| Entry |
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| Symbol |
CAD, CDG1Z, DEE50, EIEE50, GATD4
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| Name |
(RefSeq) carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
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| KO |
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| Organism |
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| Pathway |
| hsa00250 | Alanine, aspartate and glutamate metabolism |
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| Module |
| hsa_M00051 | De novo pyrimidine biosynthesis, glutamine (+ PRPP) => UMP |
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| Disease |
| H00606 | Early infantile epileptic encephalopathy |
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| Brite |
KEGG Orthology (KO) [BR:hsa00001]
09100 Metabolism
09104 Nucleotide metabolism
00240 Pyrimidine metabolism
790 (CAD)
09105 Amino acid metabolism
00250 Alanine, aspartate and glutamate metabolism
790 (CAD)
00220 Arginine biosynthesis
790 (CAD)
09180 Brite Hierarchies
09181 Protein families: metabolism
01002 Peptidases and inhibitors [BR:hsa01002]
790 (CAD)
Enzymes [BR:hsa01000]
2. Transferases
2.1 Transferring one-carbon groups
2.1.3 Carboxy- and carbamoyltransferases
2.1.3.2 aspartate carbamoyltransferase
790 (CAD)
3. Hydrolases
3.5 Acting on carbon-nitrogen bonds, other than peptide bonds
3.5.2 In cyclic amides
3.5.2.3 dihydroorotase
790 (CAD)
6. Ligases
6.3 Forming carbon-nitrogen bonds
6.3.5 Carbon-nitrogen ligases with glutamine as amido-N-donor
6.3.5.5 carbamoyl-phosphate synthase (glutamine-hydrolysing)
790 (CAD)
Peptidases and inhibitors [BR:hsa01002]
Cysteine peptidases
Family C26: gamma-glutamyl hydrolase family
790 (CAD)
Metallo peptidases
Family M38: beta-aspartyl dipeptidase family
790 (CAD)
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| SSDB |
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| Motif |
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| Other DBs |
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| Structure |
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| LinkDB |
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| Position |
2:27217369..27243943
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| AA seq |
2225 aa
MAALVLEDGSVLRGQPFGAAVSTAGEVVFQTGMVGYPEALTDPSYKAQILVLTYPLIGNY
GIPPDEMDEFGLCKWFESSGIHVAALVVGECCPTPSHWSATRTLHEWLQQHGIPGLQGVD
TRELTKKLREQGSLLGKLVQNGTEPSSLPFLDPNARPLVPEVSIKTPRVFNTGGAPRILA
LDCGLKYNQIRCLCQRGAEVTVVPWDHALDSQEYEGLFLSNGPGDPASYPSVVSTLSRVL
SEPNPRPVFGICLGHQLLALAIGAKTYKMRYGNRGHNQPCLLVGSGRCFLTSQNHGFAVE
TDSLPADWAPLFTNANDGSNEGIVHNSLPFFSVQFHPEHQAGPSDMELLFDIFLETVKEA
TAGNPGGQTVRERLTERLCPPGIPTPGSGLPPPRKVLILGSGGLSIGQAGEFDYSGSQAI
KALKEENIQTLLINPNIATVQTSQGLADKVYFLPITPHYVTQVIRNERPDGVLLTFGGQT
ALNCGVELTKAGVLARYGVRVLGTPVETIELTEDRRAFAARMAEIGEHVAPSEAANSLEQ
