HuLPr16188

Uniprot ID

CPSM_HUMAN

Uniprot Acc

P31327;B7Z818;O43774;Q7Z5I5;

Protein name

Carbamoyl-phosphate synthase [ammonia], mitochondrial

Comment

FUNCTION:Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.||CATALYTIC ACTIVITY:2 ATP + NH(3) + CO(2) + H(2)O = 2 ADP + phosphate + carbamoyl phosphate.||ENZYME REGULATION:Requires N-acetyl-L-glutamate (NAG) as an allosteric activator.||INTERACTION:P10398:ARAF; NbExp=3; IntAct=EBI-536811, EBI-365961; P04049:RAF1; NbExp=2; IntAct=EBI-536811, EBI-365996; Q8K2C6:Sirt5 (xeno); NbExp=1; IntAct=EBI-536811, EBI-2348809;||SUBCELLULAR LOCATION:Mitochondrion.||ALTERNATIVE PRODUCTS:Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P31327-1; Sequence=Displayed; Name=2; IsoId=P31327-2; Sequence=VSP 009332;||TISSUE SPECIFICITY:Primarily in the liver and small intestine.||DOMAIN:The type-1 glutamine amidotransferase domain is defective.||DISEASE:Defects in CPS1 are the cause of carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]. CPS1D is an autosomal recessive disorder of the urea cycle causing

Subcellular localization

Mitochondrion.

Gene name

carbamoyl-phosphate synthase 1, mitochondrial

Related liver disease name

Hepatocellular carcinoma

Protein sequence

MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLS VKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGG YPEAITDPAYKGQILTMANPIIGNGGAPDTTALDELGLS KYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEK VPAIYGVDTRMLTKIIRDKGTMLGKIEFEGQPVDFVDPN KQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLL VKRGAEVHLVPWNHDFTKMEYDGILIAGGPGNPALAEPL IQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSM ANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPL FVNVNDQTNEGIMHESKPFFAVQFHPEVTPGPIDTEYLF DSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGS GGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASV QTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGM GGQTALNCGVELFKRGVLKEYGVKVLGTSVESIMATEDR QLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMI RSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKS VTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSV VVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFAL HPTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIA LGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRF HGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSI EGFTPRLPMNKEWPSNLDLRKELSEPSSTRIYAIAKAID DNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGLNSES MTEETLKRAKEIGFSDKQISKCLGLTEAQTRELRLKKNI HPWVKQIDTLAAEYPSVTNYLYVTYNGQEHDVNFDDHGM MVLGCGPYHIGSSVEFDWCAVSSI

Database cross reference

RefSeq Protein accession:NP_001116106
RefSeq Protein gi:170295797

Yes/No

Yes

Evidence

Translational level from literatures

Quality score

HCC significant Proteins

Yes/No

Yes

Quality score

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;French Liver;Human Fetal Liver;Human Liver Organelles;