Entry |
|
Symbol |
CAD, CDG1Z, DEE50, EIEE50, GATD4
|
Name |
(RefSeq) carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
|
KO |
|
Organism |
|
Pathway |
hsa00250 | Alanine, aspartate and glutamate metabolism |
|
Module |
hsa_M00051 | De novo pyrimidine biosynthesis, glutamine (+ PRPP) => UMP |
|
Disease |
H00606 | Early infantile epileptic encephalopathy |
|
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)
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 |
|
Motif |
|
Other DBs |
|
Structure |
|
Position |
2:27217369..27243943
|
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 |
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 |