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MCM3AP minichromosome maintenance complex component 3 associated protein [ Homo sapiens (human) ]

Gene ID: 8888, updated on 14-Nov-2024

Summary

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Official Symbol
MCM3APprovided by HGNC
Official Full Name
minichromosome maintenance complex component 3 associated proteinprovided by HGNC
Primary source
HGNC:HGNC:6946
See related
Ensembl:ENSG00000160294 MIM:603294; AllianceGenome:HGNC:6946
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GANP; SAC3; MAP80; PNRIID
Summary
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]
Expression
Ubiquitous expression in lymph node (RPKM 12.6), spleen (RPKM 12.4) and 25 other tissues See more
Orthologs
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Genomic context

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See MCM3AP in Genome Data Viewer
Location:
21q22.3
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (46235133..46286265, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (44617688..44668894, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (47655047..47705525, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47611464-47612078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47612079-47612691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47614165-47614666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47614667-47615166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47621241-47621767 Neighboring gene small nucleolar RNA, C/D box 159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47638552-47639452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47640419-47640920 Neighboring gene lanosterol synthase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13414 Neighboring gene Sharpr-MPRA regulatory region 3947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13416 Neighboring gene MCM3AP antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13418 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47709143-47709725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47709726-47710307 Neighboring gene Sharpr-MPRA regulatory region 4411 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47715289-47715862 Neighboring gene Sharpr-MPRA regulatory region 1466 Neighboring gene chromosome 21 open reading frame 58 Neighboring gene ybeY metalloendoribonuclease Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47736113-47736948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47737784-47738618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47738619-47739453 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:47741059-47741321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13420 Neighboring gene uncharacterized LOC128092249 Neighboring gene pericentrin

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Impact of germinal center-associated nuclear protein polymorphisms on breast cancer risk and prognosis in a Japanese population. Kotani H, et al. Breast Cancer, 2019 Sep. PMID 30810967
  2. MCM3AP is transcribed from a promoter within an intron of the overlapping gene for GANP. Wickramasinghe VO, et al. J Mol Biol, 2011 Feb 25. PMID 21195085, Free PMC Article
  3. The cellular protein MCM3AP is required for inhibition of cellular DNA synthesis by the IE86 protein of human cytomegalovirus. Poole E, et al. PLoS One, 2012. PMID 23094019, Free PMC Article
  4. Two Cases of Periodic Paralysis Associated With MCM3AP Variants. Oishi T, et al. J Clin Neuromuscul Dis, 2023 Sep 1. PMID 37611268
  5. Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport. Gustavsson EK, et al. Muscle Nerve, 2019 Sep. PMID 31241196

See all (96) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Two Cases of Periodic Paralysis Associated With MCM3AP Variants.
    Title: Two Cases of Periodic Paralysis Associated With MCM3AP Variants.
  2. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
    Title: Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
  3. Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.
    Title: Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.
  4. Long noncoding RNA MCM3AP antisense RNA 1 is downregulated in chronic obstructive pulmonary disease and regulates human bronchial smooth muscle cell proliferation.
    Title: Long noncoding RNA MCM3AP antisense RNA 1 is downregulated in chronic obstructive pulmonary disease and regulates human bronchial smooth muscle cell proliferation.
  5. The critical role of germinal center-associated nuclear protein in cell biology, immunohematology, and hematolymphoid oncogenesis.
    Title: The critical role of germinal center-associated nuclear protein in cell biology, immunohematology, and hematolymphoid oncogenesis.
  6. MCM3AP encodes germinal center-associated nuclear protein (GANP), a protein involved in the export of certain messenger RNAs from the nucleus to the cytoplasm
    Title: Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.
  7. The G allele of rs2839178 at the GANP locus was significantly associated with reduced breast cancer risk and longer disease-free survival in breast cancer patients, showing a consistent direction in the association between susceptibility and clinical outcome.
    Title: Impact of germinal center-associated nuclear protein polymorphisms on breast cancer risk and prognosis in a Japanese population.
  8. Circular RNA MCM3AP-AS1 directly bound to miR-194-5p and acted as competing endogenous RNA while subsequently facilitating miR-194-5p target gene FOXA1 expression in hepatocellular carcinoma cells.
    Title: A novel lncRNA MCM3AP-AS1 promotes the growth of hepatocellular carcinoma by targeting miR-194-5p/FOXA1 axis.
  9. The identification of MCM3AP variants in affected individuals from multiple centres establishes it as a disease gene for childhood-onset recessively inherited Charcot-Marie-Tooth neuropathy with intellectual disability.
    Title: MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
  10. MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child
    Title: MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.
Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of minichromosome maintenance complex component 3 associated protein (MCM3AP) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Encapsidation of GANP into virions requires the CA region of HIV-1 Gag and GANP and is associated with HIV-1 genomic RNA PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ44336, FLJ45306, KIAA0572

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone H2AK5 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H2AK9 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H2BK12 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H2BK5 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3 acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone H3K122 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3K14 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3K18 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3K23 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3K27 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3K36 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3K4 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3K56 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H3K9 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H4K12 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H4K16 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H4K5 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H4K8 acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in mRNA export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nucleosome organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in poly(A)+ mRNA export from nucleus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in somatic hypermutation of immunoglobulin genes IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in chromosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol HDA PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
  
part_of nuclear pore nuclear basket IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transcription export complex 2 IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transcription export complex 2 IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
germinal-center associated nuclear protein
Names
80 kDa MCM3-associated protein
MCM3 acetylating protein
MCM3 acetyltransferase
MCM3 import protein
MCM3 minichromosome maintenance deficient 3 associated protein
germinal center-associated nuclear protein
germinal-centre associated nuclear protein
NP_003897.2
XP_005261260.1
XP_005261261.1
XP_005261262.1
XP_054180926.1
XP_054180927.1
XP_054180928.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033881.1 RefSeqGene

