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

Gene ID: 2237, updated on 12-Sep-2021

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
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
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Genomic context

See FEN1 in Genome Data Viewer
Location:
11q12.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (61792911..61797238)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61560383..61564710)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5973 Neighboring gene transmembrane protein 258 Neighboring gene microRNA 611 Neighboring gene fatty acid desaturase 1 Neighboring gene microRNA 1908 Neighboring gene fatty acid desaturase 2 Neighboring gene Sharpr-MPRA regulatory region 6587

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

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
GeneReviews: Not available
Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
GeneReviews: Not available
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
GeneReviews: Not available
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.
GeneReviews: Not available
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
GeneReviews: Not available
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 5'-3' exonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
enables manganese ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in chromosome, telomeric region HDA PubMed 
colocalizes_with chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane HDA 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
PubMed 
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

Preferred Names
flap endonuclease 1
Names
DNase IV
maturation factor-1
NP_004102.1

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.

mRNA and Protein(s)

  1. NM_004111.6NP_004102.1  flap endonuclease 1

    See identical proteins and their annotated locations for NP_004102.1

    Status: REVIEWED

    Source sequence(s)
    BC000323, BP244711
    Consensus CDS
    CCDS8010.1
    UniProtKB/Swiss-Prot
    P39748
    UniProtKB/TrEMBL
    Q6FHX6
    Related
    ENSP00000305480.2, ENST00000305885.3
    Conserved Domains (1) summary
    PTZ00217
    Location:1373
    PTZ00217; flap endonuclease-1; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    61792911..61797238
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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