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Aliases for MCM4 Gene

Aliases for MCM4 Gene

  • Minichromosome Maintenance Complex Component 4 2 3 5
  • CDC21 Homolog 3 4
  • P1-CDC21 3 4
  • CDC21 3 4
  • MCM4 Minichromosome Maintenance Deficient 4 (S. Cerevisiae) 2
  • Homolog Of S. Pombe Cell Devision Cycle 21 3
  • Minichromosome Maintenance Deficient 4 3
  • EC 3.6.4.12 4
  • HCdc21 3
  • CDC54 3
  • NKGCD 3
  • NKCD 3

External Ids for MCM4 Gene

Previous HGNC Symbols for MCM4 Gene

  • CDC21

Previous GeneCards Identifiers for MCM4 Gene

  • GC08P048877
  • GC08P048596
  • GC08P048923
  • GC08P049036
  • GC08P048873
  • GC08P044336

Summaries for MCM4 Gene

Entrez Gene Summary for MCM4 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 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, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for MCM4 Gene

MCM4 (Minichromosome Maintenance Complex Component 4) is a Protein Coding gene. Diseases associated with MCM4 include natural killer cell and glucocorticoid deficiency with dna repair defect and primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency. Among its related pathways are Cell Cycle, Mitotic and RB in Cancer. GO annotations related to this gene include ATPase activity and ATP-dependent DNA helicase activity. An important paralog of this gene is MCM8.

UniProtKB/Swiss-Prot for MCM4 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 MCM4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCM4 Gene

Genomics for MCM4 Gene

Regulatory Elements for MCM4 Gene

Promoters for MCM4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MCM4 on UCSC Golden Path with GeneCards custom track

Genomic Location for MCM4 Gene

Chromosome:
8
Start:
47,960,185 bp from pter
End:
47,978,160 bp from pter
Size:
17,976 bases
Orientation:
Plus strand

Genomic View for MCM4 Gene

Genes around MCM4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCM4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCM4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCM4 Gene

Proteins for MCM4 Gene

  • Protein details for MCM4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P33991-MCM4_HUMAN
    Recommended name:
    DNA replication licensing factor MCM4
    Protein Accession:
    P33991
    Secondary Accessions:
    • Q8NEH1
    • Q99658

    Protein attributes for MCM4 Gene

    Size:
    863 amino acids
    Molecular mass:
    96558 Da
    Quaternary structure:
    • Component of the MCM2-7 complex (PubMed:9305914, PubMed:16899510). The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6-MCM4-MCM7-MCM3-MCM5 (Probable). Interacts with MCMBP (PubMed:17296731).
    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.

neXtProt entry for MCM4 Gene

Proteomics data for MCM4 Gene at MOPED

Post-translational modifications for MCM4 Gene

  • Sumoylated; SUMO2 modified in response to stress caused by inhibition of proteasome activity (in vitro).
  • Ubiquitination at Lys 123, Lys 163, Lys 179, Lys 216, Lys 220, Lys 349, Lys 381, Lys 439, Lys 444, Lys 450, Lys 536, Lys 600, Lys 628, Lys 752, Lys 762, Lys 770, Lys 814, and Lys 819
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MCM4 (MCM4)

No data available for DME Specific Peptides for MCM4 Gene

Domains & Families for MCM4 Gene

Gene Families for MCM4 Gene

Suggested Antigen Peptide Sequences for MCM4 Gene

Graphical View of Domain Structure for InterPro Entry

P33991

UniProtKB/Swiss-Prot:

MCM4_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 MCM4: view

Function for MCM4 Gene

Molecular function for MCM4 Gene

GENATLAS Biochemistry:
cell division cycle 21(CDC21) homolog,involved in an early step of DNA replication,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 MCM4 Gene

Gene Ontology (GO) - Molecular Function for MCM4 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
genes like me logo Genes that share ontologies with MCM4: view
genes like me logo Genes that share phenotypes with MCM4: view

Human Phenotype Ontology for MCM4 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 MCM4 Gene

Localization for MCM4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCM4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MCM4 Gene COMPARTMENTS Subcellular localization image for MCM4 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for MCM4 Gene

Pathways & Interactions for MCM4 Gene

genes like me logo Genes that share pathways with MCM4: view

SIGNOR curated interactions for MCM4 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MCM4 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 MCM4: view

Drugs & Compounds for MCM4 Gene

(2) Drugs for MCM4 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for MCM4 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 MCM4: view

Transcripts for MCM4 Gene

Unigene Clusters for MCM4 Gene

Minichromosome maintenance complex component 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MCM4 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ·
SP1: - - -
SP2: - - -
SP3: - - -
SP4:
SP5:
SP6: - - - - -
SP7: -
SP8: - -
SP9: - -
SP10:
SP11:
SP12:
SP13:

ExUns: 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b
SP1: - -
SP2: - -
SP3:
SP4:
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for MCM4 Gene

GeneLoc Exon Structure for
MCM4
ECgene alternative splicing isoforms for
MCM4

Expression for MCM4 Gene

mRNA expression in normal human tissues for MCM4 Gene

Protein differential expression in normal tissues from HIPED for MCM4 Gene

This gene is overexpressed in Liver (41.9) and Fetal ovary (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MCM4 Gene



SOURCE GeneReport for Unigene cluster for MCM4 Gene Hs.460184

genes like me logo Genes that share expression patterns with MCM4: view

Protein tissue co-expression partners for MCM4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MCM4 Gene

