KEGG   Homo sapiens (human): 9739
Entry
9739              CDS       T01001                                 
Symbol
SETD1A, EPEDD, EPEO2, KMT2F, NEDSID, Set1, Set1A
Name
(RefSeq) SET domain containing 1A, histone lysine methyltransferase
  KO
K11422  [histone H3]-lysine4 N-trimethyltransferase SETD1 [EC:2.1.1.354]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00310  Lysine degradation
hsa01100  Metabolic pathways
Disease
H02696  Early-onset epilepsy
H02803  Neurodevelopmental disorder with histone modification defect
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00310 Lysine degradation
    9739 (SETD1A)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    9739 (SETD1A)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.354  [histone H3]-lysine4 N-trimethyltransferase
     9739 (SETD1A)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HMTs (histone methyltransferases)
    HKMTs (histone lysine methyltransferases)
     9739 (SETD1A)
   HMT complexes
    COMPASS/SET1 complex
     9739 (SETD1A)
    COMPASS/SET1 complex (yeast)
     9739 (SETD1A)
SSDB
Motif
Pfam: N-SET SET RRM_1 Topoisom_I_N
Other DBs
NCBI-GeneID: 9739
NCBI-ProteinID: NP_055527
OMIM: 611052
HGNC: 29010
Ensembl: ENSG00000099381
UniProt: O15047
Structure
Position
16:30957754..30984664
AA seq 1707 aa
MDQEGGGDGQKAPSFQWRNYKLIVDPALDPALRRPSQKVYRYDGVHFSVNDSKYIPVEDL
QDPRCHVRSKNRDFSLPVPKFKLDEFYIGQIPLKEVTFARLNDNVRETFLKDMCRKYGEV
EEVEILLHPRTRKHLGLARVLFTSTRGAKETVKNLHLTSVMGNIIHAQLDIKGQQRMKYY
ELIVNGSYTPQTVPTGGKALSEKFQGSGAATETAESRRRSSSDTAAYPAGTTAVGTPGNG
TPCSQDTSFSSSRQDTPSSFGQFTPQSSQGTPYTSRGSTPYSQDSAYSSSTTSTSFKPRR
SENSYQDAFSRRHFSASSASTTASTAIAATTAATASSSASSSSLSSSSSSSSSSSSSQFR
SSDANYPAYYESWNRYQRHTSYPPRRATREEPPGAPFAENTAERFPPSYTSYLPPEPSRP
TDQDYRPPASEAPPPEPPEPGGGGGGGGPSPEREEVRTSPRPASPARSGSPAPETTNESV
PFAQHSSLDSRIEMLLKEQRSKFSFLASDTEEEEENSSMVLGARDTGSEVPSGSGHGPCT
PPPAPANFEDVAPTGSGEPGATRESPKANGQNQASPCSSGDDMEISDDDRGGSPPPAPTP
PQQPPPPPPPPPPPPPYLASLPLGYPPHQPAYLLPPRPDGPPPPEYPPPPPPPPHIYDFV
NSLELMDRLGAQWGGMPMSFQMQTQMLTRLHQLRQGKGLIAASAGPPGGAFGEAFLPFPP
PQEAAYGLPYALYAQGQEGRGAYSREAYHLPMPMAAEPLPSSSVSGEEARLPPREEAELA
EGKTLPTAGTVGRVLAMLVQEMKSIMQRDLNRKMVENVAFGAFDQWWESKEEKAKPFQNA
AKQQAKEEDKEKTKLKEPGLLSLVDWAKSGGTTGIEAFAFGSGLRGALRLPSFKVKRKEP
SEISEASEEKRPRPSTPAEEDEDDPEQEKEAGEPGRPGTKPPKRDEERGKTQGKHRKSFA
LDSEGEEASQESSSEKDEEDDEEDEEDEDREEAVDTTKKETEVSDGEDEESDSSSKCSLY
ADSDGENDSTSDSESSSSSSSSSSSSSSSSSSSSSSSSESSSEDEEEEERPAALPSASPP
PREVPVPTPAPVEVPVPERVAGSPVTPLPEQEASPARPAGPTEESPPSAPLRPPEPPAGP
PAPAPRPDERPSSPIPLLPPPKKRRKTVSFSAIEVVPAPEPPPATPPQAKFPGPASRKAP
RGVERTIRNLPLDHASLVKSWPEEVSRGGRSRAGGRGRLTEEEEAEPGTEVDLAVLADLA
LTPARRGLPALPAVEDSEATETSDEAERPRPLLSHILLEHNYALAVKPTPPAPALRPPEP
VPAPAALFSSPADEVLEAPEVVVAEAEEPKPQQLQQQREEGEEEGEEEGEEEEEESSDSS
SSSDGEGALRRRSLRSHARRRRPPPPPPPPPPRAYEPRSEFEQMTILYDIWNSGLDSEDM
SYLRLTYERLLQQTSGADWLNDTHWVHHTITNLTTPKRKRRPQDGPREHQTGSARSEGYY
PISKKEKDKYLDVCPVSARQLEGVDTQGTNRVLSERRSEQRRLLSAIGTSAIMDSDLLKL
