Version 5.4
Homo sapiens Gene: MLL
Summary
InnateDB Gene IDBG-73725.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MLL
Gene Name myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
Synonyms ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7; MLL1; MLL1A; TET1-MLL; TRX1; WDSTS
Species Homo sapiens
Ensembl Gene ENSG00000118058
Encoded Proteins
IDBP-73735
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
IDBP-244761
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
IDBP-599078
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
IDBP-599211
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
IDBP-602612
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
IDBP-590027
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
IDBP-595356
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
IDBP-598191
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein 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 acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:118436490-118526832
Strand Forward strand
Band q23.3
Transcripts
ENST00000389506 ENSP00000374157
ENST00000392873 ENSP00000376612
ENST00000420751
ENST00000534358 ENSP00000436786
ENST00000531904 ENSP00000432391
ENST00000532204 ENSP00000434618
ENST00000529852 ENSP00000436564
ENST00000527869 ENSP00000432652
ENST00000533790 ENSP00000436700
ENST00000528278
ENST00000534085
ENST00000534678
ENST00000525408
ENST00000527839
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 143 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 143 [view]
Protein-Protein 130 [view]
Protein-DNA 9 [view]
Protein-RNA 0
DNA-DNA 4 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003680 AT DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0042800 histone methyltransferase activity (H3-K4 specific)
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0044212 transcription regulatory region DNA binding
GO:0045322 unmethylated CpG binding
GO:0070577 lysine-acetylated histone binding
Biological Process
GO:0006306 DNA methylation
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006461 protein complex assembly
GO:0006915 apoptotic process
GO:0008285 negative regulation of cell proliferation
GO:0009952 anterior/posterior pattern specification
GO:0032411 positive regulation of transporter activity
GO:0035162 embryonic hemopoiesis
GO:0043984 histone H4-K16 acetylation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051568 histone H3-K4 methylation
GO:0051569 regulation of histone H3-K4 methylation
GO:0080182 histone H3-K4 trimethylation
GO:2001040 positive regulation of cellular response to drug
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0035097 histone methyltransferase complex
GO:0071339 MLL1 complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000002028
View Gene Order
ENSBTAG00000018093
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa00310
Lysine degradation pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL E9PR05 Q9Y6P1
UniProt Splice Variant
Entrez Gene 4297
UniGene Hs.258855 Hs.608080 Hs.618976 Hs.619153 Hs.704510 Hs.717330 Hs.718224 Hs.734355 Hs.734849
RefSeq NM_001197104 NM_005933 XM_006718839 XM_006718840
HUGO HGNC:7132
OMIM 159555
CCDS CCDS31686 CCDS55791
HPRD 01162
IMGT
EMBL AF036405 AP000941 AP001267
GenPept AAC95284
RNA Seq Atlas 4297

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca