| Entry |
|
|---|
| Symbol |
SETD2, HBP231, HIF-1, HIP-1, HSPC069, HYPB, KMT3A, LLS, MRD70, RAPAS, SET2, p231HBP
|
|---|
| Name |
(RefSeq) SET domain containing 2, histone lysine methyltransferase
|
|---|
| KO |
|
|---|
| Organism |
|
|---|
| Pathway |
|
|---|
| Disease |
| H00773 | Autosomal dominant intellectual developmental disorder |
|
|---|
| Brite |
KEGG Orthology (KO) [BR:hsa00001]
09100 Metabolism
09105 Amino acid metabolism
00310 Lysine degradation
29072 (SETD2)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03036 Chromosome and associated proteins [BR:hsa03036]
29072 (SETD2)
Enzymes [BR:hsa01000]
2. Transferases
2.1 Transferring one-carbon groups
2.1.1 Methyltransferases
2.1.1.359 [histone H3]-lysine36 N-trimethyltransferase
29072 (SETD2)
Chromosome and associated proteins [BR:hsa03036]
Eukaryotic type
Histone modification proteins
HMTs (histone methyltransferases)
HKMTs (histone lysine methyltransferases)
29072 (SETD2)
|
|---|
| SSDB |
|
|---|
| Motif |
|
|---|
| Other DBs |
|
|---|
| Structure |
|
|---|
| LinkDB |
|
|---|
| Position |
3:complement(47016436..47164840)
|
|---|
| AA seq |
2564 aa
MKQLQPQPPPKMGDFYDPEHPTPEEEENEAKIENVQKTGFIKGPMFKGVASSRFLPKGTK
TKVNLEEQGRQKVSFSFSLTKKTLQNRFLTALGNEKQSDTPNPPAVPLQVDSTPKMKMEI
GDTLSTAEESSPPKSRVELGKIHFKKHLLHVTSRPLLATTTAVASPPTHAAPLPAVIAES
TTVDSPPSSPPPPPPPAQATTLSSPAPVTEPVALPHTPITVLMAAPVPLPVDVAVRSLKE
PPIIIVPESLEADTKQDTISNSLEEHVTQILNEQADISSKKEDSHIGKDEEIPDSSKISL
SCKKTGSKKKSSQSEGIFLGSESDEDSVRTSSSQRSHDLKFSASIEKERDFKKSSAPLKS
EDLGKPSRSKTDRDDKYFSYSKLERDTRYVSSRCRSERERRRSRSHSRSERGSRTNLSYS
RSERSHYYDSDRRYHRSSPYRERTRYSRPYTDNRARESSDSEEEYKKTYSRRTSSHSSSY
RDLRTSSYSKSDRDCKTETSYLEMERRGKYSSKLERESKRTSENEAIKRCCSPPNELGFR
RGSSYSKHDSSASRYKSTLSKPIPKSDKFKNSFCCTELNEEIKQSHSFSLQTPCSKGSEL
RMINKNPEREKAGSPAPSNRLNDSPTLKKLDELPIFKSEFITHDSHDSIKELDSLSKVKN
DQLRSFCPIELNINGSPGAESDLATFCTSKTDAVLMTSDDSVTGSELSPLVKACMLSSNG
FQNISRCKEKDLDDTCMLHKKSESPFRETEPLVSPHQDKLMSMPVMTVDYSKTVVKEPVD
TRVSCCKTKDSDIYCTLNDSNPSLCNSEAENIEPSVMKISSNSFMNVHLESKPVICDSRN
LTDHSKFACEEYKQSIGSTSSASVNHFDDLYQPIGSSGIASSLQSLPPGIKVDSLTLLKC
GENTSPVLDAVLKSKKSSEFLKHAGKETIVEVGSDLPDSGKGFASRENRRNNGLSGKCLQ
EAQEEGNSILPERRGRPEISLDERGEGGHVHTSDDSEVVFSSCDLNLTMEDSDGVTYALK
CDSSGHAPEIVSTVHEDYSGSSESSNDESDSEDTDSDDSSIPRNRLQSVVVVPKNSTLPM
EETSPCSSRSSQSYRHYSDHWEDERLESRRHLYEEKFESIASKACPQTDKFFLHKGTEKN
PEISFTQSSRKQIDNRLPELSHPQSDGVDSTSHTDVKSDPLGHPNSEETVKAKIPSRQQE
