Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
348654
Gene name Gene Name - the full gene name approved by the HGNC.
GEN1 Holliday junction 5' flap endonuclease
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GEN1
Synonyms (NCBI Gene) Gene synonyms aliases
Gen
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p24.2
Summary Summary of gene provided in NCBI Entrez 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-termin
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 26682650
GO:0000400 Function Four-way junction DNA binding IBA 21873635
GO:0000400 Function Four-way junction DNA binding IDA 26578604, 26682650, 28049850
GO:0000724 Process Double-strand break repair via homologous recombination IMP 23166748
GO:0005654 Component Nucleoplasm TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612449 26881 ENSG00000178295
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast, Breast Cancer, Familial rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
23166748, 24980922, 21399624, 23108668, 27284361, 24076221
Unknown
Disease term Disease name Evidence References Source
Ovarian cancer familial ovarian cancer Conditional KD of IL6 in the OCCA xenograft model delays tumor growth GenCC, CBGDA
Breast Carcinoma hereditary breast carcinoma GenCC
Associations from Text Mining
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