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

Summary

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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL008648 (e-PCR)
- UniSTS:66891

SGC35494 (e-PCR)
- UniSTS:35667

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 ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables DNA replication origin binding	IEA Inferred from Electronic Annotation more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables forked DNA-dependent helicase activity	IEA Inferred from Electronic Annotation more info
enables four-way junction helicase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded 3'-5' DNA helicase activity	IEA Inferred from Electronic Annotation more info
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 chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
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 more info	PubMed
located_in membrane	HDA more info	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

EC 3.6.4.12

XP_006724305.1

EC 3.6.4.12

XP_047297322.1

EC 3.6.4.12

XP_054181595.1

EC 3.6.4.12

XP_054181596.1

EC 3.6.4.12

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)

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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

35400140..35455031

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060946.1 Alternate T2T-CHM13v2.0

Range

35858159..35913280

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325621.1 → XP_054181596.1 DNA replication licensing factor MCM5 isoform X1
XM_054325620.1 → XP_054181595.1 DNA replication licensing factor MCM5 isoform X1