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 References 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 References 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 References 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

CTP_synth_N: CTP synthase N-terminus (1 - 276)

GATase

GATase: Glutamine amidotransferase class-I (311 - 542)

  • 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 References
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 Antibodies

Cat. No. Product Name 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. Product Name
Effect
Purity
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