Property Summary

NCBI Gene PubMed Count 51
PubMed Score 68.73
PubTator Score 52.55

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
Rheumatoid Arthritis 2.600 1.4e-04
astrocytic glioma 2.100 6.7e-03
oligodendroglioma 2.100 5.6e-03
osteosarcoma 2.747 5.7e-09
medulloblastoma 1.100 9.6e-06
glioblastoma 1.100 2.1e-04
medulloblastoma, large-cell -1.100 3.3e-05
primitive neuroectodermal tumor 1.300 1.8e-03
Amyotrophic Lateral Sclerosis 1.051 3.4e-06
acute quadriplegic myopathy 1.399 4.7e-06
adrenocortical carcinoma 1.147 2.1e-04
intraductal papillary-mucinous adenoma (... 1.100 1.0e-03
psoriasis -1.100 1.1e-10
spina bifida -1.195 4.6e-02
Pick disease 2.000 3.6e-05
ovarian cancer -1.300 5.1e-05

Protein-protein Interaction (9)

Gene RIF (28)

PMID Text
26886794 a minimized human RBBP5-ASH2L heterodimer is the structural unit that interacts with and activates all MLL family histone methyltransferases
26880370 inactivation of MLL3 and TET2 may play an important role in the tumorigenesis process of HTLV-I-induced acute adult T-cell leukemia.
26324722 solution structures of the MLL3 core complex assembled with and without WDR5 by small angle x-ray scattering show similar overall topologies
26180087 We propose that MLL3 and MLL4 are broadly required for controlling MAFA and MAFB transactivation during development and postnatally.
25273170 Taken together, our study suggested that downregulation of MLL3 was very important in the progression of ESCC
25222251 MLL3 expression plays a vital role in gastric cancer development, and that this protein is an important marker for the prognosis of gastric cancer.
24965397 concluded that this novel missense (S3660L) mutation in MLL3 gene is likely to increase the gastric cancer risk
24211404 Label-free quantitative comparison of DN urinary exosomes vs control group and SRM further validation, resulted in the discovery of a panel of three proteins (AMBP, MLL3 and VDAC1) which changes in DN.
24081332 MLL3 and MLL4 function in the regulation of enhancer activity.
23991983 Mll3 genetic variantsare associated with gastric cancer.
23429989 Germ line mutation of MLL3 was found in a pedigee having colorectal cancer and acute myeloid leukemia.
23259788 frameshift mutations of MLL genes and loss of expression of MLL3 protein are common in gastric and colorectal cancers with MSI-H.
23129768 the second PHD finger (PHD2) of MLL1 is an E3 ubiquitin ligase in the presence of the E2-conjugating enzyme CDC34. This activity is conserved in the second PHD finger of MLL4, the closest homolog to MLL1 but not in MLL2 or MLL3.
22183980 No somatic mutations were identified in the PTCH1, MLL2, and MLL3 genes in our cohort of hepatoblastoma samples
22034226 p53-dependent histone 3-lysine-4-trimethylation of small heterodimer partner requires MLL3
21853109 Frameshift mutations of MLL3 in both colorectal cancer cells and primary tumor that were more common in cases with microsatellite instability.
21683083 These studies demonstrated that HOXC6 is an estrogen-responsive gene, and that histone methylases MLL2 and MLL3, in coordination with ERalpha and ERbeta, transcriptionally regulate HOXC6 in an estrogen-dependent manner.
21447625 The trimethylation of histone H3 at Lys 4 by the MLL2/MLL3 subunits of ASCOM, enhanced by the hormone-induced displacement of the H3K4 demethylase KDM5B, stabilizes NURF binding.
21116761 sequenced all 59 exons of MLL3 (14.7 Kb coding sequence) in 38 breast cancers from Chinese women, and found three somatic mutations in two of the cases, including one frameshift mutation (c.2687 ins A)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20600896 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19556342 ASCOM-MLL3 and ASCOM-MLL4 play redundant but essential roles in FXR transactivation via their histone 3 lysine 4 trimethylation activity.
19240061 Observational study of gene-disease association. (HuGE Navigator)
19221051 Study show that the C-terminal SET domain of MLL3 and MLL4 directly interacts with INI1, an integral subunit of Swi/Snf.
19215798 analysis identified 1 somatic mutation of MLL3 among 57 colon tumors (1.8%), encoding a heterozygous missense mutation, S3449F; study identified also several novel non-synonymous germline variants of MLL3, likely representing previously unidentified SNPs
17614854 There were no MLL3 mutations in Korean patients with colorectal carcinomas.
17500065 PTIP and PA1 are both components of the MLL3- and MLL4-containing histone H3 K4 methyltransferase complex that also includes ASH2L, RBBP5, WDR5, hDPY-30, NCOA6, and JmjC domain-containing putative histone demethylase UTX.

AA Sequence

MSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMD      1 - 70
GLETTETETIVETEIKEQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCG     71 - 140
EKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDNSNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVS    141 - 210
VSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQMEEPLLVNVDKAVVSG    211 - 280
STERCAFCKHLGATIKCCEEKCTQMYHYPCAAGAGTFQDFSHIFLLCPEHIDQAPERSKEDANCAVCDSP    281 - 350
GDLLDQFFCTTCGQHYHGMCLDIAVTPLKRAGWQCPECKVCQNCKQSGEDSKMLVCDTCDKGYHTFCLQP    351 - 420
VMKSVPTNGWKCKNCRICIECGTRSSSQWHHNCLICDNCYQQQDNLCPFCGKCYHPELQKDMLHCNMCKR    421 - 490
WVHLECDKPTDHELDTQLKEEYICMYCKHLGAEMDRLQPGEEVEIAELTTDYNNEMEVEGPEDQMVFSEQ    491 - 560
AANKDVNGQESTPGIVPDAVQVHTEEQQKSHPSESLDTDSLLIAVSSQHTVNTELEKQISNEVDSEDLKM    561 - 630
SSEVKHICGEDQIEDKMEVTENIEVVTHQITVQQEQLQLLEEPETVVSREESRPPKLVMESVTLPLETLV    631 - 700
SPHEESISLCPEEQLVIERLQGEKEQKENSELSTGLMDSEMTPTIEGCVKDVSYQGGKSIKLSSETESSF    701 - 770
SSSADISKADVSSSPTPSSDLPSHDMLHNYPSALSSSAGNIMPTTYISVTPKIGMGKPAITKRKFSPGRP    771 - 840
RSKQGAWSTHNTVSPPSWSPDISEGREIFKPRQLPGSAIWSIKVGRGSGFPGKRRPRGAGLSGRGGRGRS    841 - 910
KLKSGIGAVVLPGVSTADISSNKDDEENSMHNTVVLFSSSDKFTLNQDMCVVCGSFGQGAEGRLLACSQC    911 - 980
GQCYHPYCVSIKITKVVLSKGWRCLECTVCEACGKATDPGRLLLCDDCDISYHTYCLDPPLQTVPKGGWK    981 - 1050
CKWCVWCRHCGATSAGLRCEWQNNYTQCAPCASLSSCPVCYRNYREEDLILQCRQCDRWMHAVCQNLNTE   1051 - 1120
EEVENVADIGFDCSMCRPYMPASNVPSSDCCESSLVAQIVTKVKELDPPKTYTQDGVCLTESGMTQLQSL   1121 - 1190
TVTVPRRKRSKPKLKLKIINQNSVAVLQTPPDIQSEHSRDGEMDDSREGELMDCDGKSESSPEREAVDDE   1191 - 1260
TKGVEGTDGVKKRKRKPYRPGIGGFMVRQRSRTGQGKTKRSVIRKDSSGSISEQLPCRDDGWSEQLPDTL   1261 - 1330
VDESVSVTESTEKIKKRYRKRKNKLEETFPAYLQEAFFGKDLLDTSRQSKISLDNLSEDGAQLLYKTNMN   1331 - 1400
TGFLDPSLDPLLSSSSAPTKSGTHGPADDPLADISEVLNTDDDILGIISDDLAKSVDHSDIGPVTDDPSS   1401 - 1470
LPQPNVNQSSRPLSEEQLDGILSPELDKMVTDGAILGKLYKIPELGGKDVEDLFTAVLSPANTQPTPLPQ   1471 - 1540
PPPPTQLLPIHNQDAFSRMPLMNGLIGSSPHLPHNSLPPGSGLGTFSAIAQSSYPDARDKNSAFNPMASD   1541 - 1610
