• Gene id: 1503

Gene Summary

• Gene Symbol: CTPS1   Gene   UCSC   Ensembl
• Aliases: CTPS, GATD5, IMD24
• Gene name: CTP synthase 1
• Alternate names: CTP synthase 1, CTP synthetase 1, UTP--ammonia ligase 1, cytidine 5'-triphosphate synthetase, cytidine 5-prime triphosphate synthetase,
• Gene location: 1p34.2 (40979695: 41012564)     Exons: 22     NC_000001.11
• Gene summary(Entrez): This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is importa
• OMIM: 123860

Protein Summary

• Protein general information: P17812  
  • Name: CTP synthase 1 (EC 6.3.4.2) (CTP synthetase 1) (UTP ammonia ligase 1)
  • Length: 591  
  • Mass: 66690
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MKYILVTGGVISGIGKGIIASSVGTILKSCGLHVTSIKIDPYINIDAGTFSPYEHGEVFVLDDGGEVDLDLGNYE
  RFLDIRLTKDNNLTTGKIYQYVINKERKGDYLGKTVQVVPHITDAIQEWVMRQALIPVDEDGLEPQVCVIELGGT
  VGDIESMPFIEAFRQFQFKVKRENFCNIHVSLVPQPSSTGEQKTKPTQNSVRELRGLGLSPDLVVCRCSNPLDTS
  VKEKISMFCHVEPEQVICVHDVSSIYRVPLLLEEQGVVDYFLRRLDLPIERQPRKMLMKWKEMADRYDRLLETCS
  IALVGKYTKFSDSYASVIKALEHSALAINHKLEIKYIDSADLEPITSQEEPVRYHEAWQKLCSAHGVLVPGGFGV
  RGTEGKIQAIAWARNQKKPFLGVCLGMQLAVVEFSRNVLGWQDANSTEFDPTTSHPVVVDMPEHNPGQMGGTMRL
  GKRRTLFQTKNSVMRKLYGDADYLEERHRHRFEVNPVWKKCLEEQGLKFVGQDVEGERMEIVELEDHPFFVGVQY
  HPEFLSRPIKPSPPYFGLLLASVGRLSHYLQKGCRLSPRDTYSDRSGSSSPDSEITELKFPSINHD

• Structural information:
  • Protein Domains: (300..55-)
    type-1" (/note="Glutamine-amidotransferase)
  • Interpro: IPR029062  IPR004468  IPR017456  IPR017926  IPR033828   IPR027417  
  • Prosite: PS51273
  • CDD: cd01746
  • PDB: 2VO1 5U03
  • PDBsum: 2VO1 5U03
  • STRING: ENSP00000361704
• Other Databases: GeneCards:  CTPS1  Malacards:  CTPS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0042802	identical protein binding	IBA	molecular function
GO:0003883	CTP synthase activity	IBA	molecular function
GO:0006241	CTP biosynthetic process	IBA	biological process
GO:0019856	pyrimidine nucleobase biosynthetic process	IBA	biological process
GO:0097268	cytoophidium	IBA	cellular component
GO:0042098	T cell proliferation	IMP	biological process
GO:0003883	CTP synthase activity	IMP	molecular function
GO:0006241	CTP biosynthetic process	IMP	biological process
GO:0042100	B cell proliferation	IMP	biological process
GO:0003883	CTP synthase activity	IEA	molecular function
GO:0006241	CTP biosynthetic process	IEA	biological process
GO:0006221	pyrimidine nucleotide biosynthetic process	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0006221	pyrimidine nucleotide biosynthetic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0006541	glutamine metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003883	CTP synthase activity	TAS	molecular function
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
GO:0042493	response to drug	TAS	biological process
GO:0003883	CTP synthase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0015949	nucleobase-containing small molecule interconversion	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0044210	'de novo' CTP biosynthetic process	IEA	biological process
GO:0097268	cytoophidium	IDA	cellular component
GO:0006241	CTP biosynthetic process	IDA	biological process
GO:0003883	CTP synthase activity	IDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0003883	CTP synthase activity	IGI	molecular function
GO:0003883	CTP synthase activity	IGI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00240	Pyrimidine metabolism

Diseases

Associated diseases	References
Combined immunodeficiency	KEGG:H00093
Combined immunodeficiency	KEGG:H00093
biliary tract benign neoplasm	PMID:12819026
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq