KEGG   Homo sapiens (human): 4221
Entry
4221              CDS       T01001                                 
Symbol
MEN1, MEAI, SCG2
Name
(RefSeq) menin isoform 2
  KO
K14970  menin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04934  Cushing syndrome
hsa05202  Transcriptional misregulation in cancer
Network
nt06360  Cushing syndrome
  Element
N00290  Mutation-inactivated MEN1 to transcription
Disease
H00033  Adrenal carcinoma
H00034  Carcinoid
H00045  Pancreatic neuroendocrine tumor
H00246  Primary hyperparathyroidism
H00247  Multiple endocrine neoplasia syndrome
H01102  Pituitary adenomas
H01431  Cushing syndrome
H01522  Zollinger-Ellison syndrome
H01667  Medulloblastoma
H02049  Bilateral macronodular adrenal hyperplasia
Drug target
Enzomenib (DG03370): D13193 D13194
Icovamenib: D12727
Revumenib (DG03279): D12728 D12729<US>
Ziftomenib: D12419<US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    4221 (MEN1)
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    4221 (MEN1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    4221 (MEN1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HMT complexes
    MLL-HCF complex
     4221 (MEN1)
SSDB
Motif
Pfam: Menin
Other DBs
NCBI-GeneID: 4221
NCBI-ProteinID: NP_001357188
OMIM: 613733
HGNC: 7010
Ensembl: ENSP00000394933.3
UniProt: O00255
Structure
Position
11:complement(64803516..64811294)
AA seq 610 aa
MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPE
LTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKK
VSDVIWNSLSRSYFKDRAHIQSLFSFITGTKLDSSGVAFAVVGACQALGLRDVHLALSED
HAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKMEVAFMV
CAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGRPDPLT
LYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCREDEEI
YKEFFEVANDVIPNLLKEAASLLEAGEERPGEQSQGTQSQGSALQDPECFAHLLRFYDGI
CKWEEGSPTPVLHVGWATFLVQSLGRFEGQVRQKVRIVSREAEAAEAEEPWGEEAREGRR
RGPRRESKPEEPPPPKKPALDKGLGTGQGAVSGPPRKPPGTVAGTARGPEGGSTAQVPAP
TASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTPSDYTL
SFLKRQRKGL
NT seq 1833 nt   +upstreamnt  +downstreamnt
atggggctgaaggccgcccagaagacgctgttcccgctgcgctccatcgacgacgtggtg
cgcctgtttgctgccgagctgggccgagaggagccggacctggtgctcctttccttggtg
ctgggcttcgtggagcattttctggctgtcaaccgcgtcatccctaccaacgttcccgag
ctcaccttccagcccagccccgcccccgacccgcctggcggcctcacctactttcccgtg
gccgacctgtctatcatcgccgccctctatgcccgcttcaccgcccagatccgaggcgcc
gtcgacctgtccctctatcctcgagaagggggtgtctccagccgtgagctggtgaagaag
gtctccgatgtcatatggaacagcctcagccgctcctacttcaaggatcgggcccacatc
cagtccctcttcagcttcatcacaggcaccaaattggacagctccggtgtggcctttgct
gtggttggggcctgccaggccctgggtctccgggatgtccacctcgccctgtctgaggat
catgcctgggtagtgtttgggcccaatggggagcagacagctgaggtcacctggcacggc
aagggcaacgaggaccgcaggggccagacagtcaatgccggtgtggctgagcggagctgg
ctgtacctgaaaggatcatacatgcgctgtgaccgcaagatggaggtggcgttcatggtg
tgtgccatcaacccttccattgacctgcacaccgactcgctggagcttctgcagctgcag
cagaagctgctctggctgctctatgacctgggacatctggaaaggtaccccatggcctta
gggaacctggcagatctagaggagctggagcccacccctggccggccagacccactcacc
ctctaccacaagggcattgcctcagccaagacctactatcgggatgaacacatctacccc
tacatgtacctggctggctaccactgtcgcaaccgcaatgtgcgggaagccctgcaggcc
tgggcggacacggccactgtcatccaggactacaactactgccgggaagacgaggagatc
tacaaggagttctttgaagtagccaatgatgtcatccccaacctgctgaaggaggcagcc
agcttgctggaggcgggcgaggagcggccgggggagcaaagccagggcacccagagccaa
ggttccgccctccaggaccctgagtgcttcgcccacctgctgcgattctacgacggcatc
tgcaaatgggaggagggcagtcccacgcctgtgctgcatgtgggctgggccacctttctt
gtgcagtccctaggccgttttgagggacaggtgcggcagaaggtgcgcatagtgagccga
gaggccgaggcggccgaggccgaggagccgtggggcgaggaagcccgggaaggccggcgg
cggggcccacggcgggagtccaagccagaggagcccccgccgcccaagaagccagcactg
gacaagggcctgggcaccggccagggtgcagtgtcaggacccccccggaagcctcctggg
actgtcgctggcacagcccgaggccctgaaggtggcagcacggctcaggtgccagcaccc
acagcatcaccaccgccggagggtccagtgctcactttccagagtgagaagatgaagggc
atgaaggagctgctggtggccaccaagatcaactcgagcgccatcaagctgcaactcacg
gcacagtcgcaagtgcagatgaagaagcagaaagtgtccacccctagtgactacactctg
tctttcctcaagcggcagcgcaaaggcctctga

  All links  
Disease (3)   
   OMIM (3)   
Gene (15)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (31)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (29)   
DNA sequence (55)   
   RefSeq(nuc) (33)   
   GenBank (11)   
   EMBL (11)   
3D Structure (60)   
   PDB (60)   
Protein domain (1)   
   Pfam (1)   
All databases (165)   

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