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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
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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 (44)

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
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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

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