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Aliases for GEN1 Gene

Aliases for GEN1 Gene

  • GEN1, Holliday Junction 5' Flap Endonuclease 2
  • GEN1, Holliday Junction 5 Flap Endonuclease 2 3 5
  • Holliday Junction Resolvase 2 3
  • Gen Endonuclease Homolog 1 (Drosophila) 2
  • Flap Endonuclease GEN Homolog 1 3
  • Gen Endonuclease Homolog 1 3
  • EC 3.1.-.- 4
  • Gen 3

External Ids for GEN1 Gene

Previous GeneCards Identifiers for GEN1 Gene

  • GC02P017798
  • GC02P017935

Summaries for GEN1 Gene

Entrez Gene Summary for GEN1 Gene

  • This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

GeneCards Summary for GEN1 Gene

GEN1 (GEN1, Holliday Junction 5' Flap Endonuclease) is a Protein Coding gene. Diseases associated with GEN1 include Xeroderma Pigmentosum, Complementation Group G and Tick-Borne Relapsing Fever. Among its related pathways are DNA Double-Strand Break Repair and Homologous DNA Pairing and Strand Exchange. Gene Ontology (GO) annotations related to this gene include nuclease activity and crossover junction endodeoxyribonuclease activity. An important paralog of this gene is FEN1.

UniProtKB/Swiss-Prot for GEN1 Gene

  • Endonuclease which resolves Holliday junctions by the introduction of symmetrically related cuts across the junction point, to produce nicked duplex products in which the nicks can be readily ligated. Four-way DNA intermediates, also known as Holliday junctions, are formed during homologous recombination and DNA repair, and their resolution is necessary for proper chromosome segregation.

Additional gene information for GEN1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GEN1 Gene

Genomics for GEN1 Gene

GeneHancer (GH) Regulatory Elements for GEN1 Gene

Promoters and enhancers for GEN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I017749 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 574.9 -0.7 -717 5.9 PKNOX1 SMAD1 ZFP64 ARID4B SIN3A YY1 SLC30A9 E2F8 ZNF207 ZNF143 GEN1 SMC6 GC02M017752 PIR36041
GH02I017759 Promoter 0.7 EPDnew 550.4 +6.1 6092 0.1 CEBPG HNF4A YY1 GEN1 GC02M017752 SMC6
GH02I017811 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 19.1 +60.7 60696 5.4 RB1 BMI1 YBX1 BATF IRF4 RFX5 ATF7 ETV6 BCLAF1 IKZF2 MSGN1 GEN1 GC02M017816 LOC105373449
GH02I017756 Enhancer 1.1 Ensembl ENCODE 28.7 +3.9 3870 2.2 ELF3 FOXA2 ARID4B RAD21 ELK1 ATF7 FOS THAP11 MIXL1 CEBPB GEN1 GC02M017752 SMC6
GH02I017798 Enhancer 1.1 Ensembl ENCODE dbSUPER 28.7 +46.3 46329 3.4 SOX13 SAP130 ARID4B EBF1 FEZF1 RELA FOXK2 ATF7 PRDM10 RFX1 SMC6 LOC105373449 GEN1 GC02M017752
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GEN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GEN1 gene promoter:

Genomic Locations for GEN1 Gene

Genomic Locations for GEN1 Gene
chr2:17,753,627-17,788,941
(GRCh38/hg38)
Size:
35,315 bases
Orientation:
Plus strand
chr2:17,935,125-17,966,632
(GRCh37/hg19)

Genomic View for GEN1 Gene

Genes around GEN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GEN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GEN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GEN1 Gene

Proteins for GEN1 Gene

  • Protein details for GEN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q17RS7-GEN_HUMAN
    Recommended name:
    Flap endonuclease GEN homolog 1
    Protein Accession:
    Q17RS7
    Secondary Accessions:
    • Q17RS9
    • Q6ZN37

    Protein attributes for GEN1 Gene

    Size:
    908 amino acids
    Molecular mass:
    102884 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GEN1 Gene

neXtProt entry for GEN1 Gene

Post-translational modifications for GEN1 Gene

  • Ubiquitination at isoforms=230
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GEN1 Gene

Domains & Families for GEN1 Gene

Gene Families for GEN1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GEN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q17RS7

UniProtKB/Swiss-Prot:

GEN_HUMAN :
  • Belongs to the XPG/RAD2 endonuclease family. GEN subfamily.
Family:
  • Belongs to the XPG/RAD2 endonuclease family. GEN subfamily.
genes like me logo Genes that share domains with GEN1: view

Function for GEN1 Gene

Molecular function for GEN1 Gene

UniProtKB/Swiss-Prot Function:
Endonuclease which resolves Holliday junctions by the introduction of symmetrically related cuts across the junction point, to produce nicked duplex products in which the nicks can be readily ligated. Four-way DNA intermediates, also known as Holliday junctions, are formed during homologous recombination and DNA repair, and their resolution is necessary for proper chromosome segregation.

