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MLL Gene

protein-coding GIFtS: 66

GC11P117812

myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
(Previous name: myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ALL-1 ^¹, ², ³
ALL1 ^³
CXXC7 ^¹, ², ³
EC 2.1.1.43 ^³
FLJ11783 ^²
HRX ^¹, ², ³, ⁵
HTRX ^³
HTRX1 ^¹, ², ⁵
KMT2A ^¹, ², ³
MLL/GAS7 ^²
MLL1A ^¹, ²
TET1-MLL ^²
TRX1 ^¹, ², ³

Descriptions
CDK6/MLL fusion protein ^²
CXXC-type zinc finger protein 7 ^³
Lysine N-methyltransferase 2A ^³
MLL-AF4 der(11) fusion protein ^²
MLL/GAS7 fusion protein ^²
MLL/GMPS fusion protein ^²
Trithorax-like protein ^², ³
Zinc finger protein HRX ^², ³
myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog) ^¹
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) ^²
myeloid/lymphoid or mixed-lineage leukemia protein ^²

External Ids
HGNC: 7132¹
Entrez Gene: 4297²
UniProtKB: Q03164³
Ensembl: ENSG00000118058⁷

Search outside databases for aliases for MLL gene

Previous GC identifers: GC11P120663 GC11P119819 GC11P118341 GC11P117844

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for MLL:

The MLL gene encodes a DNA-binding protein that methylates histone H3 (see MIM 601128) lys4 (H3K4)

and positively regulates expression of target genes, including multiple HOX genes (see MIM

142980). MLL is a frequent target for recurrent translocations in acute leukemias that may be

characterized as acute myeloid leukemia (AML; MIM 601626), acute lymphoblastic leukemia (ALL), or

mixed lineage (biphenotypic) leukemia (MLL). Leukemias with translocations involving MLL possess

unique clinical and biologic characteristics and are often associated with poor prognosis. MLL

rearrangements are found in more than 70% of infant leukemias, whether the immunophenotype is more

consistent with ALL or AML6, but are less frequent in leukemias from older children. MLL

translocations are also found in approximately 10% of AMLs in adults, as well as in

therapy-related leukemias, most often characterized as AML, that develop in patients previously

treated with topoisomerase II inhibitors for other malignancies. More than 50 different MLL fusion

partners have been identified. Leukemogenic MLL translocations encode MLL fusion proteins that

have lost H3K4 methyltransferase activity. A key feature of MLL fusion proteins is their ability

to efficiently transform hematopoietic cells into leukemia stem cells (Krivtsov and Armstrong,

2007 [PubMed 17957188]).[supplied by OMIM]

UniProtKB/Swiss-Prot: HRX_HUMAN, Q03164

Function: Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation

represents a specific tag for epigenetic transcriptional activation. Promotes PPP1R15A-induced

apoptosis

Gene Wiki entry for MLL

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the MLL gene

Entrez Gene cytogenetic band: 11q23 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23

MLL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P117812: (about GC identifiers)

Start:	117,812,415 bp from pter
End:	117,901,146 bp from pter
Size:	88,732 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000011.8 NT_033899.7

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: HRX_HUMAN, Q03164 (See protein sequence)

Recommended Name: Histone-lysine N-methyltransferase HRX

Size: 3969 amino acids; 431764 Da

Subunit: Interacts with SBF1 and PPP1R15A. Component of the MLL complex, at least composed of MLL,

ASH2L, RBBP5, DPY30, WDR5, MEN1, HCFC1 and HCFC2

Subcellular location: Nucleus

Sequence caution: Sequence=AAG26332.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence.

Potential poly-A sequence;

PDB structures from and Proteopedia :

2AGH (3D)

2J2S (3D)

2JYI (3D)

2W5Y (3D)

2W5Z (3D)

3EG6 (3D)

Secondary accessions: Q13743 Q13744 Q14845 Q16364 Q6UBD1 Q9UMA3

Alternative splicing: 2 isoforms: Q03164-1 Q03164-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_005924.2

ENSEMBL proteins:

ENSP00000352262 ENSP00000346516 ENSP00000333556 ENSP00000374157 ENSP00000374158 ENSP00000376612

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (KMT2A / MLL)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	15640349
GO:0035097	histone methyltransferase complex	IEA	--

About this table

Antibodies for MLL:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of MLL
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (KMT2A / MLL), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (MLL)
	Novus Biologicals Antibodies for MLL

