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

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, Dec 2024]
Expression: Ubiquitous expression in brain (RPKM 6.3), endometrium (RPKM 6.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dispensability of HPF1 for cellular removal of DNA single-strand breaks.
Title: Dispensability of HPF1 for cellular removal of DNA single-strand breaks.
Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition.
Title: Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition.
HPF1 and nucleosomes mediate a dramatic switch in activity of PARP1 from polymerase to hydrolase.
Title: HPF1 and nucleosomes mediate a dramatic switch in activity of PARP1 from polymerase to hydrolase.
HPF1 dynamically controls the PARP1/2 balance between initiating and elongating ADP-ribose modifications.
Title: HPF1 dynamically controls the PARP1/2 balance between initiating and elongating ADP-ribose modifications.
Dual function of HPF1 in the modulation of PARP1 and PARP2 activities.
Title: Dual function of HPF1 in the modulation of PARP1 and PARP2 activities.
The regulatory landscape of the human HPF1- and ARH3-dependent ADP-ribosylome.
Title: The regulatory landscape of the human HPF1- and ARH3-dependent ADP-ribosylome.
Serine-linked PARP1 auto-modification controls PARP inhibitor response.
Title: Serine-linked PARP1 auto-modification controls PARP inhibitor response.
HPF1 remodels the active site of PARP1 to enable the serine ADP-ribosylation of histones.
Title: HPF1 remodels the active site of PARP1 to enable the serine ADP-ribosylation of histones.
Bridging of nucleosome-proximal DNA double-strand breaks by PARP2 enhances its interaction with HPF1.
Title: Bridging of nucleosome-proximal DNA double-strand breaks by PARP2 enhances its interaction with HPF1.
Bridging of DNA breaks activates PARP2-HPF1 to modify chromatin.
Title: Bridging of DNA breaks activates PARP2-HPF1 to modify chromatin.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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Preferred Names: histone PARylation factor 1

Names: UPF0609 protein C4orf27

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.