KEGG H.sapiens: 1373

Homo sapiens (human): 1373

Entry

1373 CDS H.sapiens

Gene name CPS1

Definition carbamoyl-phosphate synthetase 1, mitochondrial (EC:6.3.4.16)

Orthology K01948 carbamoyl-phosphate synthase (ammonia) [EC:6.3.4.16]

Pathway hsa00250 Alanine, aspartate and glutamate metabolism
hsa00330 Arginine and proline metabolism
hsa00910 Nitrogen metabolism
hsa01100 Metabolic pathways

Disease H00164 Carbamoyl phosphate synthetase I deficiency

Class Metabolism; Energy Metabolism; Nitrogen metabolism [PATH:hsa00910]
Metabolism; Amino Acid Metabolism; Alanine, aspartate and glutamate
metabolism [PATH:hsa00250]
Metabolism; Amino Acid Metabolism; Arginine and proline metabolism
[PATH:hsa00330]

SSDB

Motif Pfam: CPSase_L_D2 CPSase_sm_chain CPSase_L_D3 GATase CPSase_L_chain
MGS ATP-grasp Dala_Dala_lig_C ATP-grasp_3 Peptidase_C26 RimK
MerR-DNA-bind
PROSITE: CPSASE_1 CPSASE_2 ATP_GRASP GATASE_TYPE_1

Other DBs NCBI-GI: 169790915
NCBI-GeneID: 1373
OMIM: 608307
HGNC: 2323
HPRD: 01995
Ensembl: ENSG00000021826
UniProt: P31327

Structure

PDB: 2YVQ

Position 2q35

AA seq 1506 aa
MPQIIKMTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGT
KMKGYSFGHPSSVAGEVVFNTGLGGYPEAITDPAYKGQILTMANPIIGNGGAPDTTALDE
LGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIR
DKGTMLGKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRL
LVKRGAEVHLVPWNHDFTKMEYDGILIAGGPGNPALAEPLIQNVRKILESDRKEPLFGIS
TGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFV
NVNDQTNEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPA
LVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEV
GLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVL
GTSVESIMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGG
LGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNMENVD
AMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIE
VNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIP
RWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWP
SNLDLRKELSEPSSTRIYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGL
NSESMTEETLKRAKEIGFSDKQISKCLGLTEAQTRELRLKKNIHPWVKQIDTLAAEYPSV
TNYLYVTYNGQEHDVNFDDHGMMVLGCGPYHIGSSVEFDWCAVSSIRTLRQLGKKTVVVN
CNPETVSTDFDECDKLYFEELSLERILDIYHQEACGGCIISVGGQIPNNLAVPLYKNGVK
IMGTSPLQIDRAEDRSIFSAVLDELKVAQAPWKAVNTLNEALEFAKSVDYPCLLRPSYVL
SGSAMNVVFSEDEMKKFLEEATRVSQEHPVVLTKFVEGAREVEMDAVGKDGRVISHAISE
HVEDAGVHSGDATLMLPTQTISQGAIEKVKDATRKIAKAFAISGPFNVQFLVKGNDVLVI
ECNLRASRSFPFVSKTLGVDFIDVATKVMIGENVDEKHLPTLDHPIIPADYVAIKAPMFS
WPRLRDADPILRCEMASTGEVACFGEGIHTAFLKAMLSTGFKIPQKGILIGIQQSFRPRF
LGVAEQLHNEGFKLFATEATSDWLNANNVPATPVAWPSQEGQNPSLSSIRKLIRDGSIDL
VINLPNNNTKFVHDNYVIRRTAVDSGIPLLTNFQVTKLFAEAVQKSRKVDSKSLFHYRQY
SAGKAA

