CPS1
entrez
1373
canonical
uniprot
P31327
canonical
ensembl
ENSG00000021826
resolver
ensp
ENSP00000233072
resolver
ensp
ENSP00000500537
resolver
ensp
ENSP00000501022
resolver
genesymbol
CPS1
resolver
hgnc
HGNC:2323
resolver
uniprot
B7Z818
resolver
uniprot
J3KQL0
resolver
uniprot
O43774
resolver
uniprot
Q53TL5
resolver
uniprot
Q59HF8
resolver
uniprot
Q6PEK7
resolver
uniprot
Q7Z5I5
resolver
uniprot_entry
CPSM_HUMAN
resolver
uniprot_entry
Q6PEK7_HUMAN
resolver
uniprot_sec
B7Z818
resolver
uniprot_sec
J3KQL0
resolver
uniprot_sec
O43774
resolver
uniprot_sec
Q53TL5
resolver
uniprot_sec
Q59HF8
resolver
uniprot_sec
Q7Z5I5
resolver
activity_regulation
ACTIVITY REGULATION: Requires N-acetyl-L-glutamate (NAG) as an allosteric activator. Activated by glycerol in the absence of NAG, whereas in the presence of NAG it is inhibited by increasing concentrations of glycerol. {ECO:0000269|PubMed:19754428, ECO:0000269|PubMed:23649895}.
uniprot
proteins
amino_acid_sequence
MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAITDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTMLGKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGGPGNPALAEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQTNEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVESIMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDLRKELSEPSSTRIYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGLNSESMTEETLKRAKEIGFSDKQISKCLGLTEAQTRELRLKKNIHPWVKQIDTLAAEYPSVTNYLYVTYNGQEHDVNFDDHGMMVLGCGPYHIGSSVEFDWCAVSSIRTLRQLGKKTVVVNCNPETVSTDFDECDKLYFEELSLERILDIYHQEACGGCIISVGGQIPNNLAVPLYKNGVKIMGTSPLQIDRAEDRSIFSAVLDELKVAQAPWKAVNTLNEALEFAKSVDYPCLLRPSYVLSGSAMNVVFSEDEMKKFLEEATRVSQEHPVVLTKFVEGAREVEMDAVGKDGRVISHAISEHVEDAGVHSGDATLMLPTQTISQGAIEKVKDATRKIAKAFAISGPFNVQFLVKGNDVLVIECNLRASRSFPFVSKTLGVDFIDVATKVMIGENVDEKHLPTLDHPIIPADYVAIKAPMFSWPRLRDADPILRCEMASTGEVACFGEGIHTAFLKAMLSTGFKIPQKGILIGIQQSFRPRFLGVAEQLHNEGFKLFATEATSDWLNANNVPATPVAWPSQEGQNPSLSSIRKLIRDGSIDLVINLPNNNTKFVHDNYVIRRTAVDSGIPLLTNFQVTKLFAEAVQKSRKVDSKSLFHYRQYSAGKAA
uniprot
proteins
disease_involvement
DISEASE: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]: An autosomal recessive disorder of the urea cycle causing hyperammonemia. It can present as a devastating metabolic disease dominated by severe hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as life-threatening hyperammonemic crises under catabolic situations. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and intellectual disability. {ECO:0000269|PubMed:11388595, ECO:0000269|PubMed:11474210, ECO:0000269|PubMed:12655559, ECO:0000269|PubMed:12955727, ECO:0000269|PubMed:15164414, ECO:0000269|PubMed:15617192, ECO:0000269|PubMed:16737834, ECO:0000269|PubMed:17310273, ECO:0000269|PubMed:20578160, ECO:0000269|PubMed:21120950, ECO:0000269|PubMed:22173106, ECO:0000269|PubMed:23649895, ECO:0000269|PubMed:24813853, ECO:0000269|PubMed:26440671, ECO:0000269|PubMed:9711878}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=CPS1 protein variants might influence the availability of precursors for nitric oxide (NO) synthesis and play a role in clinical situations where endogenous NO production is critically important, such as neonatal pulmonary hypertension, increased pulmonary artery pressure following surgical repair of congenital heart defects or hepatovenocclusive disease following bone marrow transplantation (PubMed:11407344). {ECO:0000269|PubMed:11407344}.
uniprot
proteins
ec_number
6.3.4.16
uniprot
proteins
function
FUNCTION: Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.
uniprot
proteins
mass_dalton
164939
uniprot
proteins
post_translational_modification
PTM: Undergoes proteolytic cleavage in the C-terminal region corresponding to the loss of approximately 12 AA residues from the C-terminus. {ECO:0000269|PubMed:23649895}.; PTM: Succinylated at Lys-287 and Lys-1291. Desuccinylated at Lys-1291 by SIRT5, leading to activation (By similarity). {ECO:0000250|UniProtKB:Q8C196}.; PTM: Glutarylated. Glutarylation levels increase during fasting. Deglutarylated by SIRT5 at Lys-55, Lys-219, Lys-412, Lys-889, Lys-892, Lys-915, Lys-1360 and Lys-1486, leading to activation. {ECO:0000269|PubMed:24703693}.
uniprot
proteins
pubmed
11388595
uniprot
proteins
pubmed
11407344
uniprot
proteins
pubmed
11474210
uniprot
proteins
pubmed
12655559
uniprot
proteins
pubmed
12853138
uniprot
proteins
pubmed
12955727
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164414
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15617192
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16737834
uniprot
proteins
pubmed
17310273
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
1840546
uniprot
proteins
pubmed
19754428
uniprot
proteins
pubmed
20520828
uniprot
proteins
pubmed
20578160
uniprot
proteins
pubmed
21120950
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21767969
uniprot
proteins
pubmed
22002106
uniprot
proteins
pubmed
22173106
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23649895
uniprot
proteins
pubmed
24237036
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24703693
uniprot
proteins
pubmed
24813853
uniprot
proteins
pubmed
26440671
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
9711878
uniprot
proteins
sequence_length
1500
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22002106}. Nucleus, nucleolus {ECO:0000269|PubMed:22002106}. Cell membrane {ECO:0000250|UniProtKB:Q8C196}; Peripheral membrane protein {ECO:0000305}; Extracellular side {ECO:0000250|UniProtKB:Q8C196}. Note=Localizes to the cell surface of hepatocytes. {ECO:0000250|UniProtKB:Q8C196}.
uniprot
proteins