FEN1 flap structure-specific endonuclease 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FEN1provided by HGNC
Official Full Name: flap structure-specific endonuclease 1provided by HGNC
Primary source: HGNC:HGNC:3650
See related: Ensembl:ENSG00000168496 MIM:600393; AllianceGenome:HGNC:3650
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: MF1; RAD2; FEN-1
Summary: The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. [provided by RefSeq, Jul 2008]
Expression: Broad expression in lymph node (RPKM 16.0), bone marrow (RPKM 13.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (61792911..61797238)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (61781828..61786155)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (61560383..61564710)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

FEN1 Inhibition as a Potential Novel Targeted Therapy against Breast Cancer and the Prognostic Relevance of FEN1.
Title: FEN1 Inhibition as a Potential Novel Targeted Therapy against Breast Cancer and the Prognostic Relevance of FEN1.
Post-translational Modifications by Acyl Groups Regulate FEN1's Activities and Play Essential Roles in Cell Proliferation and DNA Repair.
Title: Post-translational Modifications by Acyl Groups Regulate FEN1's Activities and Play Essential Roles in Cell Proliferation and DNA Repair.
Down-regulation of DNA key protein-FEN1 inhibits OSCC growth by affecting immunosuppressive phenotypes via IFN-gamma/JAK/STAT-1.
Title: Down-regulation of DNA key protein-FEN1 inhibits OSCC growth by affecting immunosuppressive phenotypes via IFN-γ/JAK/STAT-1.
Flap Endonuclease 1 Endonucleolytically Processes RNA to Resolve R-Loops through DNA Base Excision Repair.
Title: Flap Endonuclease 1 Endonucleolytically Processes RNA to Resolve R-Loops through DNA Base Excision Repair.
Flap Endonuclease 1 Endonucleolytically Processes RNA to Resolve R-Loops through DNA Base Excision Repair.
Title: Flap Endonuclease 1 Endonucleolytically Processes RNA to Resolve R-Loops through DNA Base Excision Repair.
Mechanistic investigation of human maturation of Okazaki fragments reveals slow kinetics.
Title: Mechanistic investigation of human maturation of Okazaki fragments reveals slow kinetics.
The Contribution of Flap Endonuclease 1 Genotypes to Oral Cancer Risk.
Title: The Contribution of Flap Endonuclease 1 Genotypes to Oral Cancer Risk.
FEN1 Status and Its Correlation with Clinicopathologic Characteristic in Colorectal Cancer.
Title: FEN1 Status and Its Correlation with Clinicopathologic Characteristic in Colorectal Cancer.
miR-4324 inhibits ovarian cancer progression by targeting FEN1.
Title: miR-4324 inhibits ovarian cancer progression by targeting FEN1.
One-Step Enzymatic Labeling Reveals a Critical Role of O-GlcNAcylation in Cell-Cycle Progression and DNA Damage Response.
Title: One-Step Enzymatic Labeling Reveals a Critical Role of O-GlcNAcylation in Cell-Cycle Progression and DNA Damage Response.

Submit: New GeneRIF Correction See all GeneRIFs (142)

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
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
integrase	gag-pol	FEN-1 is stimulated by HIV-1 Integrase and is hypothesized to play a role in the processing of HIV-1 integration intermediates	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11787 (e-PCR)
- UniSTS:57378

D11S4603 (e-PCR)
- UniSTS:57379

ha3079 (e-PCR)
- UniSTS:515639

SGC35814 (e-PCR)
- UniSTS:49784

D11S2269E (e-PCR)
- UniSTS:2774

RH17908 (e-PCR)
- UniSTS:89066

D1S3426 (e-PCR)
- UniSTS:246

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 5'-3' exonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables 5'-3' exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables 5'-flap endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables 5'-flap endonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables 5'-flap endonuclease activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 5'-flap endonuclease activity	TAS Traceable Author Statement more info
enables DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA-DNA hybrid ribonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA-DNA hybrid ribonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables damaged DNA binding	TAS Traceable Author Statement more info	PubMed
enables double-stranded DNA binding	TAS Traceable Author Statement more info	PubMed
enables double-stranded DNA exodeoxyribonuclease activity	TAS Traceable Author Statement more info	PubMed
enables endonuclease activity	TAS Traceable Author Statement more info	PubMed
enables exonuclease activity	TAS Traceable Author Statement more info	PubMed
enables flap endonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables magnesium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables manganese ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in DNA replication	TAS Traceable Author Statement more info	PubMed
involved_in DNA replication, removal of RNA primer	IDA Inferred from Direct Assay more info	PubMed
involved_in UV protection	TAS Traceable Author Statement more info	PubMed
involved_in base-excision repair, gap-filling	TAS Traceable Author Statement more info
involved_in double-strand break repair	TAS Traceable Author Statement more info	PubMed
involved_in double-strand break repair via homologous recombination	TAS Traceable Author Statement more info
involved_in memory	IEA Inferred from Electronic Annotation more info
involved_in nucleic acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of sister chromatid cohesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance via semi-conservative replication	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	HDA more info	PubMed
colocalizes_with chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: flap endonuclease 1

Names: DNase IV; maturation factor-1

NP_004102.1

EC 3.1.26.4

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.