MLL Gene
protein-coding GIFtS: 67
GCID: GC11P118341
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|
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog,...(Previous name: myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila)...)
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Aliases
for MLL gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog,Drosophila)1 2 | | Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax (Drosophila) Homolog)1 | | HRX1 2 3 5 | | MLL/GAS72 | | ALL-11 2 3 | | TET1-MLL2 | | CXXC71 2 3 | | WDSTS2 | | KMT2A1 2 3 | | CDK6/MLL Fusion Protein2 | | TRX11 2 3 | | Histone-Lysine N-Methyltransferase MLL2 | | HTRX11 2 5 | | MLL-AF4 Der(11) Fusion Protein2 | | MLL1A1 2 | | MLL/GAS7 Fusion Protein2 | | Lysine N-Methyltransferase 2A2 3 | | MLL/GMPS Fusion Protein2 | | Trithorax-Like Protein2 3 | | ALL13 | | Zinc Finger Protein HRX2 3 | | HTRX3 | | CXXC-Type Zinc Finger Protein 72 3 | | MLL13 | | EC 2.1.1.433 8 | | |
Export aliases for MLL gene to outside databasesPrevious GC identifers: GC11P120663 GC11P119819 GC11P117844 GC11P117812 GC11P114244 |
Summaries
for MLL gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MLL:
This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during earlydevelopment and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of thesedomains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediateschromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzymeTaspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into differentmultiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes.Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acutemyeloid leukemias. Alternate splicing results in multiple transcript variants.(provided by RefSeq, Oct 2010)
UniProtKB/Swiss-Prot: MLL1_HUMAN, Q03164Function: Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalyticsubunit 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 specificallymediates H3K4me, a specific tag for epigenetic transcriptional activation. Has weak methyltransferase activity byitself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity. Has noactivity 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
Gene Wiki entry for MLL
|
Genomic Views
for MLL gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_033899.8
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MLL gene promoter:
AML1a AP-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for MLL
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLL |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11q23 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23MLL Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P118341: view genomic region
(about GC identifiers)
Start:
|
118,307,205 bp from pter |
End:
|
118,397,539 bp from pter |
Size:
|
90,335 bases |
Orientation:
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plus strand |
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Proteins
for MLL gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MLL1_HUMAN, Q03164 (See
protein sequence)Recommended Name: Histone-lysine N-methyltransferase MLL Size: 3969 amino acids; 431764 Da
Subunit: MLL cleavage product N320 heterodimerizes with MLL cleavage product C180 (via SET and FYRC domains). Componentof some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, HCFC2, WDR5, DPY30 andRBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MEN1, MGA,KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10.Interacts with WDR5; the interaction is direct. Interacts with KAT8/MOF; the interaction is direct. Interacts withSBF1 and PPP1R15A
Subcellular location: Nucleus
Subcellular location: MLL cleavage product N320: Nucleus
Subcellular location: MLL cleavage product C180: Nucleus. Note=Localizes to a diffuse nuclear pattern when notassociated with MLL cleavage product N320
Sequence caution: Sequence=AAA58669.1; Type=Frameshift; Positions=317, 380; Sequence=AAG26332.2; Type=Miscellaneousdiscrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAD92745.1; Type=Frameshift;Positions=1098;
6/18 PDB 3D structures from  and Proteopedia  for MLL (see all 18):2AGH (3D)
2J2S (3D)
2JYI (3D)
2KKF (3D)
2KU7 (3D)
2KYU (3D)
Secondary accessions: Q13743 Q13744 Q14845 Q16364 Q59FF2 Q6UBD1 Q9UD94 Q9UMA3Alternative splicing: 2 isoforms: Q03164-1 Q03164-2 Explore the universe of human proteins at neXtProt for MLL: NX_Q03164
Post-translational modifications:
