Homo sapiens (human): 55904
Help
Entry
55904 CDS
T01001
Symbol
KMT2E, HDCMC04P, MLL5, NKp44L, ODLURO, SETD5B
Name
(RefSeq) lysine methyltransferase 2E (inactive)
KO
K09189
[histone H3]-lysine4 N-trimethyltransferase MLL5 [EC:
2.1.1.354
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00310
Lysine degradation
hsa01100
Metabolic pathways
Disease
H02535
Neurodevelopmental disorder with dysmorphic facies
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09105 Amino acid metabolism
00310 Lysine degradation
55904 (KMT2E)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03036 Chromosome and associated proteins [BR:
hsa03036
]
55904 (KMT2E)
Enzymes [BR:
hsa01000
]
2. Transferases
2.1 Transferring one-carbon groups
2.1.1 Methyltransferases
2.1.1.354 [histone H3]-lysine4 N-trimethyltransferase
55904 (KMT2E)
Chromosome and associated proteins [BR:
hsa03036
]
Eukaryotic type
Histone modification proteins
HMTs (histone methyltransferases)
HKMTs (histone lysine methyltransferases)
55904 (KMT2E)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
SET
PHD_5
PHD
PHD_2
Motif
Other DBs
NCBI-GeneID:
55904
NCBI-ProteinID:
NP_061152
OMIM:
608444
HGNC:
18541
Ensembl:
ENSG00000005483
UniProt:
Q8IZD2
Structure
PDB
LinkDB
All DBs
Position
7:105014205..105115019
Genome browser
AA seq
1858 aa
AA seq
DB search
MSIVIPLGVDTAETSYLEMAAGSEPESVEASPVVVEKSNSYPHQLYTSSSHHSHSYIGLP
YADHNYGARPPPTPPASPPPSVLISKNEVGIFTTPNFDETSSATTISTSEDGSYGTDVTR
CICGFTHDDGYMICCDKCSVWQHIDCMGIDRQHIPDTYLCERCQPRNLDKERAVLLQRRK
RENMSDGDTSATESGDEVPVELYTAFQHTPTSITLTASRVSKVNDKRRKKSGEKEQHISK
CKKAFREGSRKSSRVKGSAPEIDPSSDGSNFGWETKIKAWMDRYEEANNNQYSEGVQREA
QRIALRLGNGNDKKEMNKSDLNTNNLLFKPPVESHIQKNKKILKSAKDLPPDALIIEYRG
KFMLREQFEANGYFFKRPYPFVLFYSKFHGLEMCVDARTFGNEARFIRRSCTPNAEVRHE
IQDGTIHLYIYSIHSIPKGTEITIAFDFDYGNCKYKVDCACLKENPECPVLKRSSESMEN
INSGYETRRKKGKKDKDISKEKDTQNQNITLDCEGTTNKMKSPETKQRKLSPLRLSVSNN
QEPDFIDDIEEKTPISNEVEMESEEQIAERKRKMTREERKMEAILQAFARLEKREKRREQ
ALERISTAKTEVKTECKDTQIVSDAEVIQEQAKEENASKPTPAKVNRTKQRKSFSRSRTH
IGQQRRRHRTVSMCSDIQPSSPDIEVTSQQNDIENTVLTIEPETETALAEIITETEVPAL
NKCPTKYPKTKKHLVNEWLSEKNEKTGKPSDGLSERPLRITTDPEVLATQLNSLPGLTYS
PHVYSTPKHYIRFTSPFLSEKRRRKEPTENISGSCKKRWLKQALEEENSAILHRFNSPCQ
ERSRSPAVNGENKSPLLLNDSCSLPDLTTPLKKRRFYQLLDSVYSETSTPTPSPYATPTH
TDITPMDPSFATPPRIKSDDETCRNGYKPIYSPVTPVTPGTPGNTMHFENISSPESSPEI
KRRTYSQEGYDRSSTMLTLGPFRNSNLTELGLQEIKTIGYTSPRSRTEVNRQCPGEKEPV
SDLQLGLDAVEPTALHKTLETPAHDRAEPNSQLDSTHSGRGTMYSSWVKSPDRTGVNFSV
NSNLRDLTPSHQLEVGGGFRISESKCLMQDDTRGMFMETTVFCTSEDGLVSGFGRTVNDN
LIDGNCTPQNPPQKKKVSLLEYRKRQREARKSGSKTENFPLISVSPHASGSLSNNGDGCA
SSNDNGEQVDHTASLPLPTPATVYNATSEETSNNCPVKDATASEKNEPEVQWTASTSVEQ
VRERSYQRALLLSDHRKDKDSGGESPCVSCSPSHVQSSPSSHSNHIPQLQAKGPVPSFSE
LMEDPDPENPEPTTTNECPSPDTSQNTCKSPPKMSKPGSPGSVIPAQAHGKIFTKPDPQW
DSTVSASEAENGVHLKTELQQKQLSNNNQALSKNHPPQTHVRNSSEQLSQKLPSVPTKLH
CPPSPHLENPPKSSTPHTPVQHGYLSPKPPSQQLGSPYRPHHSQSPQVGTPQREPQRNFY
PAAQNLPANTQQATSGTLFTQTPSGQSSATYSQFNQQSLNSTAPPPPPPPPPSSSYYQNQ
QPSANFQNYNQLKGSLSQQTVFTSGPNQALPGTTSQQTVPGHHVTPGHFLPSQNPTIHHQ