NT seq 4521 nt +upstreamnt +downstreamnt
atgccacaaatcatcaaaatgacgaggattttgacagctttcaaagtggtgaggacactg
aagactggttttggctttaccaatgtgactgcacaccaaaaatggaaattttcaagacct
ggcatcaggctcctttctgtcaaggcacagacagcacacattgtcctggaagatggaact
aagatgaaaggttactcctttggccatccatcctctgttgctggtgaagtggtttttaat
actggcctgggagggtacccagaagctattactgaccctgcctacaaaggacagattctc
acaatggccaaccctattattgggaatggtggagctcctgatactactgctctggatgaa
ctgggacttagcaaatatttggagtctaatggaatcaaggtttcaggtttgctggtgctg
gattatagtaaagactacaaccactggctggctaccaagagtttagggcaatggctacag
gaagaaaaggttcctgcaatttatggagtggacacaagaatgctgactaaaataattcgg
gataagggtaccatgcttgggaagattgaatttgaaggtcagcctgtggattttgtggat
ccaaataaacagaatttgattgctgaggtttcaaccaaggatgtcaaagtgtacggcaaa
ggaaaccccacaaaagtggtagctgtagactgtgggattaaaaacaatgtaatccgcctg
ctagtaaagcgaggagctgaagtgcacttagttccctggaaccatgatttcaccaagatg
gagtatgatgggattttgatcgcgggaggaccggggaacccagctcttgcagaaccacta
attcagaatgtcagaaagattttggagagtgatcgcaaggagccattgtttggaatcagt
acaggaaacttaataacaggattggctgctggtgccaaaacctacaagatgtccatggcc
aacagagggcagaatcagcctgttttgaatatcacaaacaaacaggctttcattactgct
cagaatcatggctatgccttggacaacaccctccctgctggctggaaaccactttttgtg
aatgtcaacgatcaaacaaatgaggggattatgcatgagagcaaacccttcttcgctgtg
cagttccacccagaggtcaccccggggccaatagacactgagtacctgtttgattccttt
ttctcactgataaagaaaggaaaagctaccaccattacatcagtcttaccgaagccagca
ctagttgcatctcgggttgaggtttccaaagtccttattctaggatcaggaggtctgtcc
attggtcaggctggagaatttgattactcaggatctcaagctgtaaaagccatgaaggaa
gaaaatgtcaaaactgttctgatgaacccaaacattgcatcagtccagaccaatgaggtg
ggcttaaagcaagcggatactgtctactttcttcccatcacccctcagtttgtcacagag
gtcatcaaggcagaacagccagatgggttaattctgggcatgggtggccagacagctctg
aactgtggagtggaactattcaagagaggtgtgctcaaggaatatggtgtgaaagtcctg
ggaacttcagttgagtccattatggctacggaagacaggcagctgttttcagataaacta
aatgagatcaatgaaaagattgctccaagttttgcagtggaatcgattgaggatgcactg
aaggcagcagacaccattggctacccagtgatgatccgttccgcctatgcactgggtggg
ttaggctcaggcatctgtcccaacagagagactttgatggacctcagcacaaaggccttt
gctatgaccaaccaaattctggtggagaagtcagtgacaggttggaaagaaatagaatat
gaagtggttcgagatgctgatgacaattgtgtcactgtctgtaacatggaaaatgttgat
gccatgggtgttcacacaggtgactcagttgttgtggctcctgcccagacactctccaat
gccgagtttcagatgttgagacgtacttcaatcaatgttgttcgccacttgggcattgtg
ggtgaatgcaacattcagtttgcccttcatcctacctcaatggaatactgcatcattgaa
gtgaatgccagactgtcccgaagctctgctctggcctcaaaagccactggctacccattg
gcattcattgctgcaaagattgccctaggaatcccacttccagaaattaagaacgtcgta
tccgggaagacatcagcctgttttgaacctagcctggattacatggtcaccaagattccc
cgctgggatcttgaccgttttcatggaacatctagccgaattggtagctctatgaaaagt
gtaggagaggtcatggctattggtcgtacctttgaggagagtttccagaaagctttacgg
atgtgccacccatctatagaaggtttcactccccgtctcccaatgaacaaagaatggcca
tctaatttagatcttagaaaagagttgtctgaaccaagcagcacgcgtatctatgccatt
gccaaggccattgatgacaacatgtcccttgatgagattgagaagctcacatacattgac
aagtggtttttgtataagatgcgtgatattttaaacatggaaaagacactgaaaggcctc
aacagtgagtccatgacagaagaaaccctgaaaagggcaaaggagattgggttctcagat
aagcagatttcaaaatgccttgggctcactgaggcccagacaagggagctgaggttaaag
aaaaacatccacccttgggttaaacagattgatacactggctgcagaatacccatcagta
acaaactatctctatgttacctacaatggtcaggagcatgatgtcaattttgatgaccat
ggaatgatggtgctaggctgtggtccatatcacattggcagcagtgtggaatttgattgg
tgtgctgtctctagtatccgcacactgcgtcaacttggcaagaagacggtggtggtgaat
tgcaatcctgagactgtgagcacagactttgatgagtgtgacaaactgtactttgaagag
ttgtccttggagagaatcctagacatctaccatcaggaggcatgtggtggctgcatcata
tcagttggaggccagattccaaacaacctggcagttcctctatacaagaatggtgtcaag
atcatgggcacaagccccctgcagatcgacagggctgaggatcgctccatcttctcagct
gtcttggatgagctgaaggtggctcaggcaccttggaaagctgttaatactttgaatgaa
gcactggaatttgcaaagtctgtggactacccctgcttgttgaggccttcctatgttttg
agtgggtctgctatgaatgtggtattctctgaggatgagatgaaaaaattcctagaagag
gcgactagagtttctcaggagcacccagtggtgctgacaaaatttgttgaaggggcccga
gaagtagaaatggacgctgttggcaaagatggaagggttatctctcatgccatctctgaa
catgttgaagatgcaggtgtccactcgggagatgccactctgatgctgcccacacaaacc
atcagccaaggggccattgaaaaggtgaaggatgctacccggaagattgcaaaggctttt
gccatctctggtccattcaacgtccaatttcttgtcaaaggaaatgatgtcttggtgatt
gagtgtaacttgagagcttctcgatccttcccctttgtttccaagactcttggggttgac
ttcattgatgtggccaccaaggtgatgattggagagaatgttgatgagaaacatcttcca
acattggaccatcccataattcctgctgactatgttgcaattaaggctcccatgttttcc
tggccccggttgagggatgctgaccccattctgagatgtgagatggcttccactggagag
gtggcttgctttggtgaaggtattcatacagccttcctaaaggcaatgctttccacagga
tttaagataccccagaaaggcatcctgataggcatccagcaatcattccggccaagattc
cttggtgtggctgaacaattacacaatgaaggtttcaagctgtttgccacggaagccaca
tcagactggctcaacgccaacaatgtccctgccaccccagtggcatggccgtctcaagaa
ggacagaatcccagcctctcttccatcagaaaattgattagagatggcagcattgaccta
gtgattaaccttcccaacaacaacactaaatttgtccatgataattatgtgattcggagg
acagctgttgatagtggaatccctctcctcactaattttcaggtgaccaaactttttgct
gaagctgtgcagaaatctcgcaaggtggactccaagagtcttttccactacaggcagtac
agtgctggaaaagcagcatag

All links

Pathway (4)   
   KEGG PATHWAY (4)   
Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (7)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (9)   
   UniProt (1)   
   RefSeq(pep) (3)   
   IPI (5)   
DNA sequence (13)   
   RefSeq(nuc) (3)   
   GenBank (5)   
   EMBL (5)   
3D Structure (1)   
   PDB (1)   
Protein domain (16)   
   Pfam (12)   
   PROSITE (4)   
All databases (60)

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