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Basic Information Integrated Annotations
Tag Content
UUCD2 ID IUUC-Hsa-046143
Ensembl Protein ID ENSP00000374157.5
UniProt Accession Q03164; E9PQG7; Q13743; Q13744; Q14845; Q16364; Q59FF2; Q6UBD1; Q9HBJ3; Q9UD94; Q9UMA3; KMT2A_HUMAN
Genbank Protein ID AAA58669.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; CAA93625.1; AAQ63624.1; BAA03407.1; BAD92745.1; AAA92511.1; CAA58584.1; AAB34770.1; AAA18644.1; AAB28545.1; AAG26
Protein Name Histone-lysine N-methyltransferase 2A; ALL-1; CXXC-type zinc finger protein 7; Myeloid/lymphoid or mixed-lineage leukemia; Myeloid/lymphoid or mixed-lineage leukemia protein 1; Trithorax-like protein; Zinc finger protein HRX; MLL cleavage product N320; N-terminal cleavage product of 320 kDa; MLL cleavage product C180; C-terminal cleavage product of 180 kDa
Genbank Nucleotide ID L04284; Z69744; Z69745; Z69746; Z69747; Z69748; Z69749; Z69750; Z69751; Z69752; Z69753; Z69754; Z69755; Z69756; Z69757; Z69758; Z69759; Z69760; Z69761; Z69762; Z69763; Z69764; Z69765; Z69766; Z69767; Z69768; Z69769; Z69770; Z69772; Z69773; Z69774; Z69775; Z69776; Z69777; Z69778; Z69779; Z69780; AY373585; AP000941; AB209508; L04731; X83604; S78570; U04737; S66432; AF232001; AF231998
Gene Name KMT2A; ALL1; CXXC7; HRX; HTRX; MLL; MLL1; TRX1
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000118058.20 ENST00000534358.5 ENSP00000436786.1
ENSG00000118058.20 ENST00000531904.6 ENSP00000432391.2
ENSG00000118058.20 ENST00000389506.9 ENSP00000374157.5
ENSG00000118058.20 ENST00000532204.5 ENSP00000434618.1
ENSG00000118058.20 ENST00000527869.6 ENSP00000432652.2
ENSG00000118058.20 ENST00000533790.1 ENSP00000436700.1
ENSG00000118058.20 ENST00000392873.3 ENSP00000376612.3
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsiteCircNetmiRTarBase
microRNATRANSFACmiRecordsRepTar
SomamiRmiRcodeRAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Information
ClinVarGWASdbOMIM
Drug and target
TTDGRAC
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPhospho.ELMUniProtBioGRID
mUbiSiDa
DNA Methylation
MethyCancerTCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
E3 activity/RING/PHD PHD 23129768; 24291127
Classification
Family E-value Score Start End
E3 activity/RING/PHD 2.10e-25 90.3 1480 1533
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 activity/RING/PHD
   S: 2    kvClvCgeggedekslveCekCrewfHpaClklsveeelpnsek..wiCpkCrsk 54
           k+C+vCg++++ +k+l+eC+kCr+ +Hp+Cl+++ ++++p+++k  wiC+kC ++
   Q: 1480 KFCHVCGRQHQATKQLLECNKCRNSYHPECLGPN-YPTKPTKKKkvWICTKCVRC 1533
           58********************************.*****99999*******876 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac). In the MLL1/MLL complex, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation. Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity. Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9'. Required for transcriptional activation of HOXA9. Promotes PPP1R15A-induced apoptosis. Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-ARNTL/BMAL1 heterodimer. Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-ARNTL/BMAL1 to chromatin (By similarity).
 Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac). In the MLL1/MLL complex, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation. Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity. Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9'. Required for transcriptional activation of HOXA9. Promotes PPP1R15A-induced apoptosis. Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-ARNTL/BMAL1 heterodimer. Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-ARNTL/BMAL1 to chromatin (By similarity).
Protein Sequence
(Fasta)
MAHSCRWRFP ARPGTTGGGG GGGRRGLGGA PRQRVPALLL PPGPPVGGGG PGAPPSPPAV 60
AAAAAAAGSS GAGVPGGAAA ASAASSSSAS SSSSSSSSAS SGPALLRVGP GFDAALQVSA 120
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Protein Fasta Sequence


