Summary
Application
ELISA, ICC, IF
Basic Information
Immunogen
MCM3AP (AAH13285, 1 a.a. ~ 100 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.
Formulations & Storage [For reference only, actual COA shall prevail!]
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.
Target
Introduction
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]
Alternative Names
Minichromosome Maintenance Complex Component 3 Associated Protein; Germinal-Centre Associated Nuclear Protein; 80 KDa MCM3-Associated Protein; MCM3 Acetylating Protein; MCM3 Acetyltransferase; MAP80; GANP; MCM3 Minichromosome Maintenance Deficient 3 (S. Cerevisiae) Associated Protein; Minichromosome Maintenance Deficient (S. Cerevisiae) 3-Associated Protein;
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).
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).
Biological Process
mRNA export from nucleus Source: GO_Central
Nucleosome organization Source: UniProtKB
Poly(A)+ mRNA export from nucleus Source: UniProtKB
Protein transport Source: UniProtKB-KW
Somatic hypermutation of immunoglobulin genes Source: UniProtKB
Cellular Location
Isoform GANP:
Nucleus
Nucleus envelope
nuclear pore complex
nucleoplasm
Other locations
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).
Isoform MCM3AP:
Nucleus
Cytoplasm
Note: Translocates into the nucleus in the presence of MCM3 (PubMed:12226073). Associates with chromatin possibly through interaction with MCM3 (PubMed:12226073).
Involvement in disease
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID):
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.