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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
  • DNA Replication Licensing Factor MCM4 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 Image Syndrome. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Mitotic G1-G1/S phases. GO annotations related to this gene include ATPase activity and ATP-dependent DNA helicase activity.

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

Enhancers for MCM4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F047997 1.5 FANTOM5 Ensembl ENCODE 11.8 +38.6 38606 3.5 BCOR CTCF KLF1 ESRRA FEZF1 RAD21 ZNF121 ZFHX2 GATA3 ZBTB48 MCM4 PRKDC ENSG00000255366 LOC105375819 UBE2V2
GH08F047351 1.6 FANTOM5 Ensembl ENCODE 11 -604.3 -604310 8.3 ATF1 MLX YY1 ZNF121 SP5 PPARG ZNF592 PBX2 ETV4 STAT3 CEBPD PRKDC SPIDR MCM4 LOC100420054 RPL10AP2 PIR60563 GC08M047258
GH08F047376 1.5 FANTOM5 Ensembl ENCODE 10.9 -579.0 -579005 10.0 ELF3 PKNOX1 SIN3A ZBTB40 RAD21 RARA SCRT2 CEBPB PPARG SMARCA4 MCM4 SPIDR RPL10AP2 PIR60563 GC08M047258
GH08F047360 1.6 FANTOM5 Ensembl ENCODE 7.9 -594.1 -594085 11.8 WRNIP1 YY1 ELK1 TBX21 PPARG KAT8 MIER3 ATF4 SMARCA4 PBX2 MCM4 PRKDC CEBPD SPIDR PIR60563 GC08M047258
GH08F047825 0.7 ENCODE 15.8 -133.9 -133851 1.4 SIN3A ZBTB40 ZIC2 ZFHX2 POLR2A ZNF600 EGR2 ZNF263 RFX1 SP2 MCM4 PRKDC GC08M047783 LOC105375818
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MCM4 on UCSC Golden Path with GeneCards custom track

Promoters for MCM4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001391322 315 3401 PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143

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

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:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0003678 DNA helicase activity IEA --
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 Models for MCM4 Gene

MGI Knock Outs for MCM4:
  • Mcm4 tm1b(KOMP)Mbp

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCM4 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for MCM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 19135898
GO:0005634 nucleus NAS 8265339
GO:0005654 nucleoplasm IDA,TAS --
GO:0016020 membrane IDA 19946888
GO:0042555 MCM complex IDA 17296731
genes like me logo Genes that share ontologies with MCM4: view

Pathways & Interactions for MCM4 Gene

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

Pathways by source for MCM4 Gene

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:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0006260 DNA replication IEA,TAS --
GO:0006268 DNA unwinding involved in DNA replication IEA --
GO:0006270 DNA replication initiation IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with MCM4: view

Drugs & Compounds for MCM4 Gene

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

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

(1) 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
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for MCM4 Gene



Protein tissue co-expression partners for MCM4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MCM4 Gene:

MCM4

SOURCE GeneReport for Unigene cluster for MCM4 Gene:

Hs.460184
genes like me logo Genes that share expression patterns with MCM4: view

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
chimpanzee
(Pan troglodytes)
Mammalia MCM4 34 35
  • 99.69 (n)
oppossum
(Monodelphis domestica)
Mammalia MCM4 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCM4 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCM4 34 35
  • 89.38 (n)
mouse
(Mus musculus)
Mammalia Mcm4 34 16 35
  • 88.09 (n)
rat
(Rattus norvegicus)
Mammalia Mcm4 34
  • 87.86 (n)
cow
(Bos Taurus)
Mammalia MCM4 34 35
  • 85.45 (n)
-- 35
  • 49 (a)
OneToMany
chicken
(Gallus gallus)
Aves MCM4 34 35
  • 77.3 (n)
lizard
(Anolis carolinensis)
Reptilia MCM4 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcm4 34
  • 75.28 (n)
Str.801 34
African clawed frog
(Xenopus laevis)
Amphibia mcm4-A 34
zebrafish
(Danio rerio)
Actinopterygii mcm4 34 35
  • 73.61 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3421 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004956 34
  • 60.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta dpa 36 34 35
  • 60.1 (n)
worm
(Caenorhabditis elegans)
Secernentea mcm-4 36 34 35
  • 55.53 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17512g 34
  • 52.68 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCM4 34 35 37
  • 52.31 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL026W 34
  • 51.9 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MCM4 34
  • 53.31 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.3274 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02539 34
  • 54.28 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mcm4 34
  • 53.49 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.744 34
Species where no ortholog for MCM4 was found in the sources mined by GeneCards:
  • 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

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

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

No data available for Paralogs for MCM4 Gene

Variants for MCM4 Gene

Sequence variations from dbSNP and Humsavar for MCM4 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs10088173 -- 47,958,302(+) ataac(C/T)tgaat intron-variant, upstream-variant-2KB
rs10091017 -- 47,973,910(+) TTTAA(A/G)TACTT intron-variant
rs10092257 -- 47,959,449(+) cgagg(C/T)ggggg intron-variant, upstream-variant-2KB
rs10095249 -- 47,972,756(+) ttcac(C/T)gtgtt intron-variant
rs10097627 -- 47,959,213(+) TGCTA(A/C)AAAGA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2759611 CNV loss 17122850
esv3617106 CNV loss 21293372
nsv1032750 CNV loss 25217958
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

Human Gene Mutation Database (HGMD)
MCM4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCM4

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

Disorders for MCM4 Gene

MalaCards: The human disease database

(2) 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
image syndrome
  • intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
- 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 22 64
  2. 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 4 22 64
  3. The promoters for human DNA-PKcs (PRKDC) and MCM4: divergently transcribed genes located at chromosome 8 band q11. (PMID: 9465298) Connelly M.A. … Anderson C.W. (Genomics 1998) 3 4 22 64
  4. MCM4 and PRKDC, human genes encoding proteins MCM4 and DNA-PKcs, are close neighbours located on chromosome 8q12-->q13. (PMID: 9284934) Ladenburger E.M. … Knippers R. (Cytogenet. Cell Genet. 1997) 3 4 22 64
  5. Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. (PMID: 22354167) Gineau L. … Jouanguy E. (J. Clin. Invest. 2012) 3 4 64

Products for MCM4 Gene

Sources for MCM4 Gene

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