MCM6 minichromosome maintenance complex component 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MCM6provided by HGNC
Official Full Name: minichromosome maintenance complex component 6provided by HGNC
Primary source: HGNC:HGNC:6949
See related: Ensembl:ENSG00000076003 MIM:601806; AllianceGenome:HGNC:6949
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: Mis5; P105MCM; MCG40308
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 MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]
Expression: Broad expression in lymph node (RPKM 19.9), bone marrow (RPKM 13.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q21.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (135839626..135876443, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (136284082..136320862, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (136597196..136634013, complement)

Chromosome 2 - NC_000002.12 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?

In silico functional, structural and pathogenicity analysis of missense single nucleotide polymorphisms in human MCM6 gene.
Title: In silico functional, structural and pathogenicity analysis of missense single nucleotide polymorphisms in human MCM6 gene.
High MCM6 expression promotes proliferation and correlates with poor prognosis in triple-negative breast cancer.
Title: High MCM6 expression promotes proliferation and correlates with poor prognosis in triple-negative breast cancer.
Hypoxia Induces Tumor-Derived Exosome SNHG16 to Mediate Nasopharyngeal Carcinoma Progression through the miR-23b-5p/MCM6 Pathway.
Title: Hypoxia Induces Tumor-Derived Exosome SNHG16 to Mediate Nasopharyngeal Carcinoma Progression through the miR-23b-5p/MCM6 Pathway.
UBE3A and MCM6 synergistically regulate the proliferation and migration of lung adenocarcinoma cells.
Title: UBE3A and MCM6 synergistically regulate the proliferation and migration of lung adenocarcinoma cells.
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Title: De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
MCM6 promotes intrahepatic cholangiocarcinoma progression by upregulating E2F1 and enhancing epithelial-mesenchymal transition.
Title: MCM6 promotes intrahepatic cholangiocarcinoma progression by upregulating E2F1 and enhancing epithelial-mesenchymal transition.
MCM6 is a critical transcriptional target of YAP to promote gastric tumorigenesis and serves as a therapeutic target.
Title: MCM6 is a critical transcriptional target of YAP to promote gastric tumorigenesis and serves as a therapeutic target.
A novel cell-cycle-regulated interaction of the Bloom syndrome helicase BLM with Mcm6 controls replication-linked processes.
Title: A novel cell-cycle-regulated interaction of the Bloom syndrome helicase BLM with Mcm6 controls replication-linked processes.
High MCM6 Expression as a Potential Prognostic Marker in Clear-cell Renal Cell Carcinoma.
Title: High MCM6 Expression as a Potential Prognostic Marker in Clear-cell Renal Cell Carcinoma.
Minichromosome maintenance 6 complex component identified by bioinformatics analysis and experimental validation in esophageal squamous cell carcinoma.
Title: Minichromosome maintenance 6 complex component identified by bioinformatics analysis and experimental validation in esophageal squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (38)

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
Nonpersistence of intestinal lactase MedGen: C0268181 OMIM: 223100 GeneReviews: Not available	Compare labs

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
Pol	gag-pol	HIV-1 Pol is identified to have a physical interaction with minichromosome maintenance complex component 6 (MCM6) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Tat	tat	Expression of HIV-1 Tat upregulates the abundance of minichromosome maintenance complex component 6 (MCM6) in the nucleoli of Jurkat T-cells	PubMed
	tat	Interaction of HIV-1 Tat with MCM6 in T-cells is identified by a proteomic strategy based on affinity chromatography coupled with mass spectrometry	PubMed
Vpr	vpr	HIV-1 Vpr downregulates MCM6 in HeLa cells within 12 hours of exposure	PubMed
integrase	gag-pol	HIV-1 IN is identified to have a physical interaction with minichromosome maintenance complex component 6 (MCM6) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	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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Markers

G29257 (e-PCR)
- UniSTS:64262

RH93355 (e-PCR)
- UniSTS:84261

RH77976 (e-PCR)
- UniSTS:43303

RH46031 (e-PCR)
- UniSTS:30534

RH67906 (e-PCR)
- UniSTS:69707

csnpmcm6-pcr1-1 (e-PCR)
- UniSTS:243043

csnpmcm6-pcr10-1 (e-PCR)
- UniSTS:243044

csnpmcm6-pcr11-1 (e-PCR)
- UniSTS:243045

csnpmcm6-pcr12-1 (e-PCR)
- UniSTS:243046

csnpmcm6-pcr17-1 (e-PCR)
- UniSTS:243047

csnpmcm6-pcr3-1 (e-PCR)
- UniSTS:243048

csnpmcm6-pcr5-1 (e-PCR)
- UniSTS:243049

csnpmcm6-pcr6-1 (e-PCR)
- UniSTS:243050

csnpmcm6-pcr7-1 (e-PCR)
- UniSTS:243051

csnpmcm6-pcr9-1 (e-PCR)
- UniSTS:243052

RH121248 (e-PCR)
- UniSTS:138359

SHGC-80078 (e-PCR)
- UniSTS:102135

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	NAS Non-traceable Author Statement more info	PubMed
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
contributes_to DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to single-stranded 3'-5' DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to single-stranded DNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in DNA replication	NAS Non-traceable Author Statement more info	PubMed
involved_in DNA replication initiation	IEA Inferred from Electronic Annotation more info
involved_in DNA unwinding involved in DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA unwinding involved in DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via break-induced replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA-templated DNA replication initiation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of CMG complex	IPI Inferred from Physical Interaction more info	PubMed
part_of CMG complex	ISS Inferred from Sequence or Structural Similarity more info
part_of MCM complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MCM complex	IDA Inferred from Direct Assay more info	PubMed
part_of MCM complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromosome, telomeric region	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay 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
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: DNA replication licensing factor MCM6

Names: MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe); minichromosome maintenance deficient (mis5, S. pombe) 6

NP_005906.2

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.

Genomic

NG_008958.1 RefSeqGene

Range

4999..41816

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005915.6 → NP_005906.2 DNA replication licensing factor MCM6

See identical proteins and their annotated locations for NP_005906.2

Status: REVIEWED

Source sequence(s)

AA577398, BC020268, BC032374, CN389677, DA521248

Consensus CDS

CCDS2179.1

UniProtKB/Swiss-Prot

B2R6H2, Q13504, Q14566, Q99859

UniProtKB/TrEMBL

Q4ZG57

Related

ENSP00000264156.2, ENST00000264156.3

Conserved Domains (3) summary

smart00350
Location:119 → 657

MCM; minichromosome maintenance proteins

pfam14551
Location:27 → 114

MCM_N; MCM N-terminal domain

pfam18263
Location:713 → 817

MCM6_C; MCM6 C-terminal winged-helix domain