MEN1
entrez
4221
canonical
uniprot
O00255
canonical
ensembl
ENSG00000133895
resolver
ensp
ENSP00000308975
resolver
ensp
ENSP00000323747
resolver
ensp
ENSP00000366530
resolver
ensp
ENSP00000366533
resolver
ensp
ENSP00000366538
resolver
ensp
ENSP00000388016
resolver
ensp
ENSP00000394933
resolver
ensp
ENSP00000402752
resolver
ensp
ENSP00000411218
resolver
ensp
ENSP00000413944
resolver
ensp
ENSP00000500585
resolver
ensp
ENSP00000518530
resolver
ensp
ENSP00000534654
resolver
ensp
ENSP00000534655
resolver
ensp
ENSP00000534656
resolver
ensp
ENSP00000534657
resolver
ensp
ENSP00000534659
resolver
ensp
ENSP00000534660
resolver
ensp
ENSP00000587759
resolver
ensp
ENSP00000587760
resolver
ensp
ENSP00000587761
resolver
ensp
ENSP00000587763
resolver
ensp
ENSP00000587769
resolver
enst
ENST00000377316
resolver
enst
ENST00000377321
resolver
enst
ENST00000424912
resolver
enst
ENST00000429702
resolver
enst
ENST00000672304
resolver
enst
ENST00000864595
resolver
enst
ENST00000864596
resolver
enst
ENST00000864597
resolver
enst
ENST00000864598
resolver
enst
ENST00000917700
resolver
enst
ENST00000917702
resolver
genesymbol
MEN1
resolver
genesymbol_syn
SCG2
resolver
hgnc
HGNC:7010
resolver
uniprot
A0A5F9ZHS3
resolver
uniprot
A0AA75I0P0
resolver
uniprot
A5HBC6
resolver
uniprot
A5HBC7
resolver
uniprot
A5HBC8
resolver
uniprot
A5HBC9
resolver
uniprot
A5HBD0
resolver
uniprot
A5HBD1
resolver
uniprot
A5HBD2
resolver
uniprot
E7EN32
resolver
uniprot
F6SPA4
resolver
uniprot
O00632
resolver
uniprot
Q9BUF0
resolver
uniprot
Q9BUK2
resolver
uniprot
Q9GZQ5
resolver
uniprot_entry
A0A5F9ZHS3_HUMAN
resolver
uniprot_entry
A0AA75I0P0_HUMAN
resolver
uniprot_entry
E7EN32_HUMAN
resolver
uniprot_entry
F6SPA4_HUMAN
resolver
uniprot_entry
MEN1_HUMAN
resolver
uniprot_entry
Q9GZQ5_HUMAN
resolver
uniprot_sec
A5HBC6
resolver
uniprot_sec
A5HBC7
resolver
uniprot_sec
A5HBC8
resolver
uniprot_sec
A5HBC9
resolver
uniprot_sec
A5HBD0
resolver
uniprot_sec
A5HBD1
resolver
uniprot_sec
A5HBD2
resolver
uniprot_sec
O00632
resolver
uniprot_sec
Q9BUF0
resolver
uniprot_sec
Q9BUK2
resolver
amino_acid_sequence
MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPELTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKKVSDVIWNSLSRSYFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGRPDPLTLYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCREDEEIYKEFFEVANDVIPNLLKEAASLLEAGEERPGEQSQGTQSQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQVRQKVRIVSREAEAAEAEEPWGEEAREGRRRGPRRESKPEEPPPPKKPALDKGLGTGQGAVSGPPRKPPGTVAGTARGPEGGSTAQVPAPTASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTPSDYTLSFLKRQRKGL
uniprot
proteins
disease_involvement
DISEASE: Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]: Autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia. {ECO:0000269|PubMed:10090472, ECO:0000269|PubMed:10229909, ECO:0000269|PubMed:10534569, ECO:0000269|PubMed:10576763, ECO:0000269|PubMed:10617276, ECO:0000269|PubMed:10660339, ECO:0000269|PubMed:10664520, ECO:0000269|PubMed:10849016, ECO:0000269|PubMed:10993647, ECO:0000269|PubMed:11102994, ECO:0000269|PubMed:11134142, ECO:0000269|PubMed:11241849, ECO:0000269|PubMed:12050235, ECO:0000269|PubMed:12112656, ECO:0000269|PubMed:12417605, ECO:0000269|PubMed:12652570, ECO:0000269|PubMed:12699448, ECO:0000269|PubMed:12746426, ECO:0000269|PubMed:12791038, ECO:0000269|PubMed:14686752, ECO:0000269|PubMed:14992727, ECO:0000269|PubMed:15714081, ECO:0000269|PubMed:15730416, ECO:0000269|PubMed:17555499, ECO:0000269|PubMed:22327296, ECO:0000269|PubMed:9103196, ECO:0000269|PubMed:9215689, ECO:0000269|PubMed:9215690, ECO:0000269|PubMed:9463336, ECO:0000269|PubMed:9506756, ECO:0000269|PubMed:9671267, ECO:0000269|PubMed:9683585, ECO:0000269|PubMed:9709921, ECO:0000269|PubMed:9709976, ECO:0000269|PubMed:9709985, ECO:0000269|PubMed:9740255, ECO:0000269|PubMed:9747036, ECO:0000269|PubMed:9820618, ECO:0000269|PubMed:9832038, ECO:0000269|PubMed:9888389, ECO:0000269|PubMed:9989505}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=MEN1 inactivating mutations are responsible for hyperfunctioning of the parathyroid glands and subsequent primary hyperparathyroidism. Primary hyperparathyroidism can occur in isolation or in association with multiple endocrine neoplasia. {ECO:0000269|PubMed:10634381, ECO:0000269|PubMed:10664521, ECO:0000269|PubMed:12016470, ECO:0000269|PubMed:12699448, ECO:0000269|PubMed:9792884, ECO:0000269|PubMed:9843042, ECO:0000269|PubMed:9888389}.
