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Aliases for MCM9 Gene

Aliases for MCM9 Gene

  • Minichromosome Maintenance 9 Homologous Recombination Repair Factor 2 3 5
  • Mini-Chromosome Maintenance Deficient Domain-Containing Protein 1 3 4
  • Minichromosome Maintenance Complex Component 9 2 3
  • C6orf61 3 4
  • MCMDC1 3 4
  • Minichromosome Maintenance Deficient Domain Containing 1 2
  • DNA Replication Licensing Factor MCM9 3
  • Chromosome 6 Open Reading Frame 61 2
  • Minichromosome Maintenance 9 4
  • DNA Helicase MCM9 3
  • EC 3.6.4.12 4
  • DJ329L24.1 3
  • DJ329L24.3 3
  • HMCM9 4
  • ODG4 3

External Ids for MCM9 Gene

Previous HGNC Symbols for MCM9 Gene

  • MCMDC1
  • C6orf61

Previous GeneCards Identifiers for MCM9 Gene

  • GC06M119255
  • GC06M119136
  • GC06M116813

Summaries for MCM9 Gene

Entrez Gene Summary for MCM9 Gene

  • The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]

GeneCards Summary for MCM9 Gene

MCM9 (Minichromosome Maintenance 9 Homologous Recombination Repair Factor) is a Protein Coding gene. Diseases associated with MCM9 include Ovarian Dysgenesis 4 and Fmr1-Related Primary Ovarian Insufficiency. Among its related pathways are Cell cycle. GO annotations related to this gene include ATPase activity and magnesium chelatase activity. An important paralog of this gene is MCM8.

UniProtKB/Swiss-Prot for MCM9 Gene

  • Component of the MCM8-MCM9 complex, a complex involved in homologous recombination repair following DNA interstrand cross-links and plays a key role during gametogenesis. The MCM8-MCM9 complex probably acts as a hexameric helicase downstream of the Fanconi anemia proteins BRCA2 and RAD51 and is required to process aberrant forks into homologous recombination substrates and to orchestrate homologous recombination with resection, fork stabilization and fork restart.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCM9 Gene

Genomics for MCM9 Gene

Regulatory Elements for MCM9 Gene

Enhancers for MCM9 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
GH06F118807 1.6 FANTOM5 Ensembl ENCODE 21.5 +125.6 125622 3.2 PKNOX1 MLX ARID4B DMAP1 ZNF143 FOS SP5 NFYC REST PPARG MCM9 CEP85L ASF1A FAM184A LOC100287632
GH06F118859 0.5 Ensembl 19.8 +75.4 75362 0.4 MCM9 ASF1A CEP85L LOC100287632
GH06F118875 0.5 ENCODE 19.5 +58.2 58172 2.4 SOX13 ZNF263 TFAP4 FOXA3 FEZF1 RAD21 ZNF644 FOXA1 POLR2H POLR2A MCM9 ASF1A LOC100287632
GH06F118864 0.6 Ensembl ENCODE 19.3 +70.2 70213 1.5 MCM9 ASF1A CEP85L FAM184A LOC100287632
GH06F118844 0.5 ENCODE 18.5 +90.2 90170 0.2 CBFB MAFG DPF2 GABPA ZNF316 SMARCA4 POLR2A PBX2 HMBOX1 ETV6 MCM9 ASF1A LOC100287632
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MCM9 on UCSC Golden Path with GeneCards custom track

Promoters for MCM9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001225599 162 2401 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A FEZF1 ZNF2 SLC30A9 ZNF143

Genomic Location for MCM9 Gene

Chromosome:
6
Start:
118,813,442 bp from pter
End:
118,935,162 bp from pter
Size:
121,721 bases
Orientation:
Minus strand

Genomic View for MCM9 Gene

Genes around MCM9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCM9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCM9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCM9 Gene

Proteins for MCM9 Gene

  • Protein details for MCM9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXL9-MCM9_HUMAN
    Recommended name:
    DNA helicase MCM9
    Protein Accession:
    Q9NXL9
    Secondary Accessions:
    • B4DR30
    • B9DI77
    • Q2KHJ0
    • Q8N5S5
    • Q9HCV5

    Protein attributes for MCM9 Gene

    Size:
    1143 amino acids
    Molecular mass:
    127313 Da
    Quaternary structure:
    • Component of the MCM8-MCM9 complex, which forms a hexamer composed of MCM8 and MCM9.
    SequenceCaution:
    • Sequence=BAA90991.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG61142.1; Type=Erroneous termination; Positions=1070; Note=Translated as Lys.; Evidence={ECO:0000305}; Sequence=CAX30832.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for MCM9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCM9 Gene

