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Aliases for MCM6 Gene

Aliases for MCM6 Gene

  • Minichromosome Maintenance Complex Component 6 2 3 5
  • Minichromosome Maintenance Deficient (Mis5, S. Pombe) 6 2 3
  • P105MCM 3 4
  • MCM6 Minichromosome Maintenance Deficient 6 (MIS5 Homolog, S. Pombe) (S. Cerevisiae) 2
  • MCM6 Minichromosome Maintenance Deficient 6 (MIS5 Homolog, S. Pombe) 3
  • Minichromosome Maintenance Deficient 6 Homolog (S. Cerevisiae) 2
  • MIS5 Homolog (S.Pombe) 2
  • EC 3.6.4.12 4
  • MCG40308 3
  • Mis5 3

External Ids for MCM6 Gene

Previous GeneCards Identifiers for MCM6 Gene

  • GC02M134252
  • GC02M134894
  • GC02M136619
  • GC02M136807
  • GC02M136430
  • GC02M136313
  • GC02M128590
  • GC02M136597

Summaries for MCM6 Gene

Entrez Gene Summary for MCM6 Gene

  • 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]

GeneCards Summary for MCM6 Gene

MCM6 (Minichromosome Maintenance Complex Component 6) is a Protein Coding gene. Diseases associated with MCM6 include Lactase Persistence/Nonpersistence and Lactose Intolerance. Among its related pathways are Cell Cycle Checkpoints and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include identical protein binding and ATP-dependent DNA helicase activity.

UniProtKB/Swiss-Prot for MCM6 Gene

  • Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for once per cell cycle DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity.

Gene Wiki entry for MCM6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCM6 Gene

Genomics for MCM6 Gene

Regulatory Elements for MCM6 Gene

Enhancers for MCM6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MCM6 on UCSC Golden Path with GeneCards custom track

Promoters for MCM6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MCM6 on UCSC Golden Path with GeneCards custom track

Genomic Location for MCM6 Gene

Chromosome:
2
Start:
135,839,626 bp from pter
End:
135,876,477 bp from pter
Size:
36,852 bases
Orientation:
Minus strand

Genomic View for MCM6 Gene

Genes around MCM6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCM6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCM6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCM6 Gene

Proteins for MCM6 Gene

  • Protein details for MCM6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14566-MCM6_HUMAN
    Recommended name:
    DNA replication licensing factor MCM6
    Protein Accession:
    Q14566
    Secondary Accessions:
    • B2R6H2
    • Q13504
    • Q99859

    Protein attributes for MCM6 Gene

    Size:
    821 amino acids
    Molecular mass:
    92889 Da
    Quaternary structure:
    • Component of the MCM2-7 complex. The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6-MCM4-MCM7-MCM3-MCM5 (Probable). May interact with MCM10. Interacts with TIPIN. Interacts with CDT1. Interacts with MCMBP.
    Miscellaneous:
    • Early fractionation of eukaryotic MCM proteins yielded a variety of dimeric, trimeric and tetrameric complexes with unclear biological significance. Specifically a MCM467 subcomplex is shown to have in vitro helicase activity which is inhibited by the MCM2 subunit. The MCM2-7 hexamer is the proposed physiological active complex.

    Three dimensional structures from OCA and Proteopedia for MCM6 Gene

neXtProt entry for MCM6 Gene

Proteomics data for MCM6 Gene at MOPED

Post-translational modifications for MCM6 Gene

  • O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner.
  • Ubiquitination at Lys 108, Lys 197, Lys 205, Lys 332, Lys 407, Lys 422, Lys 486, Lys 490, Lys 517, Lys 588, Lys 599, Lys 611, Lys 643, Lys 654, Lys 744, and Lys 775
  • Modification sites at PhosphoSitePlus

Other Protein References for MCM6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MCM6 Gene

Domains & Families for MCM6 Gene

Gene Families for MCM6 Gene

Suggested Antigen Peptide Sequences for MCM6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14566

UniProtKB/Swiss-Prot:

MCM6_HUMAN :
  • Contains 1 MCM domain.
  • Belongs to the MCM family.
Domain:
  • Contains 1 MCM domain.
Family:
  • Belongs to the MCM family.
genes like me logo Genes that share domains with MCM6: view

Function for MCM6 Gene

Molecular function for MCM6 Gene

GENATLAS Biochemistry:
cell division cycle,early S-phase-like-6,participating in the cell cycle control of genome duplication
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for once per cell cycle DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity.

Enzyme Numbers (IUBMB) for MCM6 Gene

Gene Ontology (GO) - Molecular Function for MCM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003697 single-stranded DNA binding IEA --
GO:0004003 contributes_to ATP-dependent DNA helicase activity IDA 9305914
GO:0042802 identical protein binding IPI 15232106
genes like me logo Genes that share ontologies with MCM6: view
genes like me logo Genes that share phenotypes with MCM6: view

Human Phenotype Ontology for MCM6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MCM6 Gene

Localization for MCM6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCM6 Gene

Nucleus. Note=Binds to chromatin during G1 and detach from it during S phase.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MCM6 Gene COMPARTMENTS Subcellular localization image for MCM6 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 2

No data available for Gene Ontology (GO) - Cellular Components for MCM6 Gene

Pathways & Interactions for MCM6 Gene

genes like me logo Genes that share pathways with MCM6: view

SIGNOR curated interactions for MCM6 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MCM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006270 DNA replication initiation IEA --
GO:0006271 DNA strand elongation involved in DNA replication TAS --
genes like me logo Genes that share ontologies with MCM6: view

Drugs & Compounds for MCM6 Gene

(3) Drugs for MCM6 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
atorvastatin Approved Pharma Competitive, Inhibitor 0
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for MCM6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with MCM6: view

