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MCM3AP Gene

protein-coding   GIFtS: 61
GCID: GC21M047655

Minichromosome Maintenance Complex Component 3 Associated...

(Previous names: minichromosome maintenance deficient (S. cerevisiae) 3-associated...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Minichromosome Maintenance Complex Component 3 Associated Protein1 2     Human MRNA For MCM3 Import Factor11
GANP2 3 5     SAC32
MAP802 3 5     Germinal Center-Associated Nuclear Protein2
Germinal-Centre Associated Nuclear Protein1 2     Germinal-Center Associated Nuclear Protein2
80 KDa MCM3-Associated Protein2 3     MCM3 Import Protein2
MCM3 Acetylating Protein2 3     MCM3 Minichromosome Maintenance Deficient 3 Associated Protein2
MCM3 Acetyltransferase2 3     EC 2.3.1.-3
MCM3 Minichromosome Maintenance Deficient 3 (S. Cerevisiae) Associated
Protein1
     KIAA05723
Minichromosome Maintenance Deficient (S. Cerevisiae) 3-Associated Protein1     

External Ids:    HGNC: 69461   Entrez Gene: 88882   Ensembl: ENSG000001602947   OMIM: 6032945   UniProtKB: O603183   

Export aliases for MCM3AP gene to outside databases

Previous GC identifers: GC21M044161 GC21M046511 GC21M046479 GC21M033037


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MCM3AP Gene:
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)

GeneCards Summary for MCM3AP Gene:
MCM3AP (minichromosome maintenance complex component 3 associated protein) is a protein-coding gene. Diseases associated with MCM3AP include malignant glioma, and breast and colorectal cancer. An important paralog of this gene is SAC3D1.

UniProtKB/Swiss-Prot: GANP_HUMAN, O60318
Function: Isoform GANP: Essential for the generation of high-affinity B-cells against T-cell-dependent antigens by
affecting somatic hypermutation at the IgV-regions. May have stimulation-dependent DNA primase activity that
would generate extra RNA primers in very rapidely proliferating cells and would support clonal expansion of
differentiating B-cells (By similarity). Involved in the nuclear export of poly(A)-containing mRNAs by acting as
a scaffold for the TREX-2 complex. The TREX-2 complex functions in docking export-competent ribonucleoprotein
particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in
mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery
Function: Isoform MCM3AP: Acetyltransferase targeting MCM3. Inhibits initiation of DNA replication, but not
elongation

Gene Wiki entry for MCM3AP Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MCM3AP gene promoter:
         GR   PPAR-gamma1   GR-beta   PPAR-gamma2   GR-alpha   NF-kappaB   NF-kappaB1   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MCM3AP promoter sequence

   Search Chromatin IP Primers for MCM3AP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MCM3AP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
MCM3AP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCM3AP gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M047655:   GeneLoc Nature:405,311-319
Start:
47,655,047 bp from pter       33,161,516 bp from centromere
End:
47,706,211 bp from pter 33,211,704 bp from centromere
Size:
51,165 bases 50,189 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: AB005543
genomic clones: R178H12 CTD2308H15


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GANP_HUMAN, O60318 (See protein sequence)
Recommended Name: Germinal-center associated nuclear protein  
Size: 1980 amino acids; 218405 Da
Subunit: Interacts with AICDA/AID (By similarity). Component of the nuclear pore complex (NPC)-associated TREX-2
complex (transcription and export complex 2), composed of at least GANP, two copies of ENY2, PCID2, DSS1, and
either centrin CETN2 or CETN3. Isoform MCM3AP interacts with MCM3. Interacts with NXF1 (By via FG-repeats)
1 PDB 3D structure from and Proteopedia for MCM3AP:
4DHX (3D)    
Secondary accessions: C9JL56 Q2M3C1 Q6PJP6 Q9BSY5 Q9UMT4
Alternative promoter usage: 2 isoforms:  O60318-1   O60318-2   (Produced via an alternative promoter within an intron of GANP. MCM3AP promoter elements are poorly conserved in mice, suggesting that the regulation of MCM3AP may be human specific)