Proteolytic cleavage by TASP1 generates MLL cleavage product N320 and MLL cleavage product C180, which reassemblethrough a non-covalent association. 2 cleavage sites exist, cleavage site 1 (CS1) and cleavage site 2 (CS2), togenerate MLL cleavage products N320 and C180. CS2 is the major site1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q03164
4 DME Specific Peptides for MLL (Q03164)
MLL Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001184033.1 NP_005924.2
ENSEMBL proteins: ENSP00000436786 ENSP00000432391 ENSP00000374157 ENSP00000434618 ENSP00000436564 ENSP00000432652 ENSP00000436700 ENSP00000376612 ENSP00000346516
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
MLL for ontologies About GeneDecksing
MLL Antibody Products:
Assay Products for MLL: |
Protein
Domains /
Families
for MLL gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MLL for domains About GeneDecksing
5/12 InterPro domains/families (see all 12):Graphical View of Domain Structure for InterPro Entry Q03164ProtoNet protein and cluster: Q03164 5 Blocks protein families: IPB001214 Nuclear protein SET IPB001965 Zn-finger-like IPB002857 Zn-finger IPB003616 SET-related region IPB003888 FY-rich domain
UniProtKB/Swiss-Prot: MLL1_HUMAN, Q03164Domain: the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcriptionfactorsDomain: The SET domain structure is atypical and is not in an optimal position to have methyltransferase activity. Itrequires other components of the MLL1/MLL complex, such as ASH2L or RBBP5, to order the active site and obtain optimalhistone methyltransferase activityDomain: The CXXC-type zinc finger binds bind to nonmethyl-CpG dinucleotidesSimilarity: Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamilySimilarity: Contains 3 A.T hook DNA-binding domainsSimilarity: Contains 1 bromo domainSimilarity: Contains 1 CXXC-type zinc fingerSimilarity: Contains 1 FYR C-terminal domainSimilarity: Contains 1 FYR N-terminal domainSimilarity: Contains 3 PHD-type zinc fingersSimilarity: Contains 1 post-SET domainSimilarity: Contains 1 SET domain |
Function
for MLL gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MLL1_HUMAN, Q03164Function: Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalyticsubunit 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 specificallymediates H3K4me, a specific tag for epigenetic transcriptional activation. Has weak methyltransferase activity byitself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity. Has noactivity 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 apoptosisCatalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +N(6)-methyl-L-lysine-[histone]Enzyme Number (IUBMB): EC 2.1.1.431 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MLL
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MLL
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): MLL (NM_005933) | |  | Sino Biological Human cDNA Clone for MLL | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MLL | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MLL |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLL |
Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12): About this table
MLL for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for MLL:
Animal Models:
Mouse knock-outs for MLL: Mll1tm1.2Erns Mll1tm1.1Brad Mll1tm1Djab Mll1tm1Tok
15/20 MGI mutant phenotypes (inferred from 18 alleles ) (MGI details for Mll1) (see all 20):
MLL for phenotypes About GeneDecksing
|
Pathways & Interactions
for MLL gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Transcription factors in neurogenesis | | | 2 | Senescence and Autophagy | | | 3 | Lysine degradation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for MLL
1  BioSystems Pathway for MLL
1 
Kegg Pathway (Kegg details for MLL):
MLL for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MLL
5/111 Interacting proteins for MLL (Q031641, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 111)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| HIST1H3A | P684311, 3 | EBI-2614650,EBI-1560041 I2D:
score=2 | | HIST1H3B | P684311, 3 | EBI-2614650,EBI-1560041 I2D:
score=2 | | HIST1H3C | P684311, 3 | EBI-2614650,EBI-1560041 I2D:
score=2 | | HIST1H3D | P684311, 3 | EBI-2614650,EBI-1560041 I2D:
score=2 | | HIST1H3E | P684311, 3 | EBI-2614650,EBI-1560041 I2D:
score=2 |
About this table
Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table
MLL for ontologies About GeneDecksing
|
Drugs & Compounds