TAAAVVPPPPPPPPAPGPHLVQQPNSHQQHSVAHVVGPVHAVTPGSHIHSQTAGHHLPPP
PPPPGPAPHHHPPPHPSTGLQGLQAQHQHVVNSAPPPPPPPPPSSVLASGHHTTSAQALH
HPPHQGPPLFPSSAHPTVPPYPSQATHHTTLGPGPQHQPSGTGPHCPLPVTGPHLQPQGP
NSIPTPTASGFCPHPGSVALPHGVQGPQQASPVPGQIPIHRAQVPPTFQNNYHGSGWH
NT seq
5577 nt
NT seq
+upstream
nt +downstream
nt
atgagcatagtgatcccattgggggttgatacagcagagacgtcatacttggaaatggct
gcaggttcagaaccagaatccgtagaagctagccctgtggtagttgagaaatccaacagt
tatccccaccagttatataccagcagctcacatcattcacacagttacattggtttgccc
tatgcggaccataattatggtgctcgtcctcctccgacacctccggcttcccctcctcca
tcagtccttattagcaaaaatgaagtaggcatatttaccactcctaattttgatgaaact
tccagtgctactacaatcagcacatctgaggatggaagttatggtactgatgtaaccagg
tgcatatgtggttttacacatgatgatggatacatgatctgttgtgacaaatgcagcgtt
tggcaacatattgactgcatggggattgataggcagcatattcctgatacatatctatgt
gaacgttgtcagcctaggaatttggataaagagagggcagtgctactacaacgccggaaa
agggaaaatatgtcagatggtgataccagtgcaactgagagtggtgatgaggttcctgtg
gaattatatactgcatttcagcatactccaacatcaattactttaactgcttcaagagtt
tccaaagttaatgataaaagaaggaaaaaaagcggggagaaagaacaacacatttcaaaa
tgtaaaaaggcatttcgtgaaggatctaggaagtcatcaagagttaagggttcagctcca
gagattgatccttcatctgatggttcaaattttggatgggagacaaagatcaaagcatgg
atggatcgatatgaagaagcaaataacaaccagtacagtgagggtgttcagagggaggca
caaagaatagctctgagattaggcaatggaaatgacaaaaaagagatgaataaatccgat
ttgaataccaacaatttgctcttcaaacctcctgtagagagccatatacaaaagaataag
aaaattcttaaatctgcaaaagatttgcctcctgatgcacttatcattgaatacagaggg
aagtttatgctgagagaacagtttgaagcaaatgggtatttctttaaaagaccataccct
tttgtgttattctactctaaatttcatgggctagaaatgtgtgttgatgcaaggactttt
gggaatgaggctcgattcatcaggcggtcttgtacacccaatgcagaggtgaggcatgaa
attcaagatggaaccatacatctttatatttattctatacacagtattccaaagggaact
gaaattactattgcctttgattttgactatggaaattgtaagtacaaggtggactgtgca
tgcctcaaagaaaacccagagtgccctgttctaaaacgtagttctgaatccatggaaaat
atcaatagtggttatgagaccagacggaaaaaaggaaaaaaagacaaagatatttcaaaa
gaaaaagatacacaaaatcagaatattactttggattgtgaaggaacgaccaacaaaatg
aagagcccagaaactaaacaaagaaagctttctccactgagactatcagtatcaaataat
caggaaccagattttattgatgatatagaagaaaaaactcctattagtaatgaagtagaa
atggaatcagaggagcagattgcagaaaggaaaaggaagatgacaagagaagaaagaaaa
atggaagcaattttgcaagcttttgccagacttgaaaagagagagaaaagaagagaacaa
gctttggaaaggatcagcacagccaaaactgaagttaaaactgaatgtaaagatacacag
attgtcagtgatgctgaagttattcaggaacaagcaaaagaagaaaatgctagcaagcca
acccctgccaaagtaaatagaactaaacagagaaaaagtttttctcggagtaggactcac
attggacagcagcgtcggagacacagaactgtcagcatgtgttcagatatccagccatct
tctcctgatatagaagttacttcacaacaaaatgatattgaaaatactgtacttacaata
gaaccagaaactgaaactgcactagcagaaataattactgaaactgaagttccagcactt
aataaatgtcctaccaagtaccccaaaacaaagaagcacttggttaatgaatggttaagt
gagaagaatgagaagacaggaaaaccttcagatggcctttcagaaaggcctctacgcata
actacagatcctgaagtgttagctacacaactcaattctttaccaggtctcacttacagc
ccccatgtatactccactcctaagcattatattagatttacttcaccattcctttcagaa
aaaaggagaagaaaagaacctactgaaaacatttctggttcatgcaagaagcgatggttg
aaacaagctctggaagaagaaaattcagcaattttacatagatttaattcaccctgtcaa
gaaagatccagaagtcctgcagtcaatggtgaaaataaaagtccactactattaaatgac
agctgttcccttccagatttaactacaccactaaaaaaacgaagattttatcagttgcta
gattcggtttactcagaaacctccacacctactccttccccgtatgctacaccaactcac
