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    MCM5 minichromosome maintenance complex component 5 [ Homo sapiens (human) ]

    Gene ID: 4174, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MCM5provided by HGNC
    Official Full Name
    minichromosome maintenance complex component 5provided by HGNC
    Primary source
    HGNC:HGNC:6948
    See related
    Ensembl:ENSG00000100297 MIM:602696; AllianceGenome:HGNC:6948
    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
    CDC46; MGORS8; P1-CDC46
    Summary
    The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in bone marrow (RPKM 35.9), lymph node (RPKM 27.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MCM5 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (35400140..35455031)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (35858159..35913280)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (35796133..35821424)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene target of myb1 membrane trafficking protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35732808-35733717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35745310-35745842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35745843-35746375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35746966-35747474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35748292-35749167 Neighboring gene microRNA 6069 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:35772530-35773729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18905 Neighboring gene heme oxygenase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35821835-35822340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35822341-35822848 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:35822849-35823354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35831135-35831636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18909 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35844065-35845031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35845032-35845997 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:35874918-35875095 Neighboring gene tRNA methyltransferase subunit 11-2 pseudogene 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35935540-35936102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35936103-35936665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35936666-35937228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:35945090-35945800 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:35948337-35949316 Neighboring gene RASD family member 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Increased expression of MCM5 is significantly associated with aggressive progression and poor prognosis of oral squamous cell carcinoma. Yu SY, et al. J Oral Pathol Med, 2014 May. PMID 24245508
    2. Diagnostic performance of minichromosome maintenance 5 (MCM5) in bladder cancer: A systematic review and meta-analysis. Sharma G, et al. Urol Oncol, 2022 Jun. PMID 35414492
    3. The High Expression of Minichromosome Maintenance Complex Component 5 Is an Adverse Prognostic Factor in Lung Adenocarcinoma. Sun M, et al. Biomed Res Int, 2022. PMID 35360518, Free PMC Article
    4. Detection of MCM5 as a novel non-invasive aid for the diagnosis of endometrial and ovarian tumours. Stockley J, et al. BMC Cancer, 2020 Oct 15. PMID 33059604, Free PMC Article
    5. MCM5 urine expression (ADXBLADDER) is a reliable biomarker of high-risk non- muscle-invasive bladder cancer recurrence: A prospective matched case-control study. Białek Ł, et al. Cancer Biomark, 2021. PMID 32924986