Orthologs for MCM4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCM4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MCM4 35
  • 85.45 (n)
  • 93.3 (a)
-- 36
  • 49 (a)
OneToMany
MCM4 36
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia MCM4 35
  • 89.38 (n)
  • 94.32 (a)
MCM4 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mcm4 35
  • 88.09 (n)
  • 95.01 (a)
Mcm4 16
Mcm4 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MCM4 35
  • 99.69 (n)
  • 99.77 (a)
MCM4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mcm4 35
  • 87.86 (n)
  • 95.24 (a)
oppossum
(Monodelphis domestica)
Mammalia MCM4 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCM4 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCM4 35
  • 77.3 (n)
  • 86.73 (a)
MCM4 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCM4 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcm4 35
  • 75.28 (n)
  • 85.98 (a)
Str.801 35
African clawed frog
(Xenopus laevis)
Amphibia mcm4-A 35
zebrafish
(Danio rerio)
Actinopterygii mcm4 35
  • 73.61 (n)
  • 82.19 (a)
mcm4 36
  • 81 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3421 35
fruit fly
(Drosophila melanogaster)
Insecta dpa 37
  • 61 (a)
dpa 35
  • 60.1 (n)
  • 64.61 (a)
dpa 36
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004956 35
  • 60.57 (n)
  • 64.16 (a)
worm
(Caenorhabditis elegans)
Secernentea mcm-4 37
  • 53 (a)
mcm-4 35
  • 55.53 (n)
  • 56.65 (a)
mcm-4 36
  • 52 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL026W 35
  • 51.9 (n)
  • 49.22 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17512g 35
  • 52.68 (n)
  • 49.44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCM4 35
  • 52.31 (n)
  • 50.14 (a)
MCM4 36
  • 40 (a)
OneToMany
MCM4 38
thale cress
(Arabidopsis thaliana)
eudicotyledons MCM4 35
  • 53.31 (n)
  • 47.11 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.3274 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.744 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02539 35
  • 54.28 (n)
  • 50.99 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mcm4 35
  • 53.49 (n)
  • 50.4 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToOne
Species with no ortholog for MCM4:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MCM4 Gene

ENSEMBL:
Gene Tree for MCM4 (if available)
TreeFam:
Gene Tree for MCM4 (if available)

Paralogs for MCM4 Gene

Paralogs for MCM4 Gene

(4) SIMAP similar genes for MCM4 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with MCM4: view

Variants for MCM4 Gene

Sequence variations from dbSNP and Humsavar for MCM4 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs17287663 - 47,970,002(+) TTATG(A/G)GAGGC reference, missense
rs762679 - 47,972,876(-) CAGCA(A/T)GAGGA reference, missense
rs1135031 -- 47,977,687(+) TGCCT(A/G)GGCTC utr-variant-3-prime
rs1065129 -- 47,974,083(+) ATGAG(C/G)TGAAG intron-variant
rs1065130 -- 47,974,256(+) AAGAA(A/T)TAAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MCM4 Gene

Variant ID Type Subtype PubMed ID
dgv2234e1 CNV Complex 17122850
nsv831309 CNV Loss 17160897

Variation tolerance for MCM4 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.23; 40.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MCM4 Gene

HapMap Linkage Disequilibrium report
MCM4
Human Gene Mutation Database (HGMD)
MCM4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCM4 Gene

Disorders for MCM4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MCM4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
natural killer cell and glucocorticoid deficiency with dna repair defect
  • familial isolated natural killer cell deficiency
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
  • primary immunodeficiency due to mcm4 deficiency
image syndrome
  • intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
- elite association - COSMIC cancer census association via MalaCards
Search MCM4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCM4_HUMAN
  • Natural killer cell and glucocorticoid deficiency with DNA repair defect (NKGCD) [MIM:609981]: An autosomal recessive disorder characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. {ECO:0000269 PubMed:22354167, ECO:0000269 PubMed:22354170, ECO:0000269 PubMed:22499342}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MCM4

Genetic Association Database (GAD)
MCM4
Human Genome Epidemiology (HuGE) Navigator
MCM4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCM4
genes like me logo Genes that share disorders with MCM4: view

No data available for Genatlas for MCM4 Gene

Publications for MCM4 Gene

  1. A human homologue of the yeast replication protein Cdc21. Interactions with other Mcm proteins. (PMID: 7601140) Musahl C. … Knippers R. (Eur. J. Biochem. 1995) 2 3 4 23 67
  2. Ki-67 expression is superior to mitotic count and novel proliferation markers PHH3, MCM4 and mitosin as a prognostic factor in thick cutaneous melanoma. (PMID: 20398247) Ladstein R.G. … Akslen L.A. (BMC Cancer 2010) 3 23
  3. Biochemical characterization of fragmented human MCM2. (PMID: 18190532) Komamura-Kohno Y. … Ishimi Y. (FEBS J. 2008) 3 23
  4. [Expression and significance of MCM4 in esophageal cancer]. (PMID: 17222376) Huang X.P. … Rong T.H. (Ai Zheng 2007) 3 23
  5. Identification and characterization of a novel component of the human minichromosome maintenance complex. (PMID: 17296731) Sakwe A.M. … Frappier L. (Mol. Cell. Biol. 2007) 3 23

Products for MCM4 Gene

Sources for MCM4 Gene

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