Assays for MLL:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q03164

ProtoNet 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: HRX_HUMAN, Q03164

Similarity: Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily

Similarity: Contains 3 A.T hook DNA-binding domains

Similarity: Contains 1 bromo domain

Similarity: Contains 1 CXXC-type zinc finger

Similarity: Contains 3 PHD-type zinc fingers

Similarity: Contains 1 post-SET domain

Similarity: Contains 1 SET domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (MLL)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (MLL)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005933

Applied Biosystems Silencer® siRNAs for MLL

Sigma-Aldrich siRNA and siRNA Panels for MLL

Sigma-Aldrich shRNA for MLL

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_005933
Myc/DDK tagged cDNA clone in CMV expression vector: NM_005933
untagged cDNA clone in CMV expression vector: NM_005933

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_005933

UniProtKB/Swiss-Prot: HRX_HUMAN, Q03164

Function: Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation

represents a specific tag for epigenetic transcriptional activation. Promotes PPP1R15A-induced

apoptosis

Catalytic activity: S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine +

histone N(6)-methyl-L-lysine

Enzyme Number (IUBMB): EC 2.1.1.43

15/18 MGI mutant phenotypes (inferred from 14 alleles) (MGI details for Mll1) (see all 18 ):

behavior/neurological	craniofacial	embryogenesis	growth/size	hearing/vestibular/ear
hematopoietic system	immune system	lethality-prenatal/perinatal	life span-post-weaning/aging	limbs/digits/tail
liver/biliary system	nervous system	no phenotypic analysis	renal/urinary system	reproductive system

5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	transcription factor activity	NAS	10821850
GO:0003702	RNA polymerase II transcription factor activity	TAS	10821850
GO:0008168	methyltransferase activity	IEA	--
GO:0008270	zinc ion binding	IEA	--
GO:0016740	transferase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for MLL

5/69 Interacting proteins for MLL (Q03164¹ ENSP00000374158³) via UniProtKB, MINT, and/or STRING (see all 69 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PPIE	Q9UNP9¹, ENSP00000361918³	EBI-591370, EBI-591818 STRING (score=.87)
MLL	Q03164¹	EBI-591370, EBI-591370
cyp33 cyp33 (xeno)	Q9V3G3¹	EBI-591370, EBI-128445
MAP3K5	ENSP00000351908³	STRING (score=.997)
SET	ENSP00000361777³	STRING (score=.986)

About this table

5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006350	transcription	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--
GO:0006366	transcription from RNA polymerase II promoter	TAS	10821850
GO:0006461	protein complex assembly	IDA	15199122
GO:0006915	apoptosis	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for MLL
10/13 Novoseek chemical compound relationships for MLL gene (see all 13 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
af 10	92.07	37	7662954 (3), 11986236 (3), 12461747 (2), 8896421 (2) (see all 21)
ltg(4)	79.84	2	8176845 (1), 8180386 (1)
bamhi	32.40	4	1465401 (1), 8319201 (1), 8320170 (1), 9331569 (1)
leucine	16.41	5	7662954 (2), 11756182 (1), 11986236 (1), 8950979 (1)
quinone	14.30	1	11170441 (1)
zinc	14.02	6	9158002 (2), 9207083 (1), 1423624 (1), 8921910 (1) (see all 5)
p00001	8.65	4	9264370 (1), 8709635 (1)
tyrosine	6.39	12	18450602 (2), 16076867 (1), 17851551 (1), 18692685 (1) (see all 6)
atp	1.52	2	8896421 (1), 11170441 (1)
oligonucleotide	0.73	5	16703585 (2), 9600980 (1), 9639429 (1)

About this table

5 PharmGKB drug compound relationships for MLL gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
etoposide	CO PD PK GN	12665971 12531808 9529129 9057653
granulocyte colony-stimulating factor	GN	12531808
mercaptopurine	CO PD PK	9529129
methotrexate	CO PD PK	9529129
teniposide	GN	12665971

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (MLL)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (MLL)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005933

Sigma-Aldrich siRNA and siRNA Panels for MLL

Sigma-Aldrich shRNA for MLL

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_005933

REFSEQ mRNAs for MLL gene:

NM_005933.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_005933

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005933
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005933
                                 untagged cDNA clone in CMV expression vector: NM_005933