>IUUC-Hsa-046143|E3,PHD|Homo sapiens
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Nucleotide Sequence
(Fasta)
CTGCTTCACT TCACGGGGCG AACATGGCGC ACAGCTGTCG GTGGCGCTTC CCCGCCCGAC 60
CCGGGACCAC CGGGGGCGGC GGCGGCGGGG GGCGCCGGGG CCTAGGGGGC GCCCCGCGGC 120
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Nucleotide Fasta Sequence


>IUUC-Hsa-046143|E3,PHD|Homo sapiens
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Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0007--Acetylation
KW-0025--Alternative splicing
KW-0053--Apoptosis
KW-0090--Biological rhythms
KW-0103--Bromodomain
KW-0156--Chromatin regulator
KW-0160--Chromosomal rearrangement
KW-0181--Complete proteome
KW-0903--Direct protein sequencing
KW-0238--DNA-binding
KW-0479--Metal-binding
KW-0489--Methyltransferase
KW-0539--Nucleus
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-0656--Proto-oncogene
KW-1185--Reference proteome
KW-0677--Repeat
KW-0949--S-adenosyl-L-methionine
KW-0804--Transcription
KW-0805--Transcription regulation
KW-0808--Transferase
KW-0862--Zinc
KW-0863--Zinc-finger
Interpro

IPR001487--Bromodomain
IPR034732--EPHD
IPR003889--FYrich_C
IPR003888--FYrich_N
IPR016569--MeTrfase_trithorax
IPR003616--Post-SET_dom
IPR001214--SET_dom
IPR002857--Znf_CXXC
IPR011011--Znf_FYVE_PHD
IPR001965--Znf_PHD
IPR019787--Znf_PHD-finger
IPR013083--Znf_RING/FYVE/PHD
PROSITE

PS50014--BROMODOMAIN_2
PS51805--EPHD
PS51543--FYRC
PS51542--FYRN
PS50868--POST_SET
PS50280--SET
PS51058--ZF_CXXC
PS01359--ZF_PHD_1
PS50016--ZF_PHD_2
Pfam

PF05965--FYRC
PF05964--FYRN
PF00628--PHD
PF00856--SET
PF02008--zf-CXXC
SMART

SM00297--BROMO
SM00542--FYRC
SM00541--FYRN
SM00249--PHD
SM00508--PostSET
SM00317--SET
Gene Ontology

