• Gene id: 56890

Gene Summary

• Gene Symbol: MDM1   Gene   UCSC   Ensembl
• Gene name: Mdm1 nuclear protein
• Alternate names: nuclear protein MDM1, Mdm4, transformed 3T3 cell double minute 1, p53 binding protein, nuclear protein double minute 1,
• Gene location: 12q15 (68332413: 68294565)     Exons: 17     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 613813

Protein Summary

• Protein general information: Q8TC05  
  • Name: Nuclear protein MDM1
  • Length: 714  
  • Mass: 80735
• Sequence:

  MPVRFKGLSEYQRNFLWKKSYLSESCNSSVGRKYPWAGLRSDQLGITKEPSFISKRRVPYHDPQISKSLEWNGAI
  SESNVVASPEPEAPETPKSQEAEQKDVTQERVHSLEASRVPKRTRSHSADSRAEGASDVENNEGVTNHTPVNENV
  ELEHSTKVLSENVDNGLDRLLRKKAGLTVVPSYNALRNSEYQRQFVWKTSKETAPAFAANQVFHNKSQFVPPFKG
  NSVIHETEYKRNFKGLSPVKEPKLRNDLRENRNLETVSPERKSNKIDDRLKLEAEMELKDLHQPKRKLTPWKHQR
  LGKVNSEYRAKFLSPAQYLYKAGAWTHVKGNMPNQVKELREKAEFYRKRVQGTHFSRDHLNQILSDSNCCWDVSS
  TTSSEGTVSSNIRALDLAGDPTSHKTLQKCPSTEPEEKGNIVEEQPQKNTTEKLGVSAPTIPVRRRLAWDTENTS
  EDVQKQPGEKEEEDDNEEEGDRKTGKQAFMGEQEKLDVREKSKADKMKEGSDSSVSSEKGGRLPTPKLRELGGIQ
  RTHHDLTTPAVGGAVLVSPSKMKPPAPEQRKRMTSQDCLETSKNDFTKKESRAVSLLTSPAAGIKTVDPLPLRED
  SEDNIHKFAEATLPVSKIPKYPTNPPGQLPSPPHVPSYWHPSRRIQGSLRDPEFQHNVGKARMNNLQLPQHEAFN
  DEDEDRLSEISARSAASSLRAFQTLARAKKRKENFWGKT

• Structural information:
  • Interpro: IPR029136  
  • STRING: ENSP00000302537
• Other Databases: GeneCards:  MDM1  Malacards:  MDM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060041	retina development in camera-type eye	IBA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0008017	microtubule binding	IMP	molecular function
GO:0046600	negative regulation of centriole replication	IMP	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0046600	negative regulation of centriole replication	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0005814	centriole	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray