Fan1 FANCD2/FANCI-associated nuclease 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fan1provided by MGI
Official Full Name: FANCD2/FANCI-associated nuclease 1provided by MGI
Primary source: MGI:MGI:3045266
See related: Ensembl:ENSMUSG00000033458 AllianceGenome:MGI:3045266
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: mFAN1; Mtmr15; 6030441H18Rik
Summary: Enables 5'-3' exonuclease activity. Predicted to be involved in double-strand break repair via homologous recombination; interstrand cross-link repair; and nucleotide-excision repair. Predicted to be located in cytosol; intercellular bridge; and nucleoplasm. Predicted to be active in nucleus. Is expressed in ductus deferens; epididymis; and testis. Used to study karyomegalic interstitial nephritis. Human ortholog(s) of this gene implicated in karyomegalic interstitial nephritis. Orthologous to human FAN1 (FANCD2 and FANCI associated nuclease 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 1.9), genital fat pad adult (RPKM 1.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 C; 7 34.64 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (63994627..64023874, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (64345385..64374128, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

FAN1's protection against CGG repeat expansion requires its nuclease activity and is FANCD2-independent.
Title: FAN1's protection against CGG repeat expansion requires its nuclease activity and is FANCD2-independent.
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.
Title: Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.
FAN1 plays important role in protecting against somatic expansions but is either not involved in protecting against intergenerational repeat expansions or is redundant with other related enzymes.
Title: FAN1 protects against repeat expansions in a Fragile X mouse model.
Our data show that Fan1 is involved in the physiologic response of kidney tubular cells to DNA damage, which contributes to the pathogenesis of chronic kidney disease. Moreover, Fan1(-/-) mice provide a new model with which to study the pathomechanisms of chronic kidney disease
Title: A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis.
ubiquitin-binding zinc finger (UBZ) domain of FAN1, which is needed for interaction with FANCD2, is not required for the initial rapid recruitment of FAN1 to ICLs or for its role in DNA ICL resistance.
Title: Fan1 deficiency results in DNA interstrand cross-link repair defects, enhanced tissue karyomegaly, and organ dysfunction.
Fan1 nuclease activity promotes ICL repair in a manner that controls ploidy
Title: Karyomegalic interstitial nephritis and DNA damage-induced polyploidy in Fan1 nuclease-defective knock-in mice.
Fan1 recruitment enables processing of stalled forks that is essential for genome stability and health.
Title: Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (6) 1 citation
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 5'-3' exonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables 5'-3' exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables 5'-3' exonuclease activity	ISO Inferred from Sequence Orthology more info
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 5'-flap endonuclease activity	ISS Inferred from Sequence or Structural Similarity more info
enables flap-structured DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables flap-structured DNA binding	ISO Inferred from Sequence Orthology more info
enables flap-structured DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphodiesterase I activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin-modified protein reader activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin-modified protein reader activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in DNA repair	ISO Inferred from Sequence Orthology more info
involved_in DNA repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in interstrand cross-link repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in interstrand cross-link repair	ISO Inferred from Sequence Orthology more info
involved_in interstrand cross-link repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in nucleotide-excision repair	ISO Inferred from Sequence Orthology more info
involved_in nucleotide-excision repair	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intercellular bridge	IEA Inferred from Electronic Annotation more info
located_in intercellular bridge	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: fanconi-associated nuclease 1

Names: coiled-coil domain-containing protein MTMR15; myotubularin-related protein 15

NP_808561.2

EC 3.1.4.1

XP_006541021.1

EC 3.1.4.1

XP_006541022.1

EC 3.1.4.1

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.