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Aliases for MCM3AP Gene

Aliases for MCM3AP Gene

  • Minichromosome Maintenance Complex Component 3 Associated Protein 2 3 5
  • Germinal-Centre Associated Nuclear Protein 2 3
  • 80 KDa MCM3-Associated Protein 3 4
  • MCM3 Acetylating Protein 3 4
  • MCM3 Acetyltransferase 3 4
  • MAP80 3 4
  • GANP 3 4
  • MCM3 Minichromosome Maintenance Deficient 3 (S. Cerevisiae) Associated Protein 2
  • Minichromosome Maintenance Deficient (S. Cerevisiae) 3-Associated Protein 2
  • MCM3 Minichromosome Maintenance Deficient 3 Associated Protein 3
  • Germinal Center-Associated Nuclear Protein 3
  • Germinal-Center Associated Nuclear Protein 3
  • MCM3 Import Protein 3
  • EC 2.3.1.- 4
  • KIAA0572 4
  • SAC3 3

External Ids for MCM3AP Gene

Previous GeneCards Identifiers for MCM3AP Gene

  • GC21M044161
  • GC21M046511
  • GC21M046479
  • GC21M047655
  • GC21M033037

Summaries for MCM3AP Gene

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. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups. An important paralog of this gene is SAC3D1.

UniProtKB/Swiss-Prot for MCM3AP Gene

  • 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.

  • Isoform MCM3AP: Acetyltransferase targeting MCM3. Inhibits initiation of DNA replication, but not elongation.

Gene Wiki entry for MCM3AP Gene

Additional gene information for MCM3AP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCM3AP Gene

Genomics for MCM3AP Gene

GeneHancer (GH) Regulatory Elements for MCM3AP Gene

Promoters and enhancers for MCM3AP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21I046283 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 609.5 +0.9 935 4.1 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B MCM3AP YBEY ENSG00000228137 DIP2A POFUT2 ENSG00000227438 MCM3AP-AS1 COL6A1 ENSG00000215447 SPATC1L
GH21I045589 Enhancer 1.6 FANTOM5 Ensembl ENCODE 148.7 +695.1 695115 3.5 HDGF PKNOX1 ARNT YBX1 ZNF2 ZBTB7B POLR2B ZNF207 ZNF143 ZNF548 LINC01694 ENSG00000228137 MCM3AP DIP2A MCM3AP-AS1 UBE2G2 POFUT2 COL6A1 ENSG00000215447 ENSG00000227438
GH21I046319 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 96.6 -36.8 -36770 6.7 CLOCK DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 PCNT C21orf58 ENSG00000228137 MCM3AP ENSG00000227438 MCM3AP-AS1 DIP2A SPATC1L YBEY COL6A1
GH21I045976 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 72.1 +304.4 304380 11.2 HDGF PKNOX1 ATF1 ARNT NEUROD1 SIN3A YBX1 GLI4 ZNF2 ZBTB7B COL6A1 ENSG00000228137 MCM3AP DIP2A MCM3AP-AS1 POFUT2 ENSG00000227438 S100B ENSG00000215447 DSTNP1
GH21I046048 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 72.7 +228.0 228030 19.8 ZNF473 ZSCAN4 INSM2 KLF17 RAD21 ETS1 CBX5 ZNF350 ZNF548 FOS ENSG00000228137 DIP2A MCM3AP MCM3AP-AS1 COL6A1 POFUT2 ENSG00000215447 DSTNP1 LINC00205 ENSG00000227438
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MCM3AP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MCM3AP gene promoter:

Genomic Locations for MCM3AP Gene

Genomic Locations for MCM3AP Gene
chr21:46,235,125-46,286,559
(GRCh38/hg38)
Size:
51,435 bases
Orientation:
Minus strand
chr21:47,655,047-47,706,211
(GRCh37/hg19)

Genomic View for MCM3AP Gene

Genes around MCM3AP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCM3AP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCM3AP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCM3AP Gene

Proteins for MCM3AP Gene

  • Protein details for MCM3AP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60318-GANP_HUMAN
    Recommended name:
    Germinal-center associated nuclear protein
    Protein Accession:
    O60318
    Secondary Accessions:
    • C9JL56
    • Q2M3C1
    • Q6PJP6
    • Q9BSY5
    • Q9UMT4

    Protein attributes for MCM3AP Gene

    Size:
    1980 amino acids
    Molecular mass:
    218405 Da
    Quaternary structure:
    • 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, SEM1, and either centrin CETN2 or CETN3. Isoform MCM3AP interacts with MCM3. Interacts with NXF1 (By via FG-repeats).

