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Basic Information Integrated Annotations
Tag Content
UUCD2 ID IUUC-Hsa-046595
UUCD1 version UUC-HoS-00808
Ensembl Protein ID ENSP00000262189.6
UniProt Accession Q8NEZ4; Q8NC02; Q8NDF6; Q9H9P4; Q9NR13; Q9P222; Q9UDR7; KMT2C_HUMAN
Genbank Protein ID AAK00583.1; AAF74766.2; AAD45822.1; BAA96030.2; BAC11409.1; CAD38780.1
Protein Name Histone-lysine N-methyltransferase 2C; Homologous to ALR protein; Myeloid/lymphoid or mixed-lineage leukemia protein 3
Genbank Nucleotide ID AY024361; AF264750; AC006017; AC104692; AK022687; AL833924
Gene Name KMT2C; HALR; KIAA1506; MLL3
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000055609.17 ENST00000360104.7 ENSP00000353218.3
ENSG00000055609.17 ENST00000262189.10 ENSP00000262189.6
ENSG00000055609.17 ENST00000424877.5 ENSP00000410411.1
ENSG00000055609.17 ENST00000418061.1 ENSP00000408001.1
ENSG00000055609.17 ENST00000558665.1 ENSP00000454058.1
ENSG00000055609.17 ENST00000418673.1 ENSP00000403483.1
ENSG00000055609.17 ENST00000452749.1 ENSP00000410239.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICHPM
DNA & RNA Element
UTRdbAREsiteCircNetmiRTarBase
microRNATRANSFACTargetScanRepTar
miRNAMapSomamiRmiRcodeRAID2
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
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
E3 activity/RING/PHD 3.00e-29 102.6 1086 1137
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 activity/RING/PHD
   S: 3    vClvCgeggedekslveCekCrewfHpaClklsveeelpnsek..wiCpkCr 52
           +C+vC +++++e+ +++C++C++w+H+ C +l+ eee++n  +  + C+ Cr
   Q: 1086 SCPVCYRNYREEDLILQCRQCDRWMHAVCQNLNTEEEVENVADigFDCSMCR 1137
           6********************************999999998899******8 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder.
 Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder.
Protein Sequence
(Fasta)
MSSEEDKSVE QPQPPPPPPE EPGAPAPSPA AADKRPRGRP RKDGASPFQR ARKKPRSRGK 60
TAVEDEDSMD GLETTETETI VETEIKEQSA EEDAEAEVDN SKQLIPTLQR SVSEESANSL 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046595|E3,PHD|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
GAGGTGCGCG CGCCCGCGCC GATGTGTGTG AGTGCGTGTC CTGCTCGCTC CATGTTGCCG 60
CCTCTCCCGG TACCTGCTGC TGCTCCCGGG GCTGCGGGAA ATGCGAGAGG CTGAGCCGGG 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046595|E3,PHD|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0007--Acetylation
KW-0010--Activator
KW-0012--Acyltransferase
KW-0025--Alternative splicing
KW-0156--Chromatin regulator
KW-0175--Coiled coil
KW-0181--Complete proteome
KW-0238--DNA-binding
KW-0449--Lipoprotein
KW-0479--Metal-binding
KW-0488--Methylation
KW-0489--Methyltransferase
KW-0539--Nucleus
KW-0564--Palmitate
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-0862--Zinc
KW-0863--Zinc-finger
Interpro

IPR034732--EPHD
IPR003889--FYrich_C
IPR003888--FYrich_N
IPR009071--HMG_box_dom
IPR000637--HMGI/Y_DNA-bd_CS
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