Additional cDNA sequence:

AB209508.1 AF024540.1 AF231996.1 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 CR609114.1 D14540.1 DQ299936.1

DQ437655.1 FM165195.1 FM165196.1 FM165198.1 FM165199.1 L01986.1 L04284.1 L04731.1

S66432.1 S78570.1 S78571.1

24/35 DOTS entries (see all 35 ):

DT.95106475 DT.454613 DT.92450501 DT.95164330 DT.95106517 DT.320062 DT.95106616 DT.91975357

DT.120717338 DT.40117474 DT.100795447 DT.101967882 DT.120717236 DT.92450482 DT.99953073 DT.100795443

DT.40220176 DT.75116751 DT.120717280 DT.120717382 DT.65285481 DT.92450499 DT.95270386 DT.100795446

24/459 AceView cDNA sequences (see all 459 ):

AI864711 AI742495 T05749 AW300929 AI198998 AA749294 AI393365 AA865117

BU739241 NM_005933 AI085657 AA749021 AW969546 AA361250 AW575768 BQ775744

AW295866 BI333279 BU688624 AW002079 BX537782 AI475830 BE504234 L01986

highest scoring ESTs for MLL:

L04731 AA129067 AA278154 AA283139 AA376666 AA495816 AA693781 AA721418 AA749021 AA865117

Unigene Cluster for MLL:

Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)

Hs.258855 [show with all ESTs]

Unigene Representative Sequence: NM_005933

GeneLoc Exon Structure

5/14 Alternative Splicing Database (ASD) splice patterns (SP) for MLL (see all 14 )

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:

About this scheme

ECgene alternative splicing isoforms for MLL

6 Ensembl transcripts including schematic representations:

ENST00000359313 ENST00000354520 ENST00000328469 ENST00000389506 ENST00000389507 ENST00000392873

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

MLL expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for MLL

¹ / ² / ³

21 probe-sets matching MLL gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
74148_at²^{, 3}	U95-D	1	1.00	1.00	0.46	0.85	AI978929	0.40	0.30	0.35	2
1124_at²^{, 3}	U95-A	1	1.00	1.00	0.51	0.90	L04731	1.00	0.80	0.91	1
63869_at*²^{, 3}	U95-C	1	1.00	1.00	0.74	0.79	AI744482	0.80	0.88	0.84	1
47565_at*²^{, 3}	U95-B	1	1.00	1.00	0.77	1.48	W55861	0.60	0.83	0.73	1
212079_s_at²	U133-A	1	1.00	1.00	--	--	--	--	--	--	--
220546_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_024891	0.20	0.50	0.38	1
216624_s_at²	U133-A	1	1.00	1.00	--	--	--	--	--	--	--
212078_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AA704766	0.40	0.75	0.60	1
212076_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI701430	0.60	0.83	0.73	1
212080_at²^{, 3}	U133-A	1	0.46	1.00	--	--	AV714029	0.60	0.83	0.73	1
226981_at*²^{, 3}	U133-B	1	1.00	1.00	--	--	AW002079	0.40	0.75	0.60	1
212079_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1559856_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
220546_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
216624_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
212078_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
212076_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1565436_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1565034_s_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--
212080_at²	U133Plus2	1	0.46	1.00	--	--	--	--	--	--	--
226981_at*²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.258855
Expression variation in blood from EXPOLDB for MLL
UniProtKB/Swiss-Prot: HRX_HUMAN, Q03164
Tissue specificity: Heart, lung, brain and T- and B-lymphocytes

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for MLL gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	MLL¹	--	myeloid/lymphoid or mixed-lineage leukemia (trithorax more	91.63(n) 95.44(a)	479417 XM_536554.2 XP_536554.2
chimpanzee (Pan troglodytes)	MLL¹	--	myeloid/lymphoid or mixed-lineage leukemia (trithorax more	99.67(n) 99.77(a)	451587 XM_508792.2 XP_508792.2
cow (Bos taurus)	MLL¹	--	myeloid/lymphoid or mixed-lineage leukemia (trithorax more	91.18(n) 94.82(a)	508330 XM_585092.3 XP_585092.3
rat (Rattus norvegicus)	Mll1¹	--	myeloid/lymphoid or mixed-lineage leukemia 1	88.32(n) 91.42(a)	315606 XM_236194.4 XP_236194.4
mouse (Mus musculus)	Mll1^{1, 5}	9 (26.00 cM)⁵	myeloid/lymphoid or mixed-lineage leukemia 1^{1, 5}	88.73(n)¹ 91.41(a)¹	214162¹ NM_001081049.1¹ NP_001074518.1¹ AC061963⁵ AC142113⁵ (see all 17)

