• Gene id: 4221

Gene Summary

• Gene Symbol: MEN1   Gene   UCSC   Ensembl
• Aliases: MEAI, SCG2
• Gene name: menin 1
• Alternate names: menin,
• Gene location: 11q13.1 (64811293: 64803513)     Exons: 1     NC_000011.10
• Gene summary(Entrez): This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathw
• OMIM: 613733

Protein Summary

• Protein general information: O00255  
  • Name: Menin
  • Length: 615  
  • Mass: 68023
  • Tissue specificity: Ubiquitous.
• Sequence:

  MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQPSPAPDPPGGL
  TYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKKVSDVIWNSLSRSYFKDRAHIQSLFSFITGW
  SPVGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSW
  LYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGR
  PDPLTLYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCREDEEIYKEFFEVAND
  VIPNLLKEAASLLEAGEERPGEQSQGTQSQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWATFLVQSLG
  RFEGQVRQKVRIVSREAEAAEAEEPWGEEAREGRRRGPRRESKPEEPPPPKKPALDKGLGTGQGAVSGPPRKPPG
  TVAGTARGPEGGSTAQVPAPTASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTP
  SDYTLSFLKRQRKGL

• Structural information:
  • Interpro: IPR007747  
  • CDD: cd14456
  • PDB: 3U84 3U85 3U86 3U88 4GPQ 4GQ3 4GQ4 4GQ6 4I80 4OG3 4OG4 4OG5 4OG6 4OG7 4OG8 4X5Y 4X5Z 5DB0 5DB1 5DB2 5DB3 5DD9 5DDA 5DDB 5DDC 5DDD 5DDE 5DDF 6B41 6BXH 6BXY 6BY8 6E1A 6O5I 6PKC
  • PDBsum: 3U84 3U85 3U86 3U88 4GPQ 4GQ3 4GQ4 4GQ6 4I80 4OG3 4OG4 4OG5 4OG6 4OG7 4OG8 4X5Y 4X5Z 5DB0 5DB1 5DB2 5DB3 5DD9 5DDA 5DDB 5DDC 5DDD 5DDE 5DDF 6B41 6BXH 6BXY 6BY8 6E1A 6O5I 6PKC
  • DIP: 24236
  • STRING: ENSP00000337088
• Other Databases: GeneCards:  MEN1  Malacards:  MEN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0003690	double-stranded DNA binding	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0008285	negative regulation of cell population proliferation	IBA	biological process
GO:0018024	histone-lysine N-methyltransferase activity	IBA	contributes to
GO:0035097	histone methyltransferase complex	IBA	cellular component
GO:0000403	Y-form DNA binding	IBA	molecular function
GO:0000785	chromatin	IBA	cellular component
GO:0045786	negative regulation of cell cycle	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0035097	histone methyltransferase complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0035097	histone methyltransferase complex	IPI	cellular component
GO:0035097	histone methyltransferase complex	IPI	cellular component
GO:0035097	histone methyltransferase complex	IPI	cellular component
GO:0045668	negative regulation of osteoblast differentiation	IGI	biological process
GO:0002076	osteoblast development	IGI	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:1904837	beta-catenin-TCF complex assembly	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:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	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:1902807	negative regulation of cell cycle G1/S phase transition	IEA	biological process
GO:0071559	response to transforming growth factor beta	IEA	biological process
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0061469	regulation of type B pancreatic cell proliferation	IEA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0032925	regulation of activin receptor signaling pathway	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0003309	type B pancreatic cell differentiation	IEA	biological process
GO:0000278	mitotic cell cycle	IEA	biological process
GO:0071375	cellular response to peptide hormone stimulus	IEA	biological process
GO:0046697	decidualization	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0010812	negative regulation of cell-substrate adhesion	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000784	nuclear chromosome, telomeric region	ISS	cellular component
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0034968	histone lysine methylation	IEA	biological process
GO:0034968	histone lysine methylation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0043433	negative regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0046329	negative regulation of JNK cascade	IDA	biological process
GO:0045786	negative regulation of cell cycle	IDA	biological process
GO:0032154	cleavage furrow	IDA	cellular component
GO:0009411	response to UV	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000165	MAPK cascade	IDA	biological process
GO:0043433	negative regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0018024	histone-lysine N-methyltransferase activity	IDA	contributes to
GO:0030674	protein-macromolecule adaptor activity	IDA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000785	chromatin	IDA	cellular component
GO:0000403	Y-form DNA binding	IDA	molecular function
GO:0000400	four-way junction DNA binding	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0016363	nuclear matrix	IDA	cellular component
GO:0010332	response to gamma radiation	IDA	biological process
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0001933	negative regulation of protein phosphorylation	IDA	biological process
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IMP	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:0006281	DNA repair	NAS	biological process
GO:0051974	negative regulation of telomerase activity	IMP	biological process
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0047485	protein N-terminus 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:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer
hsa04934	Cushing syndrome
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Cushing syndrome	KEGG:H01431
Medulloblastoma	KEGG:H01667
Bilateral macronodular adrenal hyperplasia	KEGG:H02049
Adrenal carcinoma	KEGG:H00033
Pituitary adenomas	KEGG:H01102
Primary hyperparathyroidism	KEGG:H00246
Multiple endocrine neoplasia syndrome	KEGG:H00247
Pancreatic neuroendocrine tumor	KEGG:H00045
Carcinoid	KEGG:H00034
Zollinger-Ellison syndrome	KEGG:H01522
Cushing syndrome	KEGG:H01431
Medulloblastoma	KEGG:H01667
Bilateral macronodular adrenal hyperplasia	KEGG:H02049
Adrenal carcinoma	KEGG:H00033
Pituitary adenomas	KEGG:H01102
Primary hyperparathyroidism	KEGG:H00246
Multiple endocrine neoplasia syndrome	KEGG:H00247
Pancreatic neuroendocrine tumor	KEGG:H00045
Carcinoid	KEGG:H00034
Zollinger-Ellison syndrome	KEGG:H01522
Multiple endocrine neoplasia	PMID:18045958
Hyperparathyroidism	PMID:16563611
pancreatic cancer	PMID:17278096
pancreatic ductal carcinoma	PMID:19170121
pancreatic ductal carcinoma	PMID:19170121
Gastrinoma	PMID:15944766
duodenal gastrinoma	PMID:17135306
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
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