MCM8 minichromosome maintenance 8 homologous recombination repair factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MCM8provided by HGNC
Official Full Name: minichromosome maintenance 8 homologous recombination repair factorprovided by HGNC
Primary source: HGNC:HGNC:16147
See related: Ensembl:ENSG00000125885 MIM:608187; AllianceGenome:HGNC:16147
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: POF10; C20orf154; dJ967N21.5
Summary: The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
Expression: Broad expression in testis (RPKM 3.9), lymph node (RPKM 1.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p12.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (5950652..5998977)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (5990987..6039282)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (5931298..5979623)

Chromosome 20 - NC_000020.11 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Activity, substrate preference and structure of the HsMCM8/9 helicase.
Title: Activity, substrate preference and structure of the HsMCM8/9 helicase.
Enhancer-driven transcription of MCM8 by E2F4 promotes ATR pathway activation and glioma stem cell characteristics.
Title: Enhancer-driven transcription of MCM8 by E2F4 promotes ATR pathway activation and glioma stem cell characteristics.
Structural study of the N-terminal domain of human MCM8/9 complex.
Title: Structural study of the N-terminal domain of human MCM8/9 complex.
Associations of MCM8 rs3761873 and rs16991617 variants with abnormal uterine bleeding induced by copper intrauterine device.
Title: Associations of MCM8 rs3761873 and rs16991617 variants with abnormal uterine bleeding induced by copper intrauterine device.
Knockdown of MCM8 functions as a strategy to inhibit the development and progression of osteosarcoma through regulating CTGF.
Title: Knockdown of MCM8 functions as a strategy to inhibit the development and progression of osteosarcoma through regulating CTGF.
Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.
Title: Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.
Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature.
Title: Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature.
Identification of mini-chromosome maintenance 8 as a potential prognostic marker and its effects on proliferation and apoptosis in gastric cancer.
Title: Identification of mini-chromosome maintenance 8 as a potential prognostic marker and its effects on proliferation and apoptosis in gastric cancer.
Novel loss-of-function mutation in MCM8 causes premature ovarian insufficiency.
Title: Novel loss-of-function mutation in MCM8 causes premature ovarian insufficiency.
A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation.
Title: A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Premature ovarian failure 10 MedGen: C4225402 OMIM: 612885 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study of early menopause and the combined impact of identified variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host determinants of HIV-1 control in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci at chromosomes 13, 19 and 20 influence age at natural menopause. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MCM8_8114 (e-PCR)
- UniSTS:467768

PMC156728P1 (e-PCR)
- UniSTS:271422

SGC32385 (e-PCR)
- UniSTS:79187

RH102540 (e-PCR)
- UniSTS:96874

RH68660 (e-PCR)
- UniSTS:14963

WI-17957 (e-PCR)
- UniSTS:16639

Gene Ontology Provided by GOA

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 MutLbeta complex binding	IDA Inferred from Direct Assay more info	PubMed
enables MutSalpha complex binding	IDA Inferred from Direct Assay more info	PubMed
enables MutSbeta complex binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA duplex unwinding	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in DNA replication	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell cycle	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	NAS Non-traceable Author Statement more info	PubMed
involved_in female gamete generation	ISS Inferred from Sequence or Structural Similarity more info
involved_in male gamete generation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication	NAS Non-traceable Author Statement more info	PubMed
involved_in protein localization to chromatin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in recombinational interstrand cross-link repair	IMP Inferred from Mutant Phenotype more info	PubMed

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	IPI Inferred from Physical Interaction more info	PubMed
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA helicase MCM8

Names: DNA replication licensing factor MCM8; MCM8 minichromosome maintenance deficient 8; REC homolog; minichromosome maintenance complex component 8

NP_001268449.1

EC 3.6.4.12

NP_001268450.1

EC 3.6.4.12

NP_001268451.1

EC 3.6.4.12

NP_115874.3

EC 3.6.4.12

NP_877954.1

EC 3.6.4.12

XP_016883594.1

EC 3.6.4.12

XP_047296508.1

EC 3.6.4.12

XP_047296509.1

EC 3.6.4.12

XP_047296510.1

EC 3.6.4.12

XP_047296511.1

EC 3.6.4.12

XP_054180111.1

EC 3.6.4.12

XP_054180112.1

EC 3.6.4.12

XP_054180113.1

EC 3.6.4.12

XP_054180114.1

EC 3.6.4.12

XP_054180115.1

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.