uniprot
proteins
function
FUNCTION: 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. May be involved in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair. {ECO:0000250|UniProtKB:O88559, ECO:0000269|PubMed:11274402, ECO:0000269|PubMed:11526476, ECO:0000269|PubMed:12837246, ECO:0000269|PubMed:12874027, ECO:0000269|PubMed:14992727, ECO:0000269|PubMed:22327296}.
uniprot
proteins
mass_dalton
67497
uniprot
proteins
mutagenesis
MUTAGEN 182; /note="A->F: Reduced interaction with KMT2A."; /evidence="ECO:0000269|PubMed:22327296"; MUTAGEN 278; /note="M->W: Loss of interaction with KMT2A and JUND."; /evidence="ECO:0000269|PubMed:22327296"; MUTAGEN 285; /note="D->R: Reduced interaction with KMT2A; when associated with R-288 and R-290."; /evidence="ECO:0000269|PubMed:22327296"; MUTAGEN 288; /note="E->R: Reduced interaction with KMT2A; when associated with R-285 and R-290."; /evidence="ECO:0000269|PubMed:22327296"; MUTAGEN 290; /note="E->R: Reduced interaction with KMT2A; when associated with R-285 and R-288."; /evidence="ECO:0000269|PubMed:22327296"; MUTAGEN 319; /note="Y->A: Reduced interaction with KMT2A."; /evidence="ECO:0000269|PubMed:22327296"; MUTAGEN 323; /note="Y->A: Reduced interaction with KMT2A."; /evidence="ECO:0000269|PubMed:22327296"; MUTAGEN 366; /note="E->A: Reduced interaction with KMT2A; when associated with A-370."; /evidence="ECO:0000269|PubMed:22327296"; MUTAGEN 370; /note="D->A: Reduced interaction with KMT2A; when associated with A-366."; /evidence="ECO:0000269|PubMed:22327296
uniprot
proteins
pubmed
10090472
uniprot
proteins
pubmed
10229909
uniprot
proteins
pubmed
10534569
uniprot
proteins
pubmed
10576763
uniprot
proteins
pubmed
10617276
uniprot
proteins
pubmed
10634381
uniprot
proteins
pubmed
10647896
uniprot
proteins
pubmed
10660339
uniprot
proteins
pubmed
10664520
uniprot
proteins
pubmed
10664521
uniprot
proteins
pubmed
10849016
uniprot
proteins
pubmed
10993647
uniprot
proteins
pubmed
11034102
uniprot
proteins
pubmed
11102994
uniprot
proteins
pubmed
11134142
uniprot
proteins
pubmed
11241849
uniprot
proteins
pubmed
11274402
uniprot
proteins
pubmed
11526476
uniprot
proteins
pubmed
12016470
uniprot
proteins
pubmed
12050235
uniprot
proteins
pubmed
12112656
uniprot
proteins
pubmed
12417605
uniprot
proteins
pubmed
12652570
uniprot
proteins
pubmed
12699448
uniprot
proteins
pubmed
12746426
uniprot
proteins
pubmed
12791038
uniprot
proteins
pubmed
12837246
uniprot
proteins
pubmed
12874027
uniprot
proteins
pubmed
14686752
uniprot
proteins
pubmed
14992727
uniprot
proteins
pubmed
15199122
uniprot
proteins
pubmed
15205994
uniprot
proteins
pubmed
15374998
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15714081
uniprot
proteins
pubmed
15730416
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17500065
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17555499
uniprot
proteins
pubmed
17555500
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
22327296
uniprot
proteins
pubmed
22936661
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25305204
uniprot
proteins
pubmed
9103196
uniprot
proteins
pubmed
9215689
uniprot
proteins
pubmed
9215690
uniprot
proteins
pubmed
9241276
uniprot
proteins
pubmed
9463336
uniprot
proteins
pubmed
9506756
uniprot
proteins
pubmed
9671267
uniprot
proteins
pubmed
9683585
uniprot
proteins
pubmed
9709921
uniprot
proteins
pubmed
9709976
uniprot
proteins
pubmed
9709985
uniprot
proteins
pubmed
9740255
uniprot
proteins
pubmed
9747036
uniprot
proteins
pubmed
9792884
uniprot
proteins
pubmed
9820618
uniprot
proteins
pubmed
9832038
uniprot
proteins
pubmed
9843042
uniprot
proteins
pubmed
9888389
uniprot
proteins
pubmed
9989505
uniprot
proteins
sequence_length
610
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12874027}. Note=Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation.
uniprot
proteins