MCM3AP Gene

Name	minichromosome maintenance complex component 3 associated protein
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. [provided by RefSeq, Jan 2014]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMCM3 acetylating protein (MCM3AP) is a cellular regulator of DNA replication that functions by binding to and acetylating the MCM3 subunit of the pre‐replication complex, thereby inhibiting the initiation of DNA synthesis. In cell‐free replication assays, wild‐type MCM3AP—but not its acetylase‐deficient mutant—effectively prevents replication initiation despite its ability to bind chromatin through interaction with MCM3."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Moreover, although the MCM3AP coding sequence is entirely contained within the much larger GANP (germinal center–associated nuclear protein) gene, alternative promoters generate distinct proteins that differ in subcellular localization and function, with MCM3AP being a truncated form that specifically mediates acetylation of MCM3."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the setting of viral infection, human cytomegalovirus utilizes this host factor; the viral immediate–early protein IE86 requires MCM3AP to exert its inhibitory effect on cellular DNA synthesis, acting in a licensing‐independent manner to arrest cell cycle progression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nClinical genetic studies have further implicated MCM3AP in human disease. Mutations in the MCM3AP gene have been linked to defects in mRNA export and genomic instability that underlie autosomal recessive peripheral neuropathies—often manifesting as Charcot–Marie–Tooth disease accompanied by intellectual disability. Detailed analyses have revealed that loss‐of‐function or null variants lead to severe depletion of the protein and more pronounced neurodegenerative features, whereas mutations that perturb critical residues (for example, in the mRNA binding Sac3 domain) can result in a milder phenotype. Such genotype–phenotype correlations underscore the importance of MCM3AP function in maintaining DNA replication fidelity and proper RNA metabolism."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Yoshinori Takei, Magdalena Assenberg, Gozoh Tsujimoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The MCM3 acetylase MCM3AP inhibits initiation, but not elongation, of DNA replication via interaction with MCM3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.C200442200"}], "href": "https://doi.org/10.1074/jbc.C200442200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12226073"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12226073"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Vihandha O Wickramasinghe, Paul I A McMurtrie, Jackie Marr, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MCM3AP is transcribed from a promoter within an intron of the overlapping gene for GANP."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Biol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jmb.2010.12.035"}], "href": "https://doi.org/10.1016/j.jmb.2010.12.035"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21195085"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21195085"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Emma Poole, Mark Bain, Linda Teague, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The cellular protein MCM3AP is required for inhibition of cellular DNA synthesis by the IE86 protein of human cytomegalovirus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0045686"}], "href": "https://doi.org/10.1371/journal.pone.0045686"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23094019"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23094019"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Susanne A Gatz, Daniela Salles, Eva-Maria Jacobsen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22939"}], "href": "https://doi.org/10.1002/humu.22939"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26615982"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26615982"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awx138"}], "href": "https://doi.org/10.1093/brain/awx138"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28633435"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28633435"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Rosa Woldegebriel, Jouni Kvist, Noora Andersson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddaa051"}], "href": "https://doi.org/10.1093/hmg/ddaa051"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32202298"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32202298"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Hai-Lin Dong, Qiao Wei, Jia-Qi Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Peripher Nerv Syst (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jns.12377"}], "href": "https://doi.org/10.1111/jns.12377"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32319184"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32319184"}]}]}]}
Synonyms	PNRIID, MAP80, GANP, SAC3
Proteins	GANP_HUMAN
NCBI Gene ID	8888
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

MCM3AP has 6,397 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 122 datasets.

Click the + buttons to view associations for MCM3AP from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

MCM3AP Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of MCM3AP gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of MCM3AP gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of MCM3AP gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of MCM3AP gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of MCM3AP gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of MCM3AP gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of MCM3AP gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of MCM3AP gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of MCM3AP gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of MCM3AP gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of MCM3AP gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of MCM3AP gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with MCM3AP gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with MCM3AP protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with MCM3AP gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of MCM3AP gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of MCM3AP gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of MCM3AP gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with MCM3AP gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing MCM3AP protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of MCM3AP gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing MCM3AP protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing MCM3AP protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing MCM3AP protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing MCM3AP protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with MCM3AP protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with MCM3AP protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of MCM3AP gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with MCM3AP gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with MCM3AP gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of MCM3AP protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving MCM3AP gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with MCM3AP gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with MCM3AP gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with MCM3AP gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with MCM3AP gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with MCM3AP gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at MCM3AP gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of MCM3AP gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of MCM3AP gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.