AQAAAERLGYPVLVRAAFALGGLGSGFASNREELSALVAPAFAHTSQVLVDKSLKGWKEI
EYEVVRDAYGNCVTVCNMENLDPLGIHTGESIVVAPSQTLNDREYQLLRQTAIKVTQHLG
IVGECNVQYALNPESEQYYIIEVNARLSRSSALASKATGYPLAYVAAKLALGIPLPELRN
SVTGGTAAFEPSVDYCVVKIPRWDLSKFLRVSTKIGSCMKSVGEVMGIGRSFEEAFQKAL
RMVDENCVGFDHTVKPVSDMELETPTDKRIFVVAAALWAGYSVDRLYELTRIDRWFLHRM
KRIIAHAQLLEQHRGQPLPPDLLQQAKCLGFSDKQIALAVLSTELAVRKLRQELGICPAV
KQIDTVAAEWPAQTNYLYLTYWGTTHDLTFRTPHVLVLGSGVYRIGSSVEFDWCAVGCIQ
QLRKMGYKTIMVNYNPETVSTDYDMCDRLYFDEISFEVVMDIYELENPEGVILSMGGQLP
NNMAMALHRQQCRVLGTSPEAIDSAENRFKFSRLLDTIGISQPQWRELSDLESARQFCQT
VGYPCVVRPSYVLSGAAMNVAYTDGDLERFLSSAAAVSKEHPVVISKFIQEAKEIDVDAV
ASDGVVAAIAISEHVENAGVHSGDATLVTPPQDITAKTLERIKAIVHAVGQELQVTGPFN
LQLIAKDDQLKVIECNVRVSRSFPFVSKTLGVDLVALATRVIMGEEVEPVGLMTGSGVVG
VKVPQFSFSRLAGADVVLGVEMTSTGEVAGFGESRCEAYLKAMLSTGFKIPKKNILLTIG
SYKNKSELLPTVRLLESLGYSLYASLGTADFYTEHGVKVTAVDWHFEEAVDGECPPQRSI
LEQLAEKNFELVINLSMRGAGGRRLSSFVTKGYRTRRLAADFSVPLIIDIKCTKLFVEAL
GQIGPAPPLKVHVDCMTSQKLVRLPGLIDVHVHLREPGGTHKEDFASGTAAALAGGITMV
CAMPNTRPPIIDAPALALAQKLAEAGARCDFALFLGASSENAGTLGTVAGSAAGLKLYLN
ETFSELRLDSVVQWMEHFETWPSHLPIVAHAEQQTVAAVLMVAQLTQRSVHICHVARKEE
ILLIKAAKARGLPVTCEVAPHHLFLSHDDLERLGPGKGEVRPELGSRQDVEALWENMAVI
DCFASDHAPHTLEEKCGSRPPPGFPGLETMLPLLLTAVSEGRLSLDDLLQRLHHNPRRIF
HLPPQEDTYVEVDLEHEWTIPSHMPFSKAHWTPFEGQKVKGTVRRVVLRGEVAYIDGQVL
VPPGYGQDVRKWPQGAVPQLPPSAPATSEMTTTPERPRRGIPGLPDGRFHLPPRIHRASD
PGLPAEEPKEKSSRKVAEPELMGTPDGTCYPPPPVPRQASPQNLGTPGLLHPQTSPLLHS
LVGQHILSVQQFTKDQMSHLFNVAHTLRMMVQKERSLDILKGKVMASMFYEVSTRTSSSF
AAAMARLGGAVLSFSEATSSVQKGESLADSVQTMSCYADVVVLRHPQPGAVELAAKHCRR
PVINAGDGVGEHPTQALLDIFTIREELGTVNGMTITMVGDLKHGRTVHSLACLLTQYRVS
LRYVAPPSLRMPPTVRAFVASRGTKQEEFESIEEALPDTDVLYMTRIQKERFGSTQEYEA
CFGQFILTPHIMTRAKKKMVVMHPMPRVNEISVEVDSDPRAAYFRQAENGMYIRMALLAT
VLGRF |
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| NT seq |
6678 nt +upstreamnt +downstreamnt
atggcggccctagtgttggaggacgggtcggtcctgcggggccagccctttggggccgcc
gtgtcgactgccggggaagtggtgtttcaaaccggcatggtcggctaccccgaggccctc
actgatccctcctacaaggcacagatcttagtgctcacctatcctctgatcggcaactat
ggcatccccccagatgaaatggatgagttcggtctctgcaagtggtttgaatcctcgggc
atccacgtagcagcactggtagtgggagagtgctgtcctactcccagccactggagtgcc
acccgcaccctgcatgagtggctgcagcagcatggcatccctggcttgcaaggagtagac
actcgggagctgaccaagaagttgcgggaacaggggtctctgctggggaagctggtccag
aatggaacagaaccttcatccctgccattcttggaccccaatgcccgccccctggtacca
gaggtctccattaagactccacgggtattcaatacagggggtgcccctcggatccttgct
ttggactgtggcctcaagtataatcagatccgatgcctctgccagcgtggggctgaggtc
actgtggtaccctgggaccatgcactagacagccaagagtatgagggtctcttcttaagt
aatgggcctggtgaccctgcctcctatcccagtgtcgtatccacactgagccgtgtttta
tctgagcctaatccccgacctgtctttgggatctgcctgggacaccagctattggcctta
gccattggggccaagacttacaagatgagatatgggaaccgaggccataaccagccctgc
ttgttggtgggctctgggcgctgctttctgacatcccagaaccatgggtttgctgtggag
acagactcactgccagcagactgggctcctctcttcaccaacgccaatgatggttccaat
gaaggcattgtgcacaacagcttgcctttcttcagtgtccagtttcacccagagcaccaa
gctggcccttcagatatggaactgcttttcgatatctttctggaaactgtgaaagaggcc