for MLL gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MLL for compounds About GeneDecksing
 Browse Tocris compounds for MLL
2 HMDB Compounds for MLL About this table
10/30 Novoseek chemical compound relationships for MLL gene (see all 30) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| af 10 |
92.1 |
38 |
7662954 (3), 11986236 (3), 12461747 (2), 8896421 (2) (see all 22) |
| ltg(4) |
79.3 |
2 |
8176845 (1), 8180386 (1) |
| etoposide |
61 |
38 |
19587093 (6), 15528316 (5), 14630694 (4), 11170441 (3) (see all 16) |
| teniposide |
44 |
1 |
9752316 (1) |
| podophyllotoxin |
43.5 |
2 |
8319201 (1), 9789061 (1) |
| bamhi |
31.1 |
4 |
1465401 (1), 8319201 (1), 8320170 (1), 9331569 (1) |
| dipyrone |
25.3 |
2 |
17164354 (2) |
| 5-aza-2'deoxycytidine |
19.6 |
3 |
11167824 (3) |
| probenecid |
15 |
3 |
12203795 (2), 14712291 (1) |
| leucine |
14.5 |
5 |
7662954 (2), 11756182 (1), 11986236 (1), 8950979 (1) |
Search CenterWatch for drugs/clinical trials and news about MLL / MLL1
|
Transcripts
for MLL gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MLL gene (3 alternative transcripts): NM_001197104.1 NM_005933.3 NM_024891.2 Unigene Cluster for MLL: Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) Hs.258855 [show with all ESTs]Unigene Representative Sequence: NM_00119710415 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000534358(uc001pta.3 uc001ptb.3) ENST00000531904(uc001psz.1 uc009zab.1)
ENST00000389506 ENST00000532204 ENST00000529852 ENST00000527869 ENST00000533790(uc001ptd.1)
ENST00000392873 ENST00000420751 ENST00000528278 ENST00000534085 ENST00000534678
ENST00000525408 ENST00000527839 ENST00000354520(uc001pte.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MLL
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MLL
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): MLL (NM_005933) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MLL | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MLL |
Additional cDNA sequence: AB209508.1 AF024540.1 AF232000.1 AF232001.1 AF272370.1 AF272372.1 AF272373.1 AF272377.1 AF272378.1 AF272379.1 AF272380.1 AF272381.1 AF272382.1 AF487906.1 AF512944.1 AK021845.1 AK295635.1 AK303179.1 AY187942.1 AY187943.1 AY187944.1 AY187945.1 BC015388.1 BC039603.1 BC065385.1 BC090876.1 BC127775.1 BX537782.1 D14540.1 FM165196.1 FM165198.1 FM165199.1 JF938535.1 JF938536.1 JN169752.1 L01986.1 L04284.1 L04731.1 S66432.1 S78570.1 S78571.1 24/32 DOTS entries (see all 32): DT.95106475 DT.454613 DT.92450501 DT.95164330 DT.95106517 DT.320062 DT.95106616 DT.100795447 DT.120717338 DT.40117474 DT.92450482 DT.100795443 DT.40220176 DT.75116751 DT.101967882 DT.120717280 DT.120717382 DT.92450499 DT.95270386 DT.100795446 DT.120717238 DT.40117901 DT.75150209 DT.92450505 24/459 AceView cDNA sequences (see all 459): BF969710 AA737636 AW451405 BG779769 CR609114 AW205581 CA396444 AA376666 AI522083 BU631497 BQ049637 AI417753 BU738848 BM714607 BU739241 AA765543 BU681108 BU675755 AL134544 CD621418 M78478 AA009746 AI393365 AA129068
GeneLoc Exon Structure
5/14 Alternative Splicing Database (ASD) splice patterns (SP) for MLL (see all 14) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | · | 17c | ^ | 18a | · | 18b | · | 18c | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | - | | - | | - | | - | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 19 | ^ | 20a | · | 20b | · | 20c | · | 20d | ^ | 21 | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24 | ^ | 25a | · | 25b | · | 25c | ^ | 26 |
|---|
|
| SP1: | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for MLL
|
Expression
for MLL gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MLL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACACTGCACT
About this image
See MLL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MLL
SOURCE GeneReport for Unigene cluster: Hs.258855
UniProtKB/Swiss-Prot: MLL1_HUMAN, Q03164Tissue specificity: Heart, lung, brain and T- and B-lymphocytes
SABiosciences Expression via Pathway-Focused PCR Arrays including MLL: | Neurogenesis in human mouse rat | | Epigenetic Chromatin Modification Enzymes in human mouse rat | | Polycomb & Trithorax Complexes in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MLL
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MLL | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MLL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MLL | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLL |
Orthologs
