| Tag | Content |
|---|---|
| Uniprot ID | P23804; Q61040; Q64330; Q91XK7; |
| Entrez ID | 17246 |
| Genbank protein ID | BAB23502.1; BAC40470.1; AAH50902.1; AAB09030.1; AAA91167.1; CAA41684.1; AAB09031.1; |
| Genbank nucleotide ID | NM_001288586.2; NM_010786.4; |
| Ensembl protein ID | ENSMUSP00000020408; ENSMUSP00000100898; |
| Ensembl nucleotide ID | ENSMUSG00000020184 |
| Gene name | E3 ubiquitin-protein ligase Mdm2 |
| Gene symbol | Mdm2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 17526734 |
| Functional description | E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome (PubMed:15195100, PubMed:21804542). Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain (By similarity). Also acts as a ubiquitin ligase E3 toward itself, ARRB1 and ARBB2 (PubMed:11588219). Permits the nuclear export of p53/TP53 (By similarity). Promotes proteasome-dependent ubiquitin-independent degradation of retinoblastoma RB1 protein (By similarity). Inhibits DAXX-mediated apoptosis by inducing its ubiquitination and degradation (By similarity). Component of the TRIM28/KAP1-MDM2-p53/TP53 complex involved in stabilizing p53/TP53 (By similarity). Also component of the TRIM28/KAP1-ERBB4-MDM2 complex which links growth factor and DNA damage response pathways (By similarity). Mediates ubiquitination and subsequent proteasome degradation of DYRK2 in nucleus (By similarity). Ubiquitinates IGF1R and SNAI1 and promotes them to proteasomal degradation (By similarity). Ubiquitinates DCX, leading to DCX degradation and reduction of the dendritic spine density of olfactory bulb granule cells (PubMed:25088421). Ubiquitinates DLG4, leading to proteasomal degradation of DLG4 which is required for AMPA receptor endocytosis (PubMed:14642282). |
| Sequence | MCNTNMSVST EGAASTSQIP ASEQETLVRP KPLLLKLLKS VGAQNDTYTM KEIIFYIGQY 60 IMTKRLYDEK QQHIVYCSND LLGDVFGVPS FSVKEHRKIY AMIYRNLVAV SQQDSGTSLS 120 ESRRQPEGGS DLKDPLQAPP EEKPSSSDLI SRLSTSSRRR SISETEENTD ELPGERHRKR 180 RRSLSFDPSL GLCELREMCS GGSSSSSSSS SESTETPSHQ DLDDGVSEHS GDCLDQDSVS 240 DQFSVEFEVE SLDSEDYSLS DEGHELSDED DEVYRVTVYQ TGESDTDSFE GDPEISLADY 300 WKCTSCNEMN PPLPSHCKRC WTLRENWLPD DKGKDKVEIS EKAKLENSAQ AEEGLDVPDG 360 KKLTENDAKE PCAEEDSEEK AEQTPLSQES DDYSQPSTSS SIVYSSQESV KELKEETQDK 420 DESVESSFSL NAIEPCVICQ GRPKNGCIVH GKTGHLMSCF TCAKKLKKRN KPCPVCRQPI 480 QMIVLTYFN 489 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | MDM2 | 540378 | F1MYE6 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | MDM2 | 102173163 | A0A452FBR9 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | MDM2 | 4193 | Q00987 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Mdm2 | 17246 | P23804 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | MDM2 | 742141 | A0A2I3TD93 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | Mdm2 | 314856 | A0A0G2JVC1 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | mdm2 | B0R0S9 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0002039 | p53 binding | ISO |
| GO:0002039 | p53 binding | IPI |
| GO:0004842 | ubiquitin-protein transferase activity | ISO |
| GO:0004842 | ubiquitin-protein transferase activity | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0008097 | 5S rRNA binding | ISS |
| GO:0008097 | 5S rRNA binding | ISO |
| GO:0008270 | zinc ion binding | ISO |
| GO:0016874 | ligase activity | ISO |
| GO:0019789 | SUMO transferase activity | ISO |
| GO:0019899 | enzyme binding | ISO |
| GO:0019904 | protein domain specific binding | ISO |
| GO:0031625 | ubiquitin protein ligase binding | ISO |
| GO:0033612 | receptor serine/threonine kinase binding | ISO |
| GO:0042802 | identical protein binding | ISO |
| GO:0042975 | peroxisome proliferator activated receptor binding | ISO |
| GO:0043021 | ribonucleoprotein complex binding | ISS |
