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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
  • 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. Diseases associated with MCM3AP include Polymicrogyria, Bilateral Temporooccipital and Charcot-Marie-Tooth Disease, Type 4J. 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

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

Genomics for MCM3AP Gene

Regulatory Elements for MCM3AP Gene

Enhancers for MCM3AP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MCM3AP on UCSC Golden Path with GeneCards custom track

Promoters for MCM3AP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MCM3AP on UCSC Golden Path with GeneCards custom track

Genomic Location for MCM3AP Gene

Chromosome:
21
Start:
46,235,125 bp from pter
End:
46,286,559 bp from pter
Size:
51,435 bases
Orientation:
Minus strand

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, DSS1, 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

Proteomics data for MCM3AP Gene at MOPED

Post-translational modifications for MCM3AP Gene

  • Phosphorylation at Ser-508 by CDKs is required for DNA primase activity.
  • Ubiquitination at Lys 1386 and Lys 1801
  • Modification sites at PhosphoSitePlus

Other Protein References for MCM3AP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MCM3AP Gene

Domains & Families for MCM3AP Gene

Protein Domains for MCM3AP Gene

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

No data available for Gene Families for MCM3AP Gene

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

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

Animal Models for MCM3AP Gene

MGI Knock Outs for MCM3AP:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for MCM3AP Gene COMPARTMENTS Subcellular localization image for MCM3AP gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MCM3AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0031965 nuclear membrane IDA --
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:0006260 DNA replication TAS 9712829
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:

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 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, MOPED, and MaxQB for MCM3AP Gene



SOURCE GeneReport for Unigene cluster for MCM3AP Gene Hs.389037

genes like me logo Genes that share expression patterns with MCM3AP: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia MCM3AP 35
  • 84.53 (n)
  • 83.38 (a)
MCM3AP 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCM3AP 35
  • 84.62 (n)
  • 84.44 (a)
MCM3AP 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mcm3ap 35
  • 80.39 (n)
  • 79.12 (a)
Mcm3ap 16
Mcm3ap 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MCM3AP 35
  • 99.29 (n)
  • 99.34 (a)
MCM3AP 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mcm3ap 35
  • 79.87 (n)
  • 79.49 (a)
oppossum
(Monodelphis domestica)
Mammalia MCM3AP 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCM3AP 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCM3AP 35
  • 63.01 (n)
  • 60.86 (a)
MCM3AP 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCM3AP 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcm3ap 35
  • 53.83 (n)
  • 46.93 (a)
zebrafish
(Danio rerio)
Actinopterygii mcm3ap 35
  • 51.87 (n)
  • 45.79 (a)
mcm3ap 36
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta xmas-2 37
  • 43 (a)
xmas-2 36
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F20D12.2 37
  • 33 (a)
F20D12.2 36
  • 21 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAC3 36
  • 15 (a)
OneToMany
SAC3 38
Species with no ortholog for MCM3AP:
  • 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 Sequence Context AA Info Type
VAR_019240 -
VAR_019241 -
rs17182552 - 46,284,289(-) ACCCC(A/G/T)GGGAG nc-transcript-variant, reference, missense
rs17182566 - 46,283,820(-) AACTC(C/T)GGCGC nc-transcript-variant, reference, missense
rs17182850 - 46,265,403(-) GACCC(C/T)GTCTG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv509804 CNV Insertion 20534489
nsv470910 CNV Gain 18288195
nsv519904 CNV Loss 19592680
nsv914134 CNV Gain 21882294
esv2641041 CNV Deletion 19546169
esv2393806 CNV Deletion 18987734
esv8319 CNV Loss 19470904
esv22993 CNV Loss 19812545
nsv527355 CNV Gain 19592680
nsv914135 CNV Loss 21882294
dgv4817n71 CNV Loss 21882294
esv6085 CNV Gain 19470904
nsv3547 CNV Insertion 18451855

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)

Relevant External Links for MCM3AP Gene

Human Gene Mutation Database (HGMD)
MCM3AP

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

Disorders for MCM3AP Gene

MalaCards: The human disease database

(4) MalaCards diseases for MCM3AP Gene - From: OMIM

Disorder Aliases PubMed IDs
polymicrogyria, bilateral temporooccipital
  • btop
charcot-marie-tooth disease, type 4j
  • cmt4j
amyotrophic lateral sclerosis 11
  • amyotrophic lateral sclerosis type 11
yunis-varon syndrome
  • cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MCM3AP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCM3AP
genes like me logo Genes that share disorders with MCM3AP: view

No data available for 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. (J. Biol. Chem. 1998) 2 3 4 23 67
  2. Functional interaction between the glucocorticoid receptor and GANP/MCM3AP. (PMID: 16914116) Osman W. … Zilliacus J. (Biochem. Biophys. Res. Commun. 2006) 2 3 23
  3. MCM3AP is transcribed from a promoter within an intron of the overlapping gene for GANP. (PMID: 21195085) Wickramasinghe V.O. … Takei Y. (J. Mol. Biol. 2011) 2 3
  4. Cholangiocarcinomas associated with long-term inflammation express the activation-induced cytidine deaminase and germinal center-associated nuclear protein involved in immunoglobulin V-region diversification. (PMID: 19578742) Chan-On W. … Sakaguchi N. (Int. J. Oncol. 2009) 3 23
  5. Decreased expression of germinal center-associated nuclear protein is involved in chromosomal instability in malignant gliomas. (PMID: 19686285) Ohta K. … Sakaguchi N. (Cancer Sci. 2009) 3 23

Products for MCM3AP Gene

Sources for MCM3AP Gene

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