Post-translational modifications for MCM9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MCM9 Gene

No data available for DME Specific Peptides for MCM9 Gene

Domains & Families for MCM9 Gene

Gene Families for MCM9 Gene

Protein Domains for MCM9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NXL9

UniProtKB/Swiss-Prot:

MCM9_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 MCM9: view

Function for MCM9 Gene

Molecular function for MCM9 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Component of the MCM8-MCM9 complex, a complex involved in homologous recombination repair following DNA interstrand cross-links and plays a key role during gametogenesis. The MCM8-MCM9 complex probably acts as a hexameric helicase downstream of the Fanconi anemia proteins BRCA2 and RAD51 and is required to process aberrant forks into homologous recombination substrates and to orchestrate homologous recombination with resection, fork stabilization and fork restart.

Enzyme Numbers (IUBMB) for MCM9 Gene

Gene Ontology (GO) - Molecular Function for MCM9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004386 helicase activity IEA --
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MCM9: view
genes like me logo Genes that share phenotypes with MCM9: view

Human Phenotype Ontology for MCM9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MCM9 Gene

MGI Knock Outs for MCM9:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for MCM9 Gene

Localization for MCM9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCM9 Gene

Nucleus. Note=Localizes to nuclear foci and colocalizes with RAD51. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MCM9 Gene COMPARTMENTS Subcellular localization image for MCM9 gene
Compartment Confidence
nucleus 5
cytosol 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MCM9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0097362 MCM8-MCM9 complex IDA 22771115
genes like me logo Genes that share ontologies with MCM9: view

Pathways & Interactions for MCM9 Gene

SuperPathways for MCM9 Gene

SuperPathway Contained pathways
1 Cell cycle
genes like me logo Genes that share pathways with MCM9: view

Pathways by source for MCM9 Gene

1 BioSystems pathway for MCM9 Gene

Gene Ontology (GO) - Biological Process for MCM9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IDA 22771115
GO:0006260 DNA replication IEA --
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA,IDA 22771115
GO:0007276 gamete generation IEA --
genes like me logo Genes that share ontologies with MCM9: view

No data available for SIGNOR curated interactions for MCM9 Gene

Drugs & Compounds for MCM9 Gene

(7) Drugs for MCM9 Gene - From: ApexBio and HMDB

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
KPT-185 Pharma CRM1 inhibitor,selective and irrversible 0
KPT-276 Pharma 0

(1) Additional Compounds for MCM9 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

(4) ApexBio Compounds for MCM9 Gene

Compound Action Cas Number
KPT-185 CRM1 inhibitor,selective and irrversible 1333151-73-7
KPT-276 1421919-75-6
KPT-330 1393477-72-9
Verdinexor (KPT-335) 1392136-43-4
genes like me logo Genes that share compounds with MCM9: view

Transcripts for MCM9 Gene

Unigene Clusters for MCM9 Gene

Minichromosome maintenance complex component 9:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCM9 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12
SP1: - -
SP2:
SP3:
SP4: -
SP5:

Relevant External Links for MCM9 Gene

GeneLoc Exon Structure for
MCM9
ECgene alternative splicing isoforms for
MCM9

Expression for MCM9 Gene

mRNA expression in normal human tissues for MCM9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MCM9 Gene

This gene is overexpressed in Blymphocyte (65.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MCM9 Gene



Protein tissue co-expression partners for MCM9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MCM9 Gene:

MCM9

SOURCE GeneReport for Unigene cluster for MCM9 Gene:

Hs.279008
genes like me logo Genes that share expression patterns with MCM9: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MCM9 Gene

Orthologs for MCM9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCM9 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 100 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia MCM9 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia MCM9 34 35
  • 86.12 (n)
cow
(Bos Taurus)
Mammalia MCM9 34 35
  • 84.46 (n)
mouse
(Mus musculus)
Mammalia Mcm9 34 16 35
  • 79.64 (n)
rat
(Rattus norvegicus)
Mammalia Mcm9 34
  • 78.66 (n)
oppossum
(Monodelphis domestica)
Mammalia MCM9 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCM9 34 35
  • 64.33 (n)
lizard
(Anolis carolinensis)
Reptilia MCM9 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcm9 34
  • 61.32 (n)
zebrafish
(Danio rerio)
Actinopterygii mcm9 35
  • 48 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCM2 35
  • 21 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MCM9 34
  • 53.88 (n)
rice
(Oryza sativa)
Liliopsida Os06g0218500 34
  • 54.84 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
Species where no ortholog for MCM9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for MCM9 Gene

