MCM3AP

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:22307388, PubMed:23591820). 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).

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.

None

The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.

Belongs to the SAC3 family.

Widely expressed (PubMed:11024281). Up-regulated in germinal center B-cells in tonsils (at protein level) (PubMed:11024281).

• Isoform GANP
• Nucleus envelope
• Nucleus
• Nuclear pore complex
• Nucleus
• Nucleoplasm
• Chromosome
• 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:22307388, PubMed:23591820). Also found associated with chromatin (PubMed:23652018). In B-cells, targeted to the immunoglobulin variable region genes (PubMed:23652018).
• Isoform MCM3AP
• Cytoplasm
• Nucleus
• Translocates into the nucleus in the presence of MCM3 (PubMed:12226073). Associates with chromatin possibly through interaction with MCM3 (PubMed:12226073).

GANP, KIAA0572, MAP80, MCM3AP, Germinal-center associated nuclear protein, 80 kDa MCM3-associated protein, MCM3 acetylating protein, MCM3 acetyltransferase

• entrezGene:8888
• omim:603294
• swissprot:O60318

Proteins

Immunology & Infectious Disease

218405Da