PNNSWTSSAPTVEGENDTMSNAQRSTLKWEKEEALGEMATVAPVLYTNINFPNLKEEFPDWTTRVKQIAK   1611 - 1680
LWRKASSQERAPYVQKARDNRAALRINKVQMSNDSMKRQQQQDSIDPSSRIDSELFKDPLKQRESEHEQE   1681 - 1750
WKFRQQMRQKSKQQAKIEATQKLEQVKNEQQQQQQQQFGSQHLLVQSGSDTPSSGIQSPLTPQPGNGNMS   1751 - 1820
PAQSFHKELFTKQPPSTPTSTSSDDVFVKPQAPPPPPAPSRIPIQDSLSQAQTSQPPSPQVFSPGSSNSR   1821 - 1890
PPSPMDPYAKMVGTPRPPPVGHSFSRRNSAAPVENCTPLSSVSRPLQMNETTANRPSPVRDLCSSSTTNN   1891 - 1960
DPYAKPPDTPRPVMTDQFPKSLGLSRSPVVSEQTAKGPIAAGTSDHFTKPSPRADVFQRQRIPDSYARPL   1961 - 2030
LTPAPLDSGPGPFKTPMQPPPSSQDPYGSVSQASRRLSVDPYERPALTPRPIDNFSHNQSNDPYSQPPLT   2031 - 2100
PHPAVNESFAHPSRAFSQPGTISRPTSQDPYSQPPGTPRPVVDSYSQSSGTARSNTDPYSQPPGTPRPTT   2101 - 2170
VDPYSQQPQTPRPSTQTDLFVTPVTNQRHSDPYAHPPGTPRPGISVPYSQPPATPRPRISEGFTRSSMTR   2171 - 2240
PVLMPNQDPFLQAAQNRGPALPGPLVRPPDTCSQTPRPPGPGLSDTFSRVSPSAARDPYDQSPMTPRSQS   2241 - 2310
DSFGTSQTAHDVADQPRPGSEGSFCASSNSPMHSQGQQFSGVSQLPGPVPTSGVTDTQNTVNMAQADTEK   2311 - 2380
LRQRQKLREIILQQQQQKKIAGRQEKGSQDSPAVPHPGPLQHWQPENVNQAFTRPPPPYPGNIRSPVAPP   2381 - 2450
LGPRYAVFPKDQRGPYPPDVASMGMRPHGFRFGFPGGSHGTMPSQERFLVPPQQIQGSGVSPQLRRSVSV   2451 - 2520
DMPRPLNNSQMNNPVGLPQHFSPQSLPVQQHNILGQAYIELRHRAPDGRQRLPFSAPPGSVVEASSNLRH   2521 - 2590
GNFIPRPDFPGPRHTDPMRRPPQGLPNQLPVHPDLEQVPPSQQEQGHSVHSSSMVMRTLNHPLGGEFSEA   2591 - 2660
PLSTSVPSETTSDNLQITTQPSDGLEEKLDSDDPSVKELDVKDLEGVEVKDLDDEDLENLNLDTEDGKVV   2661 - 2730
ELDTLDNLETNDPNLDDLLRSGEFDIIAYTDPELDMGDKKSMFNEELDLPIDDKLDNQCVSVEPKKKEQE   2731 - 2800
NKTLVLSDKHSPQKKSTVTNEVKTEVLSPNSKVESKCETEKNDENKDNVDTPCSQASAHSDLNDGEKTSL   2801 - 2870
HPCDPDLFEKRTNRETAGPSANVIQASTQLPAQDVINSCGITGSTPVLSSLLANEKSDNSDIRPSGSPPP   2871 - 2940
PTLPASPSNHVSSLPPFIAPPGRVLDNAMNSNVTVVSRVNHVFSQGVQVNPGLIPGQSTVNHSLGTGKPA   2941 - 3010
TQTGPQTSQSGTSSMSGPQQLMIPQTLAQQNRERPLLLEEQPLLLQDLLDQERQEQQQQRQMQAMIRQRS   3011 - 3080
EPFFPNIDFDAITDPIMKAKMVALKGINKVMAQNNLGMPPMVMSRFPFMGQVVTGTQNSEGQNLGPQAIP   3081 - 3150
QDGSITHQISRPNPPNFGPGFVNDSQRKQYEEWLQETQQLLQMQQKYLEEQIGAHRKSKKALSAKQRTAK   3151 - 3220
KAGREFPEEDAEQLKHVTEQQSMVQKQLEQIRKQQKEHAELIEDYRIKQQQQCAMAPPTMMPSVQPQPPL   3221 - 3290
