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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-046567
Ensembl Protein ID ENSP00000301067.7
UniProt Accession O14686; O14687; KMT2D_HUMAN
Genbank Protein ID AAC51734.1; AAC51735.1; ENSP00000301067
Protein Name Histone-lysine N-methyltransferase 2D; ALL1-related protein; Myeloid/lymphoid or mixed-lineage leukemia protein 2
Genbank Nucleotide ID AF010403; AF010404; AC011603
Gene Name KMT2D; ALR; MLL2; MLL4
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000167548.14 ENST00000301067.11 ENSP00000301067.7
ENSG00000167548.14 ENST00000526209.1 ENSP00000435714.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsiteCircNetmiRTarBase
microRNATRANSFACTargetScanRepTar
SomamiRmiRcodeRAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Variation
ClinVarGWASdbOMIM
Drug and target
GRAC
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPhospho.ELMUniProtBioGRID
mUbiSiDa
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
E3 activity/RING/PHD 1.40e-27 97.3 1506 1557
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 activity/RING/PHD
   S: 3    vClvCgeggedekslveCekCrewfHpaClklsveeelpnsek..wiCpkCr 52
            C++C++++ +e+ l++C++C++w+H++C +l  e+++++  +  + C +C+
   Q: 1506 TCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTEDDVEQAADegFDCVSCQ 1557
           6*******************************9888887776677******7 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.
 Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.
Protein Sequence
(Fasta)
MDSQKLAGED KDSEPAADGP AASEDPSATE SDLPNPHVGE VSVLSSGSPR LQETPQDCSG 60
GPVRRCALCN CGEPSLHGQR ELRRFELPFD WPRCPVVSPG GSPGPNEAVL PSEDLSQIGF 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046567|E3,PHD|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
GGGGGGAGGG TGGCCACTCC GACCTGGATT TACCGTTCTT GGCCCCCCTA AGCCCCCCCG 60
TGCGGGGGGC GGCTGTGATC GCTCTGGCGG TTGGAGGTCG GGGAGCGGCC CGGGCTCTGG 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046567|E3,PHD|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0007--Acetylation
KW-0025--Alternative splicing
KW-0156--Chromatin regulator
KW-0175--Coiled coil
KW-0181--Complete proteome
KW-0225--Disease mutation
KW-1017--Isopeptide bond
KW-0991--Mental retardation
KW-0479--Metal-binding
KW-0488--Methylation
KW-0489--Methyltransferase
KW-0539--Nucleus
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0677--Repeat
KW-0949--S-adenosyl-L-methionine
KW-0804--Transcription
KW-0805--Transcription regulation
KW-0808--Transferase
KW-0832--Ubl conjugation
KW-0862--Zinc
KW-0863--Zinc-finger
Interpro

IPR034732--EPHD
IPR003889--FYrich_C
IPR003888--FYrich_N
IPR009071--HMG_box_dom
IPR003616--Post-SET_dom
IPR001214--SET_dom
IPR011011--Znf_FYVE_PHD
IPR001965--Znf_PHD
IPR019787--Znf_PHD-finger
IPR001841--Znf_RING
IPR013083--Znf_RING/FYVE/PHD
PROSITE

PS51805--EPHD
PS51543--FYRC
PS51542--FYRN
PS50868--POST_SET
PS50280--SET
PS01359--ZF_PHD_1
PS50016--ZF_PHD_2
PS50089--ZF_RING_2
Pfam

PF05965--FYRC
PF05964--FYRN
PF00628--PHD
PF00856--SET
SMART

SM00542--FYRC
SM00541--FYRN
SM00398--HMG
SM00249--PHD
SM00508--PostSET
SM00184--RING
SM00317--SET
Gene Ontology

