Aliases for HPF1 Gene

Aliases for HPF1 Gene

  • Histone PARylation Factor 1 2 3 4 5
  • C4orf27 3 4
  • Chromosome 4 Open Reading Frame 27 2
  • UPF0609 Protein C4orf27 3

External Ids for HPF1 Gene

Previous HGNC Symbols for HPF1 Gene

  • C4orf27

Summaries for HPF1 Gene

GeneCards Summary for HPF1 Gene

HPF1 (Histone PARylation Factor 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for HPF1 Gene

  • Acts as a cofactor for serine ADP-ribosylation by conferring serine specificity on PARP1 and PARP2: interacts with PARP1 and PARP2 and is able to change amino acid specificity toward serine (PubMed:28190768, PubMed:29480802). Promotes histone serine ADP-ribosylation in response to DNA damage, limiting DNA damage-induced PARP1 hyper-automodification, and ensuring genome stability (PubMed:27067600, PubMed:28190768). Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:29480802). HPF1 also promotes tyrosine ADP-ribosylation, probably by conferring tyrosine specificity on PARP1 (PubMed:30257210).

Additional gene information for HPF1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HPF1 Gene

Genomics for HPF1 Gene

GeneHancer (GH) Regulatory Elements for HPF1 Gene

Promoters and enhancers for HPF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J169756 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 514.9 +0.4 444 2.6 ZBTB40 ZNF217 NRF1 POLR2G SP1 PHF8 TEAD4 ZFX ZIC2 POLR2A HPF1 lnc-NEK1-2 MG828730-051
GH04J169759 Enhancer 0.2 Ensembl 500.7 -2.0 -1957 0.2 HPF1 lnc-HPF1-2 MG828730-051
GH04J169266 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +488.0 488046 6.2 POLR2G NCOR1 JUND FOS ZFX EP300 POLR2A CLOCK ZNF423 ZBTB26 SH3RF1 HSALNG0038468 HPF1 ENSG00000251171
GH04J168814 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 11 +941.4 941390 3.6 ZNF217 TCF12 JUND FOS TEAD4 REST ZBTB10 ZNF662 TRIM22 CTBP1 HPF1 piR-50444-355 piR-33807 PALLD
GH04J169745 Enhancer 0.2 Ensembl 17.1 +12.6 12643 1 HPF1 lnc-NEK1-2 MG828730-051
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HPF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HPF1

Genomic Locations for HPF1 Gene

Genomic Locations for HPF1 Gene
chr4:169,729,468-169,757,944
(GRCh38/hg38)
Size:
28,477 bases
Orientation:
Minus strand
chr4:170,650,616-170,679,104
(GRCh37/hg19)
Size:
28,489 bases
Orientation:
Minus strand

Genomic View for HPF1 Gene

Genes around HPF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HPF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HPF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HPF1 Gene

Proteins for HPF1 Gene

  • Protein details for HPF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWY4-HPF1_HUMAN
    Recommended name:
    Histone PARylation factor 1
    Protein Accession:
    Q9NWY4

    Protein attributes for HPF1 Gene

    Size:
    346 amino acids
    Molecular mass:
    39436 Da
    Quaternary structure:
    • Interacts with PARP1 (via the PARP catalytic domain) (PubMed:27067600). Interacts with histone H2A and histone H3 in a PARP1-dependent manner (PubMed:27067600). Weakly interacts with PARP2 (via the PARP catalytic domain) (PubMed:27067600).

neXtProt entry for HPF1 Gene

Post-translational modifications for HPF1 Gene

  • Ubiquitination at Lys253
  • Modification sites at PhosphoSitePlus

Other Protein References for HPF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HPF1 Gene

Domains & Families for HPF1 Gene

Gene Families for HPF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HPF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HPF1 Gene

GenScript: Design optimal peptide antigens:
  • UPF0609 protein C4orf27 (CD027_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NWY4

UniProtKB/Swiss-Prot:

HPF1_HUMAN :
  • Belongs to the HPF1 family.
Family:
  • Belongs to the HPF1 family.
genes like me logo Genes that share domains with HPF1: view

Function for HPF1 Gene

Molecular function for HPF1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a cofactor for serine ADP-ribosylation by conferring serine specificity on PARP1 and PARP2: interacts with PARP1 and PARP2 and is able to change amino acid specificity toward serine (PubMed:28190768, PubMed:29480802). Promotes histone serine ADP-ribosylation in response to DNA damage, limiting DNA damage-induced PARP1 hyper-automodification, and ensuring genome stability (PubMed:27067600, PubMed:28190768). Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:29480802). HPF1 also promotes tyrosine ADP-ribosylation, probably by conferring tyrosine specificity on PARP1 (PubMed:30257210).

