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

    Gene ID: 79892, updated on 27-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (119829440..119873581, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (120727023..120771125, complement)
    RS_2024_09 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. 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
    5. 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

    See all (89) 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)

    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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    NEW Try the new Transcript table

    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_2024_08

    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

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

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