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 ... See more...

Aliases for MDM1 Gene

Aliases for MDM1 Gene

  • Mdm1 Nuclear Protein 2 3 5
  • Nuclear Protein MDM1 3 4
  • Mdm4, Transformed 3T3 Cell Double Minute 1, P53 Binding Protein (Mouse) 2
  • Mdm4, Transformed 3T3 Cell Double Minute 1, P53 Binding Protein 3
  • Mdm1 Nuclear Protein Homolog (Mouse) 2
  • Nuclear Protein Double Minute 1 3

External Ids for MDM1 Gene

Previous GeneCards Identifiers for MDM1 Gene

  • GC12M068204
  • GC08U900012
  • GC12M066975
  • GC12M068688
  • GC12M065739

Summaries for MDM1 Gene

Entrez Gene Summary for MDM1 Gene

  • 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]

GeneCards Summary for MDM1 Gene

MDM1 (Mdm1 Nuclear Protein) is a Protein Coding gene. Diseases associated with MDM1 include Spinocerebellar Ataxia, Autosomal Recessive 20 and Retinal Degeneration.

UniProtKB/Swiss-Prot Summary for MDM1 Gene

  • Microtubule-binding protein that negatively regulates centriole duplication. Binds to and stabilizes microtubules (PubMed:26337392).

Additional gene information for MDM1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MDM1 Gene

Genomics for MDM1 Gene

GeneHancer (GH) Regulatory Elements for MDM1 Gene

Promoters and enhancers for MDM1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MDM1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MDM1

Top Transcription factor binding sites by QIAGEN in the MDM1 gene promoter:
  • AML1a
  • CUTL1
  • MRF-2
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Sox9
  • TBP
  • USF-1
  • USF1

Genomic Locations for MDM1 Gene

Genomic Locations for MDM1 Gene
chr12:68,272,443-68,332,381
(GRCh38/hg38)
Size:
59,939 bases
Orientation:
Minus strand
chr12:68,666,223-68,726,161
(GRCh37/hg19)
Size:
59,939 bases
Orientation:
Minus strand

Genomic View for MDM1 Gene

Genes around MDM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MDM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MDM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MDM1 Gene

Proteins for MDM1 Gene

  • Protein details for MDM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TC05-MDM1_HUMAN
    Recommended name:
    Nuclear protein MDM1
    Protein Accession:
    Q8TC05
    Secondary Accessions:
    • B4DM65
    • E7EPQ3
    • O43406
    • Q8WTV9
    • Q9NR04

    Protein attributes for MDM1 Gene

    Size:
    714 amino acids
    Molecular mass:
    80735 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MDM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MDM1 Gene

Post-translational modifications for MDM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MDM1 Gene

Domains & Families for MDM1 Gene

Gene Families for MDM1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MDM1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MDM1 Gene

GenScript: Design optimal peptide antigens:
  • Nuclear protein MDM1 (MDM1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TC05

UniProtKB/Swiss-Prot:

MDM1_HUMAN :
  • Belongs to the MDM1 family.
Family:
  • Belongs to the MDM1 family.
genes like me logo Genes that share domains with MDM1: view

Function for MDM1 Gene

Molecular function for MDM1 Gene

UniProtKB/Swiss-Prot Function:
Microtubule-binding protein that negatively regulates centriole duplication. Binds to and stabilizes microtubules (PubMed:26337392).

Phenotypes From GWAS Catalog for MDM1 Gene

Gene Ontology (GO) - Molecular Function for MDM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IMP 26337392
genes like me logo Genes that share ontologies with MDM1: view
genes like me logo Genes that share phenotypes with MDM1: view

Animal Model Products

CRISPR Products

miRNA for MDM1 Gene

miRTarBase miRNAs that target MDM1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MDM1 Gene

Localization for MDM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MDM1 Gene

Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localizes to the centriole lumen. {ECO:0000269 PubMed:26337392}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MDM1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MDM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 26337392
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 26337392
GO:0005814 centriole IDA,IEA 26337392
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with MDM1: view

