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MLLT11 Gene

protein-coding   GIFtS: 49
GCID: GC01P151030

Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog,...

  See MLLT11-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog,
Drosophila); Translocated To, 111 2
AF1Q2 3 5
ALL1 Fused Gene From Chromosome 1q1 2
ALL1-Fused Gene From Chromosome 1q2
Protein AF1q2

External Ids:    HGNC: 169971   Entrez Gene: 109622   Ensembl: ENSG000002131907   OMIM: 6046845   UniProtKB: Q130153   

Export aliases for MLLT11 gene to outside databases

Previous GC identifers: GC01P147835 GC01P147845 GC01P149286 GC01P149298 GC01P122409


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MLLT11 Gene:
The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number
of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene
on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal
portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes
90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In
contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic
cell lines tested. (provided by RefSeq, Jul 2008)

GeneCards Summary for MLLT11 Gene:
MLLT11 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11) is a protein-coding gene. Diseases associated with MLLT11 include acute myelomonocytic leukemia, and mitochondrial dna depletion syndrome 8b.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the MLLT11 gene promoter:
         E2F-3a   E2F-4   NF-1   E2F-5   ATF-2   HSF1 (long)   E2F-2   E2F   E2F-1   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMLLT11 promoter sequence
   Search Chromatin IP Primers for MLLT11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MLLT11


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21

MLLT11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MLLT11 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P151030:  view genomic region     (about GC identifiers)

Start:
151,030,234 bp from pter      End:
151,040,973 bp from pter
Size:
10,740 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AF1Q_HUMAN, Q13015 (See protein sequence)
Recommended Name: Protein AF1q  
Size: 90 amino acids; 10061 Da

Explore the universe of human proteins at neXtProt for MLLT11: NX_Q13015

Explore proteomics data for MLLT11 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys39, Lys47, Lys59
  • Modification sites at PhosphoSitePlus

  • See MLLT11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006809.1  
    ENSEMBL proteins: 
     ENSP00000357917  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026778 MLLT11_fam

    Graphical View of Domain Structure for InterPro Entry Q13015

    ProtoNet protein and cluster: Q13015

    UniProtKB/Swiss-Prot: AF1Q_HUMAN, Q13015
    Similarity: Belongs to the MLLT11 family


    Find genes that share domains with MLLT11           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    Find genes that share ontologies with MLLT11           About GenesLikeMe


    Animal Models:
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    miRNA
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    Block miRNA regulation of human, mouse, rat MLLT11 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MLLT11 (see all 19):
    hsa-miR-3128 hsa-miR-136 hsa-miR-29c hsa-miR-29a hsa-miR-507 hsa-miR-339-5p hsa-miR-10b* hsa-miR-511
    SwitchGear 3'UTR luciferase reporter plasmidMLLT11 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    cytosol1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA18852119

    Find genes that share ontologies with MLLT11           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MLLT11
    Interactions:

        Search GeneGlobe Interaction Network for MLLT11

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for MLLT11 (Q130153 ENSP000003579174) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAMKK2Q96RR43I2D: score=1 
    CLN3Q132863I2D: score=1 
    ADCY10ENSP000003568254STRING: ENSP00000356825
    ENSG00000225589ENSP000004165114STRING: ENSP00000416511
    RER1ENSP000003020884STRING: ENSP00000302088
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043065positive regulation of apoptotic process IMP18852119
    GO:0045893positive regulation of transcription, DNA-templated IDA18852119
    GO:0051901positive regulation of mitochondrial depolarization IDA18852119
    GO:0090200positive regulation of release of cytochrome c from mitochondria IDA18852119
    GO:0097191extrinsic apoptotic signaling pathway IDA18852119

    Find genes that share ontologies with MLLT11           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MLLT11 (AF1Q)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MLLT11 gene: 
    NM_006818.3  

    Unigene Cluster for MLLT11:

    Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11
    Hs.75823  [show with all ESTs]
    Unigene Representative Sequence: BC022448
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000368921(uc001ewq.3)
    miRNA
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    hsa-miR-3128 hsa-miR-136 hsa-miR-29c hsa-miR-29a hsa-miR-507 hsa-miR-339-5p hsa-miR-10b* hsa-miR-511
    SwitchGear 3'UTR luciferase reporter plasmidMLLT11 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat MLLT11

    Additional mRNA sequence: 

    AK056089.1 AK057755.1 BC006471.2 BC007079.1 BC008445.1 BC009624.1 BC019253.1 BC021703.1 
    BC022448.1 BC032996.1 BT006799.1 CR456879.1 CR542150.1 U16954.1 

    21 DOTS entries:

    DT.456205  DT.92455561  DT.100816681  DT.100816676  DT.100816688  DT.206970  DT.100816677  DT.100816680 
    DT.121380265  DT.121380314  DT.91757184  DT.97786331  DT.100672211  DT.100816679  DT.121380278  DT.95157303 
    DT.95157310  DT.95157315  DT.95157318  DT.100818449  DT.121380198 