About this table Species with no ortholog for MLL

ENSEMBL Gene Tree for MLL

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for MLL gene

MLL4² SETD1B² SETD1A²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/558 NCBI SNPs in MLL are shown (see all 558 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 235)

AB	SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs9332838^1,2	C,F,H	117878887(+)	`TGAACC/GCTCTT`	1	P/R	mis¹ ese³		9	NS EU EA WA	1016
	rs693598^1,2	C,H	117874425(+)	`TTGCCA/CACGAC`	1	Q/P	mis¹ ese³		5	MN EU EA WA	590
--	rs9332837^1,2	C,H	117878781(+)	`AGGGAT/ACTGCA`	1	T/S	mis¹ ese³		5	NS EU EA WA	574
	rs693023^1,2	C,H	117811913(-)	`CGCGGC/TGGCTG`	1	--	ng5¹		5	MN EU EA WA	598
	rs1064911^1,2	H	117848750(+)	`AGCAGC/GAGACC`	1	Q/E	mis¹ ese³		5	MN EU EA WA	600
	rs1784245^1,2	H	117856155(-)	`TAGCTT/GGCTTC`	1	P/Q	mis¹		5	MN EU EA WA	590
	rs2205076^1,2	H	117810566(+)	`CCTTAG/ACAGAG`	1	--	ng5¹		4	EU EA WA	416
	rs1784246^1,2	H	117856122(-)	`TCCATT/GGTAGA`	1	P/Q	mis¹ ese³		5	MN EU EA WA	590
	rs522707^1,2	H	117811196(-)	`GGCGCC/TTCGAG`	1	--	ng5¹		5	MN EU EA WA	602
--	rs9332745^1,2	F	117812526(+)	`gggcgC/Gcccgc`	1	A/G	mis¹ ese³		1	NS	154

About this table

HapMap Linkage Disequilibrium images for MLL (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 159555

UniProtKB/Swiss-Prot: HRX_HUMAN, Q03164

Chromosomal aberrations involving MLL are a cause of acute leukemias. Translocation

t(1;11)(q21;q23) with MLLT11/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; translocation t(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; translocation t(11;19)(q23;p13.3) with ELL; translocation t(11;19)(q23;p13.3) with

MLLT1/ENL; translocation t(11;19)(q23;p23) with GAS7; translocation t(X;11)(q13;q23) with

FOXO4/AFX1. Translocation t(3;11)(q28;q23) with LPP. Translocation t(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, inhibit PPP1R15A-induced apoptosis

A chromosomal aberration involving MLL may be a cause of chronic neutrophilic leukemia.

Translocation t(4;11)(q21;q23) with SEPT11

10/59 Novoseek disease relationships for MLL gene (see all 59 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
leukemogenesis	89.69	50	12941810 (2), 16990610 (2), 16213369 (2), 9594441 (1) (see all 43)
acute leukemia	89.67	181	8443374 (4), 11069023 (3), 8824725 (3), 9447829 (3) (see all 99)
leukemia	88.53	483	12759932 (6), 8389614 (6), 10463613 (5), 9546437 (5) (see all 99)
lymphoblastic leukemia acute	87.23	103	7579356 (2), 10588740 (2), 19229974 (2), 17690691 (2) (see all 77)
acute monocytic leukemia	86.88	23	15897884 (2), 11289145 (2), 9594441 (1), 10731585 (1) (see all 18)
chromosomal aberrations	75.05	44	9436917 (4), 11840285 (2), 11809673 (2), 7658717 (2) (see all 31)
lymphoblastic leukemia acute childhood	73.81	12	9264370 (2), 11397475 (1), 17875318 (1), 16404744 (1) (see all 11)
aml adult	73.75	17	8616778 (3), 10846829 (2), 8656671 (1), 9436917 (1) (see all 9)
leukemia myelomonocytic acute	72.12	7	7948964 (1), 8988051 (1), 9846019 (1), 10086743 (1) (see all 7)
secondary aml	71.98	8	8319201 (2), 9436917 (1), 10803509 (1), 16841962 (1) (see all 7)