Transcripts for MCM6 Gene

mRNA/cDNA for MCM6 Gene

Unigene Clusters for MCM6 Gene

Minichromosome maintenance complex component 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MCM6 Gene

No ASD Table

Relevant External Links for MCM6 Gene

GeneLoc Exon Structure for
MCM6
ECgene alternative splicing isoforms for
MCM6

Expression for MCM6 Gene

mRNA expression in normal human tissues for MCM6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MCM6 Gene

This gene is overexpressed in Lymph node (17.7) and Fetal ovary (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MCM6 Gene



SOURCE GeneReport for Unigene cluster for MCM6 Gene Hs.444118

genes like me logo Genes that share expression patterns with MCM6: view

Protein tissue co-expression partners for MCM6 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MCM6 Gene

Orthologs for MCM6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCM6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MCM6 35
  • 93.06 (n)
  • 97.44 (a)
MCM6 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCM6 35
  • 92.85 (n)
  • 97.32 (a)
MCM6 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mcm6 35
  • 88.31 (n)
  • 95.86 (a)
Mcm6 16
Mcm6 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MCM6 35
  • 99.92 (n)
  • 99.88 (a)
MCM6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mcm6 35
  • 86.89 (n)
  • 96.1 (a)
oppossum
(Monodelphis domestica)
Mammalia MCM6 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCM6 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCM6 35
  • 79.52 (n)
  • 88.21 (a)
MCM6 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCM6 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcm6.2 35
  • 73.49 (n)
  • 82.84 (a)
zebrafish
(Danio rerio)
Actinopterygii mcm6 35
  • 72.24 (n)
  • 83.65 (a)
mcm6 36
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mcm6 37
  • 62 (a)
Mcm6 35
  • 60.94 (n)
  • 64.62 (a)
Mcm6 36
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta MCM6_ANOGA 35
  • 60.95 (n)
  • 66.46 (a)
worm
(Caenorhabditis elegans)
Secernentea mcm-6 36
  • 56 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCM6 36
  • 37 (a)
OneToOne
MCM6 38
barley
(Hordeum vulgare)
Liliopsida Hv.4310 35
wheat
(Triticum aestivum)
Liliopsida Ta.6297 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8378 36
  • 56 (a)
OneToOne
Species with no ortholog for MCM6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MCM6 Gene

ENSEMBL:
Gene Tree for MCM6 (if available)
TreeFam:
Gene Tree for MCM6 (if available)

Paralogs for MCM6 Gene

(4) SIMAP similar genes for MCM6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MCM6: view

No data available for Paralogs for MCM6 Gene

Variants for MCM6 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MCM6 Gene

MCM6_HUMAN-Q14566
Intronic variations in MCM6 upstream from the LCT gene are associated with adult-type hypolactasia [MIM:223100] leading to lactose intolerance, or with lactase persistance. Lactose intolerance is a normal physiological phenomenon caused by developmental down-regulation of lactase activity during childhood or early adulthood. A non-coding variation in MCM6 affects the transcriptional regulation of the LCT gene resulting in down-regulation of lactase activity. However, the majority of Northern Europeans and some African populations have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence).

Sequence variations from dbSNP and Humsavar for MCM6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs3087355 - 135,876,261(-) CTTGG(A/T)GAGTA reference, synonymous-codon, missense
rs4988283 - 135,840,885(-) GCTAT(A/G)AAGAA reference, missense
rs680428 -- 135,873,187(+) ATGCC(A/G)TCCAC intron-variant
rs1804609 -- 135,840,858(-) TTAAC(A/C/T)CTAAC reference, missense
rs3087343 -- 135,864,973(-) AATCA(A/C)AATAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MCM6 Gene

Variant ID Type Subtype PubMed ID
esv2032582 CNV Deletion 18987734
esv2720865 CNV Deletion 23290073

Variation tolerance for MCM6 Gene

Residual Variation Intolerance Score: 63.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.28; 40.83% of all genes are more intolerant (likely to be disease-causing)

No data available for Relevant External Links for MCM6 Gene

Disorders for MCM6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MCM6 Gene - From: OMIM, GeneTests, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lactase persistence/nonpersistence
  • lactose intolerance, adult type
lactose intolerance
  • lm - lactose malabsorption
craniopharyngioma
  • neoplasm of rathke's pouch
enchondroma
- elite association - COSMIC cancer census association via MalaCards
Search MCM6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MCM6

Genetic Association Database (GAD)
MCM6
Human Genome Epidemiology (HuGE) Navigator
MCM6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCM6
genes like me logo Genes that share disorders with MCM6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MCM6 Gene

Publications for MCM6 Gene

  1. Human protein MCM6 on HeLa cell chromatin. (PMID: 9516426) Holthoff H.P. … Knippers R. (J. Biol. Chem. 1998) 3 4 23 67
  2. Effects of acute versus chronic hypoxia on DNA damage responses and genomic instability. (PMID: 20103649) Pires I.M. … Hammond E.M. (Cancer Res. 2010) 3 23
  3. Multiple rare variants as a cause of a common phenotype: several different lactase persistence associated alleles in a single ethnic group. (PMID: 19937006) Ingram C.J. … Swallow D.M. (J. Mol. Evol. 2009) 3 23
  4. [Expression of minichromosome maintenance protein 6 in craniopharyngioma and its correlation with prognosis]. (PMID: 17294730) Xu J.G. … Wang X.S. (Sichuan Da Xue Xue Bao Yi Xue Ban 2007) 3 23
  5. Expression of human MCM6 and DNA Topo II alpha in craniopharyngiomas and its correlation with recurrence of the tumor. (PMID: 17410335) Xu J. … Wang X. (J. Neurooncol. 2007) 3 23

Products for MCM6 Gene

Sources for MCM6 Gene

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