Genomic

NG_042869.2 RefSeqGene

Range

5002..53327

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001281520.2 → NP_001268449.1 DNA helicase MCM8 isoform 1

See identical proteins and their annotated locations for NP_001268449.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Both variants 1 and 3 encode the same isoform (1).

Source sequence(s)

AJ439063, AL035461, BC101057

Consensus CDS

CCDS13094.1

UniProtKB/Swiss-Prot

B2RBG7, D3DW08, E7EQU7, Q495R4, Q495R6, Q495R7, Q86US4, Q969I5, Q9UJA3

UniProtKB/TrEMBL

A0A494C100

Related

ENSP00000368174.3, ENST00000378896.7

Conserved Domains (1) summary

COG1241
Location:139 → 837

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
NM_001281521.2 → NP_001268450.1 DNA helicase MCM8 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an in-frame exon and uses an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is longer, compared to isoform 1.

Source sequence(s)

AJ439063, AL035461, BC008830, BC101055

Consensus CDS

CCDS63227.1

UniProtKB/TrEMBL

A0A494C100

Related

ENSP00000368164.2, ENST00000378886.6

Conserved Domains (3) summary

cd00009
Location:475 → 633

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:139 → 877

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

pfam14551
Location:98 → 223

MCM_N; MCM N-terminal domain
NM_001281522.2 → NP_001268451.1 DNA helicase MCM8 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.

Source sequence(s)

AJ439063, AK297806, AL035461, BC008830

Consensus CDS

CCDS63226.1

UniProtKB/Swiss-Prot

Q9UJA3

UniProtKB/TrEMBL

B4DN82

Related

ENSP00000368161.1, ENST00000378883.5

Conserved Domains (2) summary

COG1241
Location:139 → 790

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

pfam14551
Location:98 → 223

MCM_N; MCM N-terminal domain
NM_032485.6 → NP_115874.3 DNA helicase MCM8 isoform 1

See identical proteins and their annotated locations for NP_115874.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform (1). Both variants 1 and 3 encode the same isoform.

Source sequence(s)

AJ439063, AK297806, AL035461, BC008830

Consensus CDS

CCDS13094.1

UniProtKB/Swiss-Prot

B2RBG7, D3DW08, E7EQU7, Q495R4, Q495R6, Q495R7, Q86US4, Q969I5, Q9UJA3

UniProtKB/TrEMBL

A0A494C100

Related

ENSP00000478141.1, ENST00000610722.4

Conserved Domains (1) summary

COG1241
Location:139 → 837

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
NM_182802.3 → NP_877954.1 DNA helicase MCM8 isoform 2

See identical proteins and their annotated locations for NP_877954.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the internal coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AJ439063, AK297806, AL035461, AY158211

Consensus CDS

CCDS13095.1

UniProtKB/Swiss-Prot

Q9UJA3

UniProtKB/TrEMBL

B4DN82

Related

ENSP00000265187.4, ENST00000265187.4

Conserved Domains (3) summary

cd00009
Location:419 → 577

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:139 → 821

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

pfam14551
Location:98 → 223

MCM_N; MCM N-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

5950652..5998977

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440552.1 → XP_047296508.1 DNA helicase MCM8 isoform X2
XM_017028105.2 → XP_016883594.1 DNA helicase MCM8 isoform X1

UniProtKB/TrEMBL

A0A494C100

Conserved Domains (3) summary

cd00009
Location:475 → 633

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:139 → 877

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

pfam14551
Location:98 → 223

MCM_N; MCM N-terminal domain
XM_047440553.1 → XP_047296509.1 DNA helicase MCM8 isoform X3
XM_047440555.1 → XP_047296511.1 DNA helicase MCM8 isoform X5
XM_047440554.1 → XP_047296510.1 DNA helicase MCM8 isoform X4