NQLKFRKKKLRFGRSRIHEWGLFAMEPIAADEMVIEYVGQNIRQMVADMREKRYVQEGIG
SSYLFRVDHDTIIDATKCGNLARFINHCCTPNCYAKVITIESQKKIVIYSKQPIGVDEEI
TYDYKFPLEDNKIPCLCGTESCRGSLN
NT seq 5124 nt   +upstreamnt  +downstreamnt
atggatcaggaaggtgggggagatgggcagaaggccccgagcttccagtggcggaactac
aagctcatcgtggatcctgccttggaccctgccctgcgcaggccttctcagaaggtgtac
cgctatgatggagtccacttcagtgtcaacgactcaaagtatataccagtcgaagacctc
caagacccccgttgccatgtcaggtccaaaaacagagacttttccctcccagtccctaag
tttaagctggacgagttctatattggacagattccactgaaggaagtgacttttgcaagg
ctgaatgacaacgtgcgggagaccttcctgaaggatatgtgccgtaagtacggtgaggtg
gaagaggtagagatcctccttcacccccgtacgcgcaagcacctgggcctggcccgtgtg
ctcttcaccagcactcggggcgccaaggaaacggtcaaaaacctccaccttacctccgtc
atgggcaacatcatccatgcccagcttgacatcaaaggacaacaacgaatgaaatactat
gaactaattgtcaatggctcctacacccctcagactgtgcccactgggggcaaggccctg
agtgagaagttccaaggctcgggtgcagccactgagacggccgaatcccgccgccgctct
tcctctgacacagctgcctacccagcaggcaccactgcggtgggcactcctggcaacggc
accccctgctcccaggacacaagcttctccagcagccgacaagataccccatcttccttt
ggccagttcacacctcagtcctcccaaggaaccccctacacgtctcggggcagcaccccc
tactctcaggactctgcctactccagcagcaccacttcaacctccttcaagccccggcgg
tcagagaacagctaccaagatgccttttcccgccgccacttctctgcatcttcagcctcc
acaaccgcctccacggccatcgccgccaccactgcagccactgcctcatcctccgcctct
tcctcctcattgtcctcgtcctcctcgtcatcctcttcctcctcgtcctctcagtttcgt
agttctgatgcaaactacccagcgtattatgaaagctggaatcgctaccagcgccatact
tcctacccaccacgccgggccacacgggaggaaccccctggagccccttttgctgaaaat
acagctgagcgcttcccaccttcttacacctcctacctgccccccgagcccagccggccc
accgaccaggactaccggcctcctgcctcagaggctccacccccggagcctccagaacct
ggtggaggcgggggtggaggagggcccagccctgagagagaagaagttcggacttccccc
cgcccagcctcccctgcccgctctggctccccagccccggagaccaccaatgagagtgtg
cccttcgcccagcacagcagcctggattcccgcatcgagatgctgctgaaggagcagcgc
tccaagttttccttcttggcctctgacacagaggaggaggaagagaacagcagcatggtc
cttggggccagagatacagggagtgaggtgccttctgggtcagggcatgggccctgcaca
ccccctccggccccagctaattttgaggatgtggcacctacagggagcggggagccaggg
gctacccgggagtctcccaaggcaaatggacagaaccaggcttctccatgctcttctgga
gacgacatggagatctccgacgacgaccggggtggctcaccccctccggccccgacgccc
cctcagcagcctccgccacctccccctcccccgccgcctcctcctccctacctggcgtcc
cttcctcttggttatcctccccaccaacctgcctacctcctcccacccagacctgatggg
ccgccgccccctgagtaccccccacctcctccaccacccccgcacatctatgactttgtg
aactccttggagctcatggaccgacttggggctcagtggggagggatgcccatgtccttc
cagatgcagacccagatgttaactcggctccatcagctgcggcagggcaagggattgatt
gccgcctcagctggcccccccggtggggcctttggggaggccttcctcccgtttccaccc
ccgcaggaggcagcctacggcttgccgtatgctctatatgcacaggggcaggagggcaga
ggggcatactcacgggaggcctaccacctgcccatgccaatggcagccgagcccctgccc
tcctcctcagtctcgggagaggaggcccggctgccacccagggaagaagcagagctggca
gagggcaagaccctcccgacagcaggcaccgtgggccgtgtgctcgccatgctggtccag
gagatgaagagcatcatgcagcgagacctcaaccgcaagatggtggagaacgtggccttc
ggagcctttgaccagtggtgggagagcaaggaggagaaggccaagccattccagaacgcg
gccaagcagcaagccaaggaggaggataaagagaagacgaagctgaaggagcctggcctg
ctgtccctcgtggactgggccaagagcgggggcactacgggcatcgaggctttcgccttt
gggtcagggctgagaggggccctgcggctgccttcattcaaggtaaagcggaaagagcca