    Three dimensional structures from OCA and Proteopedia for MCM3AP Gene

    Alternative splice isoforms for MCM3AP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCM3AP Gene

Post-translational modifications for MCM3AP Gene

  • Phosphorylation at Ser-508 by CDKs is required for DNA primase activity.
  • Ubiquitination at isoforms=21386 and isoforms=21801
  • Modification sites at PhosphoSitePlus

Other Protein References for MCM3AP Gene

No data available for DME Specific Peptides for MCM3AP Gene

Domains & Families for MCM3AP Gene

Gene Families for MCM3AP Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry

O60318

UniProtKB/Swiss-Prot:

GANP_HUMAN :
  • Belongs to the SAC3 family.
Family:
  • Belongs to the SAC3 family.
genes like me logo Genes that share domains with MCM3AP: view

Function for MCM3AP Gene

Molecular function for MCM3AP Gene

GENATLAS Biochemistry:
minichromosome maintenance deficient (S cerevisiae) 3-associated protein,80kDa,involved in the nuclear localization of MCM3
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
Isoform MCM3AP: Acetyltransferase targeting MCM3. Inhibits initiation of DNA replication, but not elongation.

Enzyme Numbers (IUBMB) for MCM3AP Gene

Phenotypes From GWAS Catalog for MCM3AP Gene

Gene Ontology (GO) - Molecular Function for MCM3AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding TAS 9712829
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with MCM3AP: view
genes like me logo Genes that share phenotypes with MCM3AP: view

Animal Models for MCM3AP Gene

MGI Knock Outs for MCM3AP:

Animal Model Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MCM3AP Gene

Localization for MCM3AP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCM3AP Gene

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. {ECO:0000250}.
Isoform MCM3AP: Cytoplasm. Nucleus, nucleoplasm. Note=Binding to MCM3 is required for nuclear import, associates with chromatin.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCM3AP gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear membrane (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MCM3AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,TAS --
GO:0005635 nuclear envelope IEA --
GO:0005643 nuclear pore IEA --
GO:0005654 nucleoplasm IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MCM3AP: view

Pathways & Interactions for MCM3AP Gene

SuperPathways for MCM3AP Gene

No Data Available

Gene Ontology (GO) - Biological Process for MCM3AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006606 protein import into nucleus TAS 9712829
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0051028 mRNA transport IEA --
genes like me logo Genes that share ontologies with MCM3AP: view

No data available for Pathways by source and SIGNOR curated interactions for MCM3AP Gene

Drugs & Compounds for MCM3AP Gene

No Compound Related Data Available

Transcripts for MCM3AP Gene

Unigene Clusters for MCM3AP Gene

Minichromosome maintenance complex component 3 associated protein:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCM3AP Gene

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: -
SP6:
SP7:
SP8: -
SP9: - - - -
SP10:
SP11: - - -
SP12:
SP13: -
SP14:
SP15:
SP16:

ExUns: 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for MCM3AP Gene

GeneLoc Exon Structure for
MCM3AP
ECgene alternative splicing isoforms for
MCM3AP

Expression for MCM3AP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MCM3AP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MCM3AP Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (52.5) and Nasal epithelium (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MCM3AP Gene



NURSA nuclear receptor signaling pathways regulating expression of MCM3AP Gene:

MCM3AP

SOURCE GeneReport for Unigene cluster for MCM3AP Gene:

Hs.389037

Evidence on tissue expression from TISSUES for MCM3AP Gene

  • Nervous system(4.8)
  • Lymph node(2.5)
  • Muscle(2.5)
  • Skin(2.2)
  • Blood(2)
  • Lung(2)
genes like me logo Genes that share expression patterns with MCM3AP: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MCM3AP Gene

