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    PARP4 poly(ADP-ribose) polymerase family member 4 [ Homo sapiens (human) ]

    Gene ID: 143, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PARP4provided by HGNC
    Official Full Name
    poly(ADP-ribose) polymerase family member 4provided by HGNC
    Primary source
    HGNC:HGNC:271
    See related
    Ensembl:ENSG00000102699 MIM:607519; AllianceGenome:HGNC:271
    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
    PH5P; p193; ARTD4; PARPL; VPARP; VWA5C; PARP-4; VAULT3; ADPRTL1
    Summary
    This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in colon (RPKM 22.5), small intestine (RPKM 20.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PARP4 in Genome Data Viewer
    Location:
    13q12.12
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (24420931..24512778, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (23628369..23720247, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (24995069..25086916, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 566 Neighboring gene NUS1 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 8397 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24965836-24966558 Neighboring gene CYCS pseudogene 33 Neighboring gene NANOG hESC enhancer GRCh37_chr13:24993751-24994256 Neighboring gene OCT4 hESC enhancer GRCh37_chr13:25018880-25019381 Neighboring gene uncharacterized LOC105370117 Neighboring gene Sharpr-MPRA regulatory region 4719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5178 Neighboring gene uncharacterized LOC105370295 Neighboring gene Sharpr-MPRA regulatory region 11501 Neighboring gene ankyrin repeat domain-containing protein 26-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7478 Neighboring gene paraspeckle component 1 pseudogene 2

    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 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. Poly(ADP-ribose) polymerase-1 cleavage during apoptosis: an update. Soldani C, et al. Apoptosis, 2002 Aug. PMID 12101391
    2. Genetic variants of PARP4 gene and PARP4P2 pseudogene in patients with multiple primary tumors including thyroid cancer. Cirello V, et al. Mutat Res, 2019 Nov. PMID 31203137
    3. Assessment of PARP4 as a candidate breast cancer susceptibility gene. Prawira A, et al. Breast Cancer Res Treat, 2019 Aug. PMID 31119570
    4. Single‑cell intratumoral stemness analysis reveals the involvement of cell cycle and DNA damage repair in two different types of esophageal cancer. Wu H, et al. Oncol Rep, 2019 Jun. PMID 31002369, Free PMC Article
    5. Germline PARP4 mutations in patients with primary thyroid and breast cancers. Ikeda Y, et al. Endocr Relat Cancer, 2016 Mar. PMID 26699384, Free PMC Article

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PARP4 interacts with hnRNPM to regulate splicing during lung cancer progression.
      Title: PARP4 interacts with hnRNPM to regulate splicing during lung cancer progression.
    2. Structural and biochemical analysis of the PARP1-homology region of PARP4/vault PARP.
      Title: Structural and biochemical analysis of the PARP1-homology region of PARP4/vault PARP.
    3. Identification of a novel PARP4 gene promoter CpG locus associated with cisplatin chemoresistance.
      Title: Identification of a novel PARP4 gene promoter CpG locus associated with cisplatin chemoresistance.
    4. Modification Effect of PARP4 and ERCC1 Gene Polymorphisms on the Relationship between Particulate Matter Exposure and Fasting Glucose Level.
      Title: Modification Effect of PARP4 and ERCC1 Gene Polymorphisms on the Relationship between Particulate Matter Exposure and Fasting Glucose Level.
    5. MVP Expression Facilitates Tumor Cell Proliferation and Migration Supporting the Metastasis of Colorectal Cancer Cells.
      Title: MVP Expression Facilitates Tumor Cell Proliferation and Migration Supporting the Metastasis of Colorectal Cancer Cells.
    6. Modification of PARP4, XRCC3, and RAD51 Gene Polymorphisms on the Relation between Bisphenol A Exposure and Liver Abnormality.
      Title: Modification of PARP4, XRCC3, and RAD51 Gene Polymorphisms on the Relation between Bisphenol A Exposure and Liver Abnormality.
    7. our results do not support that PARP4 functions as a cancer susceptibility gene. This study highlights the importance of performing functional analyses for candidate cancer predisposition genes.
      Title: Assessment of PARP4 as a candidate breast cancer susceptibility gene.
    8. Germline intronic PARP4 variants could be a risk factor for the development of TC.
      Title: Genetic variants of PARP4 gene and PARP4P2 pseudogene in patients with multiple primary tumors including thyroid cancer.
    9. poly [ADPribose] polymerase(PARP)4 was identified as a novel cancer stemnessassociated gene in esophageal squamous cell carcinoma (ESCC) and its association with survival was validated in a cohort of 121 patients with ESCC
      Title: Single‑cell intratumoral stemness analysis reveals the involvement of cell cycle and DNA damage repair in two different types of esophageal cancer.
    10. Major vault protein is important in the drug resistance of cancer cells, but it requires the presence of vPARP for full activity
      Title: vPARP Adjusts MVP Expression in Drug-resistant Cell Lines in Conjunction with MDR Proteins.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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

