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Aliases for MDM1 Gene

Aliases for MDM1 Gene

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

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 nuclear protein similar to the mouse double minute 1 protein. The mouse gene is located in double minute (DM) chromatin particles, is amplified in the mouse transformed 3T3 cell line, and the encoded protein is able to bind to p53. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for MDM1 Gene

MDM1 (Mdm1 Nuclear Protein) is a Protein Coding gene. Diseases associated with MDM1 include Retinitis Pigmentosa 3.

UniProtKB/Swiss-Prot for MDM1 Gene

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

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MDM1 Gene

Genomics for MDM1 Gene

Regulatory Elements for MDM1 Gene

Enhancers for MDM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G068223 1.4 FANTOM5 Ensembl ENCODE 29.7 +109.0 109006 0.8 ELF3 PKNOX1 ATF1 TBL1XR1 RB1 WRNIP1 ARID4B SIN3A BMI1 ZNF2 MDM1 IL22 LINC02384 NUP107 LINC02421 IL26 GC12P068213
GH12G068331 1.5 Ensembl ENCODE dbSUPER 21.7 -0.6 -639 3.4 HDGF PKNOX1 ATF1 ARID4B E2F7 SIN3A ZNF48 YY1 GLIS2 ELK1 MDM1 NUP107 ENSG00000256273 LINC02421 GC12P068332 PIR51506
GH12G068361 2 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -33.0 -32958 7.0 HDGF PKNOX1 FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A YY1 ZNF143 FOS MDM1 LINC02384 RPL10P12 SNORA70G RPL7P42 LOC100507250 NUP107 RAP1B IFNG ENSG00000256273
GH12G068358 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -27.2 -27164 2.2 PKNOX1 ATF1 FEZF1 BRCA1 ZBTB7B YY1 ZNF121 GATA2 CBX5 ZNF143 MDM1 LINC02384 RAP1B LOC100507250 NUP107 RPL7P42 RPL10P12 SNORA70G ENSG00000256273 GC12P068422
GH12G068609 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -280.3 -280290 6.7 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 NUP107 RAP1B FRS2 CPM LINC02384 MDM1 MDM2 IFNG GC12P068625
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MDM1 on UCSC Golden Path with GeneCards custom track

Promoters for MDM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000053593 81 1401 HDGF PKNOX1 ATF1 ARID4B E2F7 SIN3A ZNF48 YY1 GLIS2 ZNF143

Genomic Location for MDM1 Gene

Chromosome:
12
Start:
68,272,443 bp from pter
End:
68,332,381 bp from pter
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

Protein Domains for MDM1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MDM1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for MDM1 Gene

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).

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

Inhibitory RNA Products

Flow Cytometry 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 5

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

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:0046600 negative regulation of centriole replication IMP 26337392
GO:0060041 retina development in camera-type eye IBA --
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

Transcripts for MDM1 Gene

Unigene Clusters for MDM1 Gene

Mdm1 nuclear protein homolog (mouse):
Representative Sequences:

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
ECgene alternative splicing isoforms for
MDM1

Expression for MDM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for MDM1 Gene



Protein tissue co-expression partners for MDM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MDM1 Gene:

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

Primer Products

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 34 35
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia MDM1 34 35
  • 87.4 (n)
cow
(Bos Taurus)
Mammalia MDM1 34 35
  • 87.01 (n)
mouse
(Mus musculus)
Mammalia Mdm1 34 16 35
  • 77.95 (n)
rat
(Rattus norvegicus)
Mammalia Mdm1 34
  • 77.83 (n)
oppossum
(Monodelphis domestica)
Mammalia MDM1 35
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MDM1 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves MDM1 34 35
  • 60.55 (n)
lizard
(Anolis carolinensis)
Reptilia MDM1 35
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mdm1 34
  • 55.39 (n)
zebrafish
(Danio rerio)
Actinopterygii mdm1 34 35
  • 49.73 (n)
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)

Paralogs for MDM1 Gene

No data available for Paralogs for MDM1 Gene

Variants for MDM1 Gene

Sequence variations from dbSNP and Humsavar for MDM1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000044607 -- 68,303,994(+) GCAAT(A/T)TGGGA intron-variant
rs1000072076 -- 68,311,142(+) TTTGT(C/T)TTATT intron-variant
rs1000111893 -- 68,305,439(+) CAAAA(A/G)GCATC intron-variant
rs1000144359 -- 68,305,141(+) TAGCA(C/T)ATAAA intron-variant
rs1000326555 -- 68,312,079(+) AAAAA(C/T)TGGGG intron-variant

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)

Relevant External Links for MDM1 Gene

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

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

Disorders for MDM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MDM1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 3
  • rp3
- elite association - COSMIC cancer census association via MalaCards
Search MDM1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MDM1

Genetic Association Database (GAD)
MDM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Mol. Biol. Cell 2015) 3 4 64
  2. Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci. (PMID: 22365631) Greenwood T.A. … Kelsoe J.R. (Biol. Psychiatry 2012) 3 46 64
  3. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 2 3 64
  4. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3 64
  5. Proteomic discovery of MNT as a novel interacting partner of E3 ubiquitin ligase E6AP and a key mediator of myeloid differentiation. (PMID: 26506232) Kapoor I. … Trivedi A.K. (Oncotarget 2016) 3 64

Products for MDM1 Gene

Sources for MDM1 Gene

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