MCM3AP Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | MCM3AP |
| Official Name | minichromosome maintenance complex component 3 associated protein [Source:HGNC Symbol;Acc:HGNC:6946] |
| Ensembl ID | ENSG00000160294 |
| Bio databases IDs | |
| Aliases | minichromosome maintenance complex component 3 associated protein, germinal-centre associated nuclear protein |
| Synonyms | GANP, MAP80, minichromosome maintenance complex component 3 associated protein, Mini chromosome maintenance deficient 3 associated, PNRIID, SAC3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MCM3AP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- histone binding
- RNA recognition motif (RRM) superfamily
- SAC3/GANP family
- histone acetyltransferase
- RNA recognition motif
- Nucleoporin FG repeat region
- chromatin binding
- enzyme
- protein binding
- Binding region of GANP to ENY2
- MCM3AP domain of GANP
- Nucleoporin homology of Germinal-centre associated nuclear protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive peripheral neuropathy without impaired intellectual development
- hereditary disorder
- autosomal recessive peripheral neuropathy with or without impaired intellectual development
- autosomal recessive peripheral neuropathy with impaired intellectual development
- lymphomagenesis
- pervasive developmental disorder
- infection by Influenza A virus subtype H1N1
regulates
- histone H2B
role in cell
- synthesis in
- organization
- breakage in
- homologous recombination in
- development
- CSN5i-3 sensitivity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoplasm
- nuclear envelope
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MCM3AP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mRNA export from nucleus
- nucleosome organization
- protein transport
- poly(A)+ mRNA export from nucleus
- somatic hypermutation of immunoglobulin genes
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear membrane
- cytoplasm
- cytosol
- chromosome
- transcription export complex 2
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- nucleic acid binding
- histone acetyltransferase activity
- H3 histone acetyltransferase activity
- protein binding
- histone binding
- chromatin binding