KEGG   Homo sapiens (human): 79813
Entry
79813             CDS       T01001                                 
Symbol
EHMT1, EHMT1-IT1, EUHMTASE1, Eu-HMTase1, FP13812, GLP, GLP1, KLEFS1, KMT1D
Name
(RefSeq) euchromatic histone lysine methyltransferase 1
  KO
K11420  [histone H3]-lysine9 N-trimethyltransferase EHMT [EC:2.1.1.355]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00310  Lysine degradation
hsa01100  Metabolic pathways
hsa04211  Longevity regulating pathway
Network
nt06523  Epigenetic regulation by Polycomb complexes
  Element
N01614  Activation of PRC2.2 by ubiquitination of H2AK119 in germline genes
Disease
H00907  Kleefstra syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00310 Lysine degradation
    79813 (EHMT1)
 09150 Organismal Systems
  09149 Aging
   04211 Longevity regulating pathway
    79813 (EHMT1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    79813 (EHMT1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.355  [histone H3]-lysine9 N-trimethyltransferase
     79813 (EHMT1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HDAC complexes
    REST complex
     79813 (EHMT1)
   HMTs (histone methyltransferases)
    HKMTs (histone lysine methyltransferases)
     79813 (EHMT1)
SSDB
Motif
Pfam: Ank_2 Ank Ank_4 EHMT1-2_CRR Ank_3 Ank_5 SET Pre-SET Ank_KRIT1 ANK_LRRK2
Other DBs
NCBI-GeneID: 79813
NCBI-ProteinID: NP_079033
OMIM: 607001
HGNC: 24650
Ensembl: ENSG00000181090
UniProt: Q9H9B1
Structure
Position
9:137619005..137836127
AA seq 1298 aa
MAAADAEAVPARGEPQQDCCVKTELLGEETPMAADEGSAEKQAGEAHMAADGETNGSCEN
SDASSHANAAKHTQDSARVNPQDGTNTLTRIAENGVSERDSEAAKQNHVTADDFVQTSVI
GSNGYILNKPALQAQPLRTTSTLASSLPGHAAKTLPGGAGKGRTPSAFPQTPAAPPATLG
EGSADTEDRKLPAPGADVKVHRARKTMPKSVVGLHAASKDPREVREARDHKEPKEEINKN
ISDFGRQQLLPPFPSLHQSLPQNQCYMATTKSQTACLPFVLAAAVSRKKKRRMGTYSLVP
KKKTKVLKQRTVIEMFKSITHSTVGSKGEKDLGASSLHVNGESLEMDSDEDDSEELEEDD
GHGAEQAAAFPTEDSRTSKESMSEADRAQKMDGESEEEQESVDTGEEEEGGDESDLSSES
SIKKKFLKRKGKTDSPWIKPARKRRRRSRKKPSGALGSESYKSSAGSAEQTAPGDSTGYM
EVSLDSLDLRVKGILSSQAEGLANGPDVLETDGLQEVPLCSCRMETPKSREITTLANNQC
MATESVDHELGRCTNSVVKYELMRPSNKAPLLVLCEDHRGRMVKHQCCPGCGYFCTAGNF
MECQPESSISHRFHKDCASRVNNASYCPHCGEESSKAKEVTIAKADTTSTVTPVPGQEKG
SALEGRADTTTGSAAGPPLSEDDKLQGAASHVPEGFDPTGPAGLGRPTPGLSQGPGKETL
ESALIALDSEKPKKLRFHPKQLYFSARQGELQKVLLMLVDGIDPNFKMEHQNKRSPLHAA
AEAGHVDICHMLVQAGANIDTCSEDQRTPLMEAAENNHLEAVKYLIKAGALVDPKDAEGS
TCLHLAAKKGHYEVVQYLLSNGQMDVNCQDDGGWTPMIWATEYKHVDLVKLLLSKGSDIN
