| Tag | Content |
|---|---|
| Uniprot ID | O88559; Q3U491; Q8CI72; Q91UZ7; |
| Entrez ID | 17283 |
| Genbank protein ID | BAA74964.1; AAC78843.1; BAE41971.1; AAC79939.1; BAE32542.1; EDL33234.1; EDL33236.1; AAD37498.1; AAC26001.1; AAF01352.1; AAC79938.1; AAD38333.1; AAH36287.1; |
| Genbank nucleotide ID | NM_001168490.1; NM_001168489.1; NM_008583.2; NM_001168488.1; |
| Ensembl protein ID | ENSMUSP00000077272; ENSMUSP00000058149; ENSMUSP00000144028; ENSMUSP00000109128; ENSMUSP00000078306; ENSMUSP00000143830; ENSMUSP00000143849; ENSMUSP00000144549; ENSMUSP00000144083; ENSMUSP00000109132; |
| Ensembl nucleotide ID | ENSMUSG00000106695; ENSMUSG00000024947; |
| Gene name | Menin |
| Gene symbol | Men1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 17927973 |
| Functional description | Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression (By similarity). May be involved in normal hematopoiesis through the activation of HOXA9 expression. May be involved in DNA repair. |
| Sequence | MGLKAAQKTL FPLRSIDDVV RLFAAELGRE EPDLVLLSLV LGFVEHFLAV NRVIPTNVPE 60 LTFQPSPAPD PPGGLTYFPV ADLSIIAALY ARFTAQIRGA VDLSLYPREG GVSSRELVKK 120 VSDVIWNSLS RSYFKDRAHI QSLFSFITGT KLDSSGVAFA VVGACQALGL RDVHLALSED 180 HAWVVFGPNG EQTAEVTWHG KGNEDRRGQT VNAGVAERSW LYLKGSYMRC DRKMEVAFMV 240 CAINPSIDLH TDSLELLQLQ QKLLWLLYDL GHLERYPMAL GNLADLEELE PTPGRPDPLT 300 LYHKGIASAK TYYQDEHIYP YMYLAGYHCR NRNVREALQA WADTATVIQD YNYCREDEEI 360 YKEFFEVAND VIPNLLKEAA SLLETGEERT GEQAQGTQGQ GSALQDPECF AHLLRFYDGI 420 CKWEEGSPTP VLHVGWATFL VQSLGRFEGQ VRQKVHIVSR EAEAAEAEEP WGDEAREGRR 480 RGPRRESKPE EPPPPKKPAL DKGPGSGQSA GSGPPRKTSG TVPGTTRGGQ EVGNAAQAPA 540 PAASPPPEGP VLTFQSEKMK GMKELLVATK INSSAIKLQL TAQSQVQMKK QKVSTPSDYT 600 LSFLKRQRKG L 611 |
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.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000400 | four-way junction DNA binding | ISO |
| GO:0000403 | Y-form DNA binding | ISO |
| GO:0000403 | Y-form DNA binding | IBA |
| GO:0003677 | DNA binding | IDA |
| GO:0003682 | chromatin binding | ISO |
| GO:0003682 | chromatin binding | IDA |
| GO:0003682 | chromatin binding | IBA |
| GO:0003690 | double-stranded DNA binding | ISO |
| GO:0003690 | double-stranded DNA binding | IBA |
| GO:0005515 | protein binding | IPI |
| GO:0030674 | protein binding, bridging | ISO |
| GO:0043565 | sequence-specific DNA binding | IDA |
| GO:0044212 | transcription regulatory region DNA binding | ISO |
| GO:0044212 | transcription regulatory region DNA binding | IBA |
| GO:0047485 | protein N-terminus binding | ISO |
| GO:0070412 | R-SMAD binding | ISO |
| GO:0018024 | histone-lysine N-methyltransferase activity | ISO |
| GO:0018024 | histone-lysine N-methyltransferase activity | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISO |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA |
| GO:0000165 | MAPK cascade | ISO |
| GO:0001503 | ossification | IMP |
| GO:0001776 | leukocyte homeostasis | IMP |
| GO:0001933 | negative regulation of protein phosphorylation | ISO |
| GO:0002051 | osteoblast fate commitment | IGI |
| GO:0002076 | osteoblast development | ISO |
| GO:0002076 | osteoblast development | IGI |
| GO:0003309 | type B pancreatic cell differentiation | ISO |
| GO:0006338 | chromatin remodeling | IMP |
| GO:0006338 | chromatin remodeling | IGI |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA |
| GO:0006974 | cellular response to DNA damage stimulus | ISO |
| GO:0007050 | cell cycle arrest | IMP |
| GO:0008285 | negative regulation of cell population proliferation | ISO |
| GO:0008285 | negative regulation of cell population proliferation | IMP |
| GO:0008285 | negative regulation of cell population proliferation | IDA |
| GO:0008285 | negative regulation of cell population proliferation | IGI |
| GO:0008285 | negative regulation of cell population proliferation | IBA |
| GO:0009411 | response to UV | ISO |
| GO:0010332 | response to gamma radiation | ISO |
| GO:0010468 | regulation of gene expression | IDA |
| GO:0010628 | positive regulation of gene expression | IDA |
| GO:0010628 | positive regulation of gene expression | IMP |
| GO:0010812 | negative regulation of cell-substrate adhesion | ISO |
