MCM3AP (minichromosome maintenance complex component 3 associated protein)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8888
Gene name Gene Name - the full gene name approved by the HGNC.
Minichromosome maintenance complex component 3 associated protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MCM3AP
Synonyms (NCBI Gene) Gene synonyms aliases
GANP, MAP80, PNRIID, SAC3
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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,
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs373674344 C>T Pathogenic Missense variant, coding sequence variant
rs483352869 C>T Pathogenic Missense variant, coding sequence variant
rs779248881 C>T Pathogenic Missense variant, coding sequence variant
rs1218260846 CGCAGCAGGG>-,CGCAGCAGGGCGCAGCAGGG Pathogenic Coding sequence variant, frameshift variant
rs1569072024 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(50)
miRTarBase ID miRNA Experiments Reference
MIRT052573 hsa-let-7a-5p CLASH 23622248
MIRT050147 hsa-miR-26a-5p CLASH 23622248
MIRT046814 hsa-miR-222-3p CLASH 23622248
MIRT042228 hsa-miR-484 CLASH 23622248
MIRT039880 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003682 Function Chromatin binding IDA 23652018
GO:0004402 Function Histone acetyltransferase activity IDA 23652018
GO:0004402 Function Histone acetyltransferase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603294 6946 ENSG00000160294
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O60318
Protein name Germinal-center associated nuclear protein (GANP) (EC 2.3.1.48) (80 kDa MCM3-associated protein) (MCM3 acetylating protein) (MCM3AP) (EC 2.3.1.-) (MCM3 acetyltransferase)
Protein function [Isoform GANP]: As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:20005110, PubMed:20384790, PubMed:22307388, PubMed:23591820). Through the acetylation of histones, affects t
PDB 4DHX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16768 NupH_GANP 2 → 291 Nucleoporin homology of Germinal-centre associated nuclear protein Family
PF03399 SAC3_GANP 635 → 929 SAC3/GANP family Family
PF16766 CID_GANP 1164 → 1234 Binding region of GANP to ENY2 Family
PF16769 MCM3AP_GANP 1262 → 1976 MCM3AP domain of GANP Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:11024281). Up-regulated in germinal center B-cells in tonsils (at protein level) (PubMed:11024281). {ECO:0000269|PubMed:11024281}.
Sequence 
MNPTNPFSGQQPSAFSASSSNVGTLPSKPPFRFGQPSLFGQNSTLSGKSSGFSQVSSFPA
SSGVSHSSSVQTLGFTQTSSVGPFSGLEHTSTFVATSGPSSSSVLGNTGFSFKSPTSVGA
FPSTSAFGQEAGEIVNSGFGKTEFSFKPLENAVFKPILGAESEPEKTQSQIASGFFTFSH
PISSAPGGLAPFSFPQVTSSSATTSNFTFSKPVSSNNSLSAFTPALSNQNVEEEKRGPKS
IFGSSNNSFSSFPVSSAVLGEPFQASKAGVRQGCEEAVSQVEPLPSLMKGLKRKEDQDRS