GO:0005829--C:cytosol
GO:0035097--C:histone methyltransferase complex
GO:0071339--C:MLL1 complex
GO:0005654--C:nucleoplasm
GO:0005634--C:nucleus
GO:0003680--F:AT DNA binding
GO:0003682--F:chromatin binding
GO:0001046--F:core promoter sequence-specific DNA binding
GO:0042800--F:histone methyltransferase activity (H3-K4 specific)
GO:0018024--F:histone-lysine N-methyltransferase activity
GO:0042802--F:identical protein binding
GO:0070577--F:lysine-acetylated histone binding
GO:0042803--F:protein homodimerization activity
GO:0003700--F:transcription factor activity, sequence-specific DNA binding
GO:0044212--F:transcription regulatory region DNA binding
GO:0045322--F:unmethylated CpG binding
GO:0008270--F:zinc ion binding
GO:0009952--P:anterior/posterior pattern specification
GO:0006915--P:apoptotic process
GO:0032922--P:circadian regulation of gene expression
GO:0060216--P:definitive hemopoiesis
GO:0006306--P:DNA methylation
GO:0035162--P:embryonic hemopoiesis
GO:0035640--P:exploration behavior
GO:0044648--P:histone H3-K4 dimethylation
GO:0051568--P:histone H3-K4 methylation
GO:0080182--P:histone H3-K4 trimethylation
GO:0043984--P:histone H4-K16 acetylation
GO:0048873--P:homeostasis of number of cells within a tissue
GO:0051899--P:membrane depolarization
GO:0008285--P:negative regulation of cell proliferation
GO:0018026--P:peptidyl-lysine monomethylation
GO:2001040--P:positive regulation of cellular response to drug
GO:0051571--P:positive regulation of histone H3-K4 methylation
GO:0045944--P:positive regulation of transcription from RNA polymerase II promoter
GO:0045893--P:positive regulation of transcription, DNA-templated
GO:0032411--P:positive regulation of transporter activity
GO:0009791--P:post-embryonic development
GO:0006461--P:protein complex assembly
GO:0071440--P:regulation of histone H3-K14 acetylation
GO:1901674--P:regulation of histone H3-K27 acetylation
GO:2000615--P:regulation of histone H3-K9 acetylation
GO:0048172--P:regulation of short-term neuronal synaptic plasticity
GO:0035864--P:response to potassium ion
GO:0048536--P:spleen development
GO:0006366--P:transcription from RNA polymerase II promoter
GO:0008542--P:visual learning
KEGG hsa:4297
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Ata-001054 Aegilops tauschii 34.74 8.00e-13 69.30
IUUC-Aml-002274 Ailuropoda melanoleuca 94.89 0.00e+00 6128.00
IUUC-Atr-002455 Amborella trichopoda 48.10 8.00e-39 155.00
IUUC-Apl-003478 Anas platyrhynchos 79.60 0.00e+00 3986.00
IUUC-Aca-005086 Anolis carolinensis 65.29 0.00e+00 2934.00
IUUC-Aly-006448 Arabidopsis lyrata 48.10 4.00e-39 157.00
IUUC-Ath-006690 Arabidopsis thaliana 47.40 5.00e-37 150.00
IUUC-Ame-011195 Astyanax mexicanus 43.29 0.00e+00 775.00
IUUC-Bta-012974 Bos taurus 94.54 0.00e+00 6053.00
IUUC-Bol-016540 Brassica oleracea 48.05 2.00e-37 151.00
IUUC-Cja-019226 Callithrix jacchus 96.22 0.00e+00 6219.00
IUUC-Cfa-021049 Canis familiaris 94.75 0.00e+00 6037.00
IUUC-Cpo-021459 Cavia porcellus 93.09 0.00e+00 4293.00
IUUC-Cre-022891 Chlamydomonas reinhardtii 50.00 1.00e-38 156.00
IUUC-Csa-023434 Chlorocebus sabaeus 98.96 0.00e+00 5772.00
IUUC-Cho-024652 Choloepus hoffmanni 90.27 0.00e+00 3899.00
IUUC-Cin-025724 Ciona intestinalis 54.46 2.00e-96 347.00
IUUC-Csv-026268 Ciona savignyi 37.11 5.00e-135 476.00
IUUC-Cme-027224 Cyanidioschyzon merolae 34.18 4.00e-12 67.40
IUUC-Dre-028180 Danio rerio 69.06 0.00e+00 1168.00
IUUC-Dno-029068 Dasypus novemcinctus 90.92 0.00e+00 5728.00