Orthologs for MCM3AP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MCM3AP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCM3AP 33 34
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia MCM3AP 33 34
  • 84.62 (n)
cow
(Bos Taurus)
Mammalia MCM3AP 33 34
  • 84.53 (n)
mouse
(Mus musculus)
Mammalia Mcm3ap 33 16 34
  • 80.39 (n)
rat
(Rattus norvegicus)
Mammalia Mcm3ap 33
  • 79.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MCM3AP 34
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MCM3AP 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCM3AP 33 34
  • 63.01 (n)
lizard
(Anolis carolinensis)
Reptilia MCM3AP 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcm3ap 33
  • 53.83 (n)
zebrafish
(Danio rerio)
Actinopterygii mcm3ap 33 34
  • 51.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta xmas-2 35 34
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea F20D12.2 35 34
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAC3 34 36
  • 15 (a)
OneToMany
Species where no ortholog for MCM3AP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MCM3AP Gene

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

Paralogs for MCM3AP Gene

Paralogs for MCM3AP Gene

genes like me logo Genes that share paralogs with MCM3AP: view

Variants for MCM3AP Gene

Sequence variations from dbSNP and Humsavar for MCM3AP Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs483352869 uncertain-significance, Intellectual functioning disability 46,267,028(-) C/T coding_sequence_variant, missense_variant
rs773228537 A colorectal cancer sample 46,283,833(-) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs2839181 benign, not specified 46,266,025(-) A/G coding_sequence_variant, synonymous_variant
rs58271568 benign, not specified 46,287,126(-) AAAAAAAAAA/AAAAAAAAAAAA/AAAAAAAAAAAAA/AAAAAAAAAAAAAA/AAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAA upstream_transcript_variant
rs61182475 benign, not specified 46,287,136(-) T/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MCM3AP Gene

Variant ID Type Subtype PubMed ID
dgv7926n54 CNV loss 21841781
dgv7927n54 CNV gain 21841781
dgv7928n54 CNV loss 21841781
esv22993 CNV loss 19812545
esv2393806 CNV deletion 18987734
esv2641041 CNV deletion 19546169
esv3557870 CNV deletion 23714750
esv3647165 CNV loss 21293372
esv6085 CNV gain 19470904
esv8319 CNV loss 19470904
nsv1060978 CNV gain 25217958
nsv1072612 CNV deletion 25765185
nsv3547 CNV insertion 18451855
nsv470910 CNV gain 18288195
nsv509804 CNV insertion 20534489
nsv519904 CNV loss 19592680
nsv527355 CNV gain 19592680
nsv587967 CNV loss 21841781
nsv587968 CNV gain+loss 21841781
nsv587975 CNV gain 21841781
nsv587976 CNV loss 21841781
nsv587977 CNV loss 21841781

Variation tolerance for MCM3AP Gene

Residual Variation Intolerance Score: 9.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.35; 90.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCM3AP Gene

Human Gene Mutation Database (HGMD)
MCM3AP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCM3AP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCM3AP Gene

Disorders for MCM3AP Gene

Additional Disease Information for MCM3AP

No disorders were found for MCM3AP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MCM3AP Gene

Publications for MCM3AP Gene

  1. Identification of a novel MCM3-associated protein that facilitates MCM3 nuclear localization. (PMID: 9712829) Takei Y … Tsujimoto G (The Journal of biological chemistry 1998) 2 3 4 22 58
  2. MCM3AP is transcribed from a promoter within an intron of the overlapping gene for GANP. (PMID: 21195085) Wickramasinghe VO … Takei Y (Journal of molecular biology 2011) 2 3 4 58
  3. Functional interaction between the glucocorticoid receptor and GANP/MCM3AP. (PMID: 16914116) Osman W … Zilliacus J (Biochemical and biophysical research communications 2006) 2 3 22 58
  4. The MCM3 acetylase MCM3AP inhibits initiation, but not elongation, of DNA replication via interaction with MCM3. (PMID: 12226073) Takei Y … Laskey R (The Journal of biological chemistry 2002) 3 4 22 58
  5. MCM3AP, a novel acetyltransferase that acetylates replication protein MCM3. (PMID: 11258703) Takei Y … Laskey R (EMBO reports 2001) 3 4 22 58

Products for MCM3AP Gene

Sources for MCM3AP Gene

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