for MLL gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for MLL gene from 7/21 species (see all 21) About this table
ENSEMBL Gene Tree for MLL (if available)
TreeFam Gene Tree for MLL (if available) |
Paralogs
for MLL gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MLL gene
- MLL22 MLL42 SETD1B2 MLL32 SETD1A2
17 SIMAP similar genes for MLL using alignment to 13 protein entries: MLL1_HUMAN (see all proteins):MLL-MAML2 MLL/AF6 fusion MLL/GAS7 MLL/MAML2 fusion TET1-MLL MLL/CALM fusion
AF-9/MLL fusion ACTN4-MLL MLL/AF4 fusion MLL-TET1 MLL-ACTN4 DKFZp686C08112
MLL/AF10 fusion SUV39H2 PHF11 MLL2 FP13812
MLL for paralogs About GeneDecksing
|
Genomic Variants
for MLL gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MLL (118307205 - 118397539 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for MLL
2 CNVs: 34919 39089
1 Indel: 58496
Human Gene Mutation Database (HGMD): MLL
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MLL |
|
Disorders
/ Diseases
for MLL gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MLL for disorders About GeneDecksing
OMIM gene information: 159555
OMIM disorders: --
UniProtKB/Swiss-Prot: MLL1_HUMAN, Q03164
Defects in MLL are the cause of Wiedemann-Steiner syndrome (WDSTS) [MIM:605130]. A syndrome characterized byhairy elbows (hypertrichosis cubiti), intellectual disability, a distinctive facial appearance, and short stature.Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting andvertically narrow palpebral fissures Note=Chromosomal aberrations involving MLL are a cause of acute leukemias. Translocation t(1;11)(q21;q23) withMLLT11/AF1Q; translocation t(3;11)(p21;q23) with NCKIPSD/AF3p21; translocation t(3,11)(q25,q23) with GMPS;translocation t(4;11)(q21;q23) with AFF1/MLLT2/AF4; insertion ins(5;11)(q31;q13q23) with AFF4/AF5Q31; translocationt(5;11)(q12;q23) with AF5-alpha/CENPK; translocation t(6;11)(q27;q23) with MLLT4/AF6; translocation t(9;11)(p22;q23)with MLLT3/AF9; translocation t(10;11)(p11.2;q23) with ABI1; translocation t(10;11)(p12;q23) with MLLT10/AF10;t(11;15)(q23;q14) with CASC5 and ZFYVE19; translocation t(11;17)(q23;q21) with MLLT6/AF17; translocationt(11;19)(q23;p13.3) with ELL; translocation t(11;19)(q23;p13.3) with MLLT1/ENL; translocation t(11;19)(q23;p23) withGAS7; translocation t(X;11)(q13;q23) with FOXO4/AFX1. Translocation t(3;11)(q28;q23) with LPP. Translocationt(10;11)(q22;q23) with TET1. Translocation t(9;11)(q34;q23) with DAB2IP. Translocation t(4;11)(p12;q23) with FRYL.Fusion proteins MLL-MLLT1, MLL-MLLT3 and MLL-ELL interact with PPP1R15A and, on the contrary to unfused MLL, inhibitPPP1R15A-induced apoptosis Note=A chromosomal aberration involving MLL may be a cause of chronic neutrophilic leukemia. Translocationt(4;11)(q21;q23) with SEPT11
20/70  diseases for MLL (see all 70): About MalaCardsleukemia leukemia, myeloid/lymphoid or mixed-lineage acute myeloid leukemia myeloid leukemia
pre-b-cell acute lymphoblastic leukemia shwachman-diamond syndrome b-cell non-hodgkin lymphoma congenital mesoblastic nephroma
hematopoiesis non-hodgkin lymphoma mesoblastic nephroma dna topoisomerase ii
virus associated hemophagocytic syndrome monocytic leukemia acute monocytic leukemia acute lymphoblastic leukemia
megakaryoblastic leukemia lymphoblastic leukemia acute biphenotypic leukemia ring chromosomes
1 disease from the University of Copenhagen DISEASES database for MLL:Leukemia 10/63 Novoseek disease relationships for MLL gene (see all 63) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| acute leukemia |
89.7 |
192 |
8443374 (4), 11069023 (3), 8824725 (3), 9447829 (3) (see all 99) |
| leukemogenesis |
89.4 |
54 |
12941810 (2), 16990610 (2), 16213369 (2), 9594441 (1) (see all 45) |
| leukemia |
88.7 |
522 |
12759932 (6), 8389614 (6), 10463613 (5), 9546437 (5) (see all 99) |
| acute monocytic leukemia |
87.9 |
26 |
15897884 (2), 20303016 (2), 11289145 (2), 9594441 (1) (see all 20) |
| lymphoblastic leukemia acute |
87.1 |
108 |
7579356 (2), 10588740 (2), 19229974 (2), 17690691 (2) (see all 82) |
| aml adult |
75.7 |
17 |
8616778 (3), 10846829 (2), 8656671 (1), 9436917 (1) (see all 9) |
| chromosomal aberrations |
75 |
49 |
9436917 (4), 11840285 (2), 11809673 (2), 19587093 (2) (see all 34) |
| lymphoblastic leukemia acute childhood |
72.9 |
13 |
9264370 (2), 11397475 (1), 17875318 (1), 16404744 (1) (see all 12) |
| leukemia myelomonocytic acute |
72.8 |
7 |
7948964 (1), 8988051 (1), 9846019 (1), 10086743 (1) (see all 7) |
| aml childhood |
