KEGG   Homo sapiens (human): 79813Help
Entry
79813             CDS       T01001                                 

Gene name
EHMT1, EHMT1-IT1, EUHMTASE1, Eu-HMTase1, FP13812, GLP, GLP1, KLEFS1, KMT1D
Definition
(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
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
   HMTs (histone methyltransferases)
    HKMTs (histone lysine methyltransferases)
     79813 (EHMT1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ank_2 Ank_4 Ank_5 Ank_3 Ank SET Pre-SET
Motif
Other DBs
NCBI-GeneID: 79813
NCBI-ProteinID: NP_079033
OMIM: 607001
HGNC: 24650
Ensembl: ENSG00000181090
Vega: OTTHUMG00000020995
Pharos: Q9H9B1(Tchem)
UniProt: Q9H9B1
Structure
PDB: 

Position
9q34.3
AA seq 1298 aa AA seqDB search
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 NT seq  +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

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