    Range
    4712..55190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003906.5 → NP_003897.2  germinal-center associated nuclear protein

    See identical proteins and their annotated locations for NP_003897.2

    Status: REVIEWED

    Source sequence(s)
    AA659734, AJ010089, AL079407, AP000471, BC104958
    Consensus CDS
    CCDS13734.1
    UniProtKB/Swiss-Prot
    C9JL56, O60318, Q2M3C1, Q6PJP6, Q9BSY5, Q9UMT4
    UniProtKB/TrEMBL
    B7Z8Z8
    Related
    ENSP00000291688.1, ENST00000291688.6
    Conserved Domains (5) summary
    cd12443
    Location:435 → 506
    RRM_MCM3A_like; RNA recognition motif in 80 kDa MCM3-associated protein (Map80) and similar proteins
    pfam03399
    Location:686 → 910
    SAC3_GANP; SAC3/GANP/Nin1/mts3/eIF-3 p25 family
    pfam16766
    Location:1164 → 1234
    CID_GANP; Binding region of GANP to ENY2
    pfam16768
    Location:2 → 291
    NupH_GANP; Nucleoporin homology of Germinal-centre associated nuclear protein
    pfam16769
    Location:1262 → 1976
    MCM3AP_GANP; MCM3AP domain of GANP

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    46235133..46286265 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261205.5 → XP_005261262.1  germinal-center associated nuclear protein isoform X1

    See identical proteins and their annotated locations for XP_005261262.1

    UniProtKB/Swiss-Prot
    C9JL56, O60318, Q2M3C1, Q6PJP6, Q9BSY5, Q9UMT4
    UniProtKB/TrEMBL
    B7Z8Z8
    Related
    ENSP00000380820.1, ENST00000397708.1
    Conserved Domains (5) summary
    cd12443
    Location:435 → 506
    RRM_MCM3A_like; RNA recognition motif in 80 kDa MCM3-associated protein (Map80) and similar proteins
    pfam03399
    Location:686 → 910
    SAC3_GANP; SAC3/GANP/Nin1/mts3/eIF-3 p25 family
    pfam16766
    Location:1164 → 1234
    CID_GANP; Binding region of GANP to ENY2
    pfam16768
    Location:2 → 291
    NupH_GANP; Nucleoporin homology of Germinal-centre associated nuclear protein
    pfam16769
    Location:1262 → 1976
    MCM3AP_GANP; MCM3AP domain of GANP

  2. XM_005261204.6 → XP_005261261.1  germinal-center associated nuclear protein isoform X1

    See identical proteins and their annotated locations for XP_005261261.1

    UniProtKB/Swiss-Prot
    C9JL56, O60318, Q2M3C1, Q6PJP6, Q9BSY5, Q9UMT4
    UniProtKB/TrEMBL
    B7Z8Z8
    Conserved Domains (5) summary
    cd12443
    Location:435 → 506
    RRM_MCM3A_like; RNA recognition motif in 80 kDa MCM3-associated protein (Map80) and similar proteins
    pfam03399
    Location:686 → 910
    SAC3_GANP; SAC3/GANP/Nin1/mts3/eIF-3 p25 family
    pfam16766
    Location:1164 → 1234
    CID_GANP; Binding region of GANP to ENY2
    pfam16768
    Location:2 → 291
    NupH_GANP; Nucleoporin homology of Germinal-centre associated nuclear protein
    pfam16769
    Location:1262 → 1976
    MCM3AP_GANP; MCM3AP domain of GANP

  3. XM_005261203.5 → XP_005261260.1  germinal-center associated nuclear protein isoform X1

    See identical proteins and their annotated locations for XP_005261260.1

    UniProtKB/Swiss-Prot
    C9JL56, O60318, Q2M3C1, Q6PJP6, Q9BSY5, Q9UMT4
    UniProtKB/TrEMBL
    B7Z8Z8
    Conserved Domains (5) summary
    cd12443
    Location:435 → 506
    RRM_MCM3A_like; RNA recognition motif in 80 kDa MCM3-associated protein (Map80) and similar proteins
    pfam03399
    Location:686 → 910
    SAC3_GANP; SAC3/GANP/Nin1/mts3/eIF-3 p25 family
    pfam16766
    Location:1164 → 1234
    CID_GANP; Binding region of GANP to ENY2
    pfam16768
    Location:2 → 291
    NupH_GANP; Nucleoporin homology of Germinal-centre associated nuclear protein
    pfam16769
    Location:1262 → 1976
    MCM3AP_GANP; MCM3AP domain of GANP

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    44617688..44668894 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324953.1 → XP_054180928.1  germinal-center associated nuclear protein isoform X1

  2. XM_054324951.1 → XP_054180926.1  germinal-center associated nuclear protein isoform X1

  3. XM_054324952.1 → XP_054180927.1  germinal-center associated nuclear protein isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60318.2 GenPept UniProtKB/Swiss-Prot:O60318

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