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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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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

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