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CTPS1 - CTP synthase 1 Gene

Also Known as CTPS; GATD5; IMD24; GATD5A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1503

About CTPS1

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:40,979,696-41,012,565 (from NCBI)

This gene has 24 transcripts (splice variants), 274 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in endometrium (RPKM 10.6), testis (RPKM 9.2) and 24 other tissues.

Summary

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 important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

CTPS1 Products (2)

mRNA	Protein	Name
NM_001301237.2	NP_001288166.1	CTP synthase 1 isoform b
NM_001905.4	NP_001896.2	CTP synthase 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables CTP synthase activity	IDA IDA: Inferred from direct assay	16179339	GOA
enables CTP synthase activity	IGI IGI: Inferred from genetic interaction	16179339	GOA
enables CTP synthase activity	IMP IMP: Inferred from mutant phenotype	24870241	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in B cell proliferation	IMP IMP: Inferred from mutant phenotype	24870241	GOA
involved in CTP biosynthetic process	IDA IDA: Inferred from direct assay	16179339	GOA
involved in CTP biosynthetic process	IMP IMP: Inferred from mutant phenotype	24870241	GOA
involved in T cell proliferation	IMP IMP: Inferred from mutant phenotype	24870241	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cytoophidium	IDA IDA: Inferred from direct assay	25223282	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CTPS1 Protein Structure

CTP_synth_N

GATase

0
100
200
300
400
500
591 a.a.

Protein Preferred Names	Protein Names
CTP synthase 1	CTP synthetase 1

CTPS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	CTPS1	P17812	CTPS2	Homo sapiens	Q9NRF8	Validated Y2H	32296183
Intra	CTPS1	P17812	CTPS2	Homo sapiens	Q9NRF8	Y2H Array	32296183
Intra	CTPS1	P17812	CTPS2	Homo sapiens	Q9NRF8	Y2H Prey Pooling	32296183
Intra	CTPS1	P17812	CTPS2	Homo sapiens	Q9NRF8	Anti Tag CoIP	35271311

Cross: Cross-species interaction Intra: Intraspecies interaction

CTPS1 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P82829	CTP Synthase Antibody (YA2574)	WB	Human
HY-P82829A	CTP Synthase Antibody (YA2574)(PBS only)	WB	Human

Related Diseases

Diseases	Alias
Immunodeficiency 24	Severe Combined Immunodeficiency Due To Ctps1 Deficiency IMD24 Scid Due To Ctps1 Deficiency Immunodeficiency, Type 24
Nemaline Myopathy 7	NEM7 Nemaline Myopathy 7, Autosomal Recessive Cfl2-Related Nemaline Myopathy Myopathy, Nemaline, Type 7
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	XMEN X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia Cid Due To Magt1 Deficiency Combined Immunodeficiency Due To Magt1 Deficiency X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection An X-Linked Magnesium Deficiency With Epstein-Barr Virus Infection And Neoplasia
Lymphoproliferative Syndrome 2	Cd27 Deficiency LPFS2 Combined Immunodeficiency Due To Cd27 Deficiency Autosomal Recessive Lymphoproliferative Disease Due To Cd27 Deficiency
Middle Lobe Syndrome
Lymphoproliferative Syndrome, X-Linked, 1	Lymphomatoid Papulosis Duncan Disease Purtilo Syndrome X-Linked Lymphoproliferative Syndrome Xlp X-Linked Lymphoproliferative Disease XLP1 Lyp Lymphoproliferative Disease, X-Linked Xlpd X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency Ebv Infection, Severe, Susceptibility To Ebvs Immunodeficiency 5 Imd5 X-Linked Lymphoproliferative Syndrome 1 Epstein-Barr Virus Infection, Familial Fatal Ebv Infection, Severe Infectious Mononucleosis, Severe Infectious Mononucleosis, Severe, Susceptibility To Immunodeficiency, X-Linked Progressive Combined Variable Epstein Barr Virus Infection, Familial Fatal X-Linked Progressive Combined Variable Immunodeficiency 5 Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males Familial Fatal Epstein-Barr Infection Severe Susceptibility To Ebv Infection Severe Susceptibility To Infectious Mononucleosis Sap Deficiency Sh2d1a/Slam-Associated Protein Deficiency X-Linked Lymphoproliferative Syndrome Type 1 X-Linked Progressive Combined Variable Immunodeficiency Lymphoproliferative Syndrome, X-Linked Sap X-Linked Lymphoproliferative Disorder
Ras-Associated Autoimmune Leukoproliferative Disorder	RALD Autoimmune Lymphoproliferative Syndrome Type 4 Alps4 Autoimmune Lymphoproliferative Syndrome, Type Iv Ras-Associated Autoimmune Leukoproliferative Disease Ras-Associated Autoimmune Lymphoproliferative Syndrome Type Iv, Somatic Alps Type 4 Alps Type Iv Autoimmune Lymphoproliferative Syndrome Type Iv Autoimmune Lymphoproliferative Syndrome 4
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-152149	CTP Synthetase-IN-1	Inhibitor	99.70%	Unkown
HY-157783	Dencatistat	Inhibitor	99.87%	Unkown
HY-157746	CTPS1-IN-1	Inhibitor	97.06%	Unkown
HY-RS03314	CTPS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-137619	Sp-dCTPαS		/	Unkown
HY-RS18271	Ctps1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24749	Ctps1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CTPS1	RGD	RGD:1311060
Mus musculus	CTPS1	MGD	MGI:1858304
Canis familiaris	CTPS1	VGNC	VGNC:39704
Felis catus	CTPS1	VGNC	VGNC:61260
Macaca mulatta	CTPS1	VGNC	VGNC:71549
Bos taurus	CTPS1	VGNC	VGNC:27808
Others	CTPS1	NCBI