IUUC-Dor-030550 Dipodomys ordii 87.16 0.00e+00 5071.00
IUUC-Ete-032834 Echinops telfairi 84.92 0.00e+00 2787.00
IUUC-Eca-033615 Equus caballus 95.56 0.00e+00 5978.00
IUUC-Eeu-035136 Erinaceus europaeus 82.96 0.00e+00 1182.00
IUUC-Fca-036453 Felis catus 91.26 0.00e+00 2665.00
IUUC-Fal-037256 Ficedula albicollis 78.65 0.00e+00 4989.00
IUUC-Gmo-038641 Gadus morhua 67.91 0.00e+00 1098.00
IUUC-Gga-040828 Gallus gallus 79.03 0.00e+00 4934.00
IUUC-Gac-041452 Gasterosteus aculeatus 71.00 0.00e+00 1165.00
IUUC-Gma-043554 Glycine max 49.02 4.00e-38 153.00
IUUC-Ggo-045124 Gorilla gorilla 96.04 0.00e+00 5996.00
IUUC-Itr-049024 Ictidomys tridecemlineatus 92.65 0.00e+00 5282.00
IUUC-Lch-049704 Latimeria chalumnae 64.04 0.00e+00 3843.00
IUUC-Loc-052181 Lepisosteus oculatus 79.16 0.00e+00 1319.00
IUUC-Laf-053946 Loxodonta africana 94.68 0.00e+00 5872.00
IUUC-Mcc-055508 Macaca mulatta 99.02 0.00e+00 6227.00
IUUC-Meu-056485 Macropus eugenii 81.79 0.00e+00 3019.00
IUUC-Mtr-058327 Medicago truncatula 41.96 5.00e-39 156.00
IUUC-Mga-059943 Meleagris gallopavo 76.46 0.00e+00 4561.00
IUUC-Mmr-061178 Microcebus murinus 93.88 0.00e+00 4497.00
IUUC-Mdo-063031 Monodelphis domestica 86.19 0.00e+00 4016.00
IUUC-Mmu-063650 Mus musculus 89.31 0.00e+00 4135.00
IUUC-Mpu-066495 Mustela putorius furo 95.55 0.00e+00 4160.00
IUUC-Mlu-068045 Myotis lucifugus 85.95 0.00e+00 5407.00
IUUC-Nle-069064 Nomascus leucogenys 99.19 0.00e+00 6285.00
IUUC-Opr-071043 Ochotona princeps 88.02 0.00e+00 4391.00
IUUC-Ont-072556 Oreochromis niloticus 70.21 0.00e+00 1135.00
IUUC-Oan-073324 Ornithorhynchus anatinus 78.13 0.00e+00 2159.00
IUUC-Ocu-074190 Oryctolagus cuniculus 93.02 0.00e+00 5882.00
IUUC-Oba-075647 Oryza barthii 49.36 3.00e-38 154.00
IUUC-Olo-080577 Oryza longistaminata 47.71 1.00e-35 145.00
IUUC-Ome-081214 Oryza meridionalis 49.36 3.00e-38 154.00
IUUC-Oni-083000 Oryza nivara 49.36 3.00e-38 154.00
IUUC-Opu-083842 Oryza punctata 49.36 3.00e-38 154.00
IUUC-Oru-084361 Oryza rufipogon 49.36 3.00e-38 154.00
IUUC-Oga-088208 Otolemur garnettii 94.86 0.00e+00 5951.00
IUUC-Oar-090152 Ovis aries 94.33 0.00e+00 6064.00
IUUC-Ptr-091127 Pan troglodytes 99.77 0.00e+00 6263.00
IUUC-Pan-092679 Papio anubis 98.99 0.00e+00 5004.00
IUUC-Psi-094059 Pelodiscus sinensis 80.07 0.00e+00 5022.00
IUUC-Pma-094258 Petromyzon marinus 60.30 0.00e+00 682.00
IUUC-Pfo-096536 Poecilia formosa 68.99 0.00e+00 1123.00
IUUC-Pab-098262 Pongo abelii 99.33 0.00e+00 6315.00
IUUC-Pca-100358 Procavia capensis 89.73 0.00e+00 5492.00
IUUC-Pva-102522 Pteropus vampyrus 89.35 0.00e+00 4762.00
IUUC-Rno-105200 Rattus norvegicus 89.43 0.00e+00 4042.00
IUUC-Sha-107174 Sarcophilus harrisii 86.29 0.00e+00 5403.00
IUUC-Smo-109164 Selaginella moellendorffii 51.95 1.00e-40 162.00
IUUC-Sly-111176 Solanum lycopersicum 48.37 6.00e-36 146.00
IUUC-Stu-112529 Solanum tuberosum 48.37 2.00e-38 154.00
IUUC-Sar-113503 Sorex araneus 82.96 0.00e+00 3117.00
IUUC-Sbi-114254 Sorghum bicolor 26.92 1.00e-10 62.40
IUUC-Tgu-117047 Taeniopygia guttata 79.17 0.00e+00 4948.00
IUUC-Tsy-118953 Tarsius syrichta 89.55 0.00e+00 3114.00
IUUC-Tni-120837 Tetraodon nigroviridis 66.23 0.00e+00 1142.00
IUUC-Tbe-127950 Tupaia belangeri 87.76 0.00e+00 2848.00
IUUC-Ttr-128643 Tursiops truncatus 93.26 0.00e+00 5842.00
IUUC-Vpa-130660 Vicugna pacos 90.99 0.00e+00 2028.00
IUUC-Vvi-131476 Vitis vinifera 46.75 3.00e-39 157.00
IUUC-Xtr-132869 Xenopus tropicalis 62.29 0.00e+00 2300.00
Created Date 25-Jun-2017

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