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menin (MEN1, SCG2)
Function:
- tumor suppressor ?
- may be involved in DNA repair
- phosphorylated upon DNA damage, probably by ATM or ATR
- interacts with FANCD2 & DBF4
- component of MLL-containing complexes (named MLL, ASCOM, MLL2/MLL3 or MLL3/MLL4 complex): at least composed ASH2L, RBBP5, DPY30, WDR5, one or several histone methyltransferases (MLL, MLL2, MLL3 &/or MLL4), & the facultative components MEN1, HCFC1, HCFC2, NCOA6, KDM6A, PAXIP1/PTIP & C16orf53/PA1
Compartment:
- nucleus
- concentrated in nuclear body-like structures
- relocates to the nuclear matrix upon gamma irradiation
Alternative splicing: named isoforms=3
Expression: ubiquitous
Pathology:
- mutations seen in:
a) familial multiple endocrine neoplasia type 1
b) familial isolated hyperparathyroidism
Pharmacology:
- revumenib, an menin inhibitor is a investigational agent for relapsed or refractory KMT2A-rearranged or NPM1-mutant acute leukemia
Related
hyperparathyroidism
MEN1 gene
multiple endocrine neoplasia type-1 (MEN-1); multiple endocrine adenomatosis; Wermer Syndrome
General
nuclear protein
phosphoprotein
Properties
SIZE: entity length = 615 aa
MW = 68 kD
COMPARTMENT: cell nucleus
MOTIF: FANCD2 interaction {219-395}
Ser phosphorylation site {S399}
Ser phosphorylation site {S548}
Thr phosphorylation site {T599}
Database Correlations
OMIM correlations
UniProt O00255
Pfam PF05053
Entrez Gene 4221
Kegg hsa:4221
References
- UniProt :accession O00255
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/MEN1ID148.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/MEN1
- Harrison's Online, Chapter 328, McGraw-Hill, 2002