Fancm Fanconi anemia, complementation group M [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fancmprovided by MGI
Official Full Name: Fanconi anemia, complementation group Mprovided by MGI
Primary source: MGI:MGI:2442306
See related: Ensembl:ENSMUSG00000055884 AllianceGenome:MGI:2442306
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: D12Ertd364e; C730036B14Rik
Summary: Predicted to enable DNA helicase activity; chromatin binding activity; and four-way junction DNA binding activity. Predicted to be involved in DNA metabolic process and positive regulation of protein monoubiquitination. Predicted to act upstream of or within cellular response to DNA damage stimulus. Predicted to be located in nucleoplasm. Predicted to be part of FANCM-MHF complex and Fanconi anaemia nuclear complex. Is expressed in lung; mandible; and temporal bone petrous part. Human ortholog(s) of this gene implicated in primary ovarian insufficiency 15 and spermatogenic failure 28. Orthologous to human FANCM (FA complementation group M). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 3.1), CNS E14 (RPKM 2.0) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C1; 12 27.21 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (65120884..65178616)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (65074110..65131842)

Chromosome 12 - NC_000078.7 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?

FANCM regulates repair pathway choice at stalled replication forks.
Title: FANCM regulates repair pathway choice at stalled replication forks.
The loss-of-function FANCM pathogenic variants (PV) increased ICL sensitivity in lymphocytes of patients and Fancm(DeltaC/DeltaC) spermatogonia.neither bone marrow failure nor cancer/tumor was detected in all the patients or adult Fancm(DeltaC/DeltaC) mice. These findings revealed male infertility to be a novel phenotype of human patients with a biallelic FANCM PV.
Title: A homozygous FANCM frameshift pathogenic variant causes male infertility.
Suppression of Rad52 expression in combination with FANCM knockout drastically reduces cell and tumor growth, suggesting a synthetic lethality interaction between these two genes.
Title: The concerted roles of FANCM and Rad52 in the protection of common fragile sites.
Fancm(Delta2/Delta2) mice also showed unique features atypical for Fanconi anemia mice, including underrepresentation of female Fancm(Delta2/Delta2) mice and decreased overall and tumor-free survival.
Title: Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M.

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Variation

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Alleles

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

Gene trapped (1)
Targeted (2) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI427100 (e-PCR)
- UniSTS:164501

RH127061 (e-PCR)
- UniSTS:167085

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3'-5' DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA helicase activity	IEA Inferred from Electronic Annotation more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables four-way junction DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables four-way junction helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables helicase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables nuclease activity	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation 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 DNA repair	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via synthesis-dependent strand annealing	IBA Inferred from Biological aspect of Ancestor 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 positive regulation of protein monoubiquitination	ISO Inferred from Sequence Orthology more info
involved_in replication fork processing	ISO Inferred from Sequence Orthology more info
involved_in resolution of meiotic recombination intermediates	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of FANCM-MHF complex	ISO Inferred from Sequence Orthology more info
part_of Fanconi anaemia nuclear complex	ISO Inferred from Sequence Orthology more info
part_of chromatin	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	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: Fanconi anemia group M protein homolog

Names: ATP-dependent RNA helicase FANCM

NP_001351376.1

EC 3.6.4.13

NP_849243.2

EC 3.6.4.13

XP_006515403.1

EC 3.6.4.13

XP_006515404.1

EC 3.6.4.13

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_001364447.1 → NP_001351376.1 Fanconi anemia group M protein homolog isoform 2

Status: VALIDATED

Source sequence(s)

AC159621, AK173211

Conserved Domains (2) summary

pfam16783
Location:1 → 28

FANCM-MHF_bd; FANCM to MHF binding domain

cl27383
Location:1023 → 1258

ERCC4; ERCC4 domain
NM_178912.4 → NP_849243.2 Fanconi anemia group M protein homolog isoform 1

See identical proteins and their annotated locations for NP_849243.2

Status: VALIDATED

Source sequence(s)

AC159621, AK050306, AK050832, AK085388, AK173211

Consensus CDS

CCDS25941.1

UniProtKB/Swiss-Prot

Q69ZF5, Q8BGE5, Q8BKB7, Q8BUA8

UniProtKB/TrEMBL

B2RX10

Related

ENSMUSP00000054797.5, ENSMUST00000058889.5

Conserved Domains (7) summary

COG1111
Location:71 → 610

MPH1; ERCC4-related helicase [Replication, recombination and repair]

COG1948
Location:1764 → 1999

MUS81; ERCC4-type nuclease [Replication, recombination and repair]

cd00046
Location:94 → 236

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

cd12091
Location:287 → 401

FANCM_ID; Insert domain of FANCM and related proteins

pfam00271
Location:457 → 564

Helicase_C; Helicase conserved C-terminal domain

pfam02732
Location:1783 → 1909

ERCC4; ERCC4 domain

pfam16783
Location:657 → 769

FANCM-MHF_bd; FANCM to MHF binding domain

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

65120884..65178616

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006515341.4 → XP_006515404.1 Fanconi anemia group M protein homolog isoform X2

UniProtKB/TrEMBL

B2RX10

Conserved Domains (4) summary

COG1111
Location:71 → 529

MPH1; ERCC4-related helicase [Replication, recombination and repair]

COG1948
Location:1695 → 1930

MUS81; ERCC4-type nuclease [Replication, recombination and repair]

cd18033
Location:77 → 258

DEXDc_FANCM; DEAH-box helicase domain of FANCM

pfam16783
Location:588 → 700

FANCM-MHF_bd; FANCM to MHF binding domain
XM_006515340.5 → XP_006515403.1 Fanconi anemia group M protein homolog isoform X1

UniProtKB/TrEMBL

B2RX10

Conserved Domains (3) summary

COG1111
Location:71 → 610

MPH1; ERCC4-related helicase [Replication, recombination and repair]

COG1948
Location:1720 → 1955

MUS81; ERCC4-type nuclease [Replication, recombination and repair]

pfam16783
Location:657 → 769

FANCM-MHF_bd; FANCM to MHF binding domain