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    CTPS1 CTP synthase 1 [ Homo sapiens (human) ]

    Gene ID: 1503, updated on 7-Apr-2024

    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
    NEW
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    Genomic context

    Location:
    1p34.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (40979696..41012565)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (40849069..40881929)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (41445368..41478237)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 2 catalytic subunit alpha pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41410503-41411002 Neighboring gene UBE2V1 pseudogene 8 Neighboring gene Sharpr-MPRA regulatory region 12776 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 859 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:41472557-41473756 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8011 Neighboring gene SLFNL1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41492537-41493455 Neighboring gene MPRA-validated peak193 silencer 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 Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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
    XP_047303417.1
    XP_047303425.1
    XP_047303427.1
    XP_047303428.1
    XP_054190666.1
    XP_054190667.1
    XP_054190668.1
    XP_054190669.1
    XP_054190670.1
    XP_054190671.1
    XP_054190672.1
    XP_054190673.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001301237.2NP_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: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
      B4DR64, D3DPW1, P17812, Q5VW67, Q96GK6
      UniProtKB/TrEMBL
      A0A3B3IRI2
      Related
      ENSP00000497602.1, ENST00000650070.2
      Conserved Domains (1) summary
      PLN02327
      Location:1556
      PLN02327; CTP synthase

    RNA

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      40979696..41012565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447471.1XP_047303427.1  CTP synthase 1 isoform X4

      UniProtKB/TrEMBL
      A0A3B3IRQ8
      Related
      ENSP00000496963.1, ENST00000648914.1
    2. XM_047447472.1XP_047303428.1  CTP synthase 1 isoform X6

      UniProtKB/TrEMBL
      A0A3B3ITB8
      Related
      ENSP00000497714.1, ENST00000648020.2
    3. XM_024453553.2XP_024309321.1  CTP synthase 1 isoform X2

      UniProtKB/Swiss-Prot
      B4DR64, D3DPW1, P17812, Q5VW67, Q96GK6
      UniProtKB/TrEMBL
      A0A3B3IRI2
      Related
      ENSP00000497901.2, ENST00000470271.6
      Conserved Domains (1) summary
      PLN02327
      Location:1556
      PLN02327; CTP synthase
    4. XM_024453552.2XP_024309320.1  CTP synthase 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IRI2
      Conserved Domains (1) summary
      PLN02327
      Location:8563
      PLN02327; CTP synthase
    5. XM_047447461.1XP_047303417.1  CTP synthase 1 isoform X1

    6. XM_047447469.1XP_047303425.1  CTP synthase 1 isoform X3

    7. XM_024453561.2XP_024309329.1  CTP synthase 1 isoform X5

      UniProtKB/TrEMBL
      B7Z9C4
      Conserved Domains (1) summary
      PLN02327
      Location:8341
      PLN02327; CTP synthase
    8. XM_024453554.1XP_024309322.1  CTP synthase 1 isoform X2

      UniProtKB/Swiss-Prot
      B4DR64, D3DPW1, P17812, Q5VW67, Q96GK6
      UniProtKB/TrEMBL
      A0A3B3IRI2
      Related
      ENSP00000361699.1, ENST00000372616.1
      Conserved Domains (1) summary
      PLN02327
      Location:1556
      PLN02327; CTP synthase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      40849069..40881929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334696.1XP_054190671.1  CTP synthase 1 isoform X4

      UniProtKB/TrEMBL
      A0A3B3IRQ8
    2. XM_054334698.1XP_054190673.1  CTP synthase 1 isoform X6

      UniProtKB/TrEMBL
      A0A3B3ITB8
    3. XM_054334693.1XP_054190668.1  CTP synthase 1 isoform X2

      UniProtKB/Swiss-Prot
      B4DR64, D3DPW1, P17812, Q5VW67, Q96GK6
    4. XM_054334691.1XP_054190666.1  CTP synthase 1 isoform X1

    5. XM_054334692.1XP_054190667.1  CTP synthase 1 isoform X1

    6. XM_054334695.1XP_054190670.1  CTP synthase 1 isoform X3

    7. XM_054334697.1XP_054190672.1  CTP synthase 1 isoform X5

    8. XM_054334694.1XP_054190669.1  CTP synthase 1 isoform X2

      UniProtKB/Swiss-Prot
      B4DR64, D3DPW1, P17812, Q5VW67, Q96GK6