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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 acetyltransfe... See more...
Aliases for MCM3AP Gene
Aliases for MCM3AP Gene
- 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 2.3.1.48 4
- EC 2.3.1.- 4
- PNRIID 3
- MCM3AP 5
- Map80 2
External Ids for MCM3AP Gene
- HGNC: 6946
- Entrez Gene: 8888
- Ensembl: ENSG00000160294
- OMIM: 603294
- UniProtKB: O60318
Previous GeneCards Identifiers for MCM3AP Gene
- GC21M044161
- GC21M046511
- GC21M046479
- GC21M047655
- GC21M033037
Summaries 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 Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development and Charcot-Marie-Tooth Disease. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups. An important paralog of this gene is LENG8.
UniProtKB/Swiss-Prot Summary for MCM3AP Gene
-
[Isoform GANP]: As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:20005110, PubMed:20384790, PubMed:23591820, PubMed:22307388). Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutations (PubMed:23652018).
-
[Isoform MCM3AP]: Binds to and acetylates the replication protein MCM3. Plays a role in the initiation of DNA replication and participates in controls that ensure that DNA replication initiates only once per cell cycle (PubMed:11258703, PubMed:12226073). Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutations (PubMed:23652018).
Additional gene information for MCM3AP Gene
- HGNC(6946)
- Entrez Gene(8888)
- Ensembl(ENSG00000160294)
- OMIM(603294)
- UniProtKB(O60318)
- Open Targets Platform(ENSG00000160294)
- Monarch Initiative
- Search for MCM3AP at DataMed
- Search for MCM3AP at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCM3AP Gene
Genomics for MCM3AP Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MCM3AP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MCM3AP on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCM3AP
- Top Transcription factor binding sites by QIAGEN in the MCM3AP gene promoter:
-
- Evi-1
- GR
- GR-alpha
- GR-beta
- NF-kappaB
- NF-kappaB1
- PPAR-gamma1
- PPAR-gamma2
Genomic Locations for MCM3AP Gene
Genomic Locations for MCM3AP Gene
- chr21:46,235,130-46,286,297
- (GRCh38/hg38)
- Size:
- 51,168 bases
- Orientation:
- Minus strand
- chr21:47,655,047-47,706,211
- (GRCh37/hg19)
- Size:
- 51,165 bases
- Orientation:
- Minus strand
Genomic View for MCM3AP Gene
Genes around MCM3AP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.3 by HGNC
- 21q22.3 by Entrez Gene
- 21q22.3 by Ensembl
MCM3AP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- C9JL56
- Q2M3C1
- Q6PJP6
- Q9BSY5
- Q9UMT4
Protein attributes for MCM3AP Gene
- Size:
- 1980 amino acids
- Molecular mass:
- 218405 Da
- Quaternary structure:
-
- Isoform GANP: Component of the nuclear pore complex (NPC)-associated TREX-2 complex (transcription and export complex 2), composed of at least GANP, 2 copies of ENY2, PCID2, SEM1/DSS1, and either centrin CETN2 or centrin CETN3. The TREX-2 complex also associates with ALYREF/ALY (PubMed:23591820, PubMed:22307388). Interacts with RNA polymerase II subunit POLR2A and with the transcription elongation factor SUPT5H/SPT5 (PubMed:23652018, PubMed:22307388). Interacts (via FG-repeats) with NXF1; this interaction is not mediated by RNA (PubMed:20005110). Isoform GANP interacts with nuclear envelope proteins NUP62, NUP153 and RANBP2/NUP358; interaction with NUP153 is required for full localization at the nuclear pore complex (PubMed:20005110, PubMed:23652018). Interacts with several RNA helicases, including DHX9, DDX21, and DDX39A/DDX39, and with DNA topoisomerase TOP2A (PubMed:23652018). Directly interacts with AICDA/AID (PubMed:20507984). Interacts with the glucocorticoid receptor NR3C1 (PubMed:16914116). Isoform MCM3AP: Interacts with the glucocorticoid receptor NR3C1 (PubMed:16914116). Interacts with MCM3; this interaction leads to MCM3 acetylation (PubMed:9712829, PubMed:11258703, PubMed:12226073).