IPGATPPTMSQPTFPMVPQQLQHQQHTTVISGHTSPVRMPSLPGWQPNSAPAHLPLNPPRIQPPIAQLPI   3291 - 3360
KTCTPAPGTVSNANPQSGPPPRVEFDDNNPFSESFQERERKERLREQQERQRIQLMQEVDRQRALQQRME   3361 - 3430
MEQHGMVGSEISSSRTSVSQIPFYSSDLPCDFMQPLGPLQQSPQHQQQMGQVLQQQNIQQGSINSPSTQT   3431 - 3500
FMQTNERRQVGPPSFVPDSPSIPVGSPNFSSVKQGHGNLSGTSFQQSPVRPSFTPALPAAPPVANSSLPC   3501 - 3570
GQDSTITHGHSYPGSTQSLIQLYSDIIPEEKGKKKRTRKKKRDDDAESTKAPSTPHSDITAPPTPGISET   3571 - 3640
TSTPAVSTPSELPQQADQESVEPVGPSTPNMAAGQLCTELENKLPNSDFSQATPNQQTYANSEVDKLSME   3641 - 3710
TPAKTEEIKLEKAETESCPGQEEPKLEEQNGSKVEGNAVACPVSSAQSPPHSAGAPAAKGDSGNELLKHL   3711 - 3780
LKNKKSSSLLNQKPEGSICSEDDCTKDNKLVEKQNPAEGLQTLGAQMQGGFGCGNQLPKTDGGSETKKQR   3781 - 3850
SKRTQRTGEKAAPRSKKRKKDEEEKQAMYSSTDTFTHLKQQNNLSNPPTPPASLPPTPPPMACQKMANGF   3851 - 3920
ATTEELAGKAGVLVSHEVTKTLGPKPFQLPFRPQDDLLARALAQGPKTVDVPASLPTPPHNNQEELRIQD   3921 - 3990
HCGDRDTPDSFVPSSSPESVVGVEVSRYPDLSLVKEEPPEPVPSPIIPILPSTAGKSSESRRNDIKTEPG   3991 - 4060
TLYFASPFGPSPNGPRSGLISVAITLHPTAAENISSVVAAFSDLLHVRIPNSYEVSSAPDVPSMGLVSSH   4061 - 4130
RINPGLEYRQHLLLRGPPPGSANPPRLVSSYRLKQPNVPFPPTSNGLSGYKDSSHGIAESAALRPQWCCH   4131 - 4200
CKVVILGSGVRKSFKDLTLLNKDSRESTKRVEKDIVFCSNNCFILYSSTAQAKNSENKESIPSLPQSPMR   4201 - 4270
ETPSKAFHQYSNNISTLDVHCLPQLPEKASPPASPPIAFPPAFEAAQVEAKPDELKVTVKLKPRLRAVHG   4271 - 4340
GFEDCRPLNKKWRGMKWKKWSIHIVIPKGTFKPPCEDEIDEFLKKLGTSLKPDPVPKDYRKCCFCHEEGD   4341 - 4410
GLTDGPARLLNLDLDLWVHLNCALWSTEVYETQAGALINVELALRRGLQMKCVFCHKTGATSGCHRFRCT   4411 - 4480
NIYHFTCAIKAQCMFFKDKTMLCPMHKPKGIHEQELSYFAVFRRVYVQRDEVRQIASIVQRGERDHTFRV   4481 - 4550
GSLIFHTIGQLLPQQMQAFHSPKALFPVGYEASRLYWSTRYANRRCRYLCSIEEKDGRPVFVIRIVEQGH   4551 - 4620
EDLVLSDISPKGVWDKILEPVACVRKKSEMLQLFPAYLKGEDLFGLTVSAVARIAESLPGVEACENYTFR   4621 - 4690
YGRNPLMELPLAVNPTGCARSEPKMSAHVKRFVLRPHTLNSTSTSKSFQSTVTGELNAPYSKQFVHSKSS   4691 - 4760
QYRKMKTEWKSNVYLARSRIQGLGLYAARDIEKHTMVIEYIGTIIRNEVANRKEKLYESQNRGVYMFRMD   4761 - 4830
NDHVIDATLTGGPARYINHSCAPNCVAEVVTFERGHKIIISSSRRIQKGEELCYDYKFDFEDDQHKIPCH   4831 - 4900
CGAVNCRKWMN                                                              4901 - 4911
//

