KEGG   Homo sapiens (human): 1373
Entry
1373              CDS       T01001                                 
Symbol
CPS1, CPSASE1, GATD6, PHN
Name
(RefSeq) carbamoyl-phosphate synthase 1
  KO
K01948  carbamoyl-phosphate synthase (ammonia) [EC:6.3.4.16]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00220  Arginine biosynthesis
hsa00250  Alanine, aspartate and glutamate metabolism
hsa00910  Nitrogen metabolism
hsa01100  Metabolic pathways
hsa01200  Carbon metabolism
hsa01230  Biosynthesis of amino acids
Module
hsa_M00029  Urea cycle
Network
nt06010  Urea cycle
  Element
N00593  Urea cycle
N00599  Obligate allosteric activation of CPS1 by NAG
N00600  NAGS deficiency in urea cycle
Disease
H00164  Carbamoyl phosphate synthetase I deficiency
H01398  Primary hyperammonemia (Urea cycle disorders)
Drug target
Carglumic acid: D07130<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00910 Nitrogen metabolism
    1373 (CPS1)
  09105 Amino acid metabolism
   00250 Alanine, aspartate and glutamate metabolism
    1373 (CPS1)
   00220 Arginine biosynthesis
    1373 (CPS1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    1373 (CPS1)
Enzymes [BR:hsa01000]
 6. Ligases
  6.3  Forming carbon-nitrogen bonds
   6.3.4  Other carbon-nitrogen ligases
    6.3.4.16  carbamoyl-phosphate synthase (ammonia)
     1373 (CPS1)
Peptidases and inhibitors [BR:hsa01002]
 Cysteine peptidases
  Family C26: gamma-glutamyl hydrolase family
   1373 (CPS1)
SSDB
Motif
Pfam: CPSase_L_D2 GATase CPSase_sm_chain CPSase_L_D3 MGS ATP-grasp Dala_Dala_lig_C ATPgrasp_Ter ATP-grasp_3
Other DBs
NCBI-GeneID: 1373
NCBI-ProteinID: NP_001116105
OMIM: 608307
HGNC: 2323
Ensembl: ENSG00000021826
UniProt: P31327 Q6PEK7
Structure
Position
2:210477685..210679107
AA seq 1500 aa
MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYS
FGHPSSVAGEVVFNTGLGGYPEAITDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKY
LESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTML
GKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGA
EVHLVPWNHDFTKMEYDGILIAGGPGNPALAEPLIQNVRKILESDRKEPLFGISTGNLIT
GLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQT
NEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRV
EVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQAD
TVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVES
IMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGIC
PNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVHT
GDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLS
RSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDR
FHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDLR
KELSEPSSTRIYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGLNSESMT
EETLKRAKEIGFSDKQISKCLGLTEAQTRELRLKKNIHPWVKQIDTLAAEYPSVTNYLYV
TYNGQEHDVNFDDHGMMVLGCGPYHIGSSVEFDWCAVSSIRTLRQLGKKTVVVNCNPETV