- Miscellaneous:
-
- [Isoform MCM3AP]: 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.
Protein Expression for MCM3AP Gene
Post-translational modifications for MCM3AP Gene
Other Protein References for MCM3AP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ GANP Antibody
- HUABIO MCM3AP antibody
-
Custom Antibody ServicesOriGene Antibodies for MCM3AP
- Novus Biologicals Antibodies for MCM3AP
-
Abcam antibodies for MCM3AP
- Invitrogen Antibodies for MCM3AP (AFLGC-MCM3AP)
- antibodies-online: Show 12 available MCM3AP Antibodies ranked by validation data
- Compare Top MCM3AP Antibodies
-
Recommended
- 12 IF (p) Antibodies (anti-rat)
- 12 WB Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 36 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 25 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MCM3AP
- Origene Custom Protein Services for MCM3AP
- Novus Biologicals proteins for MCM3AP
-
Signalway Proteins for MCM3AP
-
Abcam proteins for MCM3AP
Assay Products
- antibodies-online: Show 2 available MCM3AP Elisa Kits ranked by validation data
- Compare Top MCM3AP Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for MCM3AP
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
Protein Domains for MCM3AP Gene
- InterPro:
- Blocks:
-
- SAC3/GANP family
- ProtoNet:
Suggested Antigen Peptide Sequences for MCM3AP Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ37862 fis, clone BRSSN2015707, highly similar to 80 kDa MCM3-ASSOCIATED PROTEIN (B3KT88_HUMAN)
- Protein GANP (MCM3A_HUMAN)
- MCM3AP protein (Q6PJP6_HUMAN)
- MCM3AP protein (Q9BSY5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O60318- Family:
-
- Belongs to the SAC3 family.
Function for MCM3AP Gene
Molecular function for MCM3AP Gene
- UniProtKB/Swiss-Prot Function:
- [Isoform GANP]: As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:20005110, PubMed:20384790, PubMed:23591820, PubMed:22307388). Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutations (PubMed:23652018).
- UniProtKB/Swiss-Prot Function:
- [Isoform MCM3AP]: Binds to and acetylates the replication protein MCM3. Plays a role in the initiation of DNA replication and participates in controls that ensure that DNA replication initiates only once per cell cycle (PubMed:11258703, PubMed:12226073). Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutations (PubMed:23652018).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone]; Xref=Rhea:RHEA:21992, Rhea:RHEA-COMP:9845, Rhea:RHEA-COMP:11338, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:61930; EC=2.3.1.48; Evidence={ECO:0000269|PubMed:23652018};.
