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    MCM3AP minichromosome maintenance complex component 3 associated protein [ Homo sapiens (human) ]

    Gene ID: 8888, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MCM3APprovided by HGNC
    Official Full Name
    minichromosome maintenance complex component 3 associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:6946
    See related
    Ensembl:ENSG00000160294 MIM:603294; AllianceGenome:HGNC:6946
    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
    GANP; SAC3; MAP80; PNRIID
    Summary
    The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014]
    Expression
    Ubiquitous expression in lymph node (RPKM 12.6), spleen (RPKM 12.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MCM3AP in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (46235133..46286265, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (44617688..44668894, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (47655047..47705525, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47611464-47612078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47612079-47612691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47614165-47614666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47614667-47615166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47621241-47621767 Neighboring gene small nucleolar RNA, C/D box 159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47638552-47639452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47640419-47640920 Neighboring gene lanosterol synthase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13414 Neighboring gene Sharpr-MPRA regulatory region 3947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13416 Neighboring gene MCM3AP antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13418 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47709143-47709725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47709726-47710307 Neighboring gene Sharpr-MPRA regulatory region 4411 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47715289-47715862 Neighboring gene Sharpr-MPRA regulatory region 1466 Neighboring gene chromosome 21 open reading frame 58 Neighboring gene ybeY metalloendoribonuclease Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47736113-47736948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47737784-47738618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47738619-47739453 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:47741059-47741321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13420 Neighboring gene uncharacterized LOC128092249 Neighboring gene pericentrin

    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. MCM3AP is transcribed from a promoter within an intron of the overlapping gene for GANP. Wickramasinghe VO, et al. J Mol Biol, 2011 Feb 25. PMID 21195085, Free PMC Article
    2. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Ylikallio E, et al. Brain, 2017 Aug 1. PMID 28633435
    3. Impact of germinal center-associated nuclear protein polymorphisms on breast cancer risk and prognosis in a Japanese population. Kotani H, et al. Breast Cancer, 2019 Sep. PMID 30810967
    4. Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport. Gustavsson EK, et al. Muscle Nerve, 2019 Sep. PMID 31241196
    5. Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease. Dong HL, et al. J Peripher Nerv Syst, 2020 Jun. PMID 32319184

    See all (97) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Two Cases of Periodic Paralysis Associated With MCM3AP Variants.
      Title: Two Cases of Periodic Paralysis Associated With MCM3AP Variants.
    2. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
      Title: Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
    3. Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.
      Title: Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.
    4. Long noncoding RNA MCM3AP antisense RNA 1 is downregulated in chronic obstructive pulmonary disease and regulates human bronchial smooth muscle cell proliferation.
      Title: Long noncoding RNA MCM3AP antisense RNA 1 is downregulated in chronic obstructive pulmonary disease and regulates human bronchial smooth muscle cell proliferation.
    5. The critical role of germinal center-associated nuclear protein in cell biology, immunohematology, and hematolymphoid oncogenesis.
      Title: The critical role of germinal center-associated nuclear protein in cell biology, immunohematology, and hematolymphoid oncogenesis.
    6. MCM3AP encodes germinal center-associated nuclear protein (GANP), a protein involved in the export of certain messenger RNAs from the nucleus to the cytoplasm
      Title: Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.
    7. The G allele of rs2839178 at the GANP locus was significantly associated with reduced breast cancer risk and longer disease-free survival in breast cancer patients, showing a consistent direction in the association between susceptibility and clinical outcome.
      Title: Impact of germinal center-associated nuclear protein polymorphisms on breast cancer risk and prognosis in a Japanese population.
    8. Circular RNA MCM3AP-AS1 directly bound to miR-194-5p and acted as competing endogenous RNA while subsequently facilitating miR-194-5p target gene FOXA1 expression in hepatocellular carcinoma cells.
      Title: A novel lncRNA MCM3AP-AS1 promotes the growth of hepatocellular carcinoma by targeting miR-194-5p/FOXA1 axis.
    9. The identification of MCM3AP variants in affected individuals from multiple centres establishes it as a disease gene for childhood-onset recessively inherited Charcot-Marie-Tooth neuropathy with intellectual disability.
      Title: MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
    10. MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child
      Title: MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.
    Submit: New GeneRIF Correction See all GeneRIFs (26)

    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
    Charcot-Marie-Tooth disease
    MedGen: C0007959 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview
    		not available
    Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
    MedGen: C4748283 OMIM: 618124 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
    EBI GWAS Catalog

    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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    Replication interactions

    Interaction Pubs
    Knockdown of minichromosome maintenance complex component 3 associated protein (MCM3AP) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Encapsidation of GANP into virions requires the CA region of HIV-1 Gag and GANP and is associated with HIV-1 genomic RNA 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

    Homology

    Clone Names

    • FLJ44336, FLJ45306, KIAA0572

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H2AK5 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AK9 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2BK12 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2BK5 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3 acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H3K122 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K14 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K18 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K23 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K27 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K36 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K4 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K56 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K9 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H4K12 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H4K16 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H4K5 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H4K8 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleosome organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in poly(A)+ mRNA export from nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in somatic hypermutation of immunoglobulin genes IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol HDA PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    part_of nuclear pore nuclear basket IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription export complex 2 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription export complex 2 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    germinal-center associated nuclear protein
    Names
    80 kDa MCM3-associated protein
    MCM3 acetylating protein
    MCM3 acetyltransferase
    MCM3 import protein
    MCM3 minichromosome maintenance deficient 3 associated protein
    germinal center-associated nuclear protein
    germinal-centre associated nuclear protein
    NP_003897.2
    XP_005261260.1
    XP_005261261.1
    XP_005261262.1
    XP_054180926.1
    XP_054180927.1
    XP_054180928.1

    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.

