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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
  • GEN1 Holliday Junction 5 Flap Endonuclease 3
  • Gen Endonuclease Homolog 1 (Drosophila) 2
  • Gen Homolog 1, Endonuclease 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

GeneCards Summary for GEN1 Gene

GEN1 (GEN1, Holliday Junction 5' Flap Endonuclease) is a Protein Coding gene. Diseases associated with GEN1 include Xeroderma Pigmentosum, Group G and Nasopharyngeal Disease. Among its related pathways are DNA Double-Strand Break Repair and Resolution of D-Loop Structures. 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.

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

Genomics for GEN1 Gene

Regulatory Elements for GEN1 Gene

Enhancers for GEN1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GEN1 on UCSC Golden Path with GeneCards custom track

Promoters for GEN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GEN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GEN1 Gene

Chromosome:
2
Start:
17,753,627 bp from pter
End:
17,788,941 bp from pter
Size:
35,315 bases
Orientation:
Plus strand

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

neXtProt entry for GEN1 Gene

Proteomics data for GEN1 Gene at MOPED

Post-translational modifications for GEN1 Gene

  • Ubiquitination at Lys 230
  • Modification sites at PhosphoSitePlus

Other Protein References for GEN1 Gene

No data available for DME Specific Peptides for GEN1 Gene

Domains & Families for GEN1 Gene

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

No data available for Gene Families for GEN1 Gene

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

Gene Ontology (GO) - Molecular Function for GEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008821 crossover junction endodeoxyribonuclease activity IMP 23108668
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

CRISPR Products

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
Jensen Localization Image for GEN1 Gene COMPARTMENTS Subcellular localization image for GEN1 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for GEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome 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

Interacting Proteins for GEN1 Gene

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:0006302 double-strand break repair TAS --
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
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 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:

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 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, MOPED, and MaxQB for GEN1 Gene



SOURCE GeneReport for Unigene cluster for GEN1 Gene Hs.467793

genes like me logo Genes that share expression patterns with GEN1: view

Protein tissue co-expression partners for GEN1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia GEN1 35
  • 85.03 (n)
  • 77.38 (a)
GEN1 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GEN1 35
  • 86.59 (n)
  • 79.49 (a)
GEN1 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gen1 35
  • 79.15 (n)
  • 71.13 (a)
Gen1 16
Gen1 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GEN1 35
  • 99.6 (n)
  • 99.23 (a)
GEN1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gen1 35
  • 79.86 (n)
  • 71.01 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia GEN1 36
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves GEN1 35
  • 58.58 (n)
  • 47.72 (a)
GEN1 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GEN1 36
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii GEN1 36
  • 26 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gen 36
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea crn-1 36
  • 23 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD27 36
  • 21 (a)
OneToMany
YEN1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G01880 35
  • 46.79 (n)
  • 35.5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToOne
Species with no ortholog for GEN1:
  • 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 Sequence Context AA Info Type
rs1812152 - 17,761,508(+) ATCAG(A/C/T)CTCGG reference, missense
VAR_037845 -
VAR_037846 -
VAR_037847 A breast cancer sample
VAR_037848 -

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

Variant ID Type Subtype PubMed ID
dgv1157e1 CNV Complex 17122850
nsv522195 CNV Loss 19592680
dgv4062n71 CNV Gain 21882294
esv2061440 CNV Deletion 18987734
esv2719750 CNV Deletion 23290073

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)

Relevant External Links for GEN1 Gene

Human Gene Mutation Database (HGMD)
GEN1

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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
xeroderma pigmentosum, group g
  • xeroderma pigmentosum, group g/cockayne syndrome
nasopharyngeal disease
  • nasopharyngeal diseases
- elite association - COSMIC cancer census association via MalaCards
Search GEN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GEN1

Genetic Association Database (GAD)
GEN1
Human Genome Epidemiology (HuGE) Navigator
GEN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GEN1
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. Mutation and association analysis of GEN1 in breast cancer susceptibility. (PMID: 20512659) Turnbull C. … Rahman N. (Breast Cancer Res. Treat. 2010) 3 48 67
  2. DmGEN, a novel RAD2 family endo-exonuclease from Drosophila melanogaster. (PMID: 15576351) Ishikawa G. … Sakaguchi K. (Nucleic Acids Res. 2004) 2 3
  3. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T. … Xu J. (Neurobiol. Aging 2015) 3
  4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3
  5. Spatial control of the GEN1 Holliday junction resolvase ensures genome stability. (PMID: 25209024) Chan Y.W. … West S.C. (Nat Commun 2014) 3

Products for GEN1 Gene

Sources for GEN1 Gene

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