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    DCTPP1 dCTP pyrophosphatase 1 [ Homo sapiens (human) ]

    Gene ID: 79077, updated on 5-Mar-2024

    Summary

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    Official Symbol
    DCTPP1provided by HGNC
    Official Full Name
    dCTP pyrophosphatase 1provided by HGNC
    Primary source
    HGNC:HGNC:28777
    See related
    Ensembl:ENSG00000179958 MIM:615840; AllianceGenome:HGNC:28777
    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
    CDA03; RS21C6; XTP3TPA
    Summary
    The protein encoded by this gene is dCTP pyrophosphatase, which converts dCTP to dCMP and inorganic pyrophosphate. The encoded protein also displays weak activity against dTTP and dATP, but none against dGTP. This protein may be responsible for eliminating excess dCTP after DNA synthesis and may prevent overmethylation of CpG islands. Three transcript variants, one protein-coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in colon (RPKM 23.2), lymph node (RPKM 13.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DCTPP1 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30423615..30430030, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30809819..30816234, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30434936..30441351, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7370 Neighboring gene zinc finger protein 771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7371 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7373 Neighboring gene small nucleolar RNA, H/ACA box 80C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30439454-30439954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30439955-30440455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10702 Neighboring gene Sharpr-MPRA regulatory region 2626 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30456387-30457333 Neighboring gene Sharpr-MPRA regulatory region 3639 Neighboring gene selenophosphate synthetase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30465507-30466176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30468045-30468546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30468547-30469046 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr16:30469848-30470348 and GRCh37_chr16:30470349-30470849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10706 Neighboring gene CRISPRi-FlowFISH-validated ITGAL regulatory element GRCh37_chr16:30483658-30484232 Neighboring gene integrin subunit alpha L Neighboring gene RNA, U7 small nuclear 61 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. DCTPP1 prevents a mutator phenotype through the modulation of dCTP, dTTP and dUTP pools. Martínez-Arribas B, et al. Cell Mol Life Sci, 2020 Apr. PMID 31377845, Free PMC Article
    2. Autophagy induced by overexpression of DCTPP1 promotes tumor progression and predicts poor clinical outcome in prostate cancer. Lu J, et al. Int J Biol Macromol, 2018 Oct 15. PMID 29874556
    3. Human dCTP pyrophosphatase 1 promotes breast cancer cell growth and stemness through the modulation on 5-methyl-dCTP metabolism and global hypomethylation. Song FF, et al. Oncogenesis, 2015 Jun 15. PMID 26075750, Free PMC Article
    4. dCTP pyrophosphohydrase exhibits nucleic accumulation in multiple carcinomas. Zhang Y, et al. Eur J Histochem, 2013 Sep 25. PMID 24085278, Free PMC Article
    5. Triptolide directly inhibits dCTP pyrophosphatase. Corson TW, et al. Chembiochem, 2011 Jul 25. PMID 21671327, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Silencing DSCAM-AS1 suppresses the growth and invasion of ER-positive breast cancer cells by downregulating both DCTPP1 and QPRT.
      Title: Silencing DSCAM-AS1 suppresses the growth and invasion of ER-positive breast cancer cells by downregulating both DCTPP1 and QPRT.
    2. Chemical Genetics Reveals a Role of dCTP Pyrophosphatase 1 in Wnt Signaling.
      Title: Chemical Genetics Reveals a Role of dCTP Pyrophosphatase 1 in Wnt Signaling.
    3. This study identifies a central role for DCTPP1 in the homeostasis of dCTP, dTTP and dUTP.
      Title: DCTPP1 prevents a mutator phenotype through the modulation of dCTP, dTTP and dUTP pools.
    4. DCTPP1 may play an important role in PCa progression associated with high autophagy
      Title: Autophagy induced by overexpression of DCTPP1 promotes tumor progression and predicts poor clinical outcome in prostate cancer.
    5. Hypermethylation of CpG islands in MDR1 gene promoter region is obvious in DCTPP1-knockdown BGC-823 gastric cancer (GC) cells.
      Title: DCTPP1 attenuates the sensitivity of human gastric cancer cells to 5-fluorouracil by up-regulating MDR1 expression epigenetically.
    6. DCTPP1 has a central role in the balance of dCTP and the metabolism of deoxycytidine analogues.
      Title: The NTP pyrophosphatase DCTPP1 contributes to the homoeostasis and cleansing of the dNTP pool in human cells.
    7. Human dCTP pyrophosphatase 1 binds and is inhibited by the small molecule triptolide in vitro.
      Title: Triptolide directly inhibits dCTP pyrophosphatase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC5627

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dCTP diphosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dCTP diphosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables magnesium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables nucleoside triphosphate diphosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleoside triphosphate diphosphatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables pyrimidine deoxyribonucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA protection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA protection IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in dCTP catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dCTP catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in dTTP catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nucleoside triphosphate catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nucleoside triphosphate catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dCTP pyrophosphatase 1
    Names
    XTP3-transactivated gene A protein
    XTP3-transactivated protein A
    dCTPase 1
    deoxycytidine-triphosphatase 1
    NP_077001.1

    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.

    mRNA and Protein(s)

    1. NM_024096.2 → NP_077001.1  dCTP pyrophosphatase 1

      See identical proteins and their annotated locations for NP_077001.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the protein-coding transcript.
      Source sequence(s)
      AC116348, BC001344
      Consensus CDS
      CCDS10680.1
      UniProtKB/Swiss-Prot
      Q9H773
      Related
      ENSP00000322524.4, ENST00000319285.5
      Conserved Domains (1) summary
      cd11537
      Location:35 → 125
      NTP-PPase_RS21-C6_like; Nucleoside Triphosphate Pyrophosphohydrolase (EC 3.6.1.8) MazG-like domain found in mouse RS21-C6 protein and its homologs

    RNA

    1. NR_134470.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction at the 3' end of the first exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC116348, BC001344, BE897551

    2. NR_134471.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate first exon in place of that of variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC116348, BC001344, BE798090

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      30423615..30430030 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      30809819..30816234 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H773.1 GenPept UniProtKB/Swiss-Prot:Q9H773

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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