| GO:0043021 | ribonucleoprotein complex binding | ISO |
| GO:0043130 | ubiquitin binding | ISS |
| GO:0043130 | ubiquitin binding | ISO |
| GO:0047485 | protein N-terminus binding | ISO |
| GO:0061630 | ubiquitin protein ligase activity | ISO |
| GO:0061630 | ubiquitin protein ligase activity | IDA |
| GO:0061663 | NEDD8 ligase activity | ISO |
| GO:0097110 | scaffold protein binding | IPI |
| GO:0097718 | disordered domain specific binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISO |
| GO:0001568 | blood vessel development | IMP |
| GO:0001974 | blood vessel remodeling | IMP |
| GO:0002027 | regulation of heart rate | IGI |
| GO:0003170 | heart valve development | IGI |
| GO:0003181 | atrioventricular valve morphogenesis | IGI |
| GO:0003203 | endocardial cushion morphogenesis | IGI |
| GO:0003203 | endocardial cushion morphogenesis | IMP |
| GO:0003281 | ventricular septum development | IGI |
| GO:0003283 | atrial septum development | IGI |
| GO:0006511 | ubiquitin-dependent protein catabolic process | ISO |
| GO:0006511 | ubiquitin-dependent protein catabolic process | IDA |
| GO:0006511 | ubiquitin-dependent protein catabolic process | IMP |
| GO:0006977 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | ISO |
| GO:0007089 | traversing start control point of mitotic cell cycle | IDA |
| GO:0007507 | heart development | IGI |
| GO:0007507 | heart development | IMP |
| GO:0010039 | response to iron ion | IEA |
| GO:0010468 | regulation of gene expression | IMP |
| GO:0010628 | positive regulation of gene expression | ISO |
| GO:0010629 | negative regulation of gene expression | ISO |
| GO:0010955 | negative regulation of protein processing | ISO |
| GO:0010977 | negative regulation of neuron projection development | ISO |
| GO:0016567 | protein ubiquitination | ISS |
| GO:0016567 | protein ubiquitination | ISO |
| GO:0016925 | protein sumoylation | IEA |
| GO:0018205 | peptidyl-lysine modification | ISO |
| GO:0031648 | protein destabilization | ISO |
| GO:0032026 | response to magnesium ion | IEA |
| GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | ISO |
| GO:0034504 | protein localization to nucleus | ISO |
| GO:0042176 | regulation of protein catabolic process | ISO |
| GO:0042220 | response to cocaine | IEA |
| GO:0043066 | negative regulation of apoptotic process | ISO |
| GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | ISO |
| GO:0043278 | response to morphine | IEA |
| GO:0043518 | negative regulation of DNA damage response, signal transduction by p53 class mediator | ISO |
| GO:0045184 | establishment of protein localization | ISO |
| GO:0045472 | response to ether | IEA |
| GO:0045787 | positive regulation of cell cycle | IGI |
| GO:0045892 | negative regulation of transcription, DNA-templated | ISO |
| GO:0045931 | positive regulation of mitotic cell cycle | ISO |
| GO:0046827 | positive regulation of protein export from nucleus | ISO |
| GO:0048545 | response to steroid hormone | IEA |
| GO:0051149 | positive regulation of muscle cell differentiation | IMP |
| GO:0051603 | proteolysis involved in cellular protein catabolic process | ISO |
| GO:0051865 | protein autoubiquitination | ISO |
| GO:0060411 | cardiac septum morphogenesis | IGI |
| GO:0065003 | protein-containing complex assembly | ISO |
| GO:0070301 | cellular response to hydrogen peroxide | IEA |
| GO:0071157 | negative regulation of cell cycle arrest | ISO |
| GO:0071301 | cellular response to vitamin B1 | IEA |
| GO:0071312 | cellular response to alkaloid | IEA |
| GO:0071363 | cellular response to growth factor stimulus | IEA |
| GO:0071375 | cellular response to peptide hormone stimulus | IEA |
| GO:0071391 | cellular response to estrogen stimulus | IEA |
| GO:0071456 | cellular response to hypoxia | IEA |
