OTC
entrez
5009
canonical
uniprot
P00480
canonical
ensembl
ENSG00000036473
resolver
ensp
ENSP00000039007
resolver
ensp
ENSP00000519059
resolver
ensp
ENSP00000579292
resolver
ensp
ENSP00000579293
resolver
ensp
ENSP00000666515
resolver
enst
ENST00000039007
resolver
enst
ENST00000713758
resolver
enst
ENST00000909233
resolver
enst
ENST00000909234
resolver
genesymbol
OTC
resolver
hgnc
HGNC:8512
resolver
uniprot
A8K9P2
resolver
uniprot
D3DWB0
resolver
uniprot
Q3KNR1
resolver
uniprot
Q6B0I1
resolver
uniprot
Q9NYJ5
resolver
uniprot_entry
OTC_HUMAN
resolver
uniprot_sec
A8K9P2
resolver
uniprot_sec
D3DWB0
resolver
uniprot_sec
Q3KNR1
resolver
uniprot_sec
Q6B0I1
resolver
uniprot_sec
Q9NYJ5
resolver
activity_regulation
ACTIVITY REGULATION: Negatively regulated by lysine acetylation. {ECO:0000269|PubMed:19318352}.
uniprot
proteins
amino_acid_sequence
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEEIKYMLWLSADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPIINGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKENGTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF
uniprot
proteins
disease_involvement
DISEASE: Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]: 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. {ECO:0000269|PubMed:10070622, ECO:0000269|PubMed:10070627, ECO:0000269|PubMed:10405441, ECO:0000269|PubMed:10502831, ECO:0000269|PubMed:10737985, ECO:0000269|PubMed:10946359, ECO:0000269|PubMed:11793483, ECO:0000269|PubMed:1353535, ECO:0000269|PubMed:1480464, ECO:0000269|PubMed:1671317, ECO:0000269|PubMed:1721894, ECO:0000269|PubMed:2347583, ECO:0000269|PubMed:2474822, ECO:0000269|PubMed:2556444, ECO:0000269|PubMed:3170748, ECO:0000269|PubMed:7474905, ECO:0000269|PubMed:7627182, ECO:0000269|PubMed:7860066, ECO:0000269|PubMed:7951259, ECO:0000269|PubMed:8019569, ECO:0000269|PubMed:8081373, ECO:0000269|PubMed:8081398, ECO:0000269|PubMed:8099056, ECO:0000269|PubMed:8112735, ECO:0000269|PubMed:8295401, ECO:0000269|PubMed:8364586, ECO:0000269|PubMed:8530002, ECO:0000269|PubMed:8544185, ECO:0000269|PubMed:8807340, ECO:0000269|PubMed:8830175, ECO:0000269|PubMed:8956038, ECO:0000269|PubMed:8956045, ECO:0000269|PubMed:9007316, ECO:0000269|PubMed:9056557, ECO:0000269|PubMed:9065786, ECO:0000269|PubMed:9143919, ECO:0000269|PubMed:9266387, ECO:0000269|PubMed:9266388, ECO:0000269|PubMed:9286441, ECO:0000269|PubMed:9427144, ECO:0000269|PubMed:9452024, ECO:0000269|PubMed:9452049, ECO:0000269|PubMed:9452065, ECO:0000269|PubMed:9686344, ECO:0000269|Ref.36, ECO:0000269|Ref.50}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.3.3
uniprot
proteins
function
FUNCTION: Catalyzes the second step of the urea cycle, the condensation of carbamoyl phosphate with L-ornithine to form L-citrulline (PubMed:2556444, PubMed:6372096, PubMed:8112735). The urea cycle ensures the detoxification of ammonia by converting it to urea for excretion (PubMed:2556444). {ECO:0000269|PubMed:2556444, ECO:0000269|PubMed:6372096, ECO:0000269|PubMed:8112735}.
uniprot
proteins
mass_dalton
39935
uniprot
proteins
mutagenesis
MUTAGEN 15; /note="R->G: Loss of cleavage of the transit peptide and loss of localization to mitochondrial matrix; when associated with G-23 and G-26."; /evidence="ECO:0000269|PubMed:6372096"; MUTAGEN 23; /note="R->G: Loss of cleavage of the transit peptide and loss of localization to mitochondrial matrix; when associated with G-15 and G-26."; /evidence="ECO:0000269|PubMed:3895227"; MUTAGEN 26; /note="R->G: Loss of cleavage of the transit peptide and loss of localization to mitochondrial matrix; when associated with G-15 and G-23."; /evidence="ECO:0000269|PubMed:3895227
uniprot
proteins
pathway_participation
PATHWAY: Nitrogen metabolism; urea cycle; L-citrulline from L-ornithine and carbamoyl phosphate: step 1/1. {ECO:0000269|PubMed:2556444}.
uniprot
proteins
post_translational_modification
PTM: Acetylation at Lys-88 negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals. {ECO:0000269|PubMed:19318352}.
uniprot
proteins
protein_family
Aspartate/ornithine carbamoyltransferase superfamily
uniprot
proteins
protein_family
OTCase family
uniprot
proteins
pubmed
10070622
uniprot
proteins
pubmed
10070627
uniprot
proteins
pubmed
10405441
uniprot
proteins
pubmed
10502831
uniprot
proteins
pubmed
10737985
uniprot
proteins
pubmed
10813810
uniprot
proteins
pubmed
10946359
uniprot
proteins
pubmed
11793483
uniprot
proteins
pubmed
1353535
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1480464
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
1671317
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
1721894
uniprot
proteins
pubmed
19318352
uniprot
proteins
pubmed
2347583
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2474822
uniprot
proteins
pubmed
2556444
uniprot
proteins
pubmed
2836378
uniprot
proteins
pubmed
3170748
uniprot
proteins
pubmed
3782067
uniprot
proteins
pubmed
3895227
uniprot
proteins
pubmed
6372096
uniprot
proteins
pubmed
7474905
uniprot
proteins
pubmed
7627182
uniprot
proteins
pubmed
7860066
uniprot
proteins
pubmed
7951259
uniprot
proteins
pubmed
8019569
uniprot
proteins
pubmed
8081373
uniprot
proteins
pubmed
8081398
uniprot
proteins
pubmed
8099056
uniprot
proteins
pubmed
8112735
uniprot
proteins
pubmed
8295401
uniprot
proteins
pubmed
8364586
uniprot
proteins
pubmed
8530002
uniprot
proteins
pubmed
8544185
uniprot
proteins
pubmed
8807340
uniprot
proteins
pubmed
8830175
uniprot
proteins
pubmed
8956038
uniprot
proteins
pubmed
8956045
uniprot
proteins
pubmed
9007316
uniprot
proteins
pubmed
9056557
uniprot
proteins
pubmed
9065786
uniprot
proteins
pubmed
9143919
uniprot
proteins
pubmed
9266387
uniprot
proteins
pubmed
9266388
uniprot
proteins
pubmed
9286441
uniprot
proteins
pubmed
9427144
uniprot
proteins
pubmed
9452024
uniprot
proteins
pubmed
9452049
uniprot
proteins
pubmed
9452065
uniprot
proteins
pubmed
9686344
uniprot
proteins
pubmed
9852088
uniprot
proteins
sequence_length
354
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:3895227}.
uniprot
proteins