MCM2
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 2012]
Full Name
Minichromosome Maintenance Complex Component 2
Function
Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for the entry in S phase and for cell division. Plays a role in terminally differentiated hair cells development of the cochlea and induces cells apoptosis.
Biological Process
Apoptotic process Source: UniProtKB
Cellular response to interleukin-4 Source: Ensembl
Cochlea development Source: UniProtKB
DNA replication Source: ProtInc
DNA replication initiation Source: UniProtKB
DNA unwinding involved in DNA replication Source: ComplexPortal
Double-strand break repair via break-induced replication Source: GO_Central
Mitotic DNA replication initiation Source: GO_Central
Negative regulation of DNA helicase activity Source: InterPro
Nucleosome assembly Source: Ensembl
Regulation of DNA-dependent DNA replication initiation Source: ComplexPortal
Cellular Location
Nucleus
Other locations
Chromosome
Note: Associated with chromatin before the formation of nuclei and detaches from it as DNA replication progresses.
Involvement in disease
Deafness, autosomal dominant, 70 (DFNA70):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA70 is characterized by slowly progressive, postlingual hearing impairment.
PTM
Phosphorylated on Ser-108 by ATR in proliferating cells. Ser-108 proliferation is increased by genotoxic agents. Ser-40 is mediated by the CDC7-DBF4 and CDC7-DBF4B complexes, while Ser-53 phosphorylation is only mediated by the CDC7-DBF4 complex. Phosphorylation by the CDC7-DBF4 complex during G1/S phase is required for the initiation of DNA replication.
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Datasheet