KEGG   Homo sapiens (human): 4221Help
Entry
4221              CDS       T01001                                 

Gene name
MEN1, MEAI, SCG2
Definition
(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
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Menin
Motif
Other DBs
NCBI-GeneID: 4221
NCBI-ProteinID: NP_000235
OMIM: 613733
HGNC: 7010
Ensembl: ENSG00000133895
Vega: OTTHUMG00000045366
Pharos: O00255(Tchem)
UniProt: O00255 A0A024R5D2
Structure
PDB: 

Position
11q13.1
AA seq 615 aa AA seqDB search
MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEHFLAVNRVIPTNVPE
LTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVDLSLYPREGGVSSRELVKK
VSDVIWNSLSRSYFKDRAHIQSLFSFITGWSPVGTKLDSSGVAFAVVGACQALGLRDVHL
ALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAERSWLYLKGSYMRCDRKME
VAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERYPMALGNLADLEELEPTPGR
PDPLTLYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNVREALQAWADTATVIQDYNYCR
EDEEIYKEFFEVANDVIPNLLKEAASLLEAGEERPGEQSQGTQSQGSALQDPECFAHLLR
FYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQVRQKVRIVSREAEAAEAEEPWGEEA
REGRRRGPRRESKPEEPPPPKKPALDKGLGTGQGAVSGPPRKPPGTVAGTARGPEGGSTA
QVPAPAASPPPEGPVLTFQSEKMKGMKELLVATKINSSAIKLQLTAQSQVQMKKQKVSTP
SDYTLSFLKRQRKGL
NT seq 1848 nt NT seq  +upstreamnt  +downstreamnt
atggggctgaaggccgcccagaagacgctgttcccgctgcgctccatcgacgacgtggtg
cgcctgtttgctgccgagctgggccgagaggagccggacctggtgctcctttccttggtg
ctgggcttcgtggagcattttctggctgtcaaccgcgtcatccctaccaacgttcccgag
ctcaccttccagcccagccccgcccccgacccgcctggcggcctcacctactttcccgtg
gccgacctgtctatcatcgccgccctctatgcccgcttcaccgcccagatccgaggcgcc
gtcgacctgtccctctatcctcgagaagggggtgtctccagccgtgagctggtgaagaag
gtctccgatgtcatatggaacagcctcagccgctcctacttcaaggatcgggcccacatc
cagtccctcttcagcttcatcacaggttggagcccagtaggcaccaaattggacagctcc
ggtgtggcctttgctgtggttggggcctgccaggccctgggtctccgggatgtccacctc
gccctgtctgaggatcatgcctgggtagtgtttgggcccaatggggagcagacagctgag
gtcacctggcacggcaagggcaacgaggaccgcaggggccagacagtcaatgccggtgtg
gctgagcggagctggctgtacctgaaaggatcatacatgcgctgtgaccgcaagatggag
gtggcgttcatggtgtgtgccatcaacccttccattgacctgcacaccgactcgctggag
cttctgcagctgcagcagaagctgctctggctgctctatgacctgggacatctggaaagg
taccccatggccttagggaacctggcagatctagaggagctggagcccacccctggccgg
ccagacccactcaccctctaccacaagggcattgcctcagccaagacctactatcgggat
gaacacatctacccctacatgtacctggctggctaccactgtcgcaaccgcaatgtgcgg
gaagccctgcaggcctgggcggacacggccactgtcatccaggactacaactactgccgg
gaagacgaggagatctacaaggagttctttgaagtagccaatgatgtcatccccaacctg
ctgaaggaggcagccagcttgctggaggcgggcgaggagcggccgggggagcaaagccag
ggcacccagagccaaggttccgccctccaggaccctgagtgcttcgcccacctgctgcga
ttctacgacggcatctgcaaatgggaggagggcagtcccacgcctgtgctgcacgtgggc
tgggccacctttcttgtgcagtccctaggccgttttgagggacaggtgcggcagaaggtg
cgcatagtgagccgagaggccgaggcggccgaggccgaggagccgtggggcgaggaagcc
cgggaaggccggcggcggggcccacggcgggagtccaagccagaggagcccccgccgccc
aagaagccagcactggacaagggcctgggcaccggccagggtgcagtgtcaggacccccc
cggaagcctcctgggactgtcgctggcacagcccgaggccctgaaggtggcagcacggct
caggtgccagcacccgcagcatcaccaccgccggagggtccagtgctcactttccagagt
gagaagatgaagggcatgaaggagctgctggtggccaccaagatcaactcgagcgccatc
aagctgcaactcacggcacagtcgcaagtgcagatgaagaagcagaaagtgtccacccct
agtgactacactctgtctttcctcaagcggcagcgcaaaggcctctga

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