ELPIYSSDFEDVPNKSWQQTTFQNRPDSRLGKTELSFSSSCEIPHVDGLHSSEELRNLGW
DFSQEKPSTTYQQPDSSYGACGGHKYQQNAEQYGGTRDYWQGNGYWDPRSGRPPGTGVVY
DRTQGQVPDSLTDDREEEENWDQQDGSHFSDQSDKFLLSLQKDKGSVQAPEISSNSIKDT
LAVNEKKDFSKNLEKNDIKDRGPLKKRRQEIESDSESDGELQDRKKVRVEVEQGETSVPP
GSALVGPSCVMDDFRDPQRWKECAKQGKMPCYFDLIEENVYLTERKKNKSHRDIKRMQCE
CTPLSKDERAQGEIACGEDCLNRLLMIECSSRCPNGDYCSNRRFQRKQHADVEVILTEKK
GWGLRAAKDLPSNTFVLEYCGEVLDHKEFKARVKEYARNKNIHYYFMALKNDEIIDATQK
GNCSRFMNHSCEPNCETQKWTVNGQLRVGFFTTKLVPSGSELTFDYQFQRYGKEAQKCFC
GSANCRGYLGGENRVSIRAAGGKMKKERSRKKDSVDGELEALMENGEGLSDKNQVLSLSR
LMVRIETLEQKLTCLELIQNTHSQSCLKSFLERHGLSLLWIWMAELGDGRESNQKLQEEI
IKTLEHLPIPTKNMLEESKVLPIIQRWSQTKTAVPPLSEGDGYSSENTSRAHTPLNTPDP
STKLSTEADTDTPKKLMFRRLKIISENSMDSAISDATSELEGKDGKEDLDQLENVPVEEE
EELQSQQLLPQQLPECKVDSETNIEASKLPTSEPEADAEIEPKESNGTKLEEPINEETPS
QDEEEGVSDVESERSQEQPDKTVDISDLATKLLDSWKDLKEVYRIPKKSQTEKENTTTER
GRDAVGFRDQTPAPKTPNRSRERDPDKQTQNKEKRKRRSSLSPPSSAYERGTKRPDDRYD
TPTSKKKVRIKDRNKLSTEERRKLFEQEVAQREAQKQQQQMQNLGMTSPLPYDSLGYNAP
HHPFAGYPPGYPMQAYVDPSNPNAGKVLLPTPSMDPVCSPAPYDHAQPLVGHSTEPLSAP
PPVPVVPHVAAPVEVSSSQYVAQSDGVVHQDSSVAVLPVPAPGPVQGQNYSVWDSNQQSV
SVQQQYSPAQSQATIYYQGQTCPTVYGVTSPYSQTTPPIVQSYAQPSLQYIQGQQIFTAH
PQGVVVQPAAAVTTIVAPGQPQPLQPSEMVVTNNLLDLPPPSPPKPKTIVLPPNWKTARD
PEGKIYYYHVITRQTQWDPPTWESPGDDASLEHEAEMDLGTPTYDENPMKASKKPKTAEA
DTSSELAKKSKEVFRKEMSQFIVQCLNPYRKPDCKVGRITTTEDFKHLARKLTHGVMNKE
LKYCKNPEDLECNENVKHKTKEYIKKYMQKFGAVYKPKEDTELE |
|---|
| NT seq |
7695 nt +upstreamnt +downstreamnt
atgaagcagctgcagccgcagccgcctccgaagatgggggatttctacgacccggagcac
ccgacccctgaagaagaagaaaatgaggcaaagattgaaaatgtgcagaaaacaggtttc
atcaaaggaccaatgttcaaaggtgttgcttctagtcgatttttgcccaaaggcaccaaa
acaaaagttaatttggaagaacagggacgacagaaggtgtcattcagcttcagccttaca
aagaaaactttgcagaataggtttctcactgcacttggcaatgaaaagcaaagtgatact
ccaaaccctccagctgtacctcttcaggtagactcgactcctaaaatgaaaatggaaatt
ggtgataccttatctactgcagaagaatcttccccaccaaagtcaagggtggaattgggc
aaaattcattttaagaaacatctgcttcatgtaacatccaggccactgctggctactacc
acagcagtagcatctccacctactcatgcagcaccattaccagcagtgatagcagaatca
acaactgtagactcaccgccctcatctccgcctccaccgcctccacctgcccaagccaca
acactctcatcaccagcaccagtaacagagccagtggccttgccacatacaccaataaca
gttctaatggcagcaccagtacccttaccagtagatgtagcagttagatctctgaaagaa
ccaccaattataattgtaccagaatctttagaagcagatactaagcaggacactatatct
aatagtttagaagaacacgtaactcaaatattgaatgagcaagcagatatttcctcaaaa
