MCM3AP
Germinal-center associated nuclear protein
Also known as: GANP, GANP_HUMAN, KIAA0572, Map80, SAC3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O60318
- Gene
- MCM3AP
- Ensembl
- ENSG00000160294
- Chromosome
- 21
- Canonical length
- 1980 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
- Subcellular location
- Nucleoplasm,Nuclear membrane,Cytosol
OverviewNCBI 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, 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]
Canonical amino-acid sequenceUniProt
1980 residues, UniProt reviewed canonical sequence.
>O60318|MCM3AP
1 MNPTNPFSGQ QPSAFSASSS NVGTLPSKPP FRFGQPSLFG QNSTLSGKSS GFSQVSSFPA
61 SSGVSHSSSV QTLGFTQTSS VGPFSGLEHT STFVATSGPS SSSVLGNTGF SFKSPTSVGA
121 FPSTSAFGQE AGEIVNSGFG KTEFSFKPLE NAVFKPILGA ESEPEKTQSQ IASGFFTFSH
181 PISSAPGGLA PFSFPQVTSS SATTSNFTFS KPVSSNNSLS AFTPALSNQN VEEEKRGPKS
241 IFGSSNNSFS SFPVSSAVLG EPFQASKAGV RQGCEEAVSQ VEPLPSLMKG LKRKEDQDRS
301 PRRHGHEPAE DSDPLSRGDH PPDKRPVRLN RPRGGTLFGR TIQDVFKSNK EVGRLGNKEA
361 KKETGFVESA ESDHMAIPGG NQSVLAPSRI PGVNKEEETE SREKKEDSLR GTPARQSNRS
421 ESTDSLGGLS PSEVTAIQCK NIPDYLNDRT ILENHFGKIA KVQRIFTRRS KKLAVVHFFD
481 HASAALARKK GKSLHKDMAI FWHRKKISPN KKPFSLKEKK PGDGEVSPST EDAPFQHSPL
541 GKAAGRTGAS SLLNKSSPVK KPSLLKAHQF EGDSFDSASE GSEGLGPCVL SLSTLIGTVA
601 ETSKEKYRLL DQRDRIMRQA RVKRTDLDKA RTFVGTCLDM CPEKERYMRE TRSQLSVFEV
661 VPGTDQVDHA AAVKEYSRSS ADQEEPLPHE LRPLPVLSRT MDYLVTQIMD QKEGSLRDWY
721 DFVWNRTRGI RKDITQQHLC DPLTVSLIEK CTRFHIHCAH FMCEEPMSSF DAKINNENMT
781 KCLQSLKEMY QDLRNKGVFC ASEAEFQGYN VLLSLNKGDI LREVQQFHPA VRNSSEVKFA
841 VQAFAALNSN NFVRFFKLVQ SASYLNACLL HCYFSQIRKD ALRALNFAYT VSTQRSTIFP
901 LDGVVRMLLF RDCEEATDFL TCHGLTVSDG CVELNRSAFL EPEGLSKTRK SVFITRKLTV
961 SVGEIVNGGP LPPVPRHTPV CSFNSQNKYI GESLAAELPV STQRPGSDTV GGGRGEECGV
1021 EPDAPLSSLP QSLPAPAPSP VPLPPVLALT PSVAPSLFQL SVQPEPPPPE PVPMYSDEDL
1081 AQVVDELIQE ALQRDCEEVG SAGAAYAAAA LGVSNAAMED LLTAATTGIL RHIAAEEVSK
1141 ERERREQERQ RAEEERLKQE RELVLSELSQ GLAVELMERV MMEFVRETCS QELKNAVETD
1201 QRVRVARCCE DVCAHLVDLF LVEEIFQTAK ETLQELQCFC KYLQRWREAV TARKKLRRQM
1261 RAFPAAPCCV DVSDRLRALA PSAECPIAEE NLARGLLDLG HAGRLGISCT RLRRLRNKTA
1321 HQMKVQHFYQ QLLSDVAWAS LDLPSLVAEH LPGRQEHVFW KLVLVLPDVE EQSPESCGRI
1381 LANWLKVKFM GDEGSVDDTS SDAGGIQTLS LFNSLSSKGD QMISVNVCIK VAHGALSDGA
1441 IDAVETQKDL LGASGLMLLL PPKMKSEDMA EEDVYWLSAL LQLKQLLQAK PFQPALPLVV
1501 LVPSPGGDAV EKEVEDGLML QDLVSAKLIS DYTVTEIPDT INDLQGSTKV LQAVQWLVSH
1561 CPHSLDLCCQ TLIQYVEDGI GHEFSGRFFH DRRERRLGGL ASQEPGAIIE LFNSVLQFLA
1621 SVVSSEQLCD LSWPVTEFAE AGGSRLLPHL HWNAPEHLAW LKQAVLGFQL PQMDLPPLGA
1681 PWLPVCSMVV QYASQIPSSR QTQPVLQSQV ENLLHRTYCR WKSKSPSPVH GAGPSVMEIP
1741 WDDLIALCIN HKLRDWTPPR LPVTSEALSE DGQICVYFFK NDLKKYDVPL SWEQARLQTQ
1801 KELQLREGRL AIKPFHPSAN NFPIPLLHMH RNWKRSTECA QEGRIPSTED LMRGASAEEL
1861 LAQCLSSSLL LEKEENKRFE DQLQQWLSED SGAFTDLTSL PLYLPQTLVS LSHTIEPVMK