Explore the universe of human proteins at neXtProt for MCM3AP: NX_O60318

Explore proteomics data for MCM3AP at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-508 by CDKs is required for DNA primase activity (By similarity)1
  • Ubiquitination2 at Lys1386, Lys1801
  • Modification sites at PhosphoSitePlus

  • See MCM3AP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003897.2  
    ENSEMBL proteins: 
     ENSP00000380820   ENSP00000408934   ENSP00000291688  

    MCM3AP Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for MCM3AP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR005062 SAC3/GANP/Nin1/mts3/eIF-3-p25

    Graphical View of Domain Structure for InterPro Entry O60318

    ProtoNet protein and cluster: O60318

    1 Blocks protein domain: IPB005062 SAC3/GANP family

    UniProtKB/Swiss-Prot: GANP_HUMAN, O60318
    Similarity: Belongs to the SAC3 family


    MCM3AP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GANP_HUMAN, O60318
    Function: Isoform GANP: Essential for the generation of high-affinity B-cells against T-cell-dependent antigens by
    affecting somatic hypermutation at the IgV-regions. May have stimulation-dependent DNA primase activity that
    would generate extra RNA primers in very rapidely proliferating cells and would support clonal expansion of
    differentiating B-cells (By similarity). Involved in the nuclear export of poly(A)-containing mRNAs by acting as
    a scaffold for the TREX-2 complex. The TREX-2 complex functions in docking export-competent ribonucleoprotein
    particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in
    mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery
    Function: Isoform MCM3AP: Acetyltransferase targeting MCM3. Inhibits initiation of DNA replication, but not
    elongation

         Genatlas biochemistry entry for MCM3AP:
    minichromosome maintenance deficient (S cerevisiae) 3-associated protein,80kDa,involved in the nuclear
    localization of MCM3

         Enzyme Number (IUBMB): EC 2.3.1.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS9712829
    GO:0016746transferase activity, transferring acyl groups IEA--
         
    MCM3AP for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MCM3AP:
     Decreased TP53 protein express  G0/1 arrest  Increased G1 DNA content 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mcm3ap):
     hematopoietic system  immune system  mortality/aging 

    MCM3AP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mcm3aptm2Imku for MCM3AP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MCM3AP
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MCM3AP

    miRNA
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    miRTarBase miRNAs that target MCM3AP:
    hsa-let-7a-5p (MIRT052573), hsa-mir-222-3p (MIRT046814), hsa-mir-26a-5p (MIRT050147), hsa-mir-3200-3p (MIRT052817), hsa-mir-484 (MIRT042228), hsa-mir-615-3p (MIRT039880)

    Block miRNA regulation of human, mouse, rat MCM3AP using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate MCM3AP:
    hsa-miR-23b hsa-miR-4251 hsa-miR-130a* hsa-miR-23a hsa-miR-23c
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MCM3AP

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    GenScript: all cDNA clones in your preferred vector: MCM3AP (NM_003906)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCM3AP

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCM3AP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GANP_HUMAN, O60318: Isoform GANP: Cytoplasm. Nucleus envelope. Nucleus, nuclear pore complex. Note=In B-cells
    nuclear import depends on interaction with AICDA/AID, and GANP is selectively targeted to the IgV-region gene (By
    similarity)
    GANP_HUMAN, O60318: Isoform MCM3AP: Cytoplasm. Nucleus, nucleoplasm. Note=Binding to MCM3 is required for
    nuclear import, associates with chromatin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16780588
    GO:0005643nuclear pore IEA--
    GO:0005654nucleoplasm IEA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol IDA16780588

    MCM3AP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MCM3AP
    Interactions:

        GeneGlobe Interaction Network for MCM3AP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MCM3AP (O603182, 3 ENSP000002916884) via UniProtKB, MINT, STRING, and/or I2D (see all 244)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENY2Q9NPA82, 3, ENSP000003398614MINT-65568 I2D: score=5 STRING: ENSP00000339861
    NUDT5Q9UKK92, 3, ENSP000004196284MINT-65754 I2D: score=5 STRING: ENSP00000419628
    SMAD3P840222, 3, ENSP000003329734MINT-61711 I2D: score=3 STRING: ENSP00000332973
    SMAD9O151982, 3, ENSP000003691544MINT-62124 I2D: score=3 STRING: ENSP00000369154
    CDC73Q6P1J92, 3, ENSP000003564054MINT-8251142 I2D: score=2 STRING: ENSP00000356405
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002376immune system process IEA--
    GO:0006260DNA replication TAS9712829
    GO:0006606protein import into nucleus TAS9712829
    GO:0051028mRNA transport IEA--

