2. Gene
  3. CTPS1 - CTP synthase 1 Gene

CTPS1 - CTP synthase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CTPS; GATD5; IMD24; GATD5A

Gene ID: 1503 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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)

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  • 500
  • 591 a.a.
Protein Preferred Names Protein Names

CTP synthase 1

CTP synthetase 1

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
Bioactive Molecules (5)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-152149 CTP Synthetase-IN-1 Inhibitor 99.56% Unkown
HY-157746 CTPS1-IN-1 Inhibitor 97.06% Unkown
HY-157783 CTPS1-IN-2 Inhibitor / Unkown
HY-RS03314 CTPS1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-137619 Sp-dCTPαS / 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