Homo sapiens (human): 9739
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
N-SET
SET
RRM_1
Topoisom_I_N
Motif
Other DBs
NCBI-GeneID:
9739
NCBI-ProteinID:
NP_055527
OMIM:
611052
HGNC:
29010
Ensembl:
ENSG00000099381
UniProt:
O15047
Structure
PDB
PDBj
LinkDB
All DBs
Position
16:30957754..30984664
Genome browser
AA seq
1707 aa
AA seq
DB search
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
NT seq
+upstream
nt +downstream
nt
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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integrated database retrieval system
