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GEN1 GEN1 Holliday junction 5' flap endonuclease [ Homo sapiens (human) ]

Gene ID: 348654, updated on 21-Dec-2019

Summary

Official Symbol
GEN1provided by HGNC
Official Full Name
GEN1 Holliday junction 5' flap endonucleaseprovided by HGNC
Primary source
HGNC:HGNC:26881
See related
Ensembl:ENSG00000178295 MIM:612449
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Gen
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-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]
Expression
Broad expression in lymph node (RPKM 4.2), testis (RPKM 3.9) and 25 other tissues See more
Orthologs

Genomic context

See GEN1 in Genome Data Viewer
Location:
2p24.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (17753687..17788946)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (17935152..17966632)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene nascent polypeptide associated complex subunit alpha pseudogene Neighboring gene RAD51 associated protein 2 Neighboring gene visinin like 1 Neighboring gene structural maintenance of chromosomes 6 Neighboring gene uncharacterized LOC105373449 Neighboring gene uncharacterized LOC112267888 Neighboring gene mesogenin 1 Neighboring gene zona pellucida glycoprotein AX, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36312, FLJ40869, DKFZp781F0986

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5'-flap endonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
5'-flap endonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
crossover junction endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
crossover junction endodeoxyribonuclease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
flap endonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
four-way junction DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
four-way junction DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
flap endonuclease GEN homolog 1
Names
Gen endonuclease homolog 1
Holliday junction resolvase

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051292.1 RefSeqGene

    Range
    5172..37234
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130009.3NP_001123481.3  flap endonuclease GEN homolog 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC093731, AC097377
    Consensus CDS
    CCDS1691.1
    Related
    ENSP00000370653.2, ENST00000381254.7
    Conserved Domains (2) summary
    cd09905
    Location:195338
    H3TH_GEN1; H3TH domain of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
    cd09869
    Location:1193
    PIN_GEN1; PIN domain of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
  2. NM_182625.5NP_872431.5  flap endonuclease GEN homolog 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC093731, AC097377
    Consensus CDS
    CCDS1691.1
    Related
    ENSP00000318977.7, ENST00000317402.11

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    17753687..17788946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532822.2XP_011531124.1  flap endonuclease GEN homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_011531124.1

    UniProtKB/Swiss-Prot
    Q17RS7
    Conserved Domains (2) summary
    cd09905
    Location:195338
    H3TH_GEN1; H3TH domain of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
    cd09869
    Location:1193
    PIN_GEN1; PIN domain of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
  2. XM_011532820.2XP_011531122.1  flap endonuclease GEN homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_011531122.1

    UniProtKB/Swiss-Prot
    Q17RS7
    Conserved Domains (2) summary
    cd09905
    Location:195338
    H3TH_GEN1; H3TH domain of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
    cd09869
    Location:1193
    PIN_GEN1; PIN domain of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
  3. XM_006712005.3XP_006712068.1  flap endonuclease GEN homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_006712068.1

    UniProtKB/Swiss-Prot
    Q17RS7
    Conserved Domains (2) summary
    cd09905
    Location:195338
    H3TH_GEN1; H3TH domain of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
    cd09869
    Location:1193
    PIN_GEN1; PIN domain of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
  4. XM_005262613.4XP_005262670.1  flap endonuclease GEN homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_005262670.1

    UniProtKB/Swiss-Prot
    Q17RS7
    Conserved Domains (2) summary
    cd09905
    Location:195338
    H3TH_GEN1; H3TH domain of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
    cd09869
    Location:1193
    PIN_GEN1; PIN domain of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
  5. XM_011532821.2XP_011531123.1  flap endonuclease GEN homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_011531123.1

    UniProtKB/Swiss-Prot
    Q17RS7
    Conserved Domains (2) summary
    cd09905
    Location:195338
    H3TH_GEN1; H3TH domain of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
    cd09869
    Location:1193
    PIN_GEN1; PIN domain of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
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