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CTPS1 CTP synthase 1 [ Homo sapiens (human) ]

Gene ID: 1503, updated on 12-May-2019

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
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
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

Genomic context

See CTPS1 in Genome Data Viewer
Location:
1p34.2
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (40979299..41012565)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (41445007..41478237)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 2 catalytic subunit alpha pseudogene Neighboring gene ubiquitin conjugating enzyme E2 V1 pseudogene 8 Neighboring gene SLFNL1 antisense RNA 1 Neighboring gene schlafen like 1 Neighboring gene Scm polycomb group protein homolog 1 Neighboring gene ribosomal protein L23a pseudogene 17

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
CTP synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CTP synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
CTP synthase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
CTP synthase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
identical protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
'de novo' CTP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
B cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
CTP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CTP biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
CTP biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
T cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
glutamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
nucleobase-containing compound metabolic process TAS
Traceable Author Statement
more info
PubMed 
nucleobase-containing small molecule interconversion TAS
Traceable Author Statement
more info
 
pyrimidine nucleobase biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to drug TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoophidium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoophidium IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 

General protein information

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
NP_001896.2
XP_024309320.1
XP_024309321.1
XP_024309322.1
XP_024309329.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_034208.1 RefSeqGene

    Range
    5398..38267
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1229

mRNA and Protein(s)

  1. NM_001301237.1NP_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, DA639348
    UniProtKB/Swiss-Prot
    P17812
    UniProtKB/TrEMBL
    B4E1E0
    Related
    ENSP00000497698.1, ENST00000649215.1
    Conserved Domains (3) summary
    cd01746
    Location:143388
    GATase1_CTP_Synthase; Type 1 glutamine amidotransferase (GATase1) domain found in Cytidine Triphosphate Synthetase
    pfam00117
    Location:156390
    GATase; Glutamine amidotransferase class-I
    cl21455
    Location:1116
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_001905.4NP_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
    P17812
    Related
    ENSP00000361704.4, ENST00000372621.8
    Conserved Domains (1) summary
    PLN02327
    Location:1556
    PLN02327; CTP synthase

RNA

  1. NR_125440.1 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, DC313620
    Related
    ENST00000498694.2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    40979299..41012565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453553.1XP_024309321.1  CTP synthase 1 isoform X2

    Conserved Domains (1) summary
    PLN02327
    Location:1556
    PLN02327; CTP synthase
  2. XM_024453552.1XP_024309320.1  CTP synthase 1 isoform X1

    Conserved Domains (1) summary
    PLN02327
    Location:8563
    PLN02327; CTP synthase
  3. XM_024453561.1XP_024309329.1  CTP synthase 1 isoform X3

    Conserved Domains (1) summary
    PLN02327
    Location:8341
    PLN02327; CTP synthase
  4. XM_024453554.1XP_024309322.1  CTP synthase 1 isoform X2

    Related
    ENSP00000361699.1, ENST00000372616.1
    Conserved Domains (1) summary
    PLN02327
    Location:1556
    PLN02327; CTP synthase

RNA

  1. XR_001737004.1 RNA Sequence

    Related
    ENST00000648020.1
  2. XR_001737003.1 RNA Sequence

    Related
    ENST00000648914.1
  3. XR_002959539.1 RNA Sequence

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