GEN1 - GEN1 Holliday junction 5' flap endonuclease Gene

Also Known as Gen

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 348654

About GEN1

Cytogenetic location: 2p24.2 Genomic coordinates (GRCh38): 2:17,753,278-17,788,946 (from NCBI)

This gene has 8 transcripts (splice variants), 202 orthologues and 2 paralogues. Broad expression in lymph node (RPKM 4.2), testis (RPKM 3.9) and 25 other tissues.

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]

GEN1 Products (2)

mRNA	Protein	Name
NM_001130009.3	NP_001123481.3	flap endonuclease GEN homolog 1
NM_182625.5	NP_872431.5	flap endonuclease GEN homolog 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 5'-flap endonuclease activity	IDA IDA: Inferred from direct assay	26578604	GOA
enables crossover junction DNA endonuclease activity	IDA IDA: Inferred from direct assay	26578604	GOA
enables crossover junction DNA endonuclease activity	IMP IMP: Inferred from mutant phenotype	23108668	GOA
enables four-way junction DNA binding	IDA IDA: Inferred from direct assay	26578604	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	26682650	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	26578604	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	23166748	GOA
involved in positive regulation of mitotic cell cycle spindle assembly checkpoint	IMP IMP: Inferred from mutant phenotype	23108668	GOA
involved in regulation of centrosome duplication	IMP IMP: Inferred from mutant phenotype	23108668	GOA
involved in replication fork processing	IDA IDA: Inferred from direct assay	26578604	GOA
involved in resolution of DNA recombination intermediates	IMP IMP: Inferred from mutant phenotype	24080495	GOA
involved in resolution of mitotic recombination intermediates	IMP IMP: Inferred from mutant phenotype	23108668	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centrosome	IDA IDA: Inferred from direct assay	23166748	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GEN1 Protein Structure

XPG_N

XPG_I

0
200
400
600
800
908 a.a.

Protein Preferred Names	Protein Names
flap endonuclease GEN homolog 1	Gen endonuclease homolog 1

GEN1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83163	GEN1 Antibody (YA2908)	WB	Human, Mouse, Rat
HY-P83163A	GEN1 Antibody (YA2908)(PBS only)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Xeroderma Pigmentosum, Complementation Group G	Xeroderma Pigmentosum, Group G Xeroderma Pigmentosum Vii Xp7 XPG Xeroderma Pigmentosum Group G Xp Group G Xp, Group G Xpgc Xeroderma Pigmentosum, Group G/Cockayne Syndrome Xeroderma Pigmentosum, Type 7 Xeroderma Pigmentosum Complementation Group G XP-G Xp-G/Cs Xeroderma Pigmentosum Group G/Cockayne Syndrome
Optic Atrophy 6	OPA6 Optic Atrophy, Congenital Or Early Infantile, Autosomal Recessive
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-177512	MSC778	Inhibitor	/	Unkown
HY-RS05372	GEN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GEN1	MGD	MGI:2443149
Canis familiaris	GEN1	VGNC	VGNC:41179
Felis catus	GEN1	VGNC	VGNC:62518
Macaca mulatta	GEN1	VGNC	VGNC:72790
Bos taurus	GEN1	VGNC	VGNC:29322
Rattus norvegicus	GEN1	RGD	RGD:1559792
Others	GEN1	NCBI