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    HPF1 histone PARylation factor 1 [ Homo sapiens (human) ]

    Gene ID: 54969, updated on 27-Nov-2024

    Summary

    Official Symbol
    HPF1provided by HGNC
    Official Full Name
    histone PARylation factor 1provided by HGNC
    Primary source
    HGNC:HGNC:26051
    See related
    Ensembl:ENSG00000056050 MIM:616614; AllianceGenome:HGNC:26051
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C4orf27
    Summary
    Enables chromatin binding activity; histone binding activity; and protein ADP-ribosyltransferase-substrate adaptor activity. Involved in DNA repair-dependent chromatin remodeling and double-strand break repair. Located in chromatin and nucleus. Is active in site of DNA damage. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 6.3), endometrium (RPKM 6.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HPF1 in Genome Data Viewer
    Location:
    4q33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (169729470..169757944, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (173089586..173118075, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (170650621..170679095, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15793 Neighboring gene NIMA related kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22141 Neighboring gene chloride voltage-gated channel 3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:170581329-170582201 Neighboring gene Sharpr-MPRA regulatory region 12659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22145 Neighboring gene uncharacterized LOC107986240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:170696269-170696769 Neighboring gene prostaglandin E synthase 3 pseudogene 3

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20534, FLJ33423, FLJ42042

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables poly-ADP-D-ribose binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein ADP-ribosyltransferase-substrate adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA repair-dependent chromatin remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in DNA repair-dependent chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in double-strand break repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of protein ADP-ribosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in site of DNA damage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in site of DNA damage IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    histone PARylation factor 1
    Names
    UPF0609 protein C4orf27

    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.

    mRNA and Protein(s)

    1. NM_017867.3NP_060337.2  histone PARylation factor 1

      See identical proteins and their annotated locations for NP_060337.2

      Status: VALIDATED

      Source sequence(s)
      AC106878, AK000541, BM905677, CB141427, DN990093
      Consensus CDS
      CCDS3813.1
      UniProtKB/Swiss-Prot
      Q9NWY4
      Related
      ENSP00000406598.1, ENST00000393381.3
      Conserved Domains (1) summary
      pfam10228
      Location:78328
      DUF2228; Uncharacterized conserved protein (DUF2228)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      169729470..169757944 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      173089586..173118075 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)