    Genomic

    1. NG_033881.1 RefSeqGene

      Range
      4712..55190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003906.5 → NP_003897.2  germinal-center associated nuclear protein

      See identical proteins and their annotated locations for NP_003897.2

      Status: REVIEWED

      Source sequence(s)
      AA659734, AJ010089, AL079407, AP000471, BC104958
      Consensus CDS
      CCDS13734.1
      UniProtKB/Swiss-Prot
      C9JL56, O60318, Q2M3C1, Q6PJP6, Q9BSY5, Q9UMT4
      UniProtKB/TrEMBL
      B7Z8Z8
      Related
      ENSP00000291688.1, ENST00000291688.6
      Conserved Domains (5) summary
      cd12443
      Location:435 → 506
      RRM_MCM3A_like; RNA recognition motif in 80 kDa MCM3-associated protein (Map80) and similar proteins
      pfam03399
      Location:686 → 910
      SAC3_GANP; SAC3/GANP/Nin1/mts3/eIF-3 p25 family
      pfam16766
      Location:1164 → 1234
      CID_GANP; Binding region of GANP to ENY2
      pfam16768
      Location:2 → 291
      NupH_GANP; Nucleoporin homology of Germinal-centre associated nuclear protein
      pfam16769
      Location:1262 → 1976
      MCM3AP_GANP; MCM3AP domain of GANP

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      46235133..46286265 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261205.5 → XP_005261262.1  germinal-center associated nuclear protein isoform X1

      See identical proteins and their annotated locations for XP_005261262.1

      UniProtKB/Swiss-Prot
      C9JL56, O60318, Q2M3C1, Q6PJP6, Q9BSY5, Q9UMT4
      UniProtKB/TrEMBL
      B7Z8Z8
      Related
      ENSP00000380820.1, ENST00000397708.1
      Conserved Domains (5) summary
      cd12443
      Location:435 → 506
      RRM_MCM3A_like; RNA recognition motif in 80 kDa MCM3-associated protein (Map80) and similar proteins
      pfam03399
      Location:686 → 910
      SAC3_GANP; SAC3/GANP/Nin1/mts3/eIF-3 p25 family
      pfam16766
      Location:1164 → 1234
      CID_GANP; Binding region of GANP to ENY2
      pfam16768
      Location:2 → 291
      NupH_GANP; Nucleoporin homology of Germinal-centre associated nuclear protein
      pfam16769
      Location:1262 → 1976
      MCM3AP_GANP; MCM3AP domain of GANP

    2. XM_005261204.6 → XP_005261261.1  germinal-center associated nuclear protein isoform X1

      See identical proteins and their annotated locations for XP_005261261.1

      UniProtKB/Swiss-Prot
      C9JL56, O60318, Q2M3C1, Q6PJP6, Q9BSY5, Q9UMT4
      UniProtKB/TrEMBL
      B7Z8Z8
      Conserved Domains (5) summary
      cd12443
      Location:435 → 506
      RRM_MCM3A_like; RNA recognition motif in 80 kDa MCM3-associated protein (Map80) and similar proteins
      pfam03399
      Location:686 → 910
      SAC3_GANP; SAC3/GANP/Nin1/mts3/eIF-3 p25 family
      pfam16766
      Location:1164 → 1234
      CID_GANP; Binding region of GANP to ENY2
      pfam16768
      Location:2 → 291
      NupH_GANP; Nucleoporin homology of Germinal-centre associated nuclear protein
      pfam16769
      Location:1262 → 1976
      MCM3AP_GANP; MCM3AP domain of GANP

    3. XM_005261203.5 → XP_005261260.1  germinal-center associated nuclear protein isoform X1

      See identical proteins and their annotated locations for XP_005261260.1

      UniProtKB/Swiss-Prot
      C9JL56, O60318, Q2M3C1, Q6PJP6, Q9BSY5, Q9UMT4
      UniProtKB/TrEMBL
      B7Z8Z8
      Conserved Domains (5) summary
      cd12443
      Location:435 → 506
      RRM_MCM3A_like; RNA recognition motif in 80 kDa MCM3-associated protein (Map80) and similar proteins
      pfam03399
      Location:686 → 910
      SAC3_GANP; SAC3/GANP/Nin1/mts3/eIF-3 p25 family
      pfam16766
      Location:1164 → 1234
      CID_GANP; Binding region of GANP to ENY2
      pfam16768
      Location:2 → 291
      NupH_GANP; Nucleoporin homology of Germinal-centre associated nuclear protein
      pfam16769
      Location:1262 → 1976
      MCM3AP_GANP; MCM3AP domain of GANP

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      44617688..44668894 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324953.1 → XP_054180928.1  germinal-center associated nuclear protein isoform X1

      UniProtKB/TrEMBL
      B7Z8Z8

    2. XM_054324951.1 → XP_054180926.1  germinal-center associated nuclear protein isoform X1

      UniProtKB/TrEMBL
      B7Z8Z8

    3. XM_054324952.1 → XP_054180927.1  germinal-center associated nuclear protein isoform X1

      UniProtKB/TrEMBL
      B7Z8Z8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60318.2 GenPept UniProtKB/Swiss-Prot:O60318

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