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 and histone binding activity. Involved in double-strand break repair; peptidyl-serine ADP-ribosylation; and regulation of protein modification process. Located in chromatin; nucleus; and site of DNA damage. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (169729470..169757944, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (173089586..173118075, complement)
105.20220307	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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
HPF1 completes the PARP active site for DNA damage-induced ADP-ribosylation; as HPF1 forms a joint active site with PARP1 or PARP2, our data implicate HPF1 as an important determinant of the response to clinical PARP inhibitors
Title: HPF1 completes the PARP active site for DNA damage-induced ADP-ribosylation.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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 studies and variants in dbVar

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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	IBA Inferred from Biological aspect of Ancestor more info
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	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein ADP-ribosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of protein ADP-ribosylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of 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.