    Selected AceView cDNA sequences (see all 554):

    BP347849 CR602062 BF939780 CB143140 CB154890 BI549683 N91368 BM907397 
    CR614314 AA570685 Z44286 CB126709 C05168 AA292125 AI288645 CR604855 
    BC007079 AA757365 AA351317 CR542150 AI554137 NM_006818 BX463420 BU790559 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MLLT11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTCCTACT
    MLLT11 Expression
    About this image


    MLLT11 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Thalamus
     
     Eye (Sensory Organs)
             Retina
    MLLT11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MLLT11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75823

    UniProtKB/Swiss-Prot: AF1Q_HUMAN, Q13015
    Tissue specificity: Highly expressed in thymus and all leukemic cell lines

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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MLLT11 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mllt111 , 5 myeloid/lymphoid or mixed-lineage leukemia (trithorax more1, 5 89.51(n)1
    87.64(a)1
      3 (40.74 cM)5
    567721  NM_019914.41  NP_064298.11 
     952191355 
    chicken
    (Gallus gallus)
    Aves MLLT116
    myeloid/lymphoid or mixed-lineage leukemia (tritho...
    55(a)
    1 ↔ 1
    25(1934174-1936824)
    zebrafish
    (Danio rerio)
    Actinopterygii mllt116
    myeloid/lymphoid or mixed-lineage leukemia (tritho...
    49(a)
    1 ↔ 1
    19(8068189-8073199) ENSDARG00000071026


    ENSEMBL Gene Tree for MLLT11 (if available)
    TreeFam Gene Tree for MLLT11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MLLT11 gene
    1 SIMAP similar gene for MLLT11 using alignment to 2 protein entries:     AF1Q_HUMAN (see all proteins):
    AF1Q

    Find genes that share paralogs with MLLT11           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MLLT11 (see all 147)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1172590591,2
    C,F--151034164(+) TTTTGC/TGAAAT 1 -- int11Minor allele frequency- T:0.03EA 120
    rs1406978231,2
    --151034322(+) CATGTC/GTTTCT 1 -- int10--------
    rs1882920671,2
    --151034363(+) TCTGGA/GTCAAT 1 -- int10--------
    rs756994031,2
    C,F--151034398(+) AGTTAA/GTATTT 1 -- int11Minor allele frequency- G:0.04WA 118
    rs1932888181,2
    --151034454(+) AACACC/TCAGGG 1 -- int10--------
    rs741250651,2
    C,F--151034535(+) TTTTTT/CCTCAG 1 -- int14Minor allele frequency- C:0.06WA CSA NA 242
    rs1838328761,2
    --151034615(+) CCACGG/TAAAAT 1 -- int10--------
    rs1876956341,2
    --151034794(+) TAAGAA/TGTCTT 1 -- int10--------
    rs1914593041,2
    --151034795(+) AAGATA/GTCTTC 1 -- int10--------
    rs715803561,2
    C--151034820(+) TATGAT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for MLLT11 (151030234 - 151040973 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MLLT11:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv522840CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MLLT11
    DNA2.0 Custom Variant and Variant Library Synthesis for MLLT11

    (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.)
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    OMIM gene information: 604684    OMIM disorders: --

    UniProtKB/Swiss-Prot: AF1Q_HUMAN, Q13015
  • Note=A chromosomal aberration involving MLLT11 is found in acute leukemias. Translocation
    t(1;11)(q21;q23) with KMT2A/MLL1

  • 4 diseases for MLLT11:    
    About MalaCards
    acute myelomonocytic leukemia    mitochondrial dna depletion syndrome 8b    mitochondrial dna depletion syndrome    leukemia


    Find genes that share disorders with MLLT11           About GenesLikeMe

    2 Novoseek inferred disease relationships for MLLT11 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemogenesis 70.3 2 15217837 (1)
    leukemia 32.1 1 15217837 (1)


    Export disorders for MLLT11 gene to outside databases

    (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 MLLT11 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with MLLT11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene, AF1q, fused to MLL in t(1;11)(q21;q23), is specifically expressed in leukemic and immature hematopoietic cells. (PubMed id 7833468)1, 2, 3, 9 Tse W.... Cohen A. (Blood 1995)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. AF1q, a differentially expressed gene during neuronal differentiation, transforms HEK cells into neuron-like cells. (PubMed id 15530661)1, 9 Lin H.J....Ma W. (Brain Res. Mol. Brain Res. 2004)
    5. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    7. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    8. AF1q: a novel mediator of basal and 4-HPR-induced apoptosis in ovarian cancer cells. (PubMed id 22761939)1 Tiberio P....Appierto V. (PLoS ONE 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10962 HGNC: 16997 AceView: AF1Q Ensembl:ENSG00000213190 euGenes: HUgn10962
    ECgene: MLLT11 H-InvDB: MLLT11

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MLLT11 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MLLT11 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MLLT11 gene:
    Search GeneIP for patents involving MLLT11

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