CTPS1 CTP synthase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CTPS1provided by HGNC
Official Full Name: CTP synthase 1provided by HGNC
Primary source: HGNC:HGNC:2519
See related: Ensembl:ENSG00000171793 MIM:123860; AllianceGenome:HGNC:2519
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CTPS; GATD5; IMD24; GATD5A
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]
Expression: Ubiquitous expression in endometrium (RPKM 10.6), testis (RPKM 9.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.2

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (40979696..41012565)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (40849069..40881929)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (41445368..41478237)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of cytidine 5'-triphosphate synthetase 1 in metabolic rewiring during epithelial-to-mesenchymal transition in non-small-cell lung cancer.
Title: The role of cytidine 5'-triphosphate synthetase 1 in metabolic rewiring during epithelial-to-mesenchymal transition in non-small-cell lung cancer.
CTPS1 inhibition suppresses proliferation and migration in colorectal cancer cells.
Title: CTPS1 inhibition suppresses proliferation and migration in colorectal cancer cells.
CTPS1 promotes malignant progression of triple-negative breast cancer with transcriptional activation by YBX1.
Title: CTPS1 promotes malignant progression of triple-negative breast cancer with transcriptional activation by YBX1.
Energy deficiency caused by CTPS downregulation in decidua may contribute to pre-eclampsia by impairing decidualization.
Title: Energy deficiency caused by CTPS downregulation in decidua may contribute to pre-eclampsia by impairing decidualization.
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.
Title: Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.
CTP synthase forms the cytoophidium in human hepatocellular carcinoma.
Title: CTP synthase forms the cytoophidium in human hepatocellular carcinoma.
The filament structures elucidate allosteric mechanisms of assembly and regulation that rely on a conserved conformational equilibrium. The findings may provide a mechanism for increasing human CTP synthase activity in response to metabolic state and challenge the assumption that metabolic filaments are generally storage forms of inactive enzymes.
Title: Human CTP synthase filament structure reveals the active enzyme conformation.
Rods and rings (RR) are protein assemblies composed of CTPS1 and IMPDH2. Glutamine deprivation initiates reversible assembly of mammalian rods and rings.
Title: Glutamine deprivation initiates reversible assembly of mammalian rods and rings.
results highlight a key and specific role of CTPS1 in the immune system by its capacity to sustain the proliferation of activated lymphocytes during the immune response
Title: CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
analysis of the kinetic properties of hCTPS1 and hCTPS2, and determination that Ser(68) is a major site of CTPS2 regulation by phosphorylation
Title: Regulation of human cytidine triphosphate synthetase 2 by phosphorylation.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Severe combined immunodeficiency due to CTPS1 deficiency MedGen: C4014617 OMIM: 615897 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Expression of HIV-1 Tat upregulates the abundance of CTP synthase 1 (CTPS1) in the nucleoli of Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3355 (e-PCR)
- UniSTS:76635

SHGC-74644 (e-PCR)
- UniSTS:41827

AL009750 (e-PCR)
- UniSTS:80255

SHGC-149972 (e-PCR)
- UniSTS:177341

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables CTP synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables CTP synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables CTP synthase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables CTP synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables identical protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in 'de novo' CTP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in B cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in CTP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in CTP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in CTP biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glutamine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in nucleobase-containing compound metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in pyrimidine nucleobase biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to xenobiotic stimulus	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoophidium	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoophidium	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: CTP synthase 1

Names: CTP synthetase 1; UTP--ammonia ligase 1; cytidine 5'-triphosphate synthetase; cytidine 5-prime triphosphate synthetase

NP_001288166.1

EC 6.3.4.2

NP_001896.2

EC 6.3.4.2

XP_024309320.1

EC 6.3.4.2

XP_024309321.1

EC 6.3.4.2

XP_024309322.1

EC 6.3.4.2

XP_024309329.1

EC 6.3.4.2

XP_047303417.1

EC 6.3.4.2

XP_047303425.1

EC 6.3.4.2

XP_047303427.1

EC 6.3.4.2

XP_047303428.1

EC 6.3.4.2

XP_054190666.1

EC 6.3.4.2

XP_054190667.1

EC 6.3.4.2

XP_054190668.1

EC 6.3.4.2

XP_054190669.1

EC 6.3.4.2

XP_054190670.1

EC 6.3.4.2

XP_054190671.1

EC 6.3.4.2

XP_054190672.1

EC 6.3.4.2

XP_054190673.1

EC 6.3.4.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034208.1 RefSeqGene

Range

5398..38267

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1229

mRNA and Protein(s)

NM_001301237.2 → NP_001288166.1 CTP synthase 1 isoform b

See identical proteins and their annotated locations for NP_001288166.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks multiple 5' coding exons, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a.

Source sequence(s)

AI190299, AK303797, BC009408

Consensus CDS

CCDS90924.1

UniProtKB/TrEMBL

B4E1E0

Related

ENSP00000497698.1, ENST00000649215.1

Conserved Domains (3) summary

cd01746
Location:143 → 388

GATase1_CTP_Synthase; Type 1 glutamine amidotransferase (GATase1) domain found in Cytidine Triphosphate Synthetase

pfam00117
Location:156 → 390

GATase; Glutamine amidotransferase class-I

cl21455
Location:1 → 116

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001905.4 → NP_001896.2 CTP synthase 1 isoform a

See identical proteins and their annotated locations for NP_001896.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AI190299, BC009408, BQ642049, X52142

Consensus CDS

CCDS459.1

UniProtKB/Swiss-Prot

B4DR64, D3DPW1, P17812, Q5VW67, Q96GK6

UniProtKB/TrEMBL

A0A3B3IRI2

Related

ENSP00000497602.1, ENST00000650070.2

Conserved Domains (1) summary

PLN02327
Location:1 → 556

PLN02327; CTP synthase

RNA

NR_125440.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate segment in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI190299, AK297386, BC009408, BQ642049

Related

ENST00000498694.2