FEN1 - flap structure-specific endonuclease 1 Gene

Also Known as MF1; RAD2; FEN-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2237

About FEN1

Cytogenetic location: 11q12.2 Genomic coordinates (GRCh38): 11:61,792,911-61,797,238 (from NCBI)

This gene has 3 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 38 phenotypes. Broad expression in lymph node (RPKM 16.0), bone marrow (RPKM 13.0) and 24 other tissues.

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]

FEN1 Products (1)

mRNA Protein Name
NM_004111.6 NP_004102.1 flap endonuclease 1
Molecular Function GO Annotation Evidence References Source
enables 5'-3' exonuclease activity IDA
IDA: Inferred from direct assay
7961795 GOA
enables 5'-flap endonuclease activity IDA
IDA: Inferred from direct assay
18995831 GOA
enables 5'-flap endonuclease activity IMP
IMP: Inferred from mutant phenotype
8621570 GOA
enables DNA binding IMP
IMP: Inferred from mutant phenotype
11986308 GOA
enables RNA-DNA hybrid ribonuclease activity IDA
IDA: Inferred from direct assay
7961795 GOA
enables flap endonuclease activity IDA
IDA: Inferred from direct assay
18499658 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9305916 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA replication, removal of RNA primer IDA
IDA: Inferred from direct assay
18995831 GOA
involved in nucleic acid metabolic process IDA
IDA: Inferred from direct assay
18499658 GOA
involved in positive regulation of sister chromatid cohesion IMP
IMP: Inferred from mutant phenotype
18499658 GOA
Cellular Component GO Annotation Evidence References Source
colocalizes with chromosome, telomeric region IDA
IDA: Inferred from direct assay
24270157 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
18995831 GOA
located in nucleus IDA
IDA: Inferred from direct assay
7961795 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
25378300 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FEN1 Protein Structure

XPG_N

XPG_N: XPG N-terminal domain (1 - 107)

XPG_I

XPG_I: XPG I-region (147 - 233)

  • 0
  • 100
  • 200
  • 300
  • 380 a.a.
Protein Preferred Names Protein Names

flap endonuclease 1

  • DNase IV

FEN1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FEN1 P39748 MUS81 Homo sapiens Q96NY9 22551069
Intra
FEN1 P39748 PCNA Homo sapiens P12004 26751069
Intra
FEN1 P39748 PCNA Homo sapiens P12004 33961781
Intra
FEN1 P39748 PCNA Homo sapiens P12004 18692475
Intra
FEN1 P39748 PCNA Homo sapiens P12004 26496610
Intra
FEN1 P39748 PCNA Homo sapiens P12004 28514442
Intra
FEN1 P39748 PCNA Homo sapiens P12004
SLC
31467278
Intra
FEN1 P39748 PCNA Homo sapiens P12004 26030842
Intra
FEN1 P39748 PCNA Homo sapiens P12004 26030842
Intra
FEN1 P39748 PCNA Homo sapiens P12004 31515488
Intra
FEN1 P39748 PCNA Homo sapiens P12004 29997244
Intra
FEN1 P39748 PCNA Homo sapiens P12004 31467278
Intra
FEN1 P39748 PCNA Homo sapiens P12004 14657243
Intra
FEN1 P39748 WRN Homo sapiens Q14191 14657243
Intra
FEN1 P39748 WRN Homo sapiens Q14191
IF
14657243
Intra
FEN1 P39748 WRN Homo sapiens Q14191 14657243
Intra
FEN1 P39748 WRN Homo sapiens Q14191 14688284
Intra
FEN1 P39748 BLM Homo sapiens P54132 14688284
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FEN1 Proteins

Cat. No. Product Name Accession Purity
HY-P70348 Flap endonuclease 1/FEN-1 Protein, Human P39748-1 (M1-K380) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P700010 Flap endonuclease 1/FEN-1 Protein, Human (His, Myc) P39748-1 (M1-K380) ≥ 95%, as determined by reducing SDS-PAGE.