accgatattactcctatggacccatcttttgccacgcctccacggataaaatcagatgat
gaaacttgtagaaatggttataaacccatatattcaccagttaccccagtaactcctggt
acaccaggaaataccatgcactttgagaatatttcttccccagaaagttctccagaaata
aagagacgcacttatagtcaagagggatatgacagatcttcaaccatgttaacattgggg
ccttttagaaattctaatttaactgaactgggtctgcaagaaataaagactattggttat
acgagccctaggagtaggactgaagtcaacaggcagtgtcctggagaaaaggaacctgtg
tcagaccttcagctaggactcgatgcagttgagccaactgccctacataaaaccctggaa
acgcctgcacatgacagggctgagcccaacagccaactggactcgactcactctggacgg
ggcacaatgtattcttcctgggtaaagagccctgacagaacaggagttaacttctcagtg
aactccaacttgagggacctgacaccctcgcatcagttggaggttggaggaggcttccga
ataagtgagtcaaagtgcctgatgcaggatgatactagaggcatgtttatggaaacaact
gtgttttgtacttccgaagatgggcttgtatctggtttcggacggactgttaatgacaat
ttgatcgacgggaattgcacaccccagaatccaccacaaaagaaaaaggtttctctatta
gaataccgtaagagacaacgtgaagctaggaaaagtggctctaagacagagaactttcca
ctcattagtgtatcaccccatgcaagtggaagcttgagcaacaatggtgatggctgtgcc
agcagtaatgacaatggggagcaggtggaccacactgctagcctacctttaccaacacca
gctacagtttataatgccacttctgaagaaactagcaataactgccctgttaaggatgct
actgctagtgagaagaatgaaccagaagttcaatggactgcctcaacttcagtggaacaa
gtcagagaaaggagttatcagagagctttacttctcagtgatcaccgaaaagataaagat
agtgggggagaatcaccatgtgtctcatgttcaccgagtcatgttcagtcttcaccttca
tctcattcaaatcacataccccagttgcaagctaagggcccagtcccttctttcagtgaa
cttatggaagaccctgatcctgaaaatccagaacccacaactacgaatgaatgtccatcc
ccagatacttctcaaaatacttgtaaaagtcctccaaaaatgagcaagcctggttcacct
ggatctgtaattcctgctcaagcacacgggaaaatattcacaaaaccagatccccaatgg
gactccacagttagtgcatccgaagctgaaaatggtgttcacctaaaaacagagctccaa
caaaaacagctatcaaataacaaccaagcactttcaaagaatcatcctcctcagacacac
gttcgtaattcatctgagcaactttcacaaaagctgccttctgtgccaacaaagttgcac
tgtcctccatcacctcacctagaaaatcctccaaagtcatccacgcctcacacacctgta
cagcatggttatctttcaccaaagcctccttcacagcagttaggatctccctacaggcct
catcattcacagtcacctcaagttggaacacctcagcgagagcctcaaagaaacttttat
ccagcagcacagaaccttccagccaatactcagcaggcaacttctggaacattatttaca
cagacaccctcaggacaatcttcagcaacatacagtcagtttaaccaacaaagtctgaac
agcacggcaccaccccctccacctcctccacctccttcttcgtcttactatcaaaaccag
cagccctctgcaaactttcagaattataatcagctcaaaggtagtctttctcaacaaact
gtgtttacatcaggaccaaatcaagcacttcctggcaccacaagccagcaaacagttcca
ggacaccacgtgactccagggcattttttgccctctcagaaccctaccattcaccatcaa
actgctgctgccgtagtcccccctcctcctccaccaccacctgctccaggaccgcacctt
gtacaacagccgaattcccatcagcaacactctgtagcacatgtagtagggcctgttcat
gcggtcacccctgggtcgcatattcattctcaaactgctggacaccacttacccccaccc
ccaccccctcctggtcctgcccctcatcaccatccaccaccccatccatccacaggactc
caaggtctacaagcacaacaccagcatgttgtaaattcagcacccccaccaccccctccg
ccgccaccttccagtgttttggcttctgggcatcataccacatcagctcaagccttacac
cacccacctcatcaaggacctccactttttccttcgagtgctcatccaactgtaccaccg
tatccctcacaagctacacatcataccactttgggaccgggaccccagcaccagccttct
ggaacagggccacattgtccattacctgtcacaggtcctcatctccagccccaaggacca
aacagtattccaacacctactgcttcagggttctgtcctcatcctggctctgtggccctg
ccacatggggttcaaggacctcagcaggcatctccagtgcctggacagattccaattcac
agagcacaggtgccaccaacatttcaaaacaattaccatgggtcagggtggcattaa
DBGET
integrated database retrieval system