    See all (275) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MEG3 shuttled by exosomes released from human bone marrow mesenchymal stem cells promotes TP53 stability to regulate MCM5 transcription in keloid fibroblasts.
      Title: MEG3 shuttled by exosomes released from human bone marrow mesenchymal stem cells promotes TP53 stability to regulate MCM5 transcription in keloid fibroblasts.
    2. MCM5 is an oncogene of colon adenocarcinoma and promotes progression through cell cycle control.
      Title: MCM5 is an oncogene of colon adenocarcinoma and promotes progression through cell cycle control.
    3. m[6] A-Dependent Modulation via IGF2BP3/MCM5/Notch Axis Promotes Partial EMT and LUAD Metastasis.
      Title: m(6) A-Dependent Modulation via IGF2BP3/MCM5/Notch Axis Promotes Partial EMT and LUAD Metastasis.
    4. Phase separation of DDX21 promotes colorectal cancer metastasis via MCM5-dependent EMT pathway.
      Title: Phase separation of DDX21 promotes colorectal cancer metastasis via MCM5-dependent EMT pathway.
    5. Targeted inhibition of the expression of both MCM5 and MCM7 by miRNA-214 impedes DNA replication and tumorigenesis in hepatocellular carcinoma cells.
      Title: Targeted inhibition of the expression of both MCM5 and MCM7 by miRNA-214 impedes DNA replication and tumorigenesis in hepatocellular carcinoma cells.
    6. Diagnostic performance of minichromosome maintenance 5 (MCM5) in bladder cancer: A systematic review and meta-analysis.
      Title: Diagnostic performance of minichromosome maintenance 5 (MCM5) in bladder cancer: A systematic review and meta-analysis.
    7. The High Expression of Minichromosome Maintenance Complex Component 5 Is an Adverse Prognostic Factor in Lung Adenocarcinoma.
      Title: The High Expression of Minichromosome Maintenance Complex Component 5 Is an Adverse Prognostic Factor in Lung Adenocarcinoma.
    8. LncRNA CARMN overexpression promotes prognosis and chemosensitivity of triple negative breast cancer via acting as miR143-3p host gene and inhibiting DNA replication.
      Title: LncRNA CARMN overexpression promotes prognosis and chemosensitivity of triple negative breast cancer via acting as miR143-3p host gene and inhibiting DNA replication.
    9. miR-3607, a biomarker of hepatocellular carcinoma invasion and aggressiveness: Its relationship with epithelial-mesenchymal transition process.
      Title: miR-3607, a biomarker of hepatocellular carcinoma invasion and aggressiveness: Its relationship with epithelial-mesenchymal transition process.
    10. CRNDE enhances the expression of MCM5 and proliferation in acute myeloid leukemia KG-1a cells by sponging miR-136-5p.
      Title: CRNDE enhances the expression of MCM5 and proliferation in acute myeloid leukemia KG-1a cells by sponging miR-136-5p.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    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
    Meier-Gorlin syndrome 8
    MedGen: C4479655 OMIM: 617564 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)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr downregulates MCM5 in HeLa cells within 12 hours of exposure PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human minichromosome maintenance complex component 5 (MCM5) at amino acid residues 10-11 and 13-14 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC5315

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to 3'-5' DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA replication origin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to single-stranded DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA replication TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA replication initiation 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 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 PubMed 
    located_in membrane HDA 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 

    General protein information

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    Preferred Names
    DNA replication licensing factor MCM5
    Names
    CDC46 homolog
    MCM5 minichromosome maintenance deficient 5, cell division cycle 46
    minichromosome maintenance deficient 5 (cell division cycle 46)
    NP_006730.2
    XP_006724305.1
    XP_047297322.1
    XP_054181595.1
    XP_054181596.1

    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.

    mRNA and Protein(s)

    1. NM_006739.4 → NP_006730.2  DNA replication licensing factor MCM5

      See identical proteins and their annotated locations for NP_006730.2

      Status: REVIEWED

      Source sequence(s)
      BM787690, X74795, Z82244
      Consensus CDS
      CCDS13915.1
      UniProtKB/Swiss-Prot
      O60785, P33992, Q14578, Q9BTJ4, Q9BWL8
      UniProtKB/TrEMBL
      A8K521, B1AHB0, Q53FG5
      Related
      ENSP00000216122.3, ENST00000216122.9
      Conserved Domains (2) summary
      smart00350
      Location:133 → 649
      MCM; minichromosome maintenance proteins
      pfam14551
      Location:32 → 129
      MCM_N; MCM N-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      35400140..35455031
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441366.1 → XP_047297322.1  DNA replication licensing factor MCM5 isoform X1

    2. XM_006724242.5 → XP_006724305.1  DNA replication licensing factor MCM5 isoform X1

      UniProtKB/TrEMBL
      A8K521, Q53FG5
      Conserved Domains (3) summary
      cd00009
      Location:376 → 520
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00350
      Location:133 → 649
      MCM; minichromosome maintenance proteins
      pfam14551
      Location:34 → 153
      MCM_N; MCM N-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      35858159..35913280
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325621.1 → XP_054181596.1  DNA replication licensing factor MCM5 isoform X1

    2. XM_054325620.1 → XP_054181595.1  DNA replication licensing factor MCM5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P33992.5 GenPept UniProtKB/Swiss-Prot:P33992

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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