acagctgggaaccctgggggccagacagttagagagcggctgactgagcgcctctgtccc
cctgggattcccactcccggctctggacttccaccaccacgaaaggttctgatcctgggc
tcagggggcctctccattggccaagctggagaatttgactactcgggctctcaggcaatt
aaggccctgaaggaggaaaacatccagacgttgctgatcaaccccaatattgccacagtg
cagacctcccaggggctggccgacaaggtctattttcttcccataacacctcattatgta
acccaggtgatacgtaatgaacgccccgatggtgtgttactgacttttgggggccagact
gctctgaactgtggtgtggagctgaccaaggccggggtgctggctcggtatggggtccgg
gtcctgggcacaccagtggagaccattgagctgaccgaggatcgacgggcctttgctgcc
agaatggcagagatcggagagcatgtggccccgagcgaggcagcaaattctcttgaacag
gcccaggcagccgctgaacggctggggtaccctgtgctagtgcgtgcagcctttgccctg
ggtggcctgggctctggctttgcctctaacagggaggagctctctgctctcgtggcccca
gcttttgcccataccagccaagtgctagtagacaagtctctgaagggatggaaggagatt
gagtacgaggtggtgagagacgcctatggcaactgtgtcacggtgtgtaacatggagaac
ttggacccactgggcatccacactggtgagtccatagtggtggcccctagccagacactg
aatgacagggagtatcagctcctgaggcagacagctatcaaggtgacccagcacctggga
attgttggggagtgcaatgtgcagtatgccttgaaccctgagtctgagcagtattacatc
attgaagtgaatgccaggctctctcgcagctctgccctggccagtaaggccacaggttat
ccactggcttatgtggcagccaagctagcattgggcatccctttgcctgagctcaggaac
tctgtgacagggggtacagcagcctttgaacccagcgtggattattgtgtggtgaagatt
cctcgatgggaccttagcaagttcctgcgagtcagcacaaagattgggagctgcatgaag
agcgttggtgaagtcatgggcattgggcgttcatttgaggaggccttccagaaggccctg
cgcatggtggatgagaactgtgtgggctttgatcacacagtgaaaccagtcagcgatatg
gagttggagactccaacagataagcggatttttgtggtggcagctgctttgtgggctggt
tattcagtggaccgcctgtatgagctcacacgcatcgaccgctggttcctgcaccgaatg
aagcgtatcatcgcacatgcccagctgctagaacaacaccgtggacagcctttgccgcca
gacctgctgcaacaggccaagtgtcttggcttctcagacaaacagattgcccttgcagtt
ctgagcacagagctggctgttcgcaagctgcgtcaggaactggggatctgtccagcagtg
aaacagattgacacagttgcagctgagtggccagcccagacaaattacctatacctaacg
tattggggcaccacccatgacctcacctttcgaacacctcatgtcctagtccttggctct
ggcgtctaccgtattggctctagcgttgaatttgactggtgtgctgtaggctgcatccag
cagctccgaaagatgggatataagaccatcatggtgaactataacccagagacagtcagc
accgactatgacatgtgtgatcgactctactttgatgagatctcttttgaggtggtgatg
gacatctatgagctcgagaaccctgaaggtgtgatcctatccatgggtggacagctgccc
aacaacatggccatggcgttgcatcggcagcagtgccgggtgctgggcacctcccctgaa
gccattgactcggctgagaaccgtttcaagttttcccggctccttgacaccattggtatc
agccagcctcagtggagggagctcagtgacctcgagtctgctcgccaattctgccagacc
gtggggtacccctgtgtggtgcgcccctcctatgtgctgagcggtgctgctatgaatgtg
gcctacacggatggagacctggagcgcttcctgagcagcgcagcagccgtctccaaagag
catcccgtggtcatctccaagttcatccaggaggctaaggagattgacgtggatgccgtg
gcctctgatggtgtggtggcagccatcgccatctctgagcatgtggagaatgcaggtgtg
cattcaggtgatgcgacgctggtgacccccccacaagatatcactgccaaaaccctggag
cggatcaaagccattgtgcatgctgtgggccaggagctacaggtcacaggacccttcaat
ctgcagctcattgccaaggatgaccagctgaaagttattgaatgcaacgtacgtgtctct
cgctccttccccttcgtttccaagacactgggtgtggacctagtagccttggccacgcgg
gtcatcatgggggaagaagtggaacctgtggggctaatgactggttctggagtcgtggga
gtaaaggtgcctcagttctccttctcccgcttggcgggtgctgacgtggtgttgggtgtg
gaaatgaccagtactggggaggtggccggctttggggagagccgctgtgaggcatacctc
