MCM10 minichromosome maintenance 10 replication initiation factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MCM10provided by HGNC
Official Full Name: minichromosome maintenance 10 replication initiation factorprovided by HGNC
Primary source: HGNC:HGNC:18043
See related: Ensembl:ENSG00000065328 MIM:609357; AllianceGenome:HGNC:18043
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CNA43; DNA43; IMD80; PRO2249
Summary: The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression: Broad expression in bone marrow (RPKM 2.8), lymph node (RPKM 2.2) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p13

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (13161558..13211110)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (13176180..13225648)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (13203558..13253110)

Chromosome 10 - NC_000010.11 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?

A critical threshold of MCM10 is required to maintain genome stability during differentiation of induced pluripotent stem cells into natural killer cells.
Title: A critical threshold of MCM10 is required to maintain genome stability during differentiation of induced pluripotent stem cells into natural killer cells.
MCM10, a potential diagnostic, immunological, and prognostic biomarker in pan-cancer.
Title: MCM10, a potential diagnostic, immunological, and prognostic biomarker in pan-cancer.
Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation.
Title: Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation.
Over-Activation of Minichromosome Maintenance Protein 10 Promotes Genomic Instability in Early Stages of Breast Cancer.
Title: Over-Activation of Minichromosome Maintenance Protein 10 Promotes Genomic Instability in Early Stages of Breast Cancer.
Prognostic significance and function of MCM10 in human hepatocellular carcinoma.
Title: Prognostic significance and function of MCM10 in human hepatocellular carcinoma.
Aberrant MCM10 SUMOylation induces genomic instability mediated by a genetic variant associated with survival of esophageal squamous cell carcinoma.
Title: Aberrant MCM10 SUMOylation induces genomic instability mediated by a genetic variant associated with survival of esophageal squamous cell carcinoma.
BRCA2 associates with MCM10 to suppress PRIMPOL-mediated repriming and single-stranded gap formation after DNA damage.
Title: BRCA2 associates with MCM10 to suppress PRIMPOL-mediated repriming and single-stranded gap formation after DNA damage.
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
Title: Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
MCM10 compensates for Myc-induced DNA replication stress in breast cancer stem-like cells.
Title: MCM10 compensates for Myc-induced DNA replication stress in breast cancer stem-like cells.
Knockdown of MCM10 Gene Impairs Glioblastoma Cell Proliferation, Migration and Invasion and the Implications for the Regulation of Tumorigenesis.
Title: Knockdown of MCM10 Gene Impairs Glioblastoma Cell Proliferation, Migration and Invasion and the Implications for the Regulation of Tumorigenesis.

Submit: New GeneRIF Correction See all GeneRIFs (37)

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
Immunodeficiency 80 with or without congenital cardiomyopathy MedGen: C5543344 OMIM: 619313 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 depletes MCM10 in a Vpr-dependent manner	PubMed
	vpr	HIV-1 Vpr enhances the proteasomal degradation of MCM10, (a natural substrate for the Cul4-DDB1[VprBP] E3 ubiquitin ligase whose degradation is regulated by VprBP), by interacting with VprBP	PubMed
	vpr	HIV-1 Vpr degrades MCM10 via Cul4-DDB1 E3 ubiquitin ligase proteasomal degradation pathway	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA replication origin binding	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
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

Process	Evidence Code	Pubs
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA replication initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA replication initiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell population proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in nuclear replication fork	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: protein MCM10 homolog

Names: MCM10 minichromosome maintenance deficient 10; homolog of yeast MCM10; hsMCM10; minichromosome maintenance complex component 10

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_018518.5 → NP_060988.3 protein MCM10 homolog isoform 2

See identical proteins and their annotated locations for NP_060988.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) encodes the predominant isoform (2).

Source sequence(s)

AB042719, AL136840, AL138764, DA024424

Consensus CDS

CCDS7095.1

UniProtKB/TrEMBL

Q5T670

Related

ENSP00000367986.3, ENST00000378714.8

Conserved Domains (2) summary

pfam09329
Location:381 → 426

zf-primase; Primase zinc finger

pfam09332
Location:525 → 872

Mcm10; Mcm10 replication factor
NM_182751.3 → NP_877428.1 protein MCM10 homolog isoform 1

See identical proteins and their annotated locations for NP_877428.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) uses a different splice site, compared to variant 2, that results in a longer isoform (1). Though this variant is supported by EST data, the existence of its encoded isoform has not been experimentally verified.

Source sequence(s)

AB042719, AK055695, AL136840, AL138764, DA024424

Consensus CDS

CCDS7096.1

UniProtKB/Swiss-Prot

A8K9I6, B7ZKZ8, Q3MIR3, Q7L590, Q7LD55, Q96GX4, Q96NB6, Q9H0D7, Q9H3P9, Q9P177

UniProtKB/TrEMBL

Q5T670

Related

ENSP00000418268.1, ENST00000484800.6

Conserved Domains (2) summary

pfam09329
Location:382 → 427

zf-primase; Primase zinc finger

pfam09332
Location:526 → 873

Mcm10; Mcm10 replication factor