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
H02535  Neurodevelopmental disorder with dysmorphic facies
H02696  Early-onset epilepsy
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

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical substance (6)   
   KEGG COMPOUND (6)   
Chemical reaction (4)   
   KEGG ENZYME (1)   
   KEGG REACTION (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (47)   
   KEGG ORTHOLOGY (1)   
   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 (114)   

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