    EBI GWAS Catalog

    Description
    GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with poly (ADP-ribose) polymerase family, member 4 (PARP4) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    gag-pol Inhibition of HIV-1 protease by saquinavir and leu3.a blocks PARP cleavage and protects cells from apoptosis and necrosis PubMed
    gag-pol HIV-1 protease directly cleaves and activates procaspase 8 in T cells, which is associated with cleavage of BID, mitochondrial release of cytochrome c, activation of the downstream caspases 9 and 3, and cleavage of DFF and PARP PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables NAD+-protein ADP-ribosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables NAD+-protein poly-ADP-ribosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables NAD+-protein poly-ADP-ribosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables NAD+-protein poly-ADP-ribosyltransferase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables enzyme binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleotidyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein modification process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to xenobiotic stimulus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of ribonucleoprotein complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in spindle microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein mono-ADP-ribosyltransferase PARP4
    Names
    193 kDa vault protein
    ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1
    ADP-ribosyltransferase diphtheria toxin-like 4
    H5 proline-rich
    I-alpha-I-related
    PARP-related
    PARP-related/IalphaI-related H5/proline-rich
    poly [ADP-ribose] polymerase 4
    poly(ADP-ribose) synthetase
    poly(ADP-ribosyl)transferase-like 1
    vault poly(ADP-ribose) polymerase
    vault protein, 193-kDa
    von Willebrand factor A domain containing 5C
    NP_006428.2

    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.

    mRNA and Protein(s)

    1. NM_006437.4 → NP_006428.2  protein mono-ADP-ribosyltransferase PARP4

      See identical proteins and their annotated locations for NP_006428.2

      Status: REVIEWED

      Source sequence(s)
      AF158255, AL359763, BX479127, CA308288, CV574448, DB238428, T10289
      Consensus CDS
      CCDS9307.1
      UniProtKB/Swiss-Prot
      O75903, Q14682, Q5QNZ9, Q9H1M6, Q9UKK3
      Related
      ENSP00000371419.3, ENST00000381989.4
      Conserved Domains (5) summary
      cd01437
      Location:251 → 565
      parp_like; Poly(ADP-ribose) polymerase (parp) catalytic domain catalyses the covalent attachment of ADP-ribose units from NAD+ to itself and to a limited number of other DNA binding proteins, which decreases their affinity for DNA. Poly(ADP-ribose) polymerase is a ...
      TIGR03788
      Location:636 → 1184
      marine_srt_targ; marine proteobacterial sortase target protein
      pfam15822
      Location:1308 → 1462
      MISS; MAPK-interacting and spindle-stabilizing protein-like
      cd17726
      Location:5 → 88
      BRCT_PARP4_like; BRCT domain of poly [ADP-ribose] polymerase 4 (PARP-4) and similar proteins
      pfam08487
      Location:623 → 733
      VIT; Vault protein inter-alpha-trypsin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      24420931..24512778 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      23628369..23720247 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKK3.3 GenPept UniProtKB/Swiss-Prot:Q9UKK3

    Gene LinkOut

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

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