• Gene id: 4194

Gene Summary

• Gene Symbol: MDM4   Gene   UCSC   Ensembl
• Aliases: BMFS6, HDMX, MDMX, MRP1
• Gene name: MDM4 regulator of p53
• Alternate names: protein Mdm4, MDM4 protein variant G, MDM4 protein variant Y, MDM4, p53 regulator, MDM4-related protein 1, Mdm4 p53 binding protein homolog, double minute 4, human homolog of; p53-binding protein, mdm2-like p53-binding protein, protein Mdmx,
• Gene location: 1q32.1 (204516376: 204558119)     Exons: 13     NC_000001.11
• Gene summary(Entrez): This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhib
• OMIM: 602704

Protein Summary

• Protein general information: O15151  
  • Name: Protein Mdm4 (Double minute 4 protein) (Mdm2 like p53 binding protein) (Protein Mdmx) (p53 binding protein Mdm4)
  • Length: 490  
  • Mass: 54864
  • Tissue specificity: Expressed in all tissues tested with high levels in thymus.
• Sequence:

  MTSFSTSAQCSTSDSACRISPGQINQVRPKLPLLKILHAAGAQGEMFTVKEVMHYLGQYIMVKQLYDQQEQHMVY
  CGGDLLGELLGRQSFSVKDPSPLYDMLRKNLVTLATATTDAAQTLALAQDHSMDIPSQDQLKQSAEESSTSRKRT
  TEDDIPTLPTSEHKCIHSREDEDLIENLAQDETSRLDLGFEEWDVAGLPWWFLGNLRSNYTPRSNGSTDLQTNQD
  VGTAIVSDTTDDLWFLNESVSEQLGVGIKVEAADTEQTSEEVGKVSDKKVIEVGKNDDLEDSKSLSDDTDVEVTS
  EDEWQCTECKKFNSPSKRYCFRCWALRKDWYSDCSKLTHSLSTSDITAIPEKENEGNDVPDCRRTISAPVVRPKD
  AYIKKENSKLFDPCNSVEFLDLAHSSESQETISSMGEQLDNLSEQRTDTENMEDCQNLLKPCSLCEKRPRDGNII
  HGRTGHLVTCFHCARRLKKAGASCPICKKEIQLVIKVFIA

• Structural information:
  • Protein Domains: (26..10-)
    (/note="SWIB"-)
  • Interpro: IPR015458  IPR016495  IPR036885  IPR003121  IPR001876   IPR036443  IPR001841  IPR013083  
  • Prosite: PS01358 PS50199 PS50089
  • PDB: 2CR8 2MWY 2N06 2N0U 2N0W 2N14 2VJE 2VJF 2VYR 3DAB 3EQY 3FDO 3FE7 3FEA 3JZO 3JZP 3JZQ 3LBJ 3MQR 3U15 4RXZ 5MNJ 5UML 5VK1 6Q9Q 6Q9S 6Q9U 6Q9W 6Q9Y
  • PDBsum: 2CR8 2MWY 2N06 2N0U 2N0W 2N14 2VJE 2VJF 2VYR 3DAB 3EQY 3FDO 3FE7 3FEA 3JZO 3JZP 3JZQ 3LBJ 3MQR 3U15 4RXZ 5MNJ 5UML 5VK1 6Q9Q 6Q9S 6Q9U 6Q9W 6Q9Y
  • DIP: 24199
  • STRING: ENSP00000356150
• Other Databases: GeneCards:  MDM4  Malacards:  MDM4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019899	enzyme binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0071157	negative regulation of cell cycle arrest	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003283	atrial septum development	ISS	biological process
GO:0003170	heart valve development	ISS	biological process
GO:0003181	atrioventricular valve morphogenesis	ISS	biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0003281	ventricular septum development	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0065003	protein-containing complex assembly	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042177	negative regulation of protein catabolic process	IMP	biological process
GO:0030330	DNA damage response, signal transduction by p53 class mediator	IEP	biological process
GO:0005634	nucleus	NAS	cellular component
GO:0071456	cellular response to hypoxia	IEP	biological process
GO:0050821	protein stabilization	IEP	biological process
GO:0008270	zinc ion binding	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05206	MicroRNAs in cancer
hsa04115	p53 signaling pathway

Diseases

Associated diseases	References
Retinoblastoma	KEGG:H01513
Retinoblastoma	KEGG:H01513
Alzheimer's disease	PMID:23861893
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray