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Aliases for MLLT11 Gene

Aliases for MLLT11 Gene

  • MLLT11, Transcription Factor 7 Cofactor 2 3 5
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila); Translocated To, 11 2 3
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia; Translocated To, 11 2 3
  • ALL1 Fused Gene From Chromosome 1q 2 3
  • AF1Q 3 4
  • Protein AF1q 3

External Ids for MLLT11 Gene

Previous GeneCards Identifiers for MLLT11 Gene

  • GC01P147835
  • GC01P147845
  • GC01P149286
  • GC01P149298
  • GC01P122409

Summaries for MLLT11 Gene

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 (MLLT11, Transcription Factor 7 Cofactor) is a Protein Coding gene. Diseases associated with MLLT11 include Juvenile Myelomonocytic Leukemia and Retinitis Pigmentosa 42.

UniProtKB/Swiss-Prot for MLLT11 Gene

  • Cofactor for the transcription factor TCF7 (PubMed:26079538). Involved in regulation of lymphoid development by driving multipotent hematopoietic progenitor cells towards a T cell fate (PubMed:21715312).

Additional gene information for MLLT11 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLLT11 Gene

Genomics for MLLT11 Gene

GeneHancer (GH) Regulatory Elements for MLLT11 Gene

Promoters and enhancers for MLLT11 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J151054 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.2 1246 9.9 CLOCK YBX1 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 MLLT11 CDC42SE1 SETDB1 PRPF3 ARNT PIP5K1A PI4KB ZNF687 GABPB2 UBE2D3P3
GH01J151986 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 3.9 +936.7 936725 16.2 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARNT ARID4B NEUROD1 SIN3A FEZF1 ENSG00000229021 S100A10 THEM4 S100A11 THEM5 FLG-AS1 MLLT11 LOC105371441
GH01J150602 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.4 -452.8 -452848 4.1 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B DMAP1 YY1 SLC30A9 POLR2B HORMAD1 PRPF3 MCL1 CTSS PLEKHO1 MLLT11 CDC42SE1 MINDY1 ENSG00000253047 ENSG00000276103
GH01J151002 Enhancer 0.4 ENCODE dbSUPER 11.2 -55.1 -55064 0.7 CDC42SE1 CERS2 SEMA6C MLLT11 BNIPL C1orf56 ENSG00000231073 MINDY1 ANXA9
GH01J151047 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 0.4 -9.6 -9598 2.1 HDGF MLX ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B YY1 GLIS2 ZNF143 C1orf56 SEMA6C CTSS MLLT11 BNIPL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MLLT11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MLLT11 gene promoter:
  • E2F
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F-5
  • HSF1 (long)
  • HSF1short
  • ATF-2
  • NF-1

Genomic Locations for MLLT11 Gene

Genomic Locations for MLLT11 Gene
10,740 bases
Plus strand
10,740 bases
Plus strand

Genomic View for MLLT11 Gene

Genes around MLLT11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MLLT11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MLLT11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLLT11 Gene

Proteins for MLLT11 Gene

  • Protein details for MLLT11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein AF1q
    Protein Accession:

    Protein attributes for MLLT11 Gene

    90 amino acids
    Molecular mass:
    10061 Da
    Quaternary structure:
    • Interacts with HSPA8 and LAMP2 isoform A; the interaction may target MLLT11 for degradation via chaperone-mediated autophagy (PubMed:24880125). Interacts with TCF7 (PubMed:26079538).

neXtProt entry for MLLT11 Gene

Post-translational modifications for MLLT11 Gene

  • Ubiquitinated, leading to degradation.
  • Ubiquitination at isoforms=59, isoforms=47, and Lys39
  • Modification sites at PhosphoSitePlus

Other Protein References for MLLT11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MLLT11 Gene

Domains & Families for MLLT11 Gene

Gene Families for MLLT11 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MLLT11 Gene


Suggested Antigen Peptide Sequences for MLLT11 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the MLLT11 family.
  • Belongs to the MLLT11 family.
genes like me logo Genes that share domains with MLLT11: view

Function for MLLT11 Gene

Molecular function for MLLT11 Gene

UniProtKB/Swiss-Prot Function:
Cofactor for the transcription factor TCF7 (PubMed:26079538). Involved in regulation of lymphoid development by driving multipotent hematopoietic progenitor cells towards a T cell fate (PubMed:21715312).

Gene Ontology (GO) - Molecular Function for MLLT11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 26079538
genes like me logo Genes that share ontologies with MLLT11: view
genes like me logo Genes that share phenotypes with MLLT11: view

Human Phenotype Ontology for MLLT11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for MLLT11 Gene

Localization for MLLT11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLLT11 Gene

Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Continuous nuclear export is followed by degradation. {ECO:0000269 PubMed:21715312}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MLLT11 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 3
cytoskeleton 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MLLT11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 18852119
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with MLLT11: view

Pathways & Interactions for MLLT11 Gene

SuperPathways for MLLT11 Gene

No Data Available

Interacting Proteins for MLLT11 Gene

Gene Ontology (GO) - Biological Process for MLLT11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043065 positive regulation of apoptotic process IMP 18852119
GO:0045893 positive regulation of transcription, DNA-templated IDA 18852119
GO:0051901 positive regulation of mitochondrial depolarization IDA 18852119
GO:0090200 positive regulation of release of cytochrome c from mitochondria IDA 18852119
GO:0097190 apoptotic signaling pathway IEA --
genes like me logo Genes that share ontologies with MLLT11: view

No data available for Pathways by source and SIGNOR curated interactions for MLLT11 Gene

Drugs & Compounