Homo sapiens (human): 5009 Help Entry 5009              CDS       T01001                                  Gene name OTC, OCTD, OTCD Definition (RefSeq) ornithine transcarbamylase   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) BRITE hierarchy SSDB OrthologParalogGFIT Motif Pfam:  OTCace OTCace_N Motif Other DBs NCBI-GeneID:  5009 NCBI-ProteinID:  NP_000522 OMIM:  300461 HGNC:  8512 Ensembl:  ENSG00000036473 Vega:  OTTHUMG00000022727 Pharos:  P00480(Tchem) UniProt:  P00480 LinkDB All DBs Structure PDB:  1OTH 1C9Y 1EP9 1FVO Thumbnails Position Xp11.4 AA seq 354 aa AA seqDB search MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEEIKYMLWLS ADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGV NESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPIINGLSDLYHPIQILADYLTLQ EHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKEN GTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTF LHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF NT seq 1065 nt NT seq  +upstreamnt  +downstreamnt atgctgtttaatctgaggatcctgttaaacaatgcagcttttagaaatggtcacaacttc atggttcgaaattttcggtgtggacaaccactacaaaataaagtgcagctgaagggccgt gaccttctcactctaaaaaactttaccggagaagaaattaaatatatgctatggctatca gcagatctgaaatttaggataaaacagaaaggagagtatttgcctttattgcaagggaag tccttaggcatgatttttgagaaaagaagtactcgaacaagattgtctacagaaacaggc tttgcacttctgggaggacatccttgttttcttaccacacaagatattcatttgggtgtg aatgaaagtctcacggacacggcccgtgtattgtctagcatggcagatgcagtattggct cgagtgtataaacaatcagatttggacaccctggctaaagaagcatccatcccaattatc aatgggctgtcagatttgtaccatcctatccagatcctggctgattacctcacgctccag gaacactatagctctctgaaaggtcttaccctcagctggatcggggatgggaacaatatc ctgcactccatcatgatgagcgcagcgaaattcggaatgcaccttcaggcagctactcca aagggttatgagccggatgctagtgtaaccaagttggcagagcagtatgccaaagagaat ggtaccaagctgttgctgacaaatgatccattggaagcagcgcatggaggcaatgtatta attacagacacttggataagcatgggacaagaagaggagaagaaaaagcggctccaggct ttccaaggttaccaggttacaatgaagactgctaaagttgctgcctctgactggacattt ttacactgcttgcccagaaagccagaagaagtggatgatgaagtcttttattctcctcga tcactagtgttcccagaggcagaaaacagaaagtggacaatcatggctgtcatggtgtcc ctgctgacagattactcacctcagctccagaagcctaaattttga

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