aaagaagattcccatattgggaaggatgaagaaattccagatagttctaagattagtctg
agctgtaaaaaaacaggttctaagaagaaatcctcacaatctgaaggcatctttcttggt
tcagaatctgatgaagattctgtacggacttcttcaagtcaaagatcacatgatttaaaa
ttttcagcaagcattgaaaaggaaagagattttaaaaagagctcagcacctttaaaaagt
gaggatctagggaaaccttcacgatctaaaacagacagagatgataaatattttagctat
tcaaaacttgaaagagatactcggtatgtatcttcccgatgtagatcagaaagagagcga
cggcggagcagatctcactctaggtctgagagaggctctagaactaatttatcctattcc
aggtcagaacgatctcattattatgactctgatcgtcgctaccataggagctccccttat
cgagagaggacgcgctattctcggccatacacagataacagagcacgagagagttctgac
tcagaagaagagtataagaagacatactcaaggcgtacctcatctcattcctcttcttac
agagacctaaggacatcatcctattctaaatctgatcgggactgtaaaactgagacctct
tacttagagatggaaagaagaggcaagtattcttcaaaactagaaagagaatctaaaagg
acttcagaaaatgaagcaattaaaagatgttgttctccccctaatgaactgggattccga
cgagggtcatcatattctaagcatgacagtagtgcttcccgttataaatctaccctttca
aaacctatacccaagtctgataaatttaaaaattctttctgttgtacagaattaaatgaa
gaaatcaaacagtctcattcttttagtttacagacaccttgttcaaaaggtagtgaatta
agaatgattaataaaaatcctgaaagagaaaaggctgggtctccagctccatcaaatcga
ttaaatgattcacctactttaaaaaagctagatgaattgcctatttttaagtccgaattt
ataacacatgatagccatgatagtattaaggaattagactctttatctaaagtgaagaat
gatcaattaagaagtttttgtcccatagaattaaatataaatggatctcctggggcagaa
tctgatttggcaacattttgcacttctaaaactgatgctgttttaatgacttctgatgat
agtgtgactggatcggaattatcccctttggtcaaagcatgcatgctttcatcaaatgga
tttcagaatattagtaggtgcaaagaaaaagacttggatgatacctgcatgctgcataag
aagtcagaaagcccatttagagaaacagaacctctggtgtcaccacaccaagataaactc
atgtctatgccagttatgactgtggattattccaaaacagtagttaaagaaccagttgat
acgagggtttcttgctgcaaaaccaaagattcagacatatactgtactttgaacgatagc
aacccttctttgtgtaactctgaagctgaaaatattgagccttcagttatgaagatttct
tcaaatagctttatgaatgtgcatttggaatcaaaaccagttatatgtgatagtagaaat
ttgacagatcactcaaaatttgcatgtgaagaatataagcagagcatcggtagcactagt
tcagcttctgttaatcattttgatgatttatatcaacctattgggagttcaggtattgct
tcatctcttcagagtcttccaccaggaataaaggtggacagtctaactctcttgaaatgc
ggagagaacacatctccagttctggatgcagtgctaaagagtaaaaaaagttcagagttt
ttaaagcatgcagggaaagaaacaatagtagaagtaggtagtgaccttcctgattcagga
aagggatttgcttccagggagaacaggcgtaataatgggttatctgggaaatgtttgcaa
gaggctcaagaagaagggaattccatattgcctgaaagaagaggaagaccagaaatctct
ttagatgaaagaggagaaggaggacatgtgcatacttctgatgactcagaagttgtattt
tcttcttgtgatttgaatttaaccatggaagacagtgatggtgtaacttatgcattaaag
tgtgacagtagtggtcatgccccagaaattgtgtctacagttcatgaagattattctggc