FEN1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80669 FEN1 Antibody (YA765) WB, IP Human, Mouse, Rat
HY-P80669A FEN1 Antibody (YA765)(PBS only) WB, IP Human, Mouse, Rat
HY-P85602 FEN1 Antibody (YA5294) WB, ICC/IF Human, Mouse, Rat, Monkey, Hamster
HY-P85603 FEN1 Antibody (YA5295) WB, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Werner Syndrome
  • Werner'S Syndrome

  • WRN

  • Adult Progeria

  • Ws

  • Adult Premature Ageing Syndrome

  • Adult Premature Aging Syndrome

  • Werners Syndrome

Xeroderma Pigmentosum, Variant Type
  • Xeroderma Pigmentosum

  • XPV

  • Xeroderma Pigmentosum Variant Type

  • Xeroderma Pigmentosum With Normal Dna Repair Rates

  • Photosensitivity With Defective Dna Synthesis

  • Xp

  • De Sanctis-Cacchione Syndrome

  • Desanctis-Cacchione Syndrome

  • Xeroderma Pigmentosa

  • Xerodermic Idiocy

  • Xeroderma Pigmentosum Variant

  • Xp - [Xeroderma Pigmentosum]

  • Atrophoderma Pigmentosum

Vitelliform Macular Dystrophy
  • Best Disease

  • Juvenile-Onset Vitelliform Macular Dystrophy

  • Macular Dystrophy, Vitelliform

  • Best Macular Dystrophy

  • Vitelliform Dystrophy

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

Bloom Syndrome
  • BLM

  • Bs

  • Bls

  • Bloom-Torre-Machacek Syndrome

  • Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1

  • Mgrisce1

  • Congenital Telangiectatic Erythema

  • Congenital Telangiectatic Erythema Syndrome

  • Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability

  • Bloom'S Syndrome

  • Bsyn

Xeroderma Pigmentosum, Complementation Group G
  • Xeroderma Pigmentosum, Group G