- GENATLAS Biochemistry:
- minichromosome maintenance deficient (S cerevisiae) 3-associated protein,80kDa,involved in the nuclear localization of MCM3
Enzyme Numbers (IUBMB) for MCM3AP Gene
Phenotypes From GWAS Catalog for MCM3AP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003682 | chromatin binding | IDA | 23652018 |
| GO:0004402 | histone acetyltransferase activity | IEA,IDA | 23652018 |
| GO:0005515 | protein binding | IPI | 23591820 |
| GO:0010484 | H3 histone acetyltransferase activity | IDA | 23652018 |
Phenotypes for MCM3AP Gene
- MGI mutant phenotypes for MCM3AP:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for MCM3AP:
-
- Decreased hepcidin::fluc mRNA expression
- Increased vaccinia virus (VACV) infection
- no effect
- Increased G1 DNA content
- Increased epidermal growth factor (EGF) endocytosis
- Decreased viability
- Decreased NF-kappaB reporter expression
- G0/1 arrest
- Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Decreased Aire reporter expression
Animal Models for MCM3AP Gene
- MGI Knock Outs for MCM3AP:
-
- Mcm3ap Mcm3ap<tm2Imku>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MCM3AP - Select products 50% OFF >
- * MCM3AP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MCM3AP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MCM3AP
-
Santa Cruz Biotechnology (SCBT) CRISPR for MCM3AP
miRNA for MCM3AP Gene
- miRTarBase miRNAs that target MCM3AP
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MCM3AP
- Browse OriGene Inhibitory RNA Products For MCM3AP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCM3AP
Clone Products
- Applied Biological Materials (abm): Clones for MCM3AP - Select products 50% OFF >
- * MCM3AP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MCM3AP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MCM3AP
Cell Line Products
-
Horizon Cell Lines for MCM3AP
No data available for Transcription Factor Targets and HOMER Transcription for MCM3AP Gene
Localization for MCM3AP Gene
Subcellular locations from UniProtKB/Swiss-Prot for MCM3AP Gene
- [Isoform GANP]: Nucleus envelope. Nucleus, nuclear pore complex. Nucleus, nucleoplasm. Chromosome. Note=Predominantly located at the nuclear envelope, facing the nucleus interior (PubMed:20005110, PubMed:21195085, PubMed:23591820). Localization at the nuclear pore complex requires NUP153, TPR and ALYREF/ALY (PubMed:23591820, PubMed:22307388). Also found associated with chromatin (PubMed:23652018). In B-cells, targeted to the immunoglobulin variable region genes (PubMed:23652018). {ECO:0000269 PubMed:20005110, ECO:0000269 PubMed:21195085, ECO:0000269 PubMed:22307388, ECO:0000269 PubMed:23591820, ECO:0000269 PubMed:23652018}.
- [Isoform MCM3AP]: Cytoplasm. Nucleus. Note=Translocates into the nucleus in the presence of MCM3 (PubMed:12226073). Associates with chromatin possibly through interaction with MCM3 (PubMed:12226073). {ECO:0000269 PubMed:12226073}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Nuclear membrane (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS,IBA | 21873635 |
| GO:0005635 | nuclear envelope | IEA | -- |
| GO:0005643 | nuclear pore | IEA | -- |
| GO:0005654 | nucleoplasm | IEA,IDA | -- |
| GO:0005694 | chromosome | IEA | -- |
Pathways & Interactions for MCM3AP Gene
Interacting Proteins for MCM3AP Gene
Selected Interacting proteins:
O60318-GANP_HUMAN
ENSP00000380820
for MCM3AP Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for MCM3AP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002376 | immune system process | IEA | -- |
| GO:0006406 | mRNA export from nucleus | IBA | 21873635 |
| GO:0015031 | protein transport | IEA | -- |
| GO:0016446 | somatic hypermutation of immunoglobulin genes | IDA | 23652018 |
| GO:0016573 | histone acetylation | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for MCM3AP Gene
Transcripts for MCM3AP Gene
mRNA/cDNA for MCM3AP Gene
- 1 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000291688 6403 nts (view in UCSC)
- ENST00000397708 6333 nts (view in UCSC)
- ENST00000426537 876 nts (view in UCSC)
- ENST00000467026 2671 nts (view in UCSC)
- ENST00000479557 364 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MCM3AP - Select products 50% OFF >
- * MCM3AP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MCM3AP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MCM3AP
-
Santa Cruz Biotechnology (SCBT) CRISPR for MCM3AP
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MCM3AP
- Browse OriGene Inhibitory RNA Products For MCM3AP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCM3AP
Clone Products
- Applied Biological Materials (abm): Clones for MCM3AP - Select products 50% OFF >
- * MCM3AP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MCM3AP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MCM3AP
| 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
Expression for MCM3AP Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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, MaxQB, and MOPED for MCM3AP Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MCM3AP
SOURCE GeneReport for Unigene cluster for MCM3AP Gene:
Hs.389037mRNA Expression by UniProt/SwissProt for MCM3AP Gene:
O60318-GANP_HUMAN
Tissue specificity:
Widely expressed (PubMed:11024281). Up-regulated in germinal center B-cells in tonsils (at protein level) (PubMed:11024281).