IRDNEENICLHWAAFSGCVDIAEILLAAKCDLHAVNIHGDSPLHIAARENRYDCVVLFLS
RDSDVTLKNKEGETPLQCASLNSQVWSALQMSKALQDSAPDRPSPVERIVSRDIARGYER
IPIPCVNAVDSEPCPSNYKYVSQNCVTSPMNIDRNITHLQYCVCIDDCSSSNCMCGQLSM
RCWYDKDGRLLPEFNMAEPPLIFECNHACSCWRNCRNRVVQNGLRARLQLYRTRDMGWGV
RSLQDIPPGTFVCEYVGELISDSEADVREEDSYLFDLDNKDGEVYCIDARFYGNVSRFIN
HHCEPNLVPVRVFMAHQDLRFPRIAFFSTRLIEAGEQLGFDYGERFWDIKGKLFSCRCGS
PKCRHSSAALAQRQASAAQEAQEDGLPDTSSAAAADPL
NT seq 3897 nt   +upstreamnt  +downstreamnt
atggccgccgccgatgccgaggcagttccggcgaggggggagcctcagcaggattgctgt
gtgaaaaccgagctgctgggagaagagacacctatggctgccgatgaaggctcagcagag
aaacaggcaggagaggcccacatggctgcggacggtgagaccaatgggtcttgtgaaaac
agcgatgccagcagtcatgcaaatgctgcaaagcacactcaggacagcgcaagggtcaac
ccccaggatggcaccaacacactaactcggatagcggaaaatggggtttcagaaagagac
tcagaagcggcgaagcaaaaccacgtcactgccgacgactttgtgcagacttctgtcatc
ggcagcaacggatacatcttaaataagccggccctacaggcacagcccttgaggactacc
agcactctggcctcttcgctgcctggccatgctgcaaaaacccttcctggaggggctggc
aaaggcaggactccaagcgcttttccccagacgccagccgccccaccagccacccttggg
gaggggagtgctgacacagaggacaggaagctcccggcccctggcgccgacgtcaaggtc
cacagggcacgcaagaccatgccgaagtccgtcgtgggcctgcatgcagccagtaaagat
cccagagaagttcgagaagctagagatcataaggaaccaaaagaggagatcaacaaaaac
atttctgactttggacgacagcagcttttaccccccttcccatcccttcatcagtcgcta
cctcagaaccagtgctacatggccaccacaaaatcacagacagcttgcttgccttttgtt
ttagcagctgcagtatctcggaagaaaaaacgaagaatgggaacctatagcctggttcct
aagaaaaagaccaaagtattaaaacagaggacggtgattgagatgtttaagagcataact
cattccactgtgggttccaagggggagaaggacctgggcgccagcagcctgcacgtgaat
ggggagagcctggagatggactcggatgaggacgactcagaggagctcgaggaggacgac
ggccatggtgcagagcaggcggccgcgttccccacagaggacagcaggacttccaaggag
agcatgtcggaggctgatcgcgcccagaagatggacggggagtccgaggaggagcaggag
tccgtggacaccggggaggaggaggaaggcggtgacgagtctgacctgagttcggaatcc
agcattaagaagaaatttctcaagaggaaaggaaagaccgacagtccctggatcaagcca
gccaggaaaaggaggcggagaagtagaaagaagcccagcggtgccctcggttctgagtcg
tataagtcatctgcaggaagcgctgagcagacggcaccaggagacagcacagggtacatg
gaagtttctctggactccctggatctccgagtcaaaggaattctgtcttcacaagcagaa
gggttggccaacggtccagatgtgctggagacagacggcctccaggaagtgcctctctgc
agctgccggatggaaacaccgaagagtcgagagatcaccacactggccaacaaccagtgc
atggctacagagagcgtggaccatgaattgggccggtgcacaaacagcgtggtcaagtat
gagctgatgcgcccctccaacaaggccccgctcctcgtgctgtgtgaagaccaccggggc
cgcatggtgaagcaccagtgctgtcctggctgtggctacttctgcacagcgggtaatttt
atggagtgtcagcccgagagcagcatctctcaccgtttccacaaagactgtgcctctcga
gtcaataacgccagctattgtccccactgtggggaggagagctccaaggccaaagaggtg
