Minichromosome Maintenance 3-Associated Protein

Alternative Names

  • MCM3AP
  • MCM3-Associated Protein, 80-KD
  • MAP80
  • Germinal Center-Associated Nuclear Protein
  • GANP
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OMIM Number

603294

NCBI Gene ID

8888

Uniprot ID

O60318

Length

51,168 bases

No. of Exons

29

No. of isoforms

2

Protein Name

Germinal-center associated nuclear protein

Molecular Mass

218405 Da

Amino Acid Count

1980

Genomic Location

chr21:46,235,130-46,286,297

Gene Map Locus
21q22.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003906.5:c.2609T>CLebanonchr21:46270420PathogenicPathogenicPeripheral Neuropathy, Autosomal Recessive, with or without Impaired Intellectual DevelopmentNG_033881.1:g.19903T>C; NM_003906.5:c.2609T>C; NP_003897.2:p.Leu870Ser1569074977562054
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