GO:0035097--C:histone methyltransferase complex
GO:0044666--C:MLL3/4 complex
GO:0005654--C:nucleoplasm
GO:0005634--C:nucleus
GO:0003677--F:DNA binding
GO:0042800--F:histone methyltransferase activity (H3-K4 specific)
GO:0018024--F:histone-lysine N-methyltransferase activity
GO:0044212--F:transcription regulatory region DNA binding
GO:0008270--F:zinc ion binding
GO:1904837--P:beta-catenin-TCF complex assembly
GO:0006342--P:chromatin silencing
GO:0051568--P:histone H3-K4 methylation
GO:0001555--P:oocyte growth
GO:0048477--P:oogenesis
GO:0008284--P:positive regulation of cell proliferation
GO:0033148--P:positive regulation of intracellular estrogen receptor signaling pathway
GO:0045944--P:positive regulation of transcription from RNA polymerase II promoter
GO:0006355--P:regulation of transcription, DNA-templated
GO:0043627--P:response to estrogen
GO:0006351--P:transcription, DNA-templated
KEGG hsa:8085
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001806 Ailuropoda melanoleuca 94.41 0.00e+00 3749.00
IUUC-Aca-005364 Anolis carolinensis 53.16 0.00e+00 1239.00
IUUC-Ame-010612 Astyanax mexicanus 81.17 0.00e+00 1014.00
IUUC-Bta-013011 Bos taurus 92.66 0.00e+00 3658.00
IUUC-Cja-019841 Callithrix jacchus 96.60 0.00e+00 4013.00
IUUC-Cfa-021131 Canis familiaris 93.72 0.00e+00 3758.00
IUUC-Cpo-021957 Cavia porcellus 90.64 0.00e+00 3843.00
IUUC-Csa-023722 Chlorocebus sabaeus 97.66 0.00e+00 3873.00
IUUC-Dno-029932 Dasypus novemcinctus 85.65 0.00e+00 2258.00
IUUC-Dor-030192 Dipodomys ordii 87.20 0.00e+00 1731.00
IUUC-Ete-032572 Echinops telfairi 87.64 0.00e+00 2021.00
IUUC-Eca-034166 Equus caballus 93.07 0.00e+00 754.00
IUUC-Eeu-034848 Erinaceus europaeus 92.58 0.00e+00 1335.00
IUUC-Fca-035424 Felis catus 93.90 0.00e+00 3774.00
IUUC-Fal-037179 Ficedula albicollis 66.31 0.00e+00 1169.00
IUUC-Gmo-038719 Gadus morhua 82.21 0.00e+00 912.00
IUUC-Gga-040815 Gallus gallus 58.66 0.00e+00 1913.00
IUUC-Gac-042436 Gasterosteus aculeatus 79.86 0.00e+00 998.00
IUUC-Ggo-044711 Gorilla gorilla 99.53 0.00e+00 3910.00
IUUC-Itr-048510 Ictidomys tridecemlineatus 92.68 0.00e+00 3740.00
IUUC-Loc-051979 Lepisosteus oculatus 82.81 0.00e+00 1062.00
IUUC-Laf-054377 Loxodonta africana 91.95 0.00e+00 3692.00
IUUC-Mcc-055577 Macaca mulatta 96.68 0.00e+00 3828.00
IUUC-Meu-055992 Macropus eugenii 84.80 0.00e+00 1323.00
IUUC-Mmr-061772 Microcebus murinus 91.09 0.00e+00 3748.00
IUUC-Mdo-062876 Monodelphis domestica 83.80 0.00e+00 1145.00
IUUC-Mmu-063903 Mus musculus 87.58 0.00e+00 3583.00
IUUC-Mpu-066700 Mustela putorius furo 93.31 0.00e+00 3717.00
IUUC-Mlu-068180 Myotis lucifugus 93.15 0.00e+00 3803.00
IUUC-Nle-069362 Nomascus leucogenys 98.31 0.00e+00 3895.00
IUUC-Opr-070304 Ochotona princeps 88.52 0.00e+00 3464.00
IUUC-Ont-071881 Oreochromis niloticus 64.97 0.00e+00 1411.00
IUUC-Ocu-074053 Oryctolagus cuniculus 88.78 0.00e+00 3746.00
IUUC-Ola-086384 Oryzias latipes 59.48 0.00e+00 1342.00
IUUC-Oga-088450 Otolemur garnettii 93.04 0.00e+00 3925.00
IUUC-Oar-089975 Ovis aries 93.91 0.00e+00 2044.00
IUUC-Ptr-091073 Pan troglodytes 98.73 0.00e+00 3919.00
IUUC-Pan-092871 Papio anubis 94.42 0.00e+00 3982.00
IUUC-Pfo-097525 Poecilia formosa 80.11 0.00e+00 984.00
IUUC-Pab-097679 Pongo abelii 99.13 0.00e+00 3957.00
IUUC-Pca-100499 Procavia capensis 88.13 0.00e+00 2291.00
IUUC-Pva-102898 Pteropus vampyrus 93.79 0.00e+00 3654.00
IUUC-Rno-105660 Rattus norvegicus 88.86 0.00e+00 3595.00
IUUC-Sha-107431 Sarcophilus harrisii 82.02 0.00e+00 3114.00
IUUC-Sbi-113816 Sorghum bicolor 33.71 3.00e-13 71.20
IUUC-Ssc-115678 Sus scrofa 93.18 0.00e+00 3593.00
IUUC-Tru-117922 Takifugu rubripes 80.39 0.00e+00 1013.00
IUUC-Tsy-118905 Tarsius syrichta 89.32 0.00e+00 1689.00
IUUC-Tbe-127625 Tupaia belangeri 86.83 5.00e-158 554.00
IUUC-Ttr-129162 Tursiops truncatus 91.90 0.00e+00 2132.00
IUUC-Xtr-132455 Xenopus tropicalis 64.64 0.00e+00 1318.00
Created Date 25-Jun-2017

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