STDFDECDKLYFEELSLERILDIYHQEACGGCIISVGGQIPNNLAVPLYKNGVKIMGTSP
LQIDRAEDRSIFSAVLDELKVAQAPWKAVNTLNEALEFAKSVDYPCLLRPSYVLSGSAMN
VVFSEDEMKKFLEEATRVSQEHPVVLTKFVEGAREVEMDAVGKDGRVISHAISEHVEDAG
VHSGDATLMLPTQTISQGAIEKVKDATRKIAKAFAISGPFNVQFLVKGNDVLVIECNLRA
SRSFPFVSKTLGVDFIDVATKVMIGENVDEKHLPTLDHPIIPADYVAIKAPMFSWPRLRD
ADPILRCEMASTGEVACFGEGIHTAFLKAMLSTGFKIPQKGILIGIQQSFRPRFLGVAEQ
LHNEGFKLFATEATSDWLNANNVPATPVAWPSQEGQNPSLSSIRKLIRDGSIDLVINLPN
NNTKFVHDNYVIRRTAVDSGIPLLTNFQVTKLFAEAVQKSRKVDSKSLFHYRQYSAGKAA
NT seq 4503 nt   +upstreamnt  +downstreamnt
atgacgaggattttgacagctttcaaagtggtgaggacactgaagactggttttggcttt
accaatgtgactgcacaccaaaaatggaaattttcaagacctggcatcaggctcctttct
gtcaaggcacagacagcacacattgtcctggaagatggaactaagatgaaaggttactcc
tttggccatccatcctctgttgctggtgaagtggtttttaatactggcctgggagggtac
ccagaagctattactgaccctgcctacaaaggacagattctcacaatggccaaccctatt
attgggaatggtggagctcctgatactactgctctggatgaactgggacttagcaaatat
ttggagtctaatggaatcaaggtttcaggtttgctggtgctggattatagtaaagactac
aaccactggctggctaccaagagtttagggcaatggctacaggaagaaaaggttcctgca
atttatggagtggacacaagaatgctgactaaaataattcgggataagggtaccatgctt
gggaagattgaatttgaaggtcagcctgtggattttgtggatccaaataaacagaatttg
attgctgaggtttcaaccaaggatgtcaaagtgtacggcaaaggaaaccccacaaaagtg
gtagctgtagactgtgggattaaaaacaatgtaatccgcctgctagtaaagcgaggagct
gaagtgcacttagttccctggaaccatgatttcaccaagatggagtatgatgggattttg
atcgcgggaggaccggggaacccagctcttgcagaaccactaattcagaatgtcagaaag
attttggagagtgatcgcaaggagccattgtttggaatcagtacaggaaacttaataaca
ggattggctgctggtgccaaaacctacaagatgtccatggccaacagagggcagaatcag
cctgttttgaatatcacaaacaaacaggctttcattactgctcagaatcatggctatgcc
ttggacaacaccctccctgctggctggaaaccactttttgtgaatgtcaacgatcaaaca
aatgaggggattatgcatgagagcaaacccttcttcgctgtgcagttccacccagaggtc
accccggggccaatagacactgagtacctgtttgattcctttttctcactgataaagaaa
ggaaaagctaccaccattacatcagtcttaccgaagccagcactagttgcatctcgggtt
gaggtttccaaagtccttattctaggatcaggaggtctgtccattggtcaggctggagaa
tttgattactcaggatctcaagctgtaaaagccatgaaggaagaaaatgtcaaaactgtt
ctgatgaacccaaacattgcatcagtccagaccaatgaggtgggcttaaagcaagcggat
actgtctactttcttcccatcacccctcagtttgtcacagaggtcatcaaggcagaacag
ccagatgggttaattctgggcatgggtggccagacagctctgaactgtggagtggaacta
ttcaagagaggtgtgctcaaggaatatggtgtgaaagtcctgggaacttcagttgagtcc
attatggctacggaagacaggcagctgttttcagataaactaaatgagatcaatgaaaag
attgctccaagttttgcagtggaatcgattgaggatgcactgaaggcagcagacaccatt
ggctacccagtgatgatccgttccgcctatgcactgggtgggttaggctcaggcatctgt
cccaacagagagactttgatggacctcagcacaaaggcctttgctatgaccaaccaaatt
ctggtggagaagtcagtgacaggttggaaagaaatagaatatgaagtggttcgagatgct
gatgacaattgtgtcactgtctgtaacatggaaaatgttgatgccatgggtgttcacaca
ggtgactcagttgttgtggctcctgcccagacactctccaatgccgagtttcagatgttg
agacgtacttcaatcaatgttgttcgccacttgggcattgtgggtgaatgcaacattcag
tttgcccttcatcctacctcaatggaatactgcatcattgaagtgaatgccagactgtcc