Phenotypes From GWAS Catalog for HPF1 Gene

Gene Ontology (GO) - Molecular Function for HPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27067600
GO:0008270 zinc ion binding IBA 21873635
GO:0042393 histone binding IDA 27067600
GO:0072572 poly-ADP-D-ribose binding IBA 21873635
genes like me logo Genes that share ontologies with HPF1: view
genes like me logo Genes that share phenotypes with HPF1: view

Animal Model Products

CRISPR Products

miRNA for HPF1 Gene

miRTarBase miRNAs that target HPF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HPF1 Gene

Localization for HPF1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HPF1 gene
Compartment Confidence
nucleus 4
cytosol 3
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Cytosol (2)
  • Microtubules (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
genes like me logo Genes that share ontologies with HPF1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HPF1 Gene

Pathways & Interactions for HPF1 Gene

PathCards logo

SuperPathways for HPF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006974 cellular response to DNA damage stimulus IMP,IBA 27067600
GO:0010835 regulation of protein ADP-ribosylation IBA,IMP 27067600
GO:0018312 peptidyl-serine ADP-ribosylation IMP,IBA 29480802
genes like me logo Genes that share ontologies with HPF1: view

No data available for Pathways by source and SIGNOR curated interactions for HPF1 Gene

Drugs & Compounds for HPF1 Gene

No Compound Related Data Available

Transcripts for HPF1 Gene

mRNA/cDNA for HPF1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HPF1 Gene

No ASD Table

Relevant External Links for HPF1 Gene

GeneLoc Exon Structure for
HPF1

Expression for HPF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HPF1

Evidence on tissue expression from TISSUES for HPF1 Gene

  • Nervous system(4.3)
  • Skin(4.2)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HPF1 Gene

Orthologs for HPF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HPF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C4H4orf27 30
  • 99.33 (n)
C4orf27 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C4ORF27 31
  • 93 (a)
OneToOne
C25H4orf27 30
  • 92.73 (n)
mouse
(Mus musculus)
Mammalia 2700029M09Rik 31 30
  • 90.06 (n)
OneToOne
Hpf1 17
rat
(Rattus norvegicus)
Mammalia RGD1311747 30
  • 87.95 (n)
cow
(Bos Taurus)
Mammalia C8H4orf27 30
  • 86.22 (n)
C4orf27 31
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C4orf27 31
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C4orf27 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves C4H4ORF27 30
  • 74.57 (n)
C4orf27 31
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C4orf27 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488348 30
  • 69.4 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:101819 30
  • 64.95 (n)
C1H4orf27 31
  • 63 (a)
OneToOne
wufb44b08 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010317 30
  • 47.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1218 31 30
  • 47.03 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Cin.13723 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13723 30
Species where no ortholog for HPF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HPF1 Gene

ENSEMBL:
Gene Tree for HPF1 (if available)
TreeFam:
Gene Tree for HPF1 (if available)

Paralogs for HPF1 Gene

Pseudogenes.org Pseudogenes for HPF1 Gene

genes like me logo Genes that share paralogs with HPF1: view

No data available for Paralogs for HPF1 Gene

Variants for HPF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HPF1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs1047642 - p.Arg174Lys
rs1047706 - p.Glu331Asp

Additional dbSNP identifiers (rs#s) for HPF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for HPF1 Gene

Variant ID Type Subtype PubMed ID
esv3351919 CNV insertion 20981092
esv3603125 CNV loss 21293372
nsv964113 CNV duplication 23825009

Variation tolerance for HPF1 Gene

Residual Variation Intolerance Score: 62.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.56; 30.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HPF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HPF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPF1 Gene

Disorders for HPF1 Gene

Additional Disease Information for HPF1

No disorders were found for HPF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HPF1 Gene

Publications for HPF1 Gene

  1. HPF1/C4orf27 Is a PARP-1-Interacting Protein that Regulates PARP-1 ADP-Ribosylation Activity. (PMID: 27067600) Gibbs-Seymour I … Ahel I (Molecular cell 2016) 2 3 4 54
  2. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 54
  3. Serine is the major residue for ADP-ribosylation upon DNA damage. (PMID: 29480802) Palazzo L … Ahel I (eLife 2018) 3 4 54
  4. Serine ADP-Ribosylation Depends on HPF1. (PMID: 28190768) Bonfiglio JJ … Matic I (Molecular cell 2017) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for HPF1 Gene

Sources for HPF1 Gene