tcttctgaaagttcaaatgatgaaagtgattcagaagatacagattcggatgatagcagt
attccaagaaaccgtctccagtctgttgtggttgtgccaaagaattctactttgcccatg
gaagaaacaagtccttgttcttctcggagcagtcaaagttatagacactattctgaccat
tgggaagatgagagattggagtcaaggagacatttgtatgaggaaaaatttgaaagtata
gcaagtaaagcctgtcctcaaactgataagtttttccttcataaaggaacagagaagaat
ccggaaatttcttttacacagtccagtagaaaacaaatagataatcgcctgcctgaactt
tctcatcctcagagtgatggggttgatagtacaagtcatacagatgtgaaatctgaccct
ctgggtcacccaaattcagaggaaaccgtgaaagccaaaataccttctaggcagcaagaa
gagctgccaatttattcttctgattttgaagatgtcccaaataagtcttggcaacagacc
actttccaaaacaggccagatagtagactgggaaaaacagaattgagtttttcttcctct
tgtgagataccacatgtggatggcttgcactcatcagaagagctcagaaacttaggttgg
gacttctctcaagaaaagccttctaccacgtatcagcaacctgacagtagctatggagct
tgtggtggacacaagtatcagcaaaatgcagaacagtatggtgggacacgtgattactgg
caaggcaatggttactgggatccaagatcaggtagacctcctggaactggggttgtgtat
gatcgaactcaaggacaagtaccagattccctaacagatgatcgtgaagaagaggagaat
tgggatcaacaggatggatcccatttttcagaccagtccgataaatttcttctatccctt
cagaaagacaaggggtcagtgcaagcacctgaaataagcagcaattccattaaggacact
ttagctgtgaatgaaaagaaagatttttcaaaaaacttagaaaaaaatgatatcaaagat
agagggcctcttaaaaaaaggaggcaggaaatagagagtgattctgaaagtgatggtgag
cttcaggacagaaagaaagttagagtggaggtagagcagggagagacatcagtgccccca
ggttcagcactggttgggccctcctgtgtcatggatgacttcagggacccacagcgatgg
aaggaatgtgccaagcaagggaaaatgccatgttactttgatcttattgaagaaaatgtt
tatttaacagaaagaaagaagaataaatctcatcgagatattaagcgaatgcagtgtgag
tgtacacctctttctaaagatgaaagagctcaaggtgaaatagcatgtggggaagattgt
cttaatcgtcttctcatgattgaatgttcttctcggtgtccaaatggggattattgttcc
aatagacggtttcagagaaaacagcatgcagatgtggaagtcatactcacagaaaagaaa
ggctggggcttgagagctgccaaagaccttccttcgaacacctttgtcctagaatattgt
ggagaggtactcgatcataaagagtttaaagctcgagtgaaggagtatgcacgaaacaaa
aacatccattactatttcatggccctgaagaatgatgagataatagatgccactcaaaaa
ggaaattgctctcgtttcatgaatcacagctgtgaaccaaattgtgaaacccaaaaatgg
actgtgaacggacaactgagggttgggttttttaccaccaaactggttccttcaggctca
gagttaacgtttgactatcagttccagagatatggaaaagaagcccagaaatgtttctgc
ggatcagccaattgccggggttacctgggaggagaaaacagagtcagcatcagagcagca
ggagggaaaatgaagaaggaacgatctcgtaagaaggattcagtggatggagagctagaa
gctctgatggaaaatggtgagggtctctctgataaaaaccaggtgctcagcttatcccgg
ctaatggttagaattgaaactttggagcagaaacttacctgtctggaactcatacagaac
acacactcacagtcctgcctgaagtcctttctggaacgtcatgggctgtctttgttgtgg
atctggatggcagagctaggtgacggccgggaaagtaaccagaagcttcaggaagagatt