cgaagctctgctctggcctcaaaagccactggctacccattggcattcattgctgcaaag
attgccctaggaatcccacttccagaaattaagaacgtcgtatccgggaagacatcagcc
tgttttgaacctagcctggattacatggtcaccaagattccccgctgggatcttgaccgt
tttcatggaacatctagccgaattggtagctctatgaaaagtgtaggagaggtcatggct
attggtcgtacctttgaggagagtttccagaaagctttacggatgtgccacccatctata
gaaggtttcactccccgtctcccaatgaacaaagaatggccatctaatttagatcttaga
aaagagttgtctgaaccaagcagcacgcgtatctatgccattgccaaggccattgatgac
aacatgtcccttgatgagattgagaagctcacatacattgacaagtggtttttgtataag
atgcgtgatattttaaacatggaaaagacactgaaaggcctcaacagtgagtccatgaca
gaagaaaccctgaaaagggcaaaggagattgggttctcagataagcagatttcaaaatgc
cttgggctcactgaggcccagacaagggagctgaggttaaagaaaaacatccacccttgg
gttaaacagattgatacactggctgcagaatacccatcagtaacaaactatctctatgtt
acctacaatggtcaggagcatgatgtcaattttgatgaccatggaatgatggtgctaggc
tgtggtccatatcacattggcagcagtgtggaatttgattggtgtgctgtctctagtatc
cgcacactgcgtcaacttggcaagaagacggtggtggtgaattgcaatcctgagactgtg
agcacagactttgatgagtgtgacaaactgtactttgaagagttgtccttggagagaatc
ctagacatctaccatcaggaggcatgtggtggctgcatcatatcagttggaggccagatt
ccaaacaacctggcagttcctctatacaagaatggtgtcaagatcatgggcacaagcccc
ctgcagatcgacagggctgaggatcgctccatcttctcagctgtcttggatgagctgaag
gtggctcaggcaccttggaaagctgttaatactttgaatgaagcactggaatttgcaaag
tctgtggactacccctgcttgttgaggccttcctatgttttgagtgggtctgctatgaat
gtggtattctctgaggatgagatgaaaaaattcctagaagaggcgactagagtttctcag
gagcacccagtggtgctgacaaaatttgttgaaggggcccgagaagtagaaatggacgct
gttggcaaagatggaagggttatctctcatgccatctctgaacatgttgaagatgcaggt
gtccactcgggagatgccactctgatgctgcccacacaaaccatcagccaaggggccatt
gaaaaggtgaaggatgctacccggaagattgcaaaggcttttgccatctctggtccattc
aacgtccaatttcttgtcaaaggaaatgatgtcttggtgattgagtgtaacttgagagct
tctcgatccttcccctttgtttccaagactcttggggttgacttcattgatgtggccacc
aaggtgatgattggagagaatgttgatgagaaacatcttccaacattggaccatcccata
attcctgctgactatgttgcaattaaggctcccatgttttcctggccccggttgagggat
gctgaccccattctgagatgtgagatggcttccactggagaggtggcttgctttggtgaa
ggtattcatacagccttcctaaaggcaatgctttccacaggatttaagataccccagaaa
ggcatcctgataggcatccagcaatcattccggccaagattccttggtgtggctgaacaa
ttacacaatgaaggtttcaagctgtttgccacggaagccacatcagactggctcaacgcc
aacaatgtccctgccaccccagtggcatggccgtctcaagaaggacagaatcccagcctc
tcttccatcagaaaattgattagagatggcagcattgacctagtgattaaccttcccaac
aacaacactaaatttgtccatgataattatgtgattcggaggacagctgttgatagtgga
atccctctcctcactaattttcaggtgaccaaactttttgctgaagctgtgcagaaatct
cgcaaggtggactccaagagtcttttccactacaggcagtacagtgctggaaaagcagca
tag

  All links  
Disease (3)   
   OMIM (3)   
Gene (17)   
   RefGene (12)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (7)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (61)   
   RefSeq(nuc) (7)   
   GenBank (27)   
   EMBL (27)   
3D Structure (14)   
   PDB (14)   
Protein domain (9)   
   Pfam (9)   
All databases (111)   

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