MEN1
Menin
Also known as: MEN1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O00255
- Gene
- MEN1
- Ensembl
- ENSG00000133895
- Chromosome
- 11
- Canonical length
- 610 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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 pathways and processes by altering chromatin structure through the modification of histones. [provided by RefSeq, May 2019]
Canonical amino-acid sequenceUniProt
610 residues, UniProt reviewed canonical sequence.
>O00255|MEN1
1 MGLKAAQKTL FPLRSIDDVV RLFAAELGRE EPDLVLLSLV LGFVEHFLAV NRVIPTNVPE
61 LTFQPSPAPD PPGGLTYFPV ADLSIIAALY ARFTAQIRGA VDLSLYPREG GVSSRELVKK
121 VSDVIWNSLS RSYFKDRAHI QSLFSFITGT KLDSSGVAFA VVGACQALGL RDVHLALSED
181 HAWVVFGPNG EQTAEVTWHG KGNEDRRGQT VNAGVAERSW LYLKGSYMRC DRKMEVAFMV
241 CAINPSIDLH TDSLELLQLQ QKLLWLLYDL GHLERYPMAL GNLADLEELE PTPGRPDPLT
301 LYHKGIASAK TYYRDEHIYP YMYLAGYHCR NRNVREALQA WADTATVIQD YNYCREDEEI
361 YKEFFEVAND VIPNLLKEAA SLLEAGEERP GEQSQGTQSQ GSALQDPECF AHLLRFYDGI
421 CKWEEGSPTP VLHVGWATFL VQSLGRFEGQ VRQKVRIVSR EAEAAEAEEP WGEEAREGRR
481 RGPRRESKPE EPPPPKKPAL DKGLGTGQGA VSGPPRKPPG TVAGTARGPE GGSTAQVPAP
541 TASPPPEGPV LTFQSEKMKG MKELLVATKI NSSAIKLQLT AQSQVQMKKQ KVSTPSDYTL
601 SFLKRQRKGLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MEN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 22 nTPM
Expression across tissuesHPA
Tissue
- liver: 22 nTPM
- adrenal gland: 18 nTPM
- cerebral cortex: 18 nTPM
- pancreas: 18 nTPM
- thymus: 17 nTPM
- choroid plexus: 17 nTPM
Single-cell type
- megakaryocytes: 37 nCPM
- extravillous trophoblasts: 26 nCPM
- cytotrophoblasts: 23 nCPM
- tuft cells: 23 nCPM
- migrating cytotrophoblasts: 22 nCPM
- differentiating spermatogonia: 19 nCPM
Immune cell
- memory B-cell: 2.2 nTPM
- MAIT T-cell: 2.1 nTPM
- memory CD8 T-cell: 2.1 nTPM
- naive CD4 T-cell: 2.1 nTPM
- naive B-cell: 1.9 nTPM
- gdT-cell: 1.7 nTPM
Brain region
- cerebral cortex: 22 nTPM
- basal ganglia: 20 nTPM
- thalamus: 19 nTPM
- hippocampal formation: 18 nTPM
- amygdala: 18 nTPM
- choroid plexus: 18 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MEN1.
Disease | AllUniProt
Conditions MEN1 is implicated in, by any mechanism.
- Familial multiple endocrine neoplasia type I (MEN1) MIM:131100
Disease | GeneticClinVar
678 pathogenic / likely-pathogenic of 3,115 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Multiple endocrine neoplasia, type 1
- Hereditary cancer-predisposing syndrome
- Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
- Neuroendocrine tumor of pancreas
- MEN1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.17
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.25
- DepMap mean gene effect
- -0.27
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA damage response
- DNA repair
- MAPK cascade
- negative regulation of cell cycle
- negative regulation of cell population proliferation
- negative regulation of cyclin-dependent protein serine/threonine kinase activity
- negative regulation of DNA-binding transcription factor activity
- negative regulation of DNA-templated transcription
- negative regulation of JNK cascade
- negative regulation of osteoblast differentiation
- negative regulation of protein phosphorylation
- negative regulation of transcription by RNA polymerase II
- osteoblast development
- positive regulation of transcription by RNA polymerase II
- positive regulation of transforming growth factor beta receptor signaling pathway
- regulation of transcription by RNA polymerase II
- response to gamma radiation
- response to UV
- T-helper 2 cell differentiation
- transcription initiation-coupled chromatin remodeling
Molecular functions
- chromatin binding
- double-stranded DNA binding
- four-way junction DNA binding
- phosphoprotein binding
- protein-macromolecule adaptor activity
- R-SMAD binding
- transcription cis-regulatory region binding
- Y-form DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Menin
- Menin
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MEN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MEN1 as an antibody target. Whether an autoantibody or antibody against MEN1 could matter depends on whether native MEN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MEN1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MEN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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