aaggccatgctaagcactggctttaagatccccaagaagaatatcctgctgaccattggc
agctataagaacaaaagcgagctgctcccaactgtgcggctactggagagcctgggctac
agcctctatgccagtctcggcacagctgacttctacactgagcatggcgtcaaggtaaca
gctgtggactggcactttgaggaggctgtggatggtgagtgcccaccacagcggagcatc
ctggagcagctagctgagaaaaactttgagctggtgattaacctgtcaatgcgtggagct
gggggccggcgtctctcttcctttgtcaccaagggctaccgcacccgacgcttggccgct
gacttctccgtgcccctaatcatcgatatcaagtgcaccaaactctttgtggaggcccta
ggccagatcgggccagcccctcctttgaaggtgcatgttgactgtatgacctcccaaaag
cttgtgcgactgccgggattgattgatgtccatgtgcacctgcgggaaccaggtgggaca
cataaggaggactttgcttcaggcacagccgctgccctggctgggggtatcaccatggtg
tgtgccatgcctaatacccggccccccatcattgacgcccctgctctggccctggcccag
aagctggcagaggctggcgcccggtgcgactttgcgctattccttggggcctcgtctgaa
aatgcaggaaccttgggcaccgtggccgggtctgcagccgggctgaagctttacctcaat
gagaccttctctgagctgcggctggacagcgtggtccagtggatggagcatttcgagaca
tggccctcccacctccccattgtggctcacgcagagcagcaaaccgtggctgctgtcctc
atggtggctcagctcactcagcgctcagtgcacatatgtcacgtggcacggaaggaggag
atcctgctaattaaagctgcaaaggcacggggcttgccagtgacctgcgaggtggctccc
caccacctgttcctaagccatgatgacctggagcgcctggggcctgggaagggggaggtc
cggcctgagcttggctcccgccaggatgtggaagccctgtgggagaacatggctgtcatc
gactgctttgcctcagaccatgctccccataccttggaggagaagtgtgggtccaggccc
ccacctgggttcccagggttagagaccatgctgccactactcctgacggctgtaagcgag
ggccggctcagcctggacgacctgctgcagcgattgcaccacaatcctcggcgcatcttt
cacctgcccccgcaggaggacacctatgtggaggtggatctggagcatgagtggacaatt
cccagccacatgcccttctccaaggcccactggacaccttttgaagggcagaaagtgaag
ggcaccgtccgccgtgtggtcctgcgaggggaggttgcctatatcgatgggcaggttctg
gtacccccgggctatggacaggatgtacggaagtggccacagggggctgttcctcagctc
ccaccctcagcccctgccactagtgagatgaccacgacacctgaaagaccccgccgtggc
atcccagggcttcctgatggccgcttccatctgccgccccgaatccatcgagcctccgac
ccaggtttgccagctgaggagccaaaggagaagtcctctcggaaggtagccgagccagag
ctgatgggaacccctgatggcacctgctaccctccaccaccagtaccgagacaggcatct
ccccagaacctggggacccctggcttgctgcacccccagacctcacccctgctgcactca
ttagtgggccaacatatcctgtccgtccagcagttcaccaaggatcagatgtctcacctg
ttcaatgtggcacacacactgcgtatgatggtgcagaaggagcggagcctcgacatcctg
aaggggaaggtcatggcctccatgttctatgaagtgagcacacggaccagcagctccttt
gcagcagccatggcccggctgggaggtgctgtgctcagcttctcggaagccacatcgtcc
gtccagaagggcgaatccctggctgactccgtgcagaccatgagctgctatgccgacgtc
gtcgtgctccggcacccccagcctggagcagtggagctggccgccaagcactgccggagg
ccagtgatcaatgctggggatggggtcggagagcaccccacccaggccctgctggacatc
ttcaccatccgtgaggagctgggaactgtcaatggcatgacgatcacgatggtgggtgac
ctgaagcacggacgcacagtacattccctggcctgcctgctcacccagtatcgtgtcagc
ctgcgctacgtggcacctcccagcctgcgcatgccacccactgtgcgggccttcgtggcc
tcccgcggcaccaagcaggaggaattcgagagcattgaggaggcgctgcctgacactgat
gtgctctacatgactcgaatccagaaggaacgatttggctctacccaggagtacgaagct
tgctttggtcagttcatcctcactccccacatcatgacccgggccaagaagaagatggtg
gtgatgcacccgatgccccgtgtcaacgagataagcgtggaagtggactcggatccccgc
gcagcctacttccgccaggctgagaacggcatgtacatccgcatggctctgttagccacc
gtgctgggccgtttctag |
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