Human Gene MCM3AP (uc002zir.1)
  Description: Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.
RefSeq Summary (NM_003906): 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].
Transcript (Including UTRs)
   Position: hg19 chr21:47,655,048-47,705,236 Size: 50,189 Total Exon Count: 28 Strand: -
Coding Region
   Position: hg19 chr21:47,655,182-47,705,200 Size: 50,019 Coding Exon Count: 28 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:47,655,048-47,705,236)mRNA (may differ from genome)Protein (1980 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MCM3A_HUMAN
DESCRIPTION: RecName: Full=80 kDa MCM3-associated protein; AltName: Full=Protein GANP;
FUNCTION: May be involved in the nuclear localization pathway of MCM3.
SUBUNIT: Interacts with MCM3.
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity).
SIMILARITY: Belongs to the SAC3 family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mcm3ap/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MCM3AP
Diseases sorted by gene-association score: intellectual disability (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.02 RPKM in Brain - Cerebellum
Total median expression: 796.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.0036-0.056 Picture PostScript Text
3' UTR -27.90134-0.208 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR005062 - SAC3/GANP/Nin1/mts3/eIF-3-p25

Pfam Domains:
PF03399 - SAC3/GANP family
PF16766 - Binding region of GANP to ENY2
PF16768 - Nucleoporin homology of Germinal-centre associated nuclear protein
PF16769 - MCM3AP domain of GANP

SCOP Domains:
54928 - RNA-binding domain, RBD

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4DHX - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O60318
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups

Biological Process:
GO:0002376 immune system process
GO:0015031 protein transport
GO:0051028 mRNA transport

Cellular Component:
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005643 nuclear pore
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0031965 nuclear membrane


-  Descriptions from all associated GenBank mRNAs
  AK026578 - Homo sapiens cDNA: FLJ22925 fis, clone KAT06983, highly similar to HSA010089 Homo sapiens mRNA for GANP protein.
BC004497 - Homo sapiens minichromosome maintenance complex component 3 associated protein, mRNA (cDNA clone IMAGE:3831362), partial cds.
BC013285 - Homo sapiens minichromosome maintenance complex component 3 associated protein, mRNA (cDNA clone IMAGE:4099986), partial cds.
BC032750 - Homo sapiens cDNA clone IMAGE:5585885, **** WARNING: chimeric clone ****.
AK095181 - Homo sapiens cDNA FLJ37862 fis, clone BRSSN2015707, highly similar to 80 KDA MCM3-ASSOCIATED PROTEIN.
AK127239 - Homo sapiens cDNA FLJ45306 fis, clone BRHIP3004215, highly similar to 80 kda MCM3-associated protein.
AK126313 - Homo sapiens cDNA FLJ44336 fis, clone TRACH3004721, highly similar to 80 kDa MCM3-associated protein.
AK304208 - Homo sapiens cDNA FLJ61702 complete cds, highly similar to 80 kDa MCM3-associated protein.
AB011144 - Homo sapiens mRNA for KIAA0572 protein, partial cds.
AJ010089 - Homo sapiens mRNA for GANP protein.
LF384650 - JP 2014500723-A/192153: Polycomb-Associated Non-Coding RNAs.
JD278886 - Sequence 259910 from Patent EP1572962.
BC104958 - Homo sapiens minichromosome maintenance complex component 3 associated protein, mRNA (cDNA clone MGC:132618 IMAGE:8143961), complete cds.
BC104960 - Homo sapiens minichromosome maintenance complex component 3 associated protein, mRNA (cDNA clone MGC:132620 IMAGE:8143963), complete cds.
AB005543 - Homo sapiens mRNA for MCM3 import factor, complete cds.
LF322844 - JP 2014500723-A/130347: Polycomb-Associated Non-Coding RNAs.
LF322843 - JP 2014500723-A/130346: Polycomb-Associated Non-Coding RNAs.
JD019439 - Sequence 463 from Patent EP1572962.
JD021304 - Sequence 2328 from Patent EP1572962.
JD031433 - Sequence 12457 from Patent EP1572962.
LF322842 - JP 2014500723-A/130345: Polycomb-Associated Non-Coding RNAs.
LF322841 - JP 2014500723-A/130344: Polycomb-Associated Non-Coding RNAs.
LF322840 - JP 2014500723-A/130343: Polycomb-Associated Non-Coding RNAs.
AK022303 - Homo sapiens cDNA FLJ12241 fis, clone MAMMA1001274.
LF322837 - JP 2014500723-A/130340: Polycomb-Associated Non-Coding RNAs.
DQ593818 - Homo sapiens piRNA piR-33930, complete sequence.
LF322836 - JP 2014500723-A/130339: Polycomb-Associated Non-Coding RNAs.
LF322835 - JP 2014500723-A/130338: Polycomb-Associated Non-Coding RNAs.
LF322833 - JP 2014500723-A/130336: Polycomb-Associated Non-Coding RNAs.
HF584748 - Homo sapiens mRNA for partial minichromosome maintenance complex component 3 associated protein (MCM3AP_var1 gene).
LF322832 - JP 2014500723-A/130335: Polycomb-Associated Non-Coding RNAs.
MA620227 - JP 2018138019-A/192153: Polycomb-Associated Non-Coding RNAs.
MA558421 - JP 2018138019-A/130347: Polycomb-Associated Non-Coding RNAs.
MA558420 - JP 2018138019-A/130346: Polycomb-Associated Non-Coding RNAs.
MA558419 - JP 2018138019-A/130345: Polycomb-Associated Non-Coding RNAs.
MA558418 - JP 2018138019-A/130344: Polycomb-Associated Non-Coding RNAs.
MA558417 - JP 2018138019-A/130343: Polycomb-Associated Non-Coding RNAs.
MA558414 - JP 2018138019-A/130340: Polycomb-Associated Non-Coding RNAs.
MA558413 - JP 2018138019-A/130339: Polycomb-Associated Non-Coding RNAs.
MA558412 - JP 2018138019-A/130338: Polycomb-Associated Non-Coding RNAs.
MA558410 - JP 2018138019-A/130336: Polycomb-Associated Non-Coding RNAs.
MA558409 - JP 2018138019-A/130335: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: GANP, KIAA0572, MAP80, MCM3A_HUMAN, NM_003906, NP_003897, O60318, Q2M3C1, Q9UMT4
UCSC ID: uc002zir.1
RefSeq Accession: NM_003906
Protein: O60318 (aka MCM3A_HUMAN)
CCDS: CCDS13734.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003906.3
exon count: 28CDS single in 3' UTR: no RNA size: 6113
ORF size: 5943CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 12086.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.