Human Gene MDM1 (uc001stz.2)
  Description: Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.
RefSeq Summary (NM_017440): This gene encodes a microtubule-binding nuclear protein that localizes to the centrioles of dividing cells and differentiating multiciliated cells and negatively regulates centriole duplication. The encoded protein is closely associated with the centriole barrel, and resides in the centriole lumen. Naturally-occurring mutations in the orthologous mouse gene are associated with age-related retinal degeneration. [provided by RefSeq, Feb 2019].
Transcript (Including UTRs)
   Position: hg19 chr12:68,688,346-68,726,161 Size: 37,816 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr12:68,689,034-68,726,025 Size: 36,992 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:68,688,346-68,726,161)mRNA (may differ from genome)Protein (714 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MDM1_HUMAN
DESCRIPTION: RecName: Full=Nuclear protein MDM1;
SUBCELLULAR LOCATION: Nucleus (By similarity).
SIMILARITY: Belongs to the MDM1 family.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MDM1
CDC HuGE Published Literature: MDM1
Positive Disease Associations: Attention Deficit Disorder with Hyperactivity , Bipolar Disorder , Coronary Disease , Diabetes Mellitus , gamma-Glutamylcyclotransferase
Related Studies:
  1. Attention Deficit Disorder with Hyperactivity
    , , . [PubMed 0]
  2. Bipolar Disorder
    Tiffany A Greenwood et al. Biological psychiatry 2012, Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci., Biological psychiatry. [PubMed 22365631]
    These results suggest that aspects of temperament might define subtypes of BD that are more clinically and genetically homogenous, which might aid in the identification of predisposing genetic variants.
  3. Coronary Disease
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: MDM1
Diseases sorted by gene-association score: retinitis pigmentosa 3 (6)

-  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: 12.41 RPKM in Colon - Sigmoid
Total median expression: 155.39 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 -57.70136-0.424 Picture PostScript Text
3' UTR -141.32688-0.205 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
  Pfam Domains:
PF15501 - Nuclear protein MDM1

ModBase Predicted Comparative 3D Structure on Q8TC05
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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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008017 microtubule binding

Biological Process:
GO:0046600 negative regulation of centriole replication
GO:0060041 retina development in camera-type eye

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule


-  Descriptions from all associated GenBank mRNAs
  KJ899258 - Synthetic construct Homo sapiens clone ccsbBroadEn_08652 MDM1 gene, encodes complete protein.
KJ902913 - Synthetic construct Homo sapiens clone ccsbBroadEn_12307 MDM1 gene, encodes complete protein.
LF208897 - JP 2014500723-A/16400: Polycomb-Associated Non-Coding RNAs.
AK026745 - Homo sapiens cDNA: FLJ23092 fis, clone LNG07245, highly similar to AF007130 Homo sapiens clone 23750 unknown mRNA.
BC028355 - Homo sapiens Mdm1 nuclear protein homolog (mouse), mRNA (cDNA clone MGC:26064 IMAGE:4827410), complete cds.
AF007130 - Homo sapiens clone 23750 unknown mRNA, partial cds.
BC034945 - Homo sapiens Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse), mRNA (cDNA clone IMAGE:4821794).
JD289735 - Sequence 270759 from Patent EP1572962.
AK297311 - Homo sapiens cDNA FLJ58512 complete cds, highly similar to Homo sapiens Mdm4, transformed 3T3 cell double minute 1, p53 binding protein, transcript variant 1, mRNA.
LF323874 - JP 2014500723-A/131377: Polycomb-Associated Non-Coding RNAs.
LF323873 - JP 2014500723-A/131376: Polycomb-Associated Non-Coding RNAs.
CQ873868 - Sequence 287 from Patent WO2004076622.
DD413705 - Regulation of Mammalian Cells.
LF323872 - JP 2014500723-A/131375: Polycomb-Associated Non-Coding RNAs.
BC010622 - Homo sapiens Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse), mRNA (cDNA clone IMAGE:3874354), with apparent retained intron.
AF267851 - Homo sapiens nuclear protein double minute 1 mRNA, complete cds.
JD117965 - Sequence 98989 from Patent EP1572962.
JD562406 - Sequence 543430 from Patent EP1572962.
JD428584 - Sequence 409608 from Patent EP1572962.
AK314461 - Homo sapiens cDNA, FLJ95264, highly similar to Homo sapiens Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse) (MDM1), transcript variant 2, mRNA.
BC022042 - Homo sapiens Mdm1 nuclear protein homolog (mouse), mRNA (cDNA clone IMAGE:4670016), complete cds.
JD152061 - Sequence 133085 from Patent EP1572962.
JD405751 - Sequence 386775 from Patent EP1572962.
MA559451 - JP 2018138019-A/131377: Polycomb-Associated Non-Coding RNAs.
MA559450 - JP 2018138019-A/131376: Polycomb-Associated Non-Coding RNAs.
MA559449 - JP 2018138019-A/131375: Polycomb-Associated Non-Coding RNAs.
MA444474 - JP 2018138019-A/16400: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: MDM1_HUMAN, NM_017440, NP_059136, O43406, Q8TC05, Q8WTV9, Q9NR04
UCSC ID: uc001stz.2
RefSeq Accession: NM_017440
Protein: Q8TC05 (aka MDM1_HUMAN)
CCDS: CCDS8983.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017440.4
exon count: 14CDS single in 3' UTR: no RNA size: 2976
ORF size: 2145CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4490.00frame shift in genome: no % Coverage: 99.76
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.