MEN1

MEN1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMEN1, MEAI, SCG2, menin 1
External IDsOMIM: 613733; MGI: 1316736; HomoloGene: 7418; GeneCards: MEN1; OMA:MEN1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

4221

17283

Ensembl

ENSG00000133895

ENSMUSG00000024947

UniProt

O00255

O88559

RefSeq (mRNA)

NM_001168488
NM_001168489
NM_001168490
NM_008583

RefSeq (protein)

NP_001161960
NP_001161961
NP_001161962
NP_032609

Location (UCSC)Chr 11: 64.8 – 64.81 MbChr 19: 6.39 – 6.39 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Menin is a protein that in humans is encoded by the MEN1 gene. Menin is a putative tumor suppressor associated with multiple endocrine neoplasia type 1 (MEN-1 syndrome) and has autosomal dominant inheritance. Variations in the MEN1 gene can cause pituitary adenomas, hyperparathyroidism, pancreatic neuroendocrine tumors, gastrinoma, and adrenocortical cancers.

In vitro studies have shown that menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD. However, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Two variants of the shorter transcript have been identified where alternative splicing affects the coding sequence. Five variants where alternative splicing takes place in the 5' UTR have also been identified.