ataaagactttggaacacttgcccattcctactaaaaatatgttggaggaaagcaaagta
cttccaattattcaacgctggtctcagactaagactgctgtccctccgttgagtgaagga
gatgggtattctagtgagaatacatcgcgtgctcatacaccactcaacacacctgatcct
tccaccaagctgagcacagaagctgacacagacactcccaagaaactaatgtttcgcaga
ctgaaaattataagtgaaaatagcatggacagtgcaatctctgatgcaaccagtgagcta
gaaggcaaggatggcaaagaggatcttgatcaattagaaaatgtccctgtagaggaagag
gaagaattgcagtcacaacagctactcccacaacagctgcctgaatgcaaagttgatagt
gaaaccaacatagaagctagtaagctacctacatctgaaccagaagctgacgctgaaata
gagcccaaagagagcaacggcacaaaactagaagaacctattaatgaagaaacaccatcc
caagatgaagaggagggtgtgtctgatgtggagagtgaaaggagccaagaacagccagat
aaaacagtggatataagtgatttggccaccaaactcctggacagttggaaagacctaaag
gaggtatatcgaattccaaagaaaagtcaaactgaaaaggaaaacacaacaactgaacga
ggaagggatgctgttggcttcagagatcaaacacctgccccgaagactcctaataggtca
agagagagagacccagacaagcaaactcaaaataaagagaaaaggaaacgaagaagctcc
ctctcaccaccctcttctgcctatgagcggggaacaaaaaggccagatgacagatatgat
acaccaacttctaaaaagaaagtacgaattaaagaccgcaataaactttctacagaggaa
cgccggaagttgtttgagcaagaggtggctcaacgggaggctcagaaacaacagcaacag
atgcagaacctgggaatgacatcaccactgccctatgactctcttggttataatgccccg
catcatccctttgctggttacccaccaggttatcccatgcaggcctatgtggatcccagc
aaccctaatgctggaaaggtgctcctgcccacacccagcatggacccagtgtgttctcct
gctccttatgatcatgctcagcccttggtgggacattctacagaacccctttctgcccct
ccaccagtaccagtggtgccacatgtggcagctcctgtggaagtttccagttcccagtat
gtggcccagagtgatggtgtagtacaccaagactccagcgttgctgtcttgccagtgccg
gcccccggcccagttcagggacagaattatagtgtttgggattcaaaccaacagtctgtc
agtgtacagcagcagtactctcctgcacagtctcaagcaaccatatattatcaaggacag
acatgtccaacagtctatggtgtgacatcaccttattcacagacaactccaccaattgta
cagagttatgcccagccaagtcttcagtatatccaggggcaacagattttcacagctcat
ccacaaggagtggtggtacagccagccgcagcagtgactacaatagttgcaccagggcag
cctcagcccttgcagccatctgaaatggttgtgacaaataatctcttggatctgccgccc
ccctctcctcccaaaccaaaaaccattgtcttacctcccaactggaagacagctcgagat
ccagaagggaagatttattactaccatgtgatcacaaggcagactcagtgggatcctcct
acttgggaaagcccaggagatgatgccagccttgagcatgaagctgagatggacctggga
actccaacatatgatgaaaaccccatgaaggcctcgaaaaagcccaagacagcagaagca
gacacctccagtgaactagcaaagaaaagcaaagaagtattcagaaaagagatgtcccag
ttcatcgtccagtgcctgaacccttaccggaaacctgactgcaaagtgggaagaattacc
acaactgaagactttaaacatctggctcgcaagctgactcacggtgttatgaataaggag
ctgaagtactgtaagaatcctgaggacctggagtgcaatgagaatgtgaaacacaaaacc
aaggagtacattaagaagtacatgcagaagtttggggctgtttacaaacccaaagaggac
actgaattagagtga |
|---|