| GO:0071480 | cellular response to gamma radiation | ISO |
| GO:0071494 | cellular response to UV-C | IEA |
| GO:0072717 | cellular response to actinomycin D | ISO |
| GO:1901797 | negative regulation of signal transduction by p53 class mediator | ISO |
| GO:1902254 | negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator | ISO |
| GO:1904404 | response to formaldehyde | IEA |
| GO:1904707 | positive regulation of vascular smooth muscle cell proliferation | ISO |
| GO:1904754 | positive regulation of vascular associated smooth muscle cell migration | ISO |
| GO:1990000 | amyloid fibril formation | ISO |
| GO:1990785 | response to water-immersion restraint stress | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005730 | nucleolus | ISO |
| GO:0005730 | nucleolus | IDA |
| GO:0005737 | cytoplasm | ISO |
| GO:0005737 | cytoplasm | IDA |
| GO:0005829 | cytosol | ISO |
| GO:0005886 | plasma membrane | ISO |
| GO:0032991 | protein-containing complex | ISO |
| GO:0045202 | synapse | ISO |
| GO:0016604 | nuclear body | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-112314 | Neurotransmitter receptors and postsynaptic signal transmission | IEA |
| R-MMU-112315 | Transmission across Chemical Synapses | IEA |
| R-MMU-112316 | Neuronal System | IEA |
| R-MMU-1257604 | PIP3 activates AKT signaling | IEA |
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-1640170 | Cell Cycle | IEA |
| R-MMU-198323 | AKT phosphorylates targets in the cytosol | IEA |
| R-MMU-212436 | Generic Transcription Pathway | IEA |
| R-MMU-2262752 | Cellular responses to stress | IEA |
| R-MMU-2559580 | Oxidative Stress Induced Senescence | IEA |
| R-MMU-2559583 | Cellular Senescence | IEA |
| R-MMU-2559585 | Oncogene Induced Senescence | IEA |
| R-MMU-2990846 | SUMOylation | IEA |
| R-MMU-3108232 | SUMO E3 ligases SUMOylate target proteins | IEA |
| R-MMU-3232142 | SUMOylation of ubiquitinylation proteins | IEA |
| R-MMU-3700989 | Transcriptional Regulation by TP53 | IEA |
| R-MMU-392499 | Metabolism of proteins | IEA |
| R-MMU-399719 | Trafficking of AMPA receptors | IEA |
| R-MMU-399721 | Glutamate binding, activation of AMPA receptors and synaptic plasticity | IEA |
| R-MMU-5633007 | Regulation of TP53 Activity | IEA |
| R-MMU-5688426 | Deubiquitination | IEA |
| R-MMU-5689880 | Ub-specific processing proteases | IEA |
| R-MMU-597592 | Post-translational protein modification | IEA |
| R-MMU-6804756 | Regulation of TP53 Activity through Phosphorylation | IEA |
| R-MMU-6804757 | Regulation of TP53 Degradation | IEA |
| R-MMU-6804760 | Regulation of TP53 Activity through Methylation | IEA |
| R-MMU-6806003 | Regulation of TP53 Expression and Degradation | IEA |
| R-MMU-69541 | Stabilization of p53 | IEA |
| R-MMU-69563 | p53-Dependent G1 DNA Damage Response | IEA |
| R-MMU-69580 | p53-Dependent G1/S DNA damage checkpoint | IEA |
| R-MMU-69615 | G1/S DNA Damage Checkpoints | IEA |
| R-MMU-69620 | Cell Cycle Checkpoints | IEA |
| R-MMU-73857 | RNA Polymerase II Transcription | IEA |
| R-MMU-74160 | Gene expression (Transcription) | IEA |
| R-MMU-8878159 | Transcriptional regulation by RUNX3 | IEA |
| R-MMU-8941858 | Regulation of RUNX3 expression and activity | IEA |
| R-MMU-8953897 | Cellular responses to external stimuli | IEA |
| R-MMU-9006925 | Intracellular signaling by second messengers | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0024 | Alternative initiation |
| KW-0025 | Alternative splicing |
| KW-0963 | Cytoplasm |
| KW-0479 | Metal-binding |
| KW-0539 | Nucleus |
| KW-0597 | Phosphoprotein |
| KW-0656 | Proto-oncogene |
| KW-1185 | Reference proteome |
| KW-0808 | Transferase |
| KW-0832 | Ubl conjugation |
| KW-0833 | Ubl conjugation pathway |
| KW-0862 | Zinc |
| KW-0863 | Zinc-finger |