Enzyme Numbers (IUBMB) for GEN1 Gene

Phenotypes From GWAS Catalog for GEN1 Gene

Gene Ontology (GO) - Molecular Function for GEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004520 endodeoxyribonuclease activity TAS --
genes like me logo Genes that share ontologies with GEN1: view
genes like me logo Genes that share phenotypes with GEN1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GEN1

miRNA for GEN1 Gene

miRTarBase miRNAs that target GEN1

Clone Products

  • Addgene plasmids for GEN1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GEN1 Gene

Localization for GEN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GEN1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GEN1 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005813 centrosome IDA 23166748
GO:0070062 extracellular exosome HDA,IDA 23376485
genes like me logo Genes that share ontologies with GEN1: view

Pathways & Interactions for GEN1 Gene

genes like me logo Genes that share pathways with GEN1: view

Gene Ontology (GO) - Biological Process for GEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IMP 23166748
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0010824 regulation of centrosome duplication IMP 23108668
GO:0071139 resolution of recombination intermediates IMP 24080495
genes like me logo Genes that share ontologies with GEN1: view

No data available for SIGNOR curated interactions for GEN1 Gene

Drugs & Compounds for GEN1 Gene

(1) Drugs for GEN1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
genes like me logo Genes that share compounds with GEN1: view

Transcripts for GEN1 Gene

Unigene Clusters for GEN1 Gene

Gen endonuclease homolog 1 (Drosophila):
Representative Sequences:

Clone Products

  • Addgene plasmids for GEN1

Alternative Splicing Database (ASD) splice patterns (SP) for GEN1 Gene

No ASD Table

Relevant External Links for GEN1 Gene

GeneLoc Exon Structure for
GEN1
ECgene alternative splicing isoforms for
GEN1

Expression for GEN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GEN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GEN1 Gene

This gene is overexpressed in Esophagus (56.1) and Salivary gland (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GEN1 Gene



Protein tissue co-expression partners for GEN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GEN1 Gene:

GEN1

SOURCE GeneReport for Unigene cluster for GEN1 Gene:

Hs.467793

Evidence on tissue expression from TISSUES for GEN1 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with GEN1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GEN1 Gene

Orthologs for GEN1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GEN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GEN1 33 34
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia GEN1 33 34
  • 86.59 (n)
cow
(Bos Taurus)
Mammalia GEN1 33 34
  • 85.03 (n)
rat
(Rattus norvegicus)
Mammalia Gen1 33
  • 79.86 (n)
mouse
(Mus musculus)
Mammalia Gen1 33 16 34
  • 79.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GEN1 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves GEN1 33 34
  • 58.58 (n)
lizard
(Anolis carolinensis)
Reptilia GEN1 34
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii GEN1 34
  • 26 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gen 34
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea crn-1 34
  • 23 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD27 34
  • 21 (a)
OneToMany
YEN1 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G01880 33
  • 46.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToOne
Species where no ortholog for GEN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GEN1 Gene

ENSEMBL:
Gene Tree for GEN1 (if available)
TreeFam:
Gene Tree for GEN1 (if available)

Paralogs for GEN1 Gene

Paralogs for GEN1 Gene

(2) SIMAP similar genes for GEN1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with GEN1: view

Variants for GEN1 Gene

Sequence variations from dbSNP and Humsavar for GEN1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs144389157 likely-benign, Hereditary cancer-predisposing syndrome 17,757,644(+) A/T intron_variant
rs145421265 likely-benign, Hereditary cancer-predisposing syndrome 17,774,596(+) A/G intron_variant
rs186660424 likely-benign, Hereditary cancer-predisposing syndrome 17,771,175(+) A/T intron_variant
rs190514572 likely-benign, Hereditary cancer-predisposing syndrome 17,758,468(+) T/C intron_variant
rs191898243 likely-benign, Hereditary cancer-predisposing syndrome 17,771,098(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GEN1 Gene

Variant ID Type Subtype PubMed ID
dgv1872n106 CNV deletion 24896259
esv2061440 CNV deletion 18987734
esv2719750 CNV deletion 23290073
esv2759031 CNV gain 17122850
esv3589949 CNV gain 21293372
esv3891603 CNV gain 25118596
nsv1135080 CNV deletion 24896259
nsv522195 CNV loss 19592680
nsv997502 CNV gain 25217958

Variation tolerance for GEN1 Gene

Residual Variation Intolerance Score: 65.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.69; 82.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GEN1 Gene

Human Gene Mutation Database (HGMD)
GEN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GEN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GEN1 Gene

Disorders for GEN1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GEN1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
xeroderma pigmentosum, complementation group g
  • xpg
tick-borne relapsing fever
  • relapsing fever, tick-borne
- elite association - COSMIC cancer census association via MalaCards
Search GEN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GEN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GEN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GEN1 Gene

Publications for GEN1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Mutation and association analysis of GEN1 in breast cancer susceptibility. (PMID: 20512659) Turnbull C … Rahman N (Breast cancer research and treatment 2010) 3 44 58
  3. Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk. (PMID: 20610542) Liu Y … Bondy ML (Carcinogenesis 2010) 3 44 58
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  5. Identification of Holliday junction resolvases from humans and yeast. (PMID: 19020614) Ip SC … West SC (Nature 2008) 3 4 58

Products for GEN1 Gene

  • Addgene plasmids for GEN1

Sources for GEN1 Gene

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