1921 TSVTTSPQSD MMREQLQLSE ATGTCLGERL KHLERLIRSS REEEVASELH LSALLDMVDILocalizationUniProt · AlphaFold · HPA
Whether an antibody against MCM3AP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.45
- Highest tissue expression
- 37 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 37 nTPM
- tongue: 27 nTPM
- thymus: 20 nTPM
- tonsil: 20 nTPM
- lymph node: 20 nTPM
- appendix: 19 nTPM
Single-cell type
- cardiomyocytes: 98 nCPM
- microglia: 84 nCPM
- epicardial cells: 75 nCPM
- adrenal cortex cells: 72 nCPM
- adipocytes: 71 nCPM
- renal collecting duct intercalated cells: 70 nCPM
Immune cell
- memory CD8 T-cell: 2.6 nTPM
- MAIT T-cell: 2.4 nTPM
- gdT-cell: 2.3 nTPM
- total PBMC: 2.1 nTPM
- classical monocyte: 2 nTPM
- intermediate monocyte: 1.9 nTPM
Brain region
- choroid plexus: 65 nTPM
- white matter: 58 nTPM
- cerebral cortex: 53 nTPM
- basal ganglia: 52 nTPM
- thalamus: 52 nTPM
- medulla oblongata: 52 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MCM3AP.
Disease | AllUniProt
Conditions MCM3AP is implicated in, by any mechanism.
- Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) MIM:618124
Disease | GeneticClinVar
107 pathogenic / likely-pathogenic of 1,669 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
- Inborn genetic diseases
- MCM3AP-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.49
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.04
- DepMap mean gene effect
- -1.39
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- mRNA export from nucleus
- nucleosome organization
- poly(A)+ mRNA export from nucleus
- protein transport
- somatic hypermutation of immunoglobulin genes
Molecular functions
- chromatin binding
- histone acetyltransferase activity
- histone binding
- histone H3 acetyltransferase activity
- nucleic acid binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Proteasome component (PCI) domain
- SAC3/GANP/THP3, conserved domain
- RNA-binding domain superfamily
- SAC3/GANP/THP3
- SAC3/GANP family
- Germinal-centre associated nuclear protein, MCM3AP domain
- Germinal-centre associated nuclear protein, nucleoporin homology domain
- Germinal-centre associated nuclear protein, CID domain
- MCM3AP, RNA recognition motif
- Binding region of GANP to ENY2
- Nucleoporin homology of Germinal-centre associated nuclear protein
- MCM3AP domain of GANP
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MCM3AP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MCM3AP as an antibody target. Whether an autoantibody or antibody against MCM3AP could matter depends on whether native MCM3AP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MCM3AP is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MCM3AP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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