query: 236 EDYSRKYCTKLFLTTNPLEAANGANVLITDTWISMGQEEEKQKRLKAFQGYQITMETCKV 295
E Y+++ TKL +T +PLEAA G NVLITDTWISMGQE+EK+KRL+AFQGYQ+TM+T KV
Sbjct: 234 EQYAKENGTKLSMTNDPLEAARGGNVLITDTWISMGQEDEKKKRLQAFQGYQVTMKTAKV 293
Query: 296 AAPDWTFLHCLPRKPEEVDDEVFYSPQSLVFQEAENRKWTITAVMASLLTDYSPQLQKPT 355
AA DWTFLHCLPRKPEEVDDEVFYSP+SLVF EAENRKWTI AVM SLLTDYSP LQKP
Sbjct: 294 AASDWTFLHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTIMAVMVSLLTDYSPVLQKPK 353
Query: 356 F 356
F
Sbjct: 354 F 354
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