Pathways & Interactions for MDM1 Gene

PathCards logo

SuperPathways for MDM1 Gene

No Data Available

Interacting Proteins for MDM1 Gene

;

Gene Ontology (GO) - Biological Process for MDM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045494 photoreceptor cell maintenance IEA --
GO:0046600 negative regulation of centriole replication IMP 26337392
GO:0060041 retina development in camera-type eye IBA 21873635
genes like me logo Genes that share ontologies with MDM1: view

No data available for Pathways by source and SIGNOR curated interactions for MDM1 Gene

Drugs & Compounds for MDM1 Gene

No Compound Related Data Available

Transcripts for MDM1 Gene

mRNA/cDNA for MDM1 Gene

11 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MDM1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3:
SP4: - - - -
SP5: - - -
SP6: -
SP7:
SP8: -
SP9: - -
SP10: -
SP11:

ExUns: 18 ^ 19a · 19b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for MDM1 Gene

GeneLoc Exon Structure for
MDM1

Expression for MDM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MDM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MDM1 Gene

This gene is overexpressed in Colon - Sigmoid (x5.0).

Protein differential expression in normal tissues from HIPED for MDM1 Gene

This gene is overexpressed in Neutrophil (33.9), Peripheral blood mononuclear cells (18.1), and Tlymphocyte (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MDM1 Gene



Protein tissue co-expression partners for MDM1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MDM1

SOURCE GeneReport for Unigene cluster for MDM1 Gene:

Hs.655702

Evidence on tissue expression from TISSUES for MDM1 Gene

  • Nervous system(4.5)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with MDM1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MDM1 Gene

Orthologs for MDM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MDM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MDM1 31 30
  • 99.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MDM1 31 30
  • 87.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MDM1 31 30
  • 87.01 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mdm1 17 31 30
  • 77.95 (n)
rat
(Rattus norvegicus)
Mammalia Mdm1 30
  • 77.83 (n)
oppossum
(Monodelphis domestica)
Mammalia MDM1 31
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MDM1 31
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves MDM1 31 30
  • 60.55 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MDM1 31
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mdm1 30
  • 55.39 (n)
zebrafish
(Danio rerio)
Actinopterygii mdm1 31 30
  • 49.73 (n)
OneToOne
Species where no ortholog for MDM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MDM1 Gene

ENSEMBL:
Gene Tree for MDM1 (if available)
TreeFam:
Gene Tree for MDM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MDM1: view image

Paralogs for MDM1 Gene

No data available for Paralogs for MDM1 Gene

Variants for MDM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MDM1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
741084 Likely Benign: not provided 68,321,609(-) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
rs17224810 - p.Val383Ile
rs2306392 - p.Pro552Leu
rs2306393 - p.Arg489His
rs962976 - p.Thr103Ile

Additional dbSNP identifiers (rs#s) for MDM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MDM1 Gene

Variant ID Type Subtype PubMed ID
esv2480424 CNV deletion 19546169
esv3629846 CNV gain 21293372

Variation tolerance for MDM1 Gene

Residual Variation Intolerance Score: 62.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.07; 80.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MDM1 Gene

Human Gene Mutation Database (HGMD)
MDM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MDM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MDM1 Gene

Disorders for MDM1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MDM1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 20
  • scar20
retinal degeneration
  • degeneration of retina
good syndrome
  • thymoma with hypogammaglobulinemia
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search MDM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MDM1

genes like me logo Genes that share disorders with MDM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MDM1 Gene

Publications for MDM1 Gene

  1. MDM1 is a microtubule-binding protein that negatively regulates centriole duplication. (PMID: 26337392) Van de Mark D … Stearns T (Molecular biology of the cell 2015) 3 4 54
  2. Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci. (PMID: 22365631) Greenwood TA … Kelsoe JR (Biological psychiatry 2012) 3 41 54
  3. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 2 3 54
  4. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B … Gibbs RA (Analytical biochemistry 1996) 2 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for MDM1 Gene

Sources for MDM1 Gene