Text Mined References (59)

PMID Year Title
26886794 2016 Structural basis for activity regulation of MLL family methyltransferases.
26880370 2016 Mutation of epigenetic regulators TET2 and MLL3 in patients with HTLV-I-induced acute adult T-cell leukemia.
26324722 2015 Unique Role of the WD-40 Repeat Protein 5 (WDR5) Subunit within the Mixed Lineage Leukemia 3 (MLL3) Histone Methyltransferase Complex.
26180087 2015 MLL3 and MLL4 Methyltransferases Bind to the MAFA and MAFB Transcription Factors to Regulate Islet ?-Cell Function.
25273170 2015 Downregulation of MLL3 in esophageal squamous cell carcinoma is required for the growth and metastasis of cancer cells.
25222251 2014 Association of MLL3 expression with prognosis in gastric cancer.
24965397 A missense mutation (S3660L) in MLL3 gene influences risk of gastric cancer.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24211404 2014 Diabetic nephropathy induces changes in the proteome of human urinary exosomes as revealed by label-free comparative analysis.
24081332 2013 The MLL3/MLL4 branches of the COMPASS family function as major histone H3K4 monomethylases at enhancers.
23991983 2013 Mll3 genetic variants affect risk of gastric cancer in the chinese han population.
23870121 2013 SET1 and p300 act synergistically, through coupled histone modifications, in transcriptional activation by p53.
23429989 2013 Exome sequencing identifies an MLL3 gene germ line mutation in a pedigree of colorectal cancer and acute myeloid leukemia.
23259788 2013 Mutational and expressional analysis of MLL genes in gastric and colorectal cancers with microsatellite instability.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23130995 2013 Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.
23129768 2012 A subset of mixed lineage leukemia proteins has plant homeodomain (PHD)-mediated E3 ligase activity.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22183980 2012 Mutations of PTCH1, MLL2, and MLL3 are not frequent events in hepatoblastoma.
22034226 2011 Requirement for MLL3 in p53 regulation of hepatic expression of small heterodimer partner and bile acid homeostasis.
21853109 2011 Frequent alteration of MLL3 frameshift mutations in microsatellite deficient colorectal cancer.
21683083 2011 HOXC6 Is transcriptionally regulated via coordination of MLL histone methylase and estrogen receptor in an estrogen environment.
21447625 2011 Four enzymes cooperate to displace histone H1 during the first minute of hormonal gene activation.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21116761 2011 Somatic mutations of the mixed-lineage leukemia 3 (MLL3) gene in primary breast cancers.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20600896 2010 Genome-wide association study of vitamin D concentrations in Hispanic Americans: the IRAS family study.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19556342 2009 ASCOM controls farnesoid X receptor transactivation through its associated histone H3 lysine 4 methyltransferase activity.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19221051 2009 Crucial roles for interactions between MLL3/4 and INI1 in nuclear receptor transactivation.
19215798 2009 Low frequency of MLL3 mutations in colorectal carcinoma.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17614854 2007 Absence of MLL3 mutations in colorectal carcinomas of Korean patients.
17500065 2007 PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
17021013 2006 Coactivator as a target gene specificity determinant for histone H3 lysine 4 methyltransferases.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16916647 2006 Substrate and functional diversity of lysine acetylation revealed by a proteomics survey.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15365572 2004 Differential gene expression profiles of radioresistant oesophageal cancer cell lines established by continuous fractionated irradiation.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12676563 2003 BAGE genes generated by juxtacentromeric reshuffling in the Hominidae lineage are under selective pressure.
12482968 2003 Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12461691 2002 New BAGE (B melanoma antigen) genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 have a cancer/testis expression profile.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11891048 2002 MLL3, a new human member of the TRX/MLL gene family, maps to 7q36, a chromosome region frequently deleted in myeloid leukaemia.
11718452 2001 Novel human HALR (MLL3) gene encodes a protein homologous to ALR and to ALL-1 involved in leukemia, and maps to chromosome 7q36 associated with leukemia and developmental defects.
10819331 2000 Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
9847074 1998 Toward a complete human genome sequence.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7895173 1995 BAGE: a new gene encoding an antigen recognized on human melanomas by cytolytic T lymphocytes.