| GO:0016571 | histone methylation | IDA |
| GO:0016571 | histone methylation | IMP |
| GO:0030097 | hemopoiesis | IMP |
| GO:0030511 | positive regulation of transforming growth factor beta receptor signaling pathway | ISO |
| GO:0031062 | positive regulation of histone methylation | IMP |
| GO:0032092 | positive regulation of protein binding | ISO |
| GO:0032925 | regulation of activin receptor signaling pathway | ISO |
| GO:0034968 | histone lysine methylation | IEA |
| GO:0043065 | positive regulation of apoptotic process | IDA |
| GO:0043065 | positive regulation of apoptotic process | IGI |
| GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | IDA |
| GO:0043433 | negative regulation of DNA-binding transcription factor activity | ISO |
| GO:0045597 | positive regulation of cell differentiation | IMP |
| GO:0045668 | negative regulation of osteoblast differentiation | ISO |
| GO:0045668 | negative regulation of osteoblast differentiation | IDA |
| GO:0045668 | negative regulation of osteoblast differentiation | IGI |
| GO:0045669 | positive regulation of osteoblast differentiation | IGI |
| GO:0045736 | negative regulation of cyclin-dependent protein serine/threonine kinase activity | ISO |
| GO:0045786 | negative regulation of cell cycle | ISO |
| GO:0045786 | negative regulation of cell cycle | IBA |
| GO:0045892 | negative regulation of transcription, DNA-templated | ISO |
| GO:0045893 | positive regulation of transcription, DNA-templated | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IGI |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IMP |
| GO:0046329 | negative regulation of JNK cascade | ISO |
| GO:0046621 | negative regulation of organ growth | IDA |
| GO:0048704 | embryonic skeletal system morphogenesis | IMP |
| GO:0050680 | negative regulation of epithelial cell proliferation | ISO |
| GO:0051781 | positive regulation of cell division | IMP |
| GO:0051974 | negative regulation of telomerase activity | ISO |
| GO:0060021 | roof of mouth development | IMP |
| GO:0060135 | maternal process involved in female pregnancy | IDA |
| GO:0061469 | regulation of type B pancreatic cell proliferation | ISO |
| GO:0071559 | response to transforming growth factor beta | ISO |
| GO:1902807 | negative regulation of cell cycle G1/S phase transition | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000784 | nuclear chromosome, telomeric region | IDA |
| GO:0000785 | chromatin | ISO |
| GO:0000785 | chromatin | IBA |
| GO:0000790 | nuclear chromatin | ISO |
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005737 | cytoplasm | ISO |
| GO:0005737 | cytoplasm | IDA |
| GO:0005829 | cytosol | ISO |
| GO:0016363 | nuclear matrix | ISO |
| GO:0032154 | cleavage furrow | ISO |
| GO:0032991 | protein-containing complex | ISO |
| GO:0035097 | histone methyltransferase complex | ISO |
| GO:0035097 | histone methyltransferase complex | IBA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-170834 | Signaling by TGF-beta Receptor Complex | IEA |
| R-MMU-194315 | Signaling by Rho GTPases | IEA |
| R-MMU-195258 | RHO GTPase Effectors | IEA |
| R-MMU-195721 | Signaling by WNT | IEA |
| R-MMU-201681 | TCF dependent signaling in response to WNT | IEA |
| R-MMU-201722 | Formation of the beta-catenin:TCF transactivating complex | IEA |
| R-MMU-212436 | Generic Transcription Pathway | IEA |
| R-MMU-2173793 | Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer | IEA |
| R-MMU-2173796 | SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription | IEA |
| R-MMU-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) | IEA |
| R-MMU-392499 | Metabolism of proteins | IEA |
| R-MMU-5626467 | RHO GTPases activate IQGAPs | IEA |
| R-MMU-597592 | Post-translational protein modification | IEA |
| R-MMU-73857 | RNA Polymerase II Transcription | IEA |
| R-MMU-74160 | Gene expression (Transcription) | IEA |
| R-MMU-8957275 | Post-translational protein phosphorylation | IEA |
| R-MMU-9006936 | Signaling by TGF-beta family members | IEA |
| InterPro ID | InterPro Term |
|---|---|
| IPR007747 | Menin |
| Pfam ID | Pfam Term |
|---|---|
| PF05053 | Menin |