tcggaaatttccgaggccagtgaggaaaagaggcctcgtccctccactcctgctgaggaa
gatgaagacgaccctgaacaagagaaggaggctggagagccaggacgtccggggaccaag
cccccgaagcgggacgaagagcgaggcaagacccagggcaagcaccgcaagtcctttgct
ctggacagcgaaggggaggaggcatcccaggagtcctcctcggagaaggatgaggaggat
gacgaggaagatgaggaagatgaagatcgagaggaagctgtggataccacaaagaaggag
acagaggtgtcggatggcgaggacgaggaaagcgattcgtcttccaaatgttctctgtat
gctgactcagatggcgaaaatgacagcacatcagactccgagagcagcagctcttccagc
tcctcatcctcctcctcctcctcgtcctcatcctcctcgtcctcttcatcctctgagtcc
tcctctgaagatgaagaggaagaggagcggccagcagcccttccctcagcctccccgccc
cccagagaagtcccagtgcccacgccagcacctgtggaggtgccagtgccggaaagggtt
gcaggctccccagtcacacccctgcccgaacaggaggcgtctccagcaaggcctgcaggc
cccacggaggagtcaccccccagtgcgcctctgcgtcccccagaaccacctgctgggccc
ccggcccctgccccacgccccgatgagcgtccctcttctcccatccccctcctgccccca
cccaagaaacgccggaaaactgtctccttctctgccatcgaggtggtgccagccccggag
ccccctccagccacaccgccgcaggccaagtttcccggcccagcctcccgcaaggctccc
cggggcgtggagcggaccatccgcaacctgcccctggaccacgcatctctggtcaagagt
tggcccgaggaggtgtcccgaggaggccggagccgggctggaggccgaggccgcctcacc
gaggaagaggaggctgagccagggacagaggtggacctggcggtcctggccgacctggcc
ctgacccctgcccggcgcgggctgcctgccctgcctgctgttgaagactcagaggccaca
gagacatcggacgaggccgagcgccctaggcccctgctcagccacatcctcctggagcac
aactatgccctggccgtcaagcccacgccccctgcgccagccctgcggcccccggagcca
gtgcccgcacccgccgccctcttcagttccccagctgatgaggtcctggaggcccccgag
gtggtggtggctgaggcggaggagcccaagccgcagcaactgcagcagcagcgggaggag
ggcgaagaggagggggaggaagagggggaggaagaggaggaggagtcctctgacagcagc
agcagcagcgatggggagggcgccctccggaggcgcagcctccgctcccacgcccggcgc
cgccgccctccgcccccacccccgccgccaccgccccgcgcctacgagccacgcagtgag
tttgaacagatgaccatcctgtatgacatttggaactcgggcctggactcagaggacatg
agttacctgcggcttacgtacgagcggctgctgcagcagacaagcggggctgactggctc
aacgacactcactgggtccatcacacaatcaccaacctgaccaccccaaaacgcaagcgg
cggccccaggatgggccccgggagcaccagacaggctcagcccgcagcgaaggctactac
cccatcagcaagaaggagaaggacaagtacctggacgtgtgcccagtctcggcccggcag
ctggagggcgtggacactcaggggacgaaccgcgtgctgtccgagcgccggtccgagcag
cggcggctgctgagcgccatcggtacctccgccatcatggacagtgacctgctgaaactc
aaccagctcaagttccggaagaagaagctccgatttggccggagccggatccacgagtgg
ggtctgtttgccatggaacccattgctgctgacgagatggtcatcgaatacgtgggtcag
aacatccgtcagatggtggccgacatgcgggagaagcgctacgtgcaggagggcattggc
agcagctacctgttccgggtggaccacgacaccatcatcgatgccaccaagtgtggcaac
ctggccagattcatcaaccactgctgcacgcctaactgctacgccaaggtcatcaccatc
gagtcccagaagaagatcgtgatctactccaagcagcccattggcgtggacgaggagatc
acctacgactacaagttcccactggaagacaacaagatcccgtgtctgtgtggcacagag
agctgccggggctccctaaactga

  All links  
Disease (3)   
   OMIM (3)   
Gene (46)   
   RefGene (39)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (17)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (15)   
DNA sequence (21)   
   RefSeq(nuc) (15)   
   GenBank (3)   
   EMBL (3)   
3D Structure (4)   
   PDB (4)   
Protein domain (4)   
   Pfam (4)   
All databases (95)   

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