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6 PharmGKB disease relationships for MLL gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute	CO PD PK	9529129 9057653
Leukemia, Lymphocytic, Acute, L1	GN	12531808
Leukemia, Myelocytic, Acute	CO PD PK GN	12531808 9529129
Myelodysplastic Syndromes	GN	12665971
Myeloid Metaplasia	GN	12665971
Neoplasms, Second Primary	CO PD PK GN	12531808 9529129

About this table

Genatlas disease: MLL

mixed (myeloid/lymphoid) lineage leukemia,spanning the 11q23 breakpoints in translocations with

1(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 (see also

ABI1,AF1Q,AF10,BALMCR,CREBBP,EEN,ELL,EPS15,HRX,MLLT1,MLLT2,MLLT3,MLLT4,MLLT6,MLLT7,MLLT8,MSF) or

with partial duplication 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: MLL
Human Genome Epidemiology Navigator: MLL (17 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/615 PubMed articles for MLL gene (see all 615 ):

Polymorphisms in the MLL breakpoint cluster region (BCR). (PubMed id 12665971)^{1, 3, 7} Echlin-Bell D.R....Rowley J.D. (2003)
Human LPP gene is fused to MLL in a secondary acute leukemia with a t(3;11) (q28;q23). (PubMed id 11433529)^{1, 3, 4} 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, 3, 4} Mbangkollo D.... Diaz M.O. (1995)
A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15. (PubMed id 12618766)^{1, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} 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, 2, 3} 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, 3, 6} 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, 3, 4} von Bergh A.R.M.... Schuuring E. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 4297	HGNC: 7132	AceView: MLL	Ensembl:ENSG00000118058	euGenes: HUgn4297
ECgene: MLL	H-InvDB: MLL

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for MLL	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/mll/

Licensable Technologies for MLL
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for MLL:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for MLL-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for MLL		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for MLL		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for MLL

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MLL Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for MLL

Summaries
for MLL

Genomic Location
for MLL

Proteins
for MLL

Protein Domains/
Families
for MLL

Gene Function
for MLL

Pathways & Interactions
for MLL

Drugs & Compounds
for MLL

Transcripts
for MLL

Expression
for MLL

Orthologs
for MLL

Paralogs
for MLL

SNPs/Variants
for MLL

Disorders & Mutations
for MLL

Medical News
for MLL

Publications
for MLL

Search for MLL

Genome Databases showing MLL

Other Databases showing MLL

Specialized Databases showing MLL

Licensable Technologies
for MLL

Services
for MLL

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

MLL (Gene Symbol)
ALL-1
ALL1
CXXC7
EC 2.1.1.43
FLJ11783
HRX
HTRX
HTRX1
KMT2A
MLL/GAS7
MLL1A
TET1-MLL
TRX1
CDK6/MLL fusion protein
CXXC-type zinc finger protein 7
Lysine N-methyltransferase 2A
MLL-AF4 der(11) fusion protein
MLL/GAS7 fusion protein
MLL/GMPS fusion protein
Trithorax-like protein
Zinc finger protein HRX
myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
myeloid/lymphoid or mixed-lineage leukemia protein

MLL Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor MLL

Summariesfor MLL

Genomic Locationfor MLL

Proteinsfor MLL

Protein Domains/Familiesfor MLL

Gene Functionfor MLL

Pathways & Interactionsfor MLL

Drugs & Compoundsfor MLL

Transcriptsfor MLL

Expression for MLL

Orthologsfor MLL

Paralogsfor MLL

SNPs/Variantsfor MLL

Disorders & Mutationsfor MLL

Medical Newsfor MLL

Publicationsfor MLL

Search for MLL

Genome Databases showing MLL

Other Databases showing MLL

Specialized Databases showing MLL

Licensable Technologiesfor MLL

Servicesfor MLL

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for MLL

Summaries
for MLL

Genomic Location
for MLL

Proteins
for MLL

Protein Domains/
Families
for MLL

Gene Function
for MLL

Pathways & Interactions
for MLL

Drugs & Compounds
for MLL

Transcripts
for MLL

Expression
for MLL

Orthologs
for MLL

Paralogs
for MLL

SNPs/Variants
for MLL

Disorders & Mutations
for MLL

Medical News
for MLL

Publications
for MLL

Licensable Technologies
for MLL

Services
for MLL