70.8 |
9 |
11733351 (2), 17408461 (1), 15010072 (1), 15217837 (1) (see all 6) |
Genatlas disease: MLL mixed (myeloid/lymphoid) lineage leukemia,spanning the 11q23 breakpoints in translocations with1(p32),1(q21),4(q21),6(q21),6(q27),9(p22),10(p11.2),16(p13),17(q21),17(q25),19(p13), 22(q11),X(q13) and others (seealso ABI1,AF1Q,AF10,BALMCR,CREBBP,EEN,ELL,EPS15,HRX,MLLT1,MLLT2,MLLT3,MLLT4,MLLT6,MLLT7,MLLT8,MSF) or with partialduplication of MLL,also infantile acute myeloblastic leukemia with 11q23 deletion or translocations t(2;11)(p21;q23)or t(11;22)(q23;q13) and loss of heterozygosity and microsatellite instability in childhood acute leukemia
Genetic Association Database (GAD): MLL
Human Genome Epidemiology (HuGE) Navigator: MLL (34 documents)
Export disorders for MLL gene to outside databases
|
Publications
for MLL gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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|
PubMed articles for MLL gene, integrated from 9 sources (see all 789):
(articles sorted by number of sources associating them with MLL) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Human LPP gene is fused to MLL in a secondary acute leukemia with a t(3;11) (q28;q23). (PubMed id 11433529)1, 2, 9 Daheron L.... Roche J. (2001)
- The human MLL gene: nucleotide sequence, homology to the Drosophila trx zinc-finger domain, and alternative splicing. (PubMed id 7598802)1, 2, 9 Mbangkollo D.... Diaz M.O. (1995)
- Proteolytic cleavage of MLL generates a complex of N- and C-terminal fragments that confers protein stability and subnuclear localization. (PubMed id 12482972)1, 2, 9 Hsieh J.J....Korsmeyer S.J. (2003)
- A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15. (PubMed id 12618766)1, 2, 9 Chinwalla V....Rowley J.D. (2003)
- AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23). (PubMed id 10588740)1, 2, 9 Taki T.... Hayashi Y. (1999)
- ABI-1, a human homolog to mouse Abl-interactor 1, fuses the MLL gene in acute myeloid leukemia with t(10;11)(p11.2;q23). (PubMed id 9694699)1, 2, 9 Taki T.... Hayashi Y. (1998)
- Exon/intron structure of the human ALL-1 (MLL) gene involved in translocations to chromosomal region 11q23 and acute leukaemias. (PubMed id 8703835)1, 2, 9 Nilson I....Marschalek R. (1996)
- Identification of a gene, MLL, that spans the breakpoint in 11q23 translocations associated with human leukemias. (PubMed id 1720549)1, 3, 9 Ziemin-van der Poel S....Rowley J.D. (1991)
- Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype. (PubMed id 16076867)1, 4, 9 Schnittger S....Falini B. (2005)
- Identification of a novel RAS GTPase-activating protein (RASGAP) gene at 9q34 as an MLL fusion partner in a patient with de novo acute myeloid leukemia. (PubMed id 14978793)1, 2, 9 von Bergh A.R.M.... Schuuring E. (2004)
|
External Searches for MLL gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing MLL gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
|
Other Databases showing MLL gene
(According to HUGE)
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| -- |
Specialized Databases showing MLL gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
About This Section
| Patent Information for MLL gene:
Search GeneIP for patents involving MLL
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MLL gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for MLL | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MLL | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MLL | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MLL | | OriGene 3'-UTR Clone for MLL | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MLL | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MLL | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for MLL | | OriGene Custom Protein Services for MLL | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MLL | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MLL | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLL | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MLL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MLL | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MLL |
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| | | | Search Tocris compounds for MLL |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLL |
|  |  |  | | | | ThermoFisher Antibodies for MLL |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MLL |
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