PRRHGHEPAEDSDPLSRGDHPPDKRPVRLNRPRGGTLFGRTIQDVFKSNKEVGRLGNKEA
KKETGFVESAESDHMAIPGGNQSVLAPSRIPGVNKEEETESREKKEDSLRGTPARQSNRS
ESTDSLGGLSPSEVTAIQCKNIPDYLNDRTILENHFGKIAKVQRIFTRRSKKLAVVHFFD
HASAALARKKGKSLHKDMAIFWHRKKISPNKKPFSLKEKKPGDGEVSPSTEDAPFQHSPL
GKAAGRTGASSLLNKSSPVKKPSLLKAHQFEGDSFDSASEGSEGLGPCVLSLSTLIGTVA
ETSKEKYRLLDQRDRIMRQARVKRTDLDKARTFVGTCLDMCPEKERYMRETRSQLSVFEV
VPGTDQVDHAAAVKEYSRSSADQEEPLPHELRPLPVLSRTMDYLVTQIMDQKEGSLRDWY
DFVWNRTRGIRKDITQQHLCDPLTVSLIEKCTRFHIHCAHFMCEEPMSSFDAKINNENMT
KCLQSLKEMYQDLRNKGVFCASEAEFQGYNVLLSLNKGDILREVQQFHPAVRNSSEVKFA
VQAFAALNSNNFVRFFKLVQSASYLNACLLHCYFSQIRKDALRALNFAYTVSTQRSTIFP
LDGVVRMLLFRDCEEATDFLTCHGLTVSDGCVELNRSAFLEPEGLSKTRKSVFITRKLTV
SVGEIVNGGPLPPVPRHTPVCSFNSQNKYIGESLAAELPVSTQRPGSDTVGGGRGEECGV
EPDAPLSSLPQSLPAPAPSPVPLPPVLALTPSVAPSLFQLSVQPEPPPPEPVPMYSDEDL
AQVVDELIQEALQRDCEEVGSAGAAYAAAALGVSNAAMEDLLTAATTGILRHIAAEEVSK
ERERREQERQRAEEERLKQERELVLSELSQGLAVELMERVMMEFVRETCSQELKNAVETD
QRVRVARCCEDVCAHLVDLFLVEEIFQTAKETLQELQCFCKYLQRWREAVTARKKLRRQM
RAFPAAPCCVDVSDRLRALAPSAECPIAEENLARGLLDLGHAGRLGISCTRLRRLRNKTA
HQMKVQHFYQQLLSDVAWASLDLPSLVAEHLPGRQEHVFWKLVLVLPDVEEQSPESCGRI
LANWLKVKFMGDEGSVDDTSSDAGGIQTLSLFNSLSSKGDQMISVNVCIKVAHGALSDGA
IDAVETQKDLLGASGLMLLLPPKMKSEDMAEEDVYWLSALLQLKQLLQAKPFQPALPLVV
LVPSPGGDAVEKEVEDGLMLQDLVSAKLISDYTVTEIPDTINDLQGSTKVLQAVQWLVSH
CPHSLDLCCQTLIQYVEDGIGHEFSGRFFHDRRERRLGGLASQEPGAIIELFNSVLQFLA
SVVSSEQLCDLSWPVTEFAEAGGSRLLPHLHWNAPEHLAWLKQAVLGFQLPQMDLPPLGA
PWLPVCSMVVQYASQIPSSRQTQPVLQSQVENLLHRTYCRWKSKSPSPVHGAGPSVMEIP
WDDLIALCINHKLRDWTPPRLPVTSEALSEDGQICVYFFKNDLKKYDVPLSWEQARLQTQ
KELQLREGRLAIKPFHPSANNFPIPLLHMHRNWKRSTECAQEGRIPSTEDLMRGASAEEL
LAQCLSSSLLLEKEENKRFEDQLQQWLSEDSGAFTDLTSLPLYLPQTLVSLSHTIEPVMK
TSVTTSPQSDMMREQLQLSEATGTCLGERLKHLERLIRSSREEEVASELHLSALLDMVDI
Sequence length 1980
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Peripheral neuropathy, with or without impaired intellectual development peripheral neuropathy, autosomal recessive, with or without impaired intellectual development rs373674344, rs1569072024, rs1569074977, rs483352869, rs1569086477, rs1569073058, rs1569074992 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Periodontitis Periodontitis N/A N/A GWAS
Testicular Germ Cell Tumor Testicular germ cell tumor N/A N/A GWAS
Show/Hide Text Mining Associations (36)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
3 Methylglutaconic Aciduria Type I Inhibit 19686285
Atherosclerosis Associate 37266599
Atrial Fibrillation Associate 31894294
Carcinoma Endometrioid Stimulate 34256796
Carcinoma Hepatocellular Associate 31761783, 31836002, 31985002
Carcinoma Non Small Cell Lung Stimulate 34346845
Carcinoma Squamous Cell Inhibit 31985002
Charcot Marie Tooth Disease Associate 28633435
Chromosomal Instability Associate 19686285
Chromosome 21 ring Associate 35361402