    MCM3AP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MCM3AP (GANP)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MCM3AP gene: 
    NM_003906.4  

    Unigene Cluster for MCM3AP:

    Minichromosome maintenance complex component 3 associated protein
    Hs.389037  [show with all ESTs]
    Unigene Representative Sequence: AJ010089
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000467026(uc002zip.1) ENST00000496607(uc002ziq.1) ENST00000486937(uc002zio.1)
    ENST00000397708 ENST00000481113 ENST00000494755 ENST00000479557 ENST00000426537
    ENST00000495475 ENST00000291688(uc002zir.1)
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate MCM3AP:
    hsa-miR-23b hsa-miR-4251 hsa-miR-130a* hsa-miR-23a hsa-miR-23c
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: MCM3AP (NM_003906)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat MCM3AP
      QuantiFast Probe-based Assays in human, mouse, rat MCM3AP

    Additional mRNA sequence: 

    AB011144.1 AJ010089.1 AK026578.1 AK095181.1 AK124490.1 AK126313.1 AK127239.1 AK304208.1 
    BC004497.2 BC013285.2 BC104958.1 BC104960.1 

    Selected DOTS entries (see all 38):

    DT.455808  DT.95176445  DT.91956595  DT.95176450  DT.100037807  DT.121134508  DT.100037808  DT.99936808 
    DT.100824299  DT.121134485  DT.417767  DT.97859821  DT.100742201  DT.101970035  DT.121134403  DT.75172821 
    DT.95176446  DT.121134401  DT.75123316  DT.95177405  DT.99936890  DT.121134365  DT.121134472  DT.91961730 

    Selected AceView cDNA sequences (see all 346):

    CR604265 AA702534 BM466042 BQ224767 AA721087 BM548923 BU537932 NM_003906 
    AA614335 BE906050 BM806666 BF439374 AI687381 BU181950 AA502296 BE207974 
    AW338932 BQ431474 AA515301 BE207823 CD107709 AA827373 CA310531 BF510331 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MCM3AP (see all 16)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a ·
    SP1:                                                                                                                                            -               
    SP2:                                                                                                                                            -               
    SP3:                                                                                            -                                                               
    SP4:                                                                                            -                                                               
    SP5:                                                                                            -                                                               

    ExUns: 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for MCM3AP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MCM3AP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGATAAACC
    MCM3AP Expression
    About this image


    MCM3AP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Node
     
     Kidney (Urinary System)
             Metanephros
    MCM3AP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MCM3AP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.389037
        Custom PCR Arrays for MCM3AP
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCM3AP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MCM3AP gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mcm3ap1 , 5 minichromosome maintenance deficient 3 (S. cerevisiae) more1, 5 80.39(n)1
    79.12(a)1
      10 (38.88 cM)5
    543871  NM_019434.21  NP_062307.21 
     764689715 
    chicken
    (Gallus gallus)
    Aves MCM3AP1 minichromosome maintenance complex component 3 associated more 63.01(n)
    60.86(a)
      424036  XM_421891.4  XP_421891.3 
    lizard
    (Anolis carolinensis)
    Reptilia MCM3AP6
    minichromosome maintenance complex component 3 ass...
    57(a)
    1 ↔ 1
    1(123011059-123058460)
    African clawed frog
    (Xenopus laevis)
    Amphibia BI446049.12   -- 75.26(n)    BI446049.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mcm3ap1 MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) more 51.87(n)
    45.79(a)
      436589  XM_684142.5  XP_689234.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta xmas-23 embryonic development RNA binding 43(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea F20D12.23   -- 33(a)   IV(7948864-7953612)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SAC3(YDR159W)4 Nuclear pore-associated protein; required for biogenesis more   --   4(771877-775782) 851737  NP_010443.1 


    ENSEMBL Gene Tree for MCM3AP (if available)
    TreeFam Gene Tree for MCM3AP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MCM3AP gene
    SAC3D12  