  • Xeroderma Pigmentosum Vii

  • Xp7

  • XPG

  • Xeroderma Pigmentosum Group G

  • Xp Group G

  • Xp, Group G

  • Xpgc

  • Xeroderma Pigmentosum, Group G/Cockayne Syndrome

  • Xeroderma Pigmentosum, Type 7

  • Xeroderma Pigmentosum Complementation Group G

  • XP-G

  • Xp-G/Cs

  • Xeroderma Pigmentosum Group G/Cockayne Syndrome

Cockayne Syndrome
  • Cockayne'S Syndrome

  • Dwarfism-Retinal Atrophy-Deafness Syndrome

  • Neill-Dingwall Syndrome

  • Progeria-Like Syndrome

  • Progeroid Nanism

  • Cs

Huntington Disease
  • Huntington'S Disease

  • Huntington Chorea

  • Huntington'S Chorea

  • HD

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea

Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
  • Aoa1

  • Ataxia-Telangiectasia-Like Disorder

  • EAOH

  • Eoca-Ha

  • Ataxia With Oculomotor Apraxia Type 1

  • Ataxia-Oculomotor Apraxia 1

  • Ataxia-Oculomotor Apraxia Syndrome

  • AOA

  • Ataxia-Telangiectasia-Like Syndrome

  • Ataxia-Oculomotor Apraxia Type 1

  • Ataxia With Oculomotor Apraxia

  • Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia

  • Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia

  • Early-Onset Cerebellar Ataxia With Hypoalbuminemia

  • Adult Onset Ataxia With Oculomotor Apraxia

  • Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia

  • Scan2

  • Scar1

  • Spinocerebellar Ataxia With Axonal Neuropathy Type 2

  • Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1

  • Atld

  • Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia

  • Cerebellar Ataxia Early-Onset With Hypoalbuminemia

  • Ataxia-Oculomotor Apraxia

  • Spinocerebellar Ataxia, Autosomal Recessive 1

Rothmund-Thomson Syndrome, Type 2
  • Rothmund-Thomson Syndrome

  • Rts

  • RTS2

  • Poikiloderma Of Rothmund-Thomson

  • Rothmund-Thomson Syndrome Type 2

  • Congenital Poikiloderma

  • Poikiloderma Congenitale

  • Poikiloderma Atrophicans And Cataract

  • Poikiloderma Congenitale Of Rothmund-Thomson

  • Poikiloderma Of Rothmund-Thomson Type 2

  • Rothmund-Thomson Syndrome 2

  • Erythrokeratodermia Variabilis

Spinocerebellar Ataxia Type 1 With Axonal Neuropathy
  • Scan1

  • Spinocerebellar Ataxia With Axonal Neuropathy Type 1

  • Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy

  • Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy

  • Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy

  • Spinocerebellar Ataxia With Axonal Neuropathy

  • Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy

  • Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy

Baller-Gerold Syndrome
  • BGS

  • Craniosynostosis With Radial Defects

  • Craniosynostosis-Radial Aplasia Syndrome

  • Craniosynostosis Radial Aplasia Syndrome

Developmental And Epileptic Encephalopathy 75
  • DEE75

  • Epileptic Encephalopathy, Early Infantile, 75

  • Eiee75

  • Developmental And Epileptic Encephalopathy, 75

  • Early Infantile Epileptic Encephalopathy 75

Cockayne Syndrome B
  • Cockayne Syndrome Type 2

  • Cockayne Syndrome, Type B

  • Cockayne Syndrome Type Ii

  • CSB

  • Cockayne Syndrome 2

  • Cockayne Syndrome Type B

  • Ckn2

  • Cockayne Syndrome, Type Ii

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Trichothiodystrophy
  • Ttd

  • Amish Brittle Hair Syndrome

  • Bids Syndrome

  • Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

  • Ibids

  • Pibids

  • Trichothiodystrophy Syndromes

Sezary'S Disease
  • Sezary Syndrome

  • Sézary Syndrome

  • Sezary'S Lymphoma

  • Sezary Disease

  • Sezary Erythroderma

  • Sezary Lymphoma

Fuchs' Endothelial Dystrophy
  • Fuchs Endothelial Corneal Dystrophy

  • Fuchs Endothelial Dystrophy

  • Fuchs Dystrophy

  • Fced

  • Fuchs' Corneal Dystrophy

  • Fuchs' Endothelial Corneal Dystrophy

  • Fuchs Atrophy

  • Fuchs Corneal Dystrophy

  • Endoepithelial Corneal Dystrophy

  • Fecd

  • Late Hereditary Endothelial Dystrophy

  • Corneal Dystrophy, Fuchs Endothelial

  • Dystrophy, Corneal, Fuchs Endothelial

  • Corneal Dystrophy, Fuchs' Endothelial, 1

Aplastic Anemia
  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos

Lynch Syndrome
  • Hereditary Nonpolyposis Colon Cancer

  • Hereditary Nonpolyposis Colorectal Cancer

  • Hereditary Nonpolyposis Colorectal Carcinoma

  • Hereditary Nonpolyposis Colorectal Neoplasms

  • Familial Nonpolyposis Colon Cancer

  • Hnpcc

  • Coca 1

  • Hereditary Defective Mismatch Repair Syndrome

  • Hereditary Non-Polyposis Colon Cancer

  • Hereditary Non-Polyposis Colon Cancer Syndrome

  • Hereditary Non-Polyposis Colorectal Cancer

  • Hereditary Non-Polyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colon Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Neoplasm

  • Hnpcc - Hereditary Nonpolyposis Colon Cancer

  • Cancer Family Syndrome

  • Familial Nonpolyposis Colorectal Cancer

  • Colon Cancer, Familial Nonpolyposis

  • Colorectal Neoplasms, Hereditary Nonpolyposis

  • Cancer, Colorectal, Nonpolyposis, Hereditary

  • Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris FEN1 VGNC VGNC:40817
Mus musculus FEN1 MGD MGI:102779
Felis catus FEN1 VGNC VGNC:82046
Macaca mulatta FEN1 VGNC VGNC:72635
Rattus norvegicus FEN1 RGD RGD:621821
Bos taurus FEN1 VGNC VGNC:28947
Others FEN1 NCBI