PS50216--DHHC
PS51805--EPHD
PS51543--FYRC
PS51542--FYRN
PS00354--HMGI_Y
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:0003723--F:RNA binding
GO:0016746--F:transferase activity, transferring acyl groups
GO:0008270--F:zinc ion binding
GO:0006355--P:regulation of transcription, DNA-templated
GO:0006351--P:transcription, DNA-templated
KEGG hsa:58508
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-002314 Ailuropoda melanoleuca 88.07 0.00e+00 7349.00
IUUC-Apl-003311 Anas platyrhynchos 73.39 0.00e+00 5845.00
IUUC-Aca-004705 Anolis carolinensis 66.87 0.00e+00 5349.00
IUUC-Bta-012322 Bos taurus 83.65 0.00e+00 6806.00
IUUC-Cel-018354 Caenorhabditis elegans 35.38 1.00e-64 243.00
IUUC-Cja-019983 Callithrix jacchus 95.67 0.00e+00 8227.00
IUUC-Cfa-020903 Canis familiaris 87.52 0.00e+00 7402.00
IUUC-Cpo-021732 Cavia porcellus 83.82 0.00e+00 7044.00
IUUC-Csa-023083 Chlorocebus sabaeus 96.77 0.00e+00 6429.00
IUUC-Cho-024469 Choloepus hoffmanni 83.80 0.00e+00 2331.00
IUUC-Dre-028110 Danio rerio 63.79 0.00e+00 1243.00
IUUC-Dor-030569 Dipodomys ordii 81.19 0.00e+00 4593.00
IUUC-Dme-031590 Drosophila melanogaster 33.20 9.00e-70 259.00
IUUC-Eca-033945 Equus caballus 87.59 0.00e+00 5253.00
IUUC-Fca-035922 Felis catus 85.60 0.00e+00 7059.00
IUUC-Gac-041896 Gasterosteus aculeatus 46.33 0.00e+00 1870.00
IUUC-Ggo-044812 Gorilla gorilla 96.17 0.00e+00 8239.00
IUUC-Itr-048303 Ictidomys tridecemlineatus 87.43 0.00e+00 7214.00
IUUC-Lch-050086 Latimeria chalumnae 57.84 0.00e+00 2724.00
IUUC-Loc-052891 Lepisosteus oculatus 51.62 0.00e+00 2134.00
IUUC-Laf-054348 Loxodonta africana 84.37 0.00e+00 3158.00
IUUC-Mcc-054868 Macaca mulatta 97.22 0.00e+00 8287.00
IUUC-Meu-056322 Macropus eugenii 67.99 0.00e+00 1219.00
IUUC-Mga-059541 Meleagris gallopavo 72.63 0.00e+00 5728.00
IUUC-Mmr-061092 Microcebus murinus 88.93 0.00e+00 5880.00
IUUC-Mdo-062610 Monodelphis domestica 77.01 0.00e+00 2129.00
IUUC-Mmu-063666 Mus musculus 84.96 0.00e+00 7113.00
IUUC-Mpu-066366 Mustela putorius furo 85.09 0.00e+00 6726.00
IUUC-Mlu-068201 Myotis lucifugus 82.56 0.00e+00 4217.00
IUUC-Nle-069232 Nomascus leucogenys 96.76 0.00e+00 6371.00
IUUC-Opr-070625 Ochotona princeps 77.19 0.00e+00 1348.00
IUUC-Ont-072401 Oreochromis niloticus 57.16 0.00e+00 1056.00
IUUC-Oan-072945 Ornithorhynchus anatinus 72.37 0.00e+00 4299.00
IUUC-Ocu-074920 Oryctolagus cuniculus 84.97 0.00e+00 5469.00
IUUC-Ola-086436 Oryzias latipes 44.84 0.00e+00 1852.00
IUUC-Oga-088637 Otolemur garnettii 86.52 0.00e+00 4612.00
IUUC-Oar-089363 Ovis aries 81.81 0.00e+00 6638.00
IUUC-Ptr-091527 Pan troglodytes 99.22 0.00e+00 8569.00
IUUC-Pan-092102 Papio anubis 94.77 0.00e+00 7982.00
IUUC-Pma-094252 Petromyzon marinus 45.42 1.00e-164 575.00
IUUC-Pfo-096288 Poecilia formosa 61.27 0.00e+00 1170.00
IUUC-Pab-098241 Pongo abelii 97.73 0.00e+00 5456.00
IUUC-Pca-100103 Procavia capensis 81.06 0.00e+00 1595.00
IUUC-Pva-102238 Pteropus vampyrus 77.90 0.00e+00 2633.00
IUUC-Rno-105395 Rattus norvegicus 75.84 0.00e+00 1115.00
IUUC-Sha-106550 Sarcophilus harrisii 73.57 0.00e+00 4513.00
IUUC-Sar-113183 Sorex araneus 65.67 0.00e+00 682.00
IUUC-Tgu-116677 Taeniopygia guttata 72.37 0.00e+00 5505.00
IUUC-Tru-118037 Takifugu rubripes 54.06 0.00e+00 1280.00
IUUC-Tsy-118932 Tarsius syrichta 90.82 0.00e+00 5578.00
IUUC-Tni-119970 Tetraodon nigroviridis 52.50 0.00e+00 1342.00
IUUC-Ttr-129051 Tursiops truncatus 84.67 0.00e+00 6819.00
IUUC-Vpa-130236 Vicugna pacos 83.48 0.00e+00 1955.00
Created Date 25-Jun-2017

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