KEGG   Homo sapiens (human): 4221
Entry
4221              CDS       T01001                                 
Symbol
MEN1, MEAI, SCG2
Name
(RefSeq) menin 1
  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
Ziftomenib: D12419
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_000235
OMIM: 613733
HGNC: 7010
Ensembl: ENSG00000133895
Position
11:complement(64803516..64811294)
AA seq 615 aa
MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPE
LTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKK
VSDVIWNSLSRSYFKDRAHIQSLFSFITGWSPVGTKLDSSGVAFAVVGACQALGLRDVHL
ALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKME
VAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGR
PDPLTLYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCR
EDEEIYKEFFEVANDVIPNLLKEAASLLEAGEERPGEQSQGTQSQGSALQDPECFAHLLR
FYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQVRQKVRIVSREAEAAEAEEPWGEEA
REGRRRGPRRESKPEEPPPPKKPALDKGLGTGQGAVSGPPRKPPGTVAGTARGPEGGSTA
QVPAPTASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTP
SDYTLSFLKRQRKGL
NT seq 1848 nt   +upstreamnt  +downstreamnt
atggggctgaaggccgcccagaagacgctgttcccgctgcgctccatcgacgacgtggtg
cgcctgtttgctgccgagctgggccgagaggagccggacctggtgctcctttccttggtg
ctgggcttcgtggagcattttctggctgtcaaccgcgtcatccctaccaacgttcccgag
ctcaccttccagcccagccccgcccccgacccgcctggcggcctcacctactttcccgtg
gccgacctgtctatcatcgccgccctctatgcccgcttcaccgcccagatccgaggcgcc
gtcgacctgtccctctatcctcgagaagggggtgtctccagccgtgagctggtgaagaag
gtctccgatgtcatatggaacagcctcagccgctcctacttcaaggatcgggcccacatc
cagtccctcttcagcttcatcacaggttggagcccagtaggcaccaaattggacagctcc
ggtgtggcctttgctgtggttggggcctgccaggccctgggtctccgggatgtccacctc
gccctgtctgaggatcatgcctgggtagtgtttgggcccaatggggagcagacagctgag
gtcacctggcacggcaagggcaacgaggaccgcaggggccagacagtcaatgccggtgtg
gctgagcggagctggctgtacctgaaaggatcatacatgcgctgtgaccgcaagatggag
gtggcgttcatggtgtgtgccatcaacccttccattgacctgcacaccgactcgctggag
cttctgcagctgcagcagaagctgctctggctgctctatgacctgggacatctggaaagg
taccccatggccttagggaacctggcagatctagaggagctggagcccacccctggccgg
ccagacccactcaccctctaccacaagggcattgcctcagccaagacctactatcgggat
gaacacatctacccctacatgtacctggctggctaccactgtcgcaaccgcaatgtgcgg
gaagccctgcaggcctgggcggacacggccactgtcatccaggactacaactactgccgg
gaagacgaggagatctacaaggagttctttgaagtagccaatgatgtcatccccaacctg
ctgaaggaggcagccagcttgctggaggcgggcgaggagcggccgggggagcaaagccag
ggcacccagagccaaggttccgccctccaggaccctgagtgcttcgcccacctgctgcga
ttctacgacggcatctgcaaatgggaggagggcagtcccacgcctgtgctgcatgtgggc
tgggccacctttcttgtgcagtccctaggccgttttgagggacaggtgcggcagaaggtg
cgcatagtgagccgagaggccgaggcggccgaggccgaggagccgtggggcgaggaagcc
cgggaaggccggcggcggggcccacggcgggagtccaagccagaggagcccccgccgccc
aagaagccagcactggacaagggcctgggcaccggccagggtgcagtgtcaggacccccc
cggaagcctcctgggactgtcgctggcacagcccgaggccctgaaggtggcagcacggct
caggtgccagcacccacagcatcaccaccgccggagggtccagtgctcactttccagagt
gagaagatgaagggcatgaaggagctgctggtggccaccaagatcaactcgagcgccatc
aagctgcaactcacggcacagtcgcaagtgcagatgaagaagcagaaagtgtccacccct
agtgactacactctgtctttcctcaagcggcagcgcaaaggcctctga

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Network (1)   
   KEGG NETWORK (1)   
Disease (12)   
   KEGG DISEASE (10)   
   OMIM (2)   
Drug (1)   
   KEGG DRUG (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (32)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (29)   
DNA sequence (55)   
   RefSeq(nuc) (33)   
   GenBank (11)   
   EMBL (11)   
Protein domain (1)   
   Pfam (1)   
All databases (123)   

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