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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
q32.1
Chromosome location (bp)
204516379 - 204558120
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Along with MDM2, contributes to TP53 regulation 1. Inhibits p53/TP53- and TP73/p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Inhibits degradation of MDM2. Can reverse MDM2-targeted degradation of TP53 while maintaining suppression of TP53 transactivation and apoptotic functions....show less
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from 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 inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0002039[p53 binding] GO:0003170[heart valve development] GO:0003181[atrioventricular valve morphogenesis] GO:0003203[endocardial cushion morphogenesis] GO:0003281[ventricular septum development] GO:0003283[atrial septum development] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0016043[cellular component organization] GO:0017053[transcription repressor complex] GO:0019899[enzyme binding] GO:0030330[DNA damage response, signal transduction by p53 class mediator] GO:0042177[negative regulation of protein catabolic process] GO:0043066[negative regulation of apoptotic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0050821[protein stabilization] GO:0051726[regulation of cell cycle] GO:0065003[protein-containing complex assembly] GO:0065008[regulation of biological quality] GO:0071456[cellular response to hypoxia]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0002039[p53 binding] GO:0003170[heart valve development] GO:0003181[atrioventricular valve morphogenesis] GO:0003203[endocardial cushion morphogenesis] GO:0003281[ventricular septum development] GO:0003283[atrial septum development] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0016043[cellular component organization] GO:0017053[transcription repressor complex] GO:0019899[enzyme binding] GO:0030330[DNA damage response, signal transduction by p53 class mediator] GO:0042177[negative regulation of protein catabolic process] GO:0043066[negative regulation of apoptotic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0050821[protein stabilization] GO:0051726[regulation of cell cycle] GO:0065003[protein-containing complex assembly] GO:0065008[regulation of biological quality] GO:0071456[cellular response to hypoxia]
Q68DC0 [Direct mapping] MDM4 protein variant G; MDM4 protein variant Y; Protein Mdm4; Uncharacterized protein DKFZp781B1423; cDNA FLJ56709, highly similar to Mdm4 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0002039[p53 binding] GO:0003170[heart valve development] GO:0003181[atrioventricular valve morphogenesis] GO:0003203[endocardial cushion morphogenesis] GO:0003281[ventricular septum development] GO:0003283[atrial septum development] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0016043[cellular component organization] GO:0017053[transcription repressor complex] GO:0019899[enzyme binding] GO:0030330[DNA damage response, signal transduction by p53 class mediator] GO:0042177[negative regulation of protein catabolic process] GO:0043066[negative regulation of apoptotic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0050821[protein stabilization] GO:0051726[regulation of cell cycle] GO:0065003[protein-containing complex assembly] GO:0065008[regulation of biological quality] GO:0071456[cellular response to hypoxia]
Q68DC0 [Direct mapping] MDM4 protein variant G; MDM4 protein variant Y; Protein Mdm4; Uncharacterized protein DKFZp781B1423; cDNA FLJ56709, highly similar to Mdm4 protein
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Human disease related genes Cancers Cancers of eye, brain, and central nervous system Cardiovascular diseases Hematologic diseases
The Human Protein Atlas project is funded
