Gen1 GEN1, Holliday junction 5' flap endonuclease [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gen1provided by MGI
Official Full Name: GEN1, Holliday junction 5' flap endonucleaseprovided by MGI
Primary source: MGI:MGI:2443149
See related: Ensembl:ENSMUSG00000051235 AllianceGenome:MGI:2443149
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 5830483C08Rik
Summary: Predicted to enable several functions, including endodeoxyribonuclease activity; magnesium ion binding activity; and protein homodimerization activity. Predicted to be involved in DNA metabolic process and regulation of cell cycle process. Predicted to act upstream of or within DNA repair. Predicted to be located in centrosome. Is expressed in embryo; nephric duct; and neural tube. Orthologous to human GEN1 (GEN1 Holliday junction 5' flap endonuclease). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver E14 (RPKM 2.5), CNS E11.5 (RPKM 2.1) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 A1.1; 12 5.58 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (11288929..11316030, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (11238928..11266029, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibition of MAPK/ERK pathway activation rescues congenital anomalies of the kidney and urinary tract (CAKUT) in Robo2[PB/+] Gen1[PB/+] mice.
Title: Inhibition of MAPK/ERK pathway activation rescues congenital anomalies of the kidney and urinary tract (CAKUT) in Robo2(PB/+) Gen1(PB/+) mice.
Disruption of Gen1 causes ectopic budding and kidney hypoplasia in mice.
Title: Disruption of Gen1 causes ectopic budding and kidney hypoplasia in mice.
Gen1 mutation caused kidney hypoplasia and defective ureter-bladder connections in mice.
Title: Gen1 mutation caused kidney hypoplasia and defective ureter-bladder connections in mice.
Results revealed an unidentified role of GEN1 in kidney development and suggested its contribution to congenital anomalies of the kidney and urinary tract.
Title: Disruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice.
Study found that a Gen1 mutation alone did not affect DNA repair or meiotic recombination in mice; it caused synthetic lethality when combined with Eme1 mutations at an early embryonic stage. Also, combination of Gen1 and Eme1 mutations makes embryonic fibroblasts more sensitive to DNA damage & mice less capable of meiotic recombination. These results indicate that Gen1 and Eme1 are functionally redundant in mice.
Title: Gen1 and Eme1 Play Redundant Roles in DNA Repair and Meiotic Recombination in Mice.
The results suggest that GEN1 may play an important role in the development of mammary gland.
Title: Expression and localization of GEN1 in mouse mammary epithelial cells.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Transposon induced (1) 1 citation
Gene trapped (1)
Targeted (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236807

NoName (e-PCR)
- UniSTS:236809

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 5'-flap endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables 5'-flap endonuclease activity	ISO Inferred from Sequence Orthology more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables crossover junction DNA endonuclease activity	ISO Inferred from Sequence Orthology more info
enables endonuclease activity	IEA Inferred from Electronic Annotation more info
enables four-way junction DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables four-way junction DNA binding	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nuclease activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitotic cell cycle spindle assembly checkpoint	ISO Inferred from Sequence Orthology more info
involved_in regulation of centrosome duplication	ISO Inferred from Sequence Orthology more info
involved_in replication fork processing	ISO Inferred from Sequence Orthology more info
involved_in resolution of DNA recombination intermediates	ISO Inferred from Sequence Orthology more info
involved_in resolution of mitotic recombination intermediates	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: flap endonuclease GEN homolog 1

Names: Gen homolog 1, endonuclease

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_177331.5 → NP_796305.3 flap endonuclease GEN homolog 1

See identical proteins and their annotated locations for NP_796305.3

Status: VALIDATED

Source sequence(s)

AC104880, BC090653

Consensus CDS

CCDS36403.1

UniProtKB/Swiss-Prot

B2RR04, Q3TYY2, Q5CZW6, Q8BMI4, Q8C0J0

UniProtKB/TrEMBL

A0A1W2P6M6

Related

ENSMUSP00000132098.2, ENSMUST00000166117.4

Conserved Domains (3) summary

cd09869
Location:2 → 206

PIN_GEN1; FEN-like PIN domains of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs

pfam18704
Location:397 → 457

Chromo_2; Chromatin organization modifier domain 2

cl22433
Location:195 → 337

H3TH_StructSpec-5'-nucleases; H3TH domains of structure-specific 5' nucleases (or flap endonuclease-1-like) involved in DNA replication, repair, and recombination

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

11288929..11316030 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017315010.3 → XP_017170499.1 flap endonuclease GEN homolog 1 isoform X5

Conserved Domains (1) summary

pfam18704
Location:2 → 20

Chromo_2; Chromatin organization modifier domain 2
XM_006515041.3 → XP_006515104.1 flap endonuclease GEN homolog 1 isoform X1

See identical proteins and their annotated locations for XP_006515104.1

UniProtKB/Swiss-Prot

B2RR04, Q3TYY2, Q5CZW6, Q8BMI4, Q8C0J0

UniProtKB/TrEMBL

A0A1W2P6M6

Conserved Domains (3) summary

cd09869
Location:2 → 206

PIN_GEN1; FEN-like PIN domains of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs

pfam18704
Location:397 → 457

Chromo_2; Chromatin organization modifier domain 2

cl22433
Location:195 → 337

H3TH_StructSpec-5'-nucleases; H3TH domains of structure-specific 5' nucleases (or flap endonuclease-1-like) involved in DNA replication, repair, and recombination
XM_006515040.4 → XP_006515103.1 flap endonuclease GEN homolog 1 isoform X1

See identical proteins and their annotated locations for XP_006515103.1

UniProtKB/Swiss-Prot

B2RR04, Q3TYY2, Q5CZW6, Q8BMI4, Q8C0J0

UniProtKB/TrEMBL

A0A1W2P6M6

Conserved Domains (3) summary

cd09869
Location:2 → 206

PIN_GEN1; FEN-like PIN domains of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs

pfam18704
Location:397 → 457

Chromo_2; Chromatin organization modifier domain 2

cl22433
Location:195 → 337

H3TH_StructSpec-5'-nucleases; H3TH domains of structure-specific 5' nucleases (or flap endonuclease-1-like) involved in DNA replication, repair, and recombination
XM_006515042.4 → XP_006515105.1 flap endonuclease GEN homolog 1 isoform X2

UniProtKB/TrEMBL

A0A1W2P6M6

Related

ENSMUSP00000151310.2, ENSMUST00000218487.2

Conserved Domains (3) summary

cd09869
Location:1 → 141

PIN_GEN1; FEN-like PIN domains of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs

pfam18704
Location:332 → 392

Chromo_2; Chromatin organization modifier domain 2

cl22433
Location:130 → 272

H3TH_StructSpec-5'-nucleases; H3TH domains of structure-specific 5' nucleases (or flap endonuclease-1-like) involved in DNA replication, repair, and recombination
XM_011243852.3 → XP_011242154.1 flap endonuclease GEN homolog 1 isoform X4

UniProtKB/TrEMBL

A0A1W2P6M6

Conserved Domains (3) summary

pfam18704
Location:296 → 356

Chromo_2; Chromatin organization modifier domain 2

cl22433
Location:94 → 236

H3TH_StructSpec-5'-nucleases; H3TH domains of structure-specific 5' nucleases (or flap endonuclease-1-like) involved in DNA replication, repair, and recombination

cl28905
Location:16 → 105

PIN_SF; PIN (PilT N terminus) domain: Superfamily
XM_011243851.3 → XP_011242153.1 flap endonuclease GEN homolog 1 isoform X3

UniProtKB/TrEMBL

A0A1W2P6M6

Conserved Domains (3) summary

pfam18704
Location:318 → 378

Chromo_2; Chromatin organization modifier domain 2

cl22433
Location:116 → 258

H3TH_StructSpec-5'-nucleases; H3TH domains of structure-specific 5' nucleases (or flap endonuclease-1-like) involved in DNA replication, repair, and recombination

cl28905
Location:2 → 127

PIN_SF; PIN (PilT N terminus) domain: Superfamily
XM_006515039.4 → XP_006515102.1 flap endonuclease GEN homolog 1 isoform X1

See identical proteins and their annotated locations for XP_006515102.1

UniProtKB/Swiss-Prot

B2RR04, Q3TYY2, Q5CZW6, Q8BMI4, Q8C0J0

UniProtKB/TrEMBL

A0A1W2P6M6

Conserved Domains (3) summary

cd09869
Location:2 → 206

PIN_GEN1; FEN-like PIN domains of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs

pfam18704
Location:397 → 457

Chromo_2; Chromatin organization modifier domain 2

cl22433
Location:195 → 337

H3TH_StructSpec-5'-nucleases; H3TH domains of structure-specific 5' nucleases (or flap endonuclease-1-like) involved in DNA replication, repair, and recombination