ENSEMBL:
Gene Tree for MCM9 (if available)
TreeFam:
Gene Tree for MCM9 (if available)

Paralogs for MCM9 Gene

Paralogs for MCM9 Gene

(3) SIMAP similar genes for MCM9 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MCM9: view

Variants for MCM9 Gene

Sequence variations from dbSNP and Humsavar for MCM9 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs587777871 Pathogenic 118,827,925(-) GAAGG(C/T)CTATT splice-donor-variant
rs587777872 Pathogenic 118,924,038(-) TGATT(C/T)GAACA reference, stop-gained
rs587777873 untested 118,828,126(-) GGTTA(A/C)CCAAG reference, stop-gained
rs10080855 -- 118,933,757(+) AAGAA(A/G)TACAT intron-variant
rs1022706 -- 118,930,841(-) TGTTT(A/T)AAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MCM9 Gene

Variant ID Type Subtype PubMed ID
esv2658866 CNV deletion 23128226
esv2660667 CNV deletion 23128226
esv2675335 CNV deletion 23128226
esv2677245 CNV deletion 23128226
esv29127 CNV gain 19812545
esv3375972 CNV duplication 20981092
esv3610526 CNV loss 21293372
esv3610527 CNV loss 21293372
esv3610528 CNV loss 21293372
esv3610529 CNV loss 21293372
nsv1020463 CNV gain 25217958
nsv1161446 CNV duplication 26073780
nsv437523 CNV loss 16327808
nsv473895 CNV novel sequence insertion 20440878
nsv476974 CNV novel sequence insertion 20440878
nsv477221 CNV novel sequence insertion 20440878
nsv479119 CNV novel sequence insertion 20440878
nsv479792 CNV novel sequence insertion 20440878
nsv479849 CNV novel sequence insertion 20440878
nsv480367 CNV novel sequence insertion 20440878
nsv480485 CNV novel sequence insertion 20440878
nsv480584 CNV novel sequence insertion 20440878
nsv480609 CNV novel sequence insertion 20440878
nsv480674 CNV novel sequence insertion 20440878
nsv480899 CNV novel sequence insertion 20440878
nsv481210 CNV novel sequence insertion 20440878
nsv481344 CNV novel sequence insertion 20440878
nsv509151 CNV insertion 20534489
nsv510910 OTHER complex 20534489
nsv5453 CNV insertion 18451855
nsv830788 CNV gain 17160897

Variation tolerance for MCM9 Gene

Gene Damage Index Score: 5.14; 69.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MCM9 Gene

Human Gene Mutation Database (HGMD)
MCM9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCM9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCM9 Gene

Disorders for MCM9 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MCM9 Gene - From: OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
ovarian dysgenesis 4
  • 46,xx ovarian dysgenesis-short stature syndrome
fmr1-related primary ovarian insufficiency
  • premature ovarian failure 1
premature ovarian failure 1
  • turner syndrome
uterine hypoplasia
- elite association - COSMIC cancer census association via MalaCards
Search MCM9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCM9_HUMAN
  • Ovarian dysgenesis 4 (ODG4) [MIM:616185]: A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. {ECO:0000269 PubMed:25480036}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MCM9

Human Genome Epidemiology (HuGE) Navigator
MCM9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCM9
genes like me logo Genes that share disorders with MCM9: view

No data available for Genatlas for MCM9 Gene

Publications for MCM9 Gene

  1. Identification of full genes and proteins of MCM9, a novel, vertebrate-specific member of the MCM2-8 protein family. (PMID: 16226853) Lutzmann M. … Mechali M. (Gene 2005) 2 3 4 22 64
  2. Identification of a novel cell-cycle-induced MCM family protein MCM9. (PMID: 15850810) Yoshida K. (Biochem. Biophys. Res. Commun. 2005) 2 3 22 64
  3. MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. (PMID: 25480036) Wood-Trageser M.A. … Rajkovic A. (Am. J. Hum. Genet. 2014) 3 4 64
  4. Identification, quantification, and evolutionary analysis of a novel isoform of MCM9. (PMID: 23403237) Jeffries E.P. … Trakselis M.A. (Gene 2013) 3 4 64
  5. Mcm8 and Mcm9 form a complex that functions in homologous recombination repair induced by DNA interstrand crosslinks. (PMID: 22771115) Nishimura K. … Kanemaki M.T. (Mol. Cell 2012) 3 4 64

Products for MCM9 Gene

Sources for MCM9 Gene

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