acgatagctaaagcagacaccacctcgaccgtgacaccagtccccgggcaggagaagggc
tcggccctggagggcagggccgacaccacaacgggcagtgctgccgggccaccactctcg
gaggacgacaagctgcagggtgcagcctcccacgtgcccgagggctttgatccaacggga
cctgctgggcttgggaggccaactcccggcctttcccagggaccagggaaggaaaccttg
gagagcgctctcatcgccctcgactcggaaaaacccaagaagcttcgcttccacccaaag
cagctgtacttctccgccaggcaaggggagcttcagaaggtgctcctcatgctggtggac
ggaattgaccccaacttcaaaatggagcaccagaataagcgctctccactgcacgccgcg
gcagaggctggacacgtggacatctgccacatgctggttcaggcgggcgctaatattgac
acctgctcagaagaccagaggaccccgttgatggaagcagccgaaaacaaccatctggaa
gcagtgaagtacctcatcaaggctggggccctggtggatcccaaggacgcagagggctct
acgtgtttgcacctggctgccaagaaaggccactacgaagtggtccagtacctgctttca
aatggacagatggacgtcaactgtcaggatgacggaggctggacacccatgatctgggcc
acagagtacaagcacgtggacctcgtgaagctgctgctgtccaagggctctgacatcaac
atccgagacaacgaggagaacatttgcctgcactgggcggcgttctccggctgcgtggac
atagccgagatcctgctggctgccaagtgcgacctccacgccgtgaacatccacggagac
tcgccactgcacattgccgcccgggagaaccgctacgactgtgtcgtcctctttctttct
cgggattcagatgtcaccttaaagaacaaggaaggagagacgcccctgcagtgtgcgagc
ctcaactctcaggtgtggagcgctctgcagatgagcaaggctctgcaggactcggccccc
gacaggcccagccccgtggagaggatagtgagcagggacatcgctcgaggctacgagcgc
atccccatcccctgtgtcaacgccgtggacagcgagccatgccccagcaactacaagtac
gtctctcagaactgcgtgacgtcccccatgaacatcgacagaaatatcactcatctgcag
tactgcgtgtgcatcgacgactgctcctccagcaactgcatgtgcggccagctcagcatg
cgctgctggtacgacaaggatggccggctcctgccagagttcaacatggcggagcctccc
ttgatcttcgaatgcaaccacgcgtgctcctgctggaggaactgccgaaatcgcgtcgta
cagaatggtctcagggcaaggctgcagctctaccggacgcgggacatgggctggggcgtg
cggtccctgcaggacatcccaccaggcacctttgtctgcgagtatgttggggagctgatt
tcagactcagaagccgacgttcgagaggaagattcttacctctttgatctcgacaataag
gacggggaggtttactgcatcgacgcgcggttctacgggaacgtcagccggttcatcaac
caccactgcgagcccaacctggtgcccgtgcgcgtgttcatggcccaccaggacctgcgg
ttcccccggatcgccttcttcagcacccgcctgatcgaggccggcgagcagctcgggttt
gactatggagagcgcttctgggacatcaaaggcaagctcttcagctgccgctgcggctcc
cccaagtgccggcactcgagcgcggccctggcccagcgtcaggccagcgcggcccaggag
gcccaggaggacggcttgcccgacaccagctccgcggctgccgccgaccccctatga

  All links  
Disease (2)   
   OMIM (2)   
Gene (29)   
   RefGene (19)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (82)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (80)   
DNA sequence (121)   
   RefSeq(nuc) (81)   
   GenBank (20)   
   EMBL (20)   
3D Structure (22)   
   PDB (22)   
Protein domain (10)   
   Pfam (10)   
All databases (266)   

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