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

Summary

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: mouse all
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Genomic context

Location:: 21q22.3

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (46235133..46286265, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (44617688..44668894, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (47655047..47705525, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
These results indicated that the GANP protein is associated with breast cancer resistance.
Title: GANP protein encoded on human chromosome 21/mouse chromosome 10 is associated with resistance to mammary tumor development.

Submit: New GeneRIF Correction See all GeneRIFs (25)

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

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease MedGen: C0007959 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	Compare labs
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development MedGen: C4748283 OMIM: 618124 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

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

SHGC-51870 (e-PCR)
- UniSTS:64022

D21S2038 (e-PCR)
- UniSTS:64023

GDB:313261 (e-PCR)
- UniSTS:156445

SHGC-87728 (e-PCR)
- UniSTS:82028

L17971 (e-PCR)
- UniSTS:43966

G13218 (e-PCR)
- UniSTS:8933

STS-N58265 (e-PCR)
- UniSTS:48870

SHGC-87721 (e-PCR)
- UniSTS:57319

SHGC-52108 (e-PCR)
- UniSTS:68090

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables histone H3 acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
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	PubMed
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	PubMed
located_in cytosol	HDA more info	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 more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of transcription export complex 2	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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

EC 2.3.1.48

XP_005261260.1

EC 2.3.1.48

XP_005261261.1

EC 2.3.1.48

XP_005261262.1

EC 2.3.1.48

XP_054180926.1

EC 2.3.1.48

XP_054180927.1

EC 2.3.1.48

XP_054180928.1

EC 2.3.1.48

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

NG_033881.1 RefSeqGene

Range

4712..55190

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

O60318, Q9UMT4

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_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

46235133..46286265 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

O60318, Q9UMT4

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
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

O60318, Q9UMT4

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
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

O60318, Q9UMT4

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

NC_060945.1 Alternate T2T-CHM13v2.0

Range

44617688..44668894 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054324953.1 → XP_054180928.1 germinal-center associated nuclear protein isoform X1
XM_054324951.1 → XP_054180926.1 germinal-center associated nuclear protein isoform X1
XM_054324952.1 → XP_054180927.1 germinal-center associated nuclear protein isoform X1