Gene Gene information from NCBI Gene database.
Entrez ID 348654
Gene name GEN1 Holliday junction 5' flap endonuclease
Gene symbol GEN1
Synonyms (NCBI Gene)
Gen
Chromosome 2
Chromosome location 2p24.2
Summary 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-termin
miRNA miRNA information provided by mirtarbase database.
298
miRTarBase ID miRNA Experiments Reference
MIRT024641 hsa-miR-215-5p Microarray 19074876
MIRT026735 hsa-miR-192-5p Microarray 19074876
MIRT709531 hsa-miR-4668-3p HITS-CLIP 19536157
MIRT709530 hsa-miR-605-5p HITS-CLIP 19536157
MIRT709529 hsa-miR-5584-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 26682650
GO:0000400 Function Four-way junction DNA binding IBA
GO:0000400 Function Four-way junction DNA binding IDA 26578604, 26682650, 28049850
GO:0000400 Function Four-way junction DNA binding IEA
GO:0000724 Process Double-strand break repair via homologous recombination IMP 23166748
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612449 26881 ENSG00000178295
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q17RS7
Protein name Flap endonuclease GEN homolog 1 (EC 3.1.-.-)
Protein function Endonuclease which resolves Holliday junctions (HJs) 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
PDB 5T9J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00752 XPG_N 1 96 XPG N-terminal domain Family
PF00867 XPG_I 122 208 XPG I-region Family
PF18704 Chromo_2 398 458 Chromatin organization modifier domain 2 Domain
Sequence
MGVNDLWQILEPVKQHIPLRNLGGKTIAVDLSLWVCEAQTVKKMMGSVMKPHLRNLFFRI
SYLTQMDVKLVFVMEGEPPKLKADVISKRNQSRYGS
SGKSWSQKTGRSHFKSVLRECLHM
LECLGIPWVQAAGEAEAMCAYLNAGGHVDGCLTNDGDTFLYGAQTVYRNFTMNTKDPHVD
CYTMSSIKSKLGLDRDALVGLAILLGCD
YLPKGVPGVGKEQALKLIQILKGQSLLQRFNR
WNETSCNSSPQLLVTKKLAHCSVCSHPGSPKDHERNGCRLCKSDKYCEPHDYEYCCPCEW
HRTEHDRQLSEVENNIKKKACCCEGFPFHEVIQEFLLNKDKLVKVIRYQRPDLLLFQRFT
LEKMEWPNHYACEKLLVLLTHYDMIERKLGSRNSNQLQPIRIVKTRIRNGVHCFEIEWEK
PEHYAMEDKQHGEFALLTIEEESLFEAAYPEIVAVYQK
QKLEIKGKKQKRIKPKENNLPE
PDEVMSFQSHMTLKPTCEIFHKQNSKLNSGISPDPTLPQESISASLNSLLLPKNTPCLNA
QEQFMSSLRPLAIQQIKAVSKSLISESSQPNTSSHNISVIADLHLSTIDWEGTSFSNSPA
IQRNTFSHDLKSEVESELSAIPDGFENIPEQLSCESERYTANIKKVLDEDSDGISPEEHL
LSGITDLCLQDLPLKERIFTKLSYPQDNLQPDVNLKTLSILSVKESCIANSGSDCTSHLS
KDLPGIPLQNESRDSKILKGDQLLQEDYKVNTSVPYSVSNTVVKTCNVRPPNTALDHSRK
VDMQTTRKILMKKSVCLDRHSSDEQSAPVFGKAKYTTQRMKHSSQKHNSSHFKESGHNKL
SSPKIHIKETEQCVRSYETAENEESCFPDSTKSSLSSLQCHKKENNSGTCLDSPLPLRQR
LKLRFQST
Sequence length 908
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Resolution of D-loop Structures through Holliday Junction Intermediates
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
62
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs186660424 RCV005893823
Breast neoplasm Benign; Likely benign rs57936182 RCV001265634
Cervical cancer Likely benign rs186660424 RCV005893825
Cholangiocarcinoma Benign rs2052745 RCV005922396
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 26201965, 40649769
Drug Related Side Effects and Adverse Reactions Associate 35962345
Endometriosis Associate 38013616
Leukemia Lymphocytic Chronic B Cell Stimulate 26970083
Mullerian aplasia Associate 35361250
Neoplasms Associate 28090586
Prostatic Neoplasms Associate 37733366