Evidence on tissue expression from TISSUES for MCM3AP Gene
- Nervous system(4.9)
- Skin(3)
- Muscle(2.8)
- Lymph node(2.5)
- Blood(2.4)
- Intestine(2.3)
- Spleen(2.1)
- Lung(2)
Primer Products
-
OriGene qPCR primer pairs for MCM3AP
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MCM3AP 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MCM3AP 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MCM3AP 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Mcm3ap 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mcm3ap 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MCM3AP 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | MCM3AP 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MCM3AP 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MCM3AP 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mcm3ap 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | mcm3ap 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | xmas-2 31 32 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | F20D12.2 31 32 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SAC3 31 33 |
|
OneToMany |
- Species where no ortholog for MCM3AP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for MCM3AP: view image
Paralogs for MCM3AP Gene
Variants for MCM3AP Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCM3AP Gene
| SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 707837 | Likely Benign: not provided | 46,283,819(-) | C/T | SYNONYMOUS_VARIANT | |
| 717278 | Likely Benign: not provided | 46,242,796(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
| 718693 | Benign: not provided | 46,284,339(-) | G/C | SYNONYMOUS_VARIANT | |
| 722689 | Likely Benign: not provided | 46,243,685(-) | G/A | SYNONYMOUS_VARIANT | |
| 725171 | Conflicting Interpretations: not provided | 46,254,837(-) | G/A | MISSENSE_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCM3AP Gene
Disorders for MCM3AP Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
|
|
| charcot-marie-tooth disease |
|
|
| neuropathy |
|
|
| meier-gorlin syndrome 8 |
|
|
| deafness, autosomal dominant 70 |
|
|
Search MCM3AP in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GANP_HUMAN- Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) [MIM:618124]: An autosomal recessive disorder characterized by early childhood-onset of peripheral sensorimotor neuropathy, progressive distal muscle weakness, atrophy in hands and feet, and gait difficulties, often with loss of ambulation. Most affected individuals also have impaired intellectual development, although some have normal cognition. Additional features may include eye movement abnormalities, claw hands, foot deformities, and scoliosis. {ECO:0000269 PubMed:24123876, ECO:0000269 PubMed:28633435, ECO:0000269 PubMed:28969388, ECO:0000269 PubMed:29982295}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
Additional Disease Information for MCM3AP
No data available for Genatlas for MCM3AP Gene
Publications for MCM3AP Gene
- Functional interaction between the glucocorticoid receptor and GANP/MCM3AP. (PMID: 16914116) Osman W … Zilliacus J (Biochemical and biophysical research communications 2006) 2 3 4 23
- 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 23
- 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
- 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 23
- MCM3AP, a novel acetyltransferase that acetylates replication protein MCM3. (PMID: 11258703) Takei Y … Laskey R (EMBO reports 2001) 3 4 23
ExternalLinks
Products for MCM3AP Gene
- Custom Antibody ServicesOriGene Antibodies for MCM3AP
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- VectorBuilder Virus packaging for MCM3AP CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MCM3AP
- antibodies-online: Show 12 available MCM3AP Antibodies ranked by validation data
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- 12 IF (p) Antibodies (anti-rat)
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- 1 IHC Antibody (anti-mouse)
- antibodies-online: Show 2 available MCM3AP Elisa Kits ranked by validation data
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- antibodies-online: Show 3 available MCM3AP Proteins ranked by validation data
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- Horizon Cell Lines for MCM3AP
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCM3AP
- Signalway Proteins for MCM3AP
Sources for MCM3AP Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
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- (44) Atlas
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- (64) Proteopedia
- (65) MOPED
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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- (77) ESI-BIO
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- (84) COMPARTMENTS
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- (104) diseasecard
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