• Gene id: 1373

Gene Summary

• Gene Symbol: CPS1   Gene   UCSC   Ensembl
• Aliases: CPSASE1, PHN
• Gene name: carbamoyl-phosphate synthase 1
• Alternate names: carbamoyl-phosphate synthase [ammonia], mitochondrial, carbamoyl-phosphate synthase (ammonia), carbamoyl-phosphate synthase 1, mitochondrial, carbamoylphosphate synthetase I,
• Gene location: 2q34 (210477684: 210679106)     Exons: 43     NC_000002.12
• Gene summary(Entrez): The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded pr
• OMIM: 608307

Protein Summary

• Protein general information: P31327  
  • Name: Carbamoyl phosphate synthase [ammonia], mitochondrial (EC 6.3.4.16) (Carbamoyl phosphate synthetase I) (CPSase I)
  • Length: 1500  
  • Mass: 164939
  • Tissue specificity: Primarily in the liver and small intestine.
• Sequence:

  MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNT
  GLGGYPEAITDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLG
  QWLQEEKVPAIYGVDTRMLTKIIRDKGTMLGKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDC
  GIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGGPGNPALAEPLIQNVRKILESDRKEPLFGISTGNLIT
  GLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQTNEGIMHESKPFFAVQ
  FHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVK
  AMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGV
  LKEYGVKVLGTSVESIMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGIC
  PNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNA
  EFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPEI
  KNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTP
  RLPMNKEWPSNLDLRKELSEPSSTRIYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGLNSESMT
  EETLKRAKEIGFSDKQISKCLGLTEAQTRELRLKKNIHPWVKQIDTLAAEYPSVTNYLYVTYNGQEHDVNFDDHG
  MMVLGCGPYHIGSSVEFDWCAVSSIRTLRQLGKKTVVVNCNPETVSTDFDECDKLYFEELSLERILDIYHQEACG
  GCIISVGGQIPNNLAVPLYKNGVKIMGTSPLQIDRAEDRSIFSAVLDELKVAQAPWKAVNTLNEALEFAKSVDYP
  CLLRPSYVLSGSAMNVVFSEDEMKKFLEEATRVSQEHPVVLTKFVEGAREVEMDAVGKDGRVISHAISEHVEDAG
  VHSGDATLMLPTQTISQGAIEKVKDATRKIAKAFAISGPFNVQFLVKGNDVLVIECNLRASRSFPFVSKTLGVDF
  IDVATKVMIGENVDEKHLPTLDHPIIPADYVAIKAPMFSWPRLRDADPILRCEMASTGEVACFGEGIHTAFLKAM
  LSTGFKIPQKGILIGIQQSFRPRFLGVAEQLHNEGFKLFATEATSDWLNANNVPATPVAWPSQEGQNPSLSSIRK
  LIRDGSIDLVINLPNNNTKFVHDNYVIRRTAVDSGIPLLTNFQVTKLFAEAVQKSRKVDSKSLFHYRQYSAGKAA

• Structural information:
  • Protein Domains: (219..40-)
    type-1 (/note="Glutamine-amidotransferase)
    (551..74-)
    (/note="ATP-grasp-1)
    (1093..128-)
    (/note="ATP-grasp-2)
    (1355..150-)
    (/note="MGS-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01202"-)
  • Interpro: IPR011761  IPR013815  IPR006275  IPR005480  IPR036897   IPR006274  IPR002474  IPR036480  IPR005479  IPR005483  IPR029062  IPR041557  IPR035686  IPR017926  IPR011607  IPR036914  IPR016185  
  • Prosite: PS50975 PS00866 PS00867 PS51273 PS51855
  • CDD: cd01744
  • PDB: 2YVQ 4UTR 4UTV 4UTX 4UTZ 4UU7 4UU8 4UUA 4UUB 5DOT 5DOU 5OJO
  • PDBsum: 2YVQ 4UTR 4UTV 4UTX 4UTZ 4UU7 4UU8 4UUA 4UUB 5DOT 5DOU 5OJO
  • STRING: ENSP00000402608
• Other Databases: GeneCards:  CPS1  Malacards:  CPS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006807	nitrogen compound metabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0006541	glutamine metabolic process	IBA	biological process
GO:0006807	nitrogen compound metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004088	carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006207	'de novo' pyrimidine nucleobase biosynthetic process	IEA	biological process
GO:0006541	glutamine metabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000050	urea cycle	IEA	biological process
GO:0004087	carbamoyl-phosphate synthase (ammonia) activity	IEA	molecular function
GO:0004087	carbamoyl-phosphate synthase (ammonia) activity	EXP	molecular function
GO:0000050	urea cycle	TAS	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004087	carbamoyl-phosphate synthase (ammonia) activity	IEA	molecular function
GO:0071548	response to dexamethasone	IEA	biological process
GO:0071320	cellular response to cAMP	IEA	biological process
GO:0055081	anion homeostasis	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0048545	response to steroid hormone	IEA	biological process
GO:0044344	cellular response to fibroblast growth factor stimulus	IEA	biological process
GO:0042594	response to starvation	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0032094	response to food	IEA	biological process
GO:0016595	glutamate binding	IEA	molecular function
GO:0010043	response to zinc ion	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0007494	midgut development	IEA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0004087	carbamoyl-phosphate synthase (ammonia) activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0071400	cellular response to oleic acid	IEA	biological process
GO:0071377	cellular response to glucagon stimulus	IEA	biological process
GO:0070365	hepatocyte differentiation	IEA	biological process
GO:0060416	response to growth hormone	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0043200	response to amino acid	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0034201	response to oleic acid	IEA	biological process
GO:0033762	response to glucagon	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0014075	response to amine	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005543	phospholipid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0001889	liver development	IEA	biological process
GO:0000050	urea cycle	IEA	biological process
GO:0004087	carbamoyl-phosphate synthase (ammonia) activity	IMP	molecular function
GO:0004087	carbamoyl-phosphate synthase (ammonia) activity	IMP	molecular function
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0019240	citrulline biosynthetic process	NAS	biological process
GO:0019433	triglyceride catabolic process	IMP	biological process
GO:0070409	carbamoyl phosphate biosynthetic process	IMP	biological process
GO:1903718	cellular response to ammonia	IMP	biological process
GO:0000050	urea cycle	NAS	biological process
GO:0042311	vasodilation	IMP	biological process
GO:0046209	nitric oxide metabolic process	IMP	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0072341	modified amino acid binding	IDA	molecular function
GO:0050667	homocysteine metabolic process	IDA	biological process
GO:0032496	response to lipopolysaccharide	IDA	biological process
GO:0070409	carbamoyl phosphate biosynthetic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa00250	Alanine, aspartate and glutamate metabolism
hsa00910	Nitrogen metabolism
hsa00220	Arginine biosynthesis

Diseases

Associated diseases	References
Primary hyperammonemic disorders	KEGG:H01398
Carbamoyl phosphate synthetase I deficiency	KEGG:H00164
Primary hyperammonemic disorders	KEGG:H01398
Carbamoyl phosphate synthetase I deficiency	KEGG:H00164
Persistent fetal circulation syndrome	PMID:11407344
Vascular disease	PMID:14718356
Carbamoyl phosphate synthetase I deficiency disease	PMID:8486760
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R