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MCMBP minichromosome maintenance complex binding protein [ Homo sapiens (human) ]

Gene ID: 79892, updated on 7-Apr-2024

Summary

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Official Symbol
MCMBPprovided by HGNC
Official Full Name
minichromosome maintenance complex binding proteinprovided by HGNC
Primary source
HGNC:HGNC:25782
See related
Ensembl:ENSG00000197771 MIM:610909; AllianceGenome:HGNC:25782
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MCM-BP; C10orf119
Summary
This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Expression
Ubiquitous expression in placenta (RPKM 15.0), appendix (RPKM 14.1) and 25 other tissues See more
Orthologs
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Genomic context

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See MCMBP in Genome Data Viewer
Location:
10q26.11
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (119829440..119873581, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (120727023..120771125, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (121588952..121633093, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene inositol polyphosphate-5-phosphatase F Neighboring gene RNA, 7SL, cytoplasmic 846, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8600 Neighboring gene uncharacterized LOC105378513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2883 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10180 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10184 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:121575109-121575271 Neighboring gene phosphatase and actin regulator 2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121610009-121610508 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4133 Neighboring gene NANOG hESC enhancer GRCh37_chr10:121648618-121649156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:121650957-121651468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:121651469-121651979 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121651980-121652490 Neighboring gene SEC23 interacting protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10320 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10351 Neighboring gene microRNA 4682

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
  • 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. Deregulation of the replisome factor MCMBP prompts oncogenesis in colorectal carcinomas through chromosomal instability. Quimbaya M, et al. Neoplasia, 2014 Sep. PMID 25246271, Free PMC Article
  2. The MCM-associated protein MCM-BP is important for human nuclear morphology. Jagannathan M, et al. J Cell Sci, 2012 Jan 1. PMID 22250201
  3. MCMBP promotes the assembly of the MCM2-7 hetero-hexamer to ensure robust DNA replication in human cells. Saito Y, et al. Elife, 2022 Apr 19. PMID 35438632, Free PMC Article
  4. MCM-BP regulates unloading of the MCM2-7 helicase in late S phase. Nishiyama A, et al. Genes Dev, 2011 Jan 15. PMID 21196493, Free PMC Article
  5. The MCM-binding protein ETG1 aids sister chromatid cohesion required for postreplicative homologous recombination repair. Takahashi N, et al. PLoS Genet, 2010 Jan 15. PMID 20090939, Free PMC Article

See all (79) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MCMBP promotes the assembly of the MCM2-7 hetero-hexamer to ensure robust DNA replication in human cells.
    Title: MCMBP promotes the assembly of the MCM2-7 hetero-hexamer to ensure robust DNA replication in human cells.
  2. the MCMBP protein accumulates to high levels in cancer cells, whereas in normal proliferating tissue its abundance is low, indicating that MCMBP could be exploited as a novel diagnostic marker for this type of carcinoma.
    Title: Deregulation of the replisome factor MCMBP prompts oncogenesis in colorectal carcinomas through chromosomal instability.
  3. Data indicate that MCM-BP binds USP7 on chromatin and can mediate an interaction between the USP7 and MCM proteins.
    Title: A role for USP7 in DNA replication.
  4. results suggest that MCM-BP makes multiple contributions to human cells that are not limited to unloading of the MCM complex
    Title: The MCM-associated protein MCM-BP is important for human nuclear morphology.
  5. MCM-BP can decrease phosphorylation by DDK but is not a substrate.
    Title: Interactions of the human MCM-BP protein with MCM complex components and Dbf4.
  6. MCM-BP silencing in human cells also delays MCM dissociation in late S phase
    Title: MCM-BP regulates unloading of the MCM2-7 helicase in late S phase.
  7. Knockdown of the human ETG1 results in defective chromatid cohesion.
    Title: The MCM-binding protein ETG1 aids sister chromatid cohesion required for postreplicative homologous recombination repair.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
  9. MCM-BP is conserved in multicellular eukaryotes and shares limited homology with MCM proteins. MCM-BP formed a complex with MCM3 to MCM7, which excluded MCM2.
    Title: Identification and characterization of a novel component of the human minichromosome maintenance complex.
Submit: New GeneRIF Correction

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

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ13081, FLJ36756

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA-templated DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in DNA-templated DNA replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in sister chromatid cohesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of MCM complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell junction IDA
Inferred from Direct Assay
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
mini-chromosome maintenance complex-binding protein
Names
MCM-binding protein

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_001256378.2 → NP_001243307.1  mini-chromosome maintenance complex-binding protein isoform 2

    See identical proteins and their annotated locations for NP_001243307.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AC027672, BC004183
    Consensus CDS
    CCDS58099.1
    UniProtKB/TrEMBL
    A0A0S2Z5P5
    Related
    ENSP00000358073.3, ENST00000369077.4
    Conserved Domains (1) summary
    pfam09739
    Location:36 → 626
    MCM_bind; Mini-chromosome maintenance replisome factor

  2. NM_001256379.2 → NP_001243308.1  mini-chromosome maintenance complex-binding protein isoform 3

    See identical proteins and their annotated locations for NP_001243308.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region, and uses a downstream start codon compared to variant 1. The resulting protein (isoform 3) is shorter and has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC027672, AK094075
    UniProtKB/Swiss-Prot
    Q9BTE3
    Conserved Domains (1) summary
    pfam09739
    Location:1 → 453
    MCM_bind; Mini-chromosome maintenance replisome factor

  3. NM_024834.4 → NP_079110.1  mini-chromosome maintenance complex-binding protein isoform 1

    See identical proteins and their annotated locations for NP_079110.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AA292620, AC027672, AK023143, BQ929053
    Consensus CDS
    CCDS7617.1
    UniProtKB/Swiss-Prot
    B3KSP7, Q6IA56, Q9BTE3, Q9BVT9, Q9H916
    Related
    ENSP00000353098.3, ENST00000360003.7
    Conserved Domains (1) summary
    pfam09739
    Location:36 → 628
    MCM_bind; Mini-chromosome maintenance replisome factor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    119829440..119873581 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540170.2 → XP_011538472.1  mini-chromosome maintenance complex-binding protein isoform X3

    Conserved Domains (1) summary
    pfam09739
    Location:1 → 558
    MCM_bind; Mini-chromosome maintenance replisome factor

  2. XM_017016663.2 → XP_016872152.1  mini-chromosome maintenance complex-binding protein isoform X2

  3. XM_005270157.5 → XP_005270214.1  mini-chromosome maintenance complex-binding protein isoform X1

    Conserved Domains (1) summary
    pfam09739
    Location:36 → 573
    MCM_bind; Mini-chromosome maintenance replisome factor

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    120727023..120771125 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366759.1 → XP_054222734.1  mini-chromosome maintenance complex-binding protein isoform X2

  2. XM_054366758.1 → XP_054222733.1  mini-chromosome maintenance complex-binding protein isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BTE3.2 GenPept UniProtKB/Swiss-Prot:Q9BTE3

Gene LinkOut

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