KEGG   Homo sapiens (human): 5009
Entry
5009              CDS       T01001                                 

Gene name
OTC, OCTD
Definition
(RefSeq) ornithine carbamoyltransferase
  KO
K00611  ornithine carbamoyltransferase [EC:2.1.3.3]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00220  Arginine biosynthesis
hsa01100  Metabolic pathways
hsa01230  Biosynthesis of amino acids
Module
hsa_M00029  Urea cycle
hsa_M00844  Arginine biosynthesis, ornithine => arginine
Network
nt06010  Urea cycle
  Element
N00593  Urea cycle
N00594  ARG1 deficiency in urea cycle
N00595  ASL deficiency in urea cycle
N00596  ASS deficiency in urea cycle
N00597  OTC deficiency in urea cycle
Disease
H00187  Ornithine transcarbamylase deficiency
H01398  Primary hyperammonemic disorders (Urea cycle disorders)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00220 Arginine biosynthesis
    5009 (OTC)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.3  Carboxy- and carbamoyltransferases
    2.1.3.3  ornithine carbamoyltransferase
     5009 (OTC)
SSDB
Motif
Pfam: OTCace OTCace_N
Other DBs
NCBI-GeneID: 5009
NCBI-ProteinID: NP_000522
OMIM: 300461
HGNC: 8512
Ensembl: ENSG00000036473
Vega: OTTHUMG00000022727
Pharos: P00480(Tchem)
UniProt: P00480
Structure
PDB: 
1OTH 1C9Y 1EP9 1FVO

Position
Xp11.4
AA seq 354 aa
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEEIKYMLWLS
ADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGV
NESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPIINGLSDLYHPIQILADYLTLQ
EHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN
GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTF
LHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF
NT seq 1065 nt   +upstreamnt  +downstreamnt
atgctgtttaatctgaggatcctgttaaacaatgcagcttttagaaatggtcacaacttc
atggttcgaaattttcggtgtggacaaccactacaaaataaagtgcagctgaagggccgt
gaccttctcactctaaaaaactttaccggagaagaaattaaatatatgctatggctatca
gcagatctgaaatttaggataaaacagaaaggagagtatttgcctttattgcaagggaag
tccttaggcatgatttttgagaaaagaagtactcgaacaagattgtctacagaaacaggc
tttgcacttctgggaggacatccttgttttcttaccacacaagatattcatttgggtgtg
aatgaaagtctcacggacacggcccgtgtattgtctagcatggcagatgcagtattggct
cgagtgtataaacaatcagatttggacaccctggctaaagaagcatccatcccaattatc
aatgggctgtcagatttgtaccatcctatccagatcctggctgattacctcacgctccag
gaacactatagctctctgaaaggtcttaccctcagctggatcggggatgggaacaatatc
ctgcactccatcatgatgagcgcagcgaaattcggaatgcaccttcaggcagctactcca
aagggttatgagccggatgctagtgtaaccaagttggcagagcagtatgccaaagagaat
ggtaccaagctgttgctgacaaatgatccattggaagcagcgcatggaggcaatgtatta
attacagacacttggataagcatgggacaagaagaggagaagaaaaagcggctccaggct
ttccaaggttaccaggttacaatgaagactgctaaagttgctgcctctgactggacattt
ttacactgcttgcccagaaagccagaagaagtggatgatgaagtcttttattctcctcga
tcactagtgttcccagaggcagaaaacagaaagtggacaatcatggctgtcatggtgtcc
ctgctgacagattactcacctcagctccagaagcctaaattttga

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