Mcm8 minichromosome maintenance 8 homologous recombination repair factor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mcm8provided by MGI
Official Full Name: minichromosome maintenance 8 homologous recombination repair factorprovided by MGI
Primary source: MGI:MGI:1913884
See related: Ensembl:ENSMUSG00000027353 AllianceGenome:MGI:1913884
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: 5730432L01Rik
Summary: Predicted to enable several functions, including chromatin binding activity; mismatch repair complex binding activity; and single-stranded DNA binding activity. Predicted to contribute to single-stranded DNA helicase activity. Involved in double-strand break repair via homologous recombination; female gamete generation; and male gamete generation. Part of MCM8-MCM9 complex. Is expressed in several structures, including alimentary system; central nervous system; sensory organ; submandibular gland primordium; and vibrissa. Human ortholog(s) of this gene implicated in primary ovarian insufficiency 10. Orthologous to human MCM8 (minichromosome maintenance 8 homologous recombination repair factor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E11.5 (RPKM 5.2), liver E14 (RPKM 3.0) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 F2; 2 64.75 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (132658061..132686117)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (132816137..132844197)

Chromosome 2 - NC_000068.8 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?

MCM8-mediated mitophagy protects vascular health in response to nitric oxide signaling in a mouse model of Kawasaki disease.
Title: MCM8-mediated mitophagy protects vascular health in response to nitric oxide signaling in a mouse model of Kawasaki disease.
MCM8 interacts with DDX5 to promote R-loop resolution.
Title: MCM8 interacts with DDX5 to promote R-loop resolution.
MCM8- and MCM9 Deficiencies Cause Lifelong Increased Hematopoietic DNA Damage Driving p53-Dependent Myeloid Tumors.
Title: MCM8- and MCM9 Deficiencies Cause Lifelong Increased Hematopoietic DNA Damage Driving p53-Dependent Myeloid Tumors.
MCM8 and MCM9 form a complex and that they coregulate their stability.
Title: MCM8- and MCM9-deficient mice reveal gametogenesis defects and genome instability due to impaired homologous recombination.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (1) 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 ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables MutLbeta complex binding	IEA Inferred from Electronic Annotation more info
enables MutLbeta complex binding	ISO Inferred from Sequence Orthology more info
enables MutSalpha complex binding	IEA Inferred from Electronic Annotation more info
enables MutSalpha complex binding	ISO Inferred from Sequence Orthology more info
enables MutSbeta complex binding	IEA Inferred from Electronic Annotation more info
enables MutSbeta complex binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables forked DNA-dependent helicase activity	IEA Inferred from Electronic Annotation more info
enables four-way junction helicase activity	IEA Inferred from Electronic Annotation more info
enables single-stranded 3'-5' DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables single-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to single-stranded DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA duplex unwinding	IEA Inferred from Electronic Annotation more info
involved_in DNA duplex unwinding	ISO Inferred from Sequence Orthology more info
involved_in DNA replication	IEA Inferred from Electronic Annotation more info
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in female gamete generation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in male gamete generation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to chromatin	IEA Inferred from Electronic Annotation more info
involved_in protein localization to chromatin	ISO Inferred from Sequence Orthology more info
involved_in protein stabilization	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info
involved_in recombinational interstrand cross-link repair	IEA Inferred from Electronic Annotation more info
involved_in recombinational interstrand cross-link repair	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of MCM complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MCM8-MCM9 complex	IDA Inferred from Direct Assay more info	PubMed
part_of MCM8-MCM9 complex	ISO Inferred from Sequence Orthology more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DNA helicase MCM8

Names: DNA replication licensing factor MCM8; minichromosome maintenance deficient 8

NP_001277983.1

EC 3.6.4.12

NP_079952.2

EC 3.6.4.12

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_001291054.2 → NP_001277983.1 DNA helicase MCM8 isoform a

See identical proteins and their annotated locations for NP_001277983.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AL929562

Consensus CDS

CCDS71152.1

UniProtKB/Swiss-Prot

A2AVM8, A2AVM9, Q3UZG5, Q80US2, Q80VI0, Q9CWV1

Related

ENSMUSP00000028831.9, ENSMUST00000028831.15

Conserved Domains (4) summary

cd00009
Location:428 → 586

AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...

COG1241
Location:132 → 830

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]

pfam14551
Location:91 → 216

MCM_N; MCM N-terminal domain

cl21521
Location:676 → 747

PEPcase; Phosphoenolpyruvate carboxylase
NM_025676.5 → NP_079952.2 DNA helicase MCM8 isoform b

See identical proteins and their annotated locations for NP_079952.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.

Source sequence(s)

AL929562

Consensus CDS

CCDS16778.1

UniProtKB/Swiss-Prot

Q9CWV1

Related

ENSMUSP00000066842.6, ENSMUST00000066559.6

Conserved Domains (4) summary

cd00009
Location:400 → 558

AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...

COG1241
Location:104 → 802

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]

pfam14551
Location:63 → 188

MCM_N; MCM N-terminal domain

cl21521
Location:648 → 719

PEPcase; Phosphoenolpyruvate carboxylase