    MCM3AP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MCM3AP (see all 916)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0354724
    A colorectal cancer sample4--see VAR_0354722 L V mis40--------
    rs171766671,2
    C,F--38167556(-) AACAGAG/-GGATC 1 -- int12Minor allele frequency- -:0.06NS CSA 180
    rs1459710961,2
    --47672214(+) TGAAAC/TACATG 1 -- int10--------
    rs1398655071,2
    --47672577(+) TGGGCA/GACAGA 1 -- int10--------
    rs1871484101,2
    --47672616(+) GAATAC/TAGGCT 1 -- int10--------
    rs1915932901,2
    --47672681(+) TGAATA/GTATCT 1 -- int10--------
    rs1838894531,2
    --47672795(+) CTCACA/GCCTGT 1 -- int10--------
    rs1884489621,2
    --47672866(+) AGCTTC/GGGCAA 1 -- int10--------
    rs2018458111,2
    --47672892(+) TCTTT-/AAAAAA 1 -- int10--------
    rs1417920501,2
    --47672957(+) CTGAGA/GTGAGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for MCM3AP (47655047 - 47706211 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MCM3AP (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2393806CNV Deletion18987734
    esv2641041CNV Deletion19546169
    nsv509804CNV Insertion20534489
    nsv3547CNV Insertion18451855
    esv8319CNV Loss19470904
    esv22993CNV Loss19812545
    nsv519904CNV Loss19592680
    dgv4817n71CNV Loss21882294
    nsv914135CNV Loss21882294
    esv6085CNV Gain19470904

    Human Gene Mutation Database (HGMD): MCM3AP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MCM3AP
    DNA2.0 Custom Variant and Variant Library Synthesis for MCM3AP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603294    OMIM disorders: --

    5 diseases for MCM3AP:    
    About MalaCards
    malignant glioma    breast and colorectal cancer    cholangiocarcinoma    hepatocellular carcinoma
    colorectal cancer


    MCM3AP for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for MCM3AP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 16431081 (1)


    Export disorders for MCM3AP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MCM3AP gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with MCM3AP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel MCM3-associated protein that facilitates MCM3 nuclear localization. (PubMed id 9712829)1, 2, 3, 9 Takei Y. and Tsujimoto G. (J. Biol. Chem. 1998)
    2. MCM3AP is transcribed from a promoter within an intron of the overlapping gene for GANP. (PubMed id 21195085)1, 2, 3 Wickramasinghe V.O....Takei Y. (J. Mol. Biol. 2011)
    3. Functional interaction between the glucocorticoid receptor and GANP/MCM3AP. (PubMed id 16914116)1, 3, 9 Osman W....Zilliacus J. (Biochem. Biophys. Res. Commun. 2006)
    4. Structure, expression, and chromosomal localization of the human gene encoding a germinal center-associated nuclear protein (GANP) that associates with MCM3 involved in the initiation of DNA replication. (PubMed id 11024281)1, 2, 9 Abe E.... Sakaguchi N. (Gene 2000)
    5. The MCM3 acetylase MCM3AP inhibits initiation, but not elongation, of DNA replication via interaction with MCM3. (PubMed id 12226073)1, 2, 9 Takei Y....Laskey R. (J. Biol. Chem. 2002)
    6. MCM3AP, a novel acetyltransferase that acetylates replication protein MCM3. (PubMed id 11258703)1, 2, 9 Takei Y....Laskey R. (EMBO Rep. 2001)
    7. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. (PubMed id 24123876)1, 2 Schuurs-Hoeijmakers J.H.... de Brouwer A.P. (J. Med. Genet. 2013)
    8. mRNA export from mammalian cell nuclei is dependent on GANP. (PubMed id 20005110)1, 2 Wickramasinghe V.O....Laskey R.A. (Curr. Biol. 2010)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M.... Yaspo M.-L. (Nature 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8888 HGNC: 6946 AceView: MCM3AP Ensembl:ENSG00000160294 euGenes: HUgn8888
    ECgene: MCM3AP H-InvDB: MCM3AP

    (According to HUGE)
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    HUGE: KIAA0572

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MCM3AP Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/mcm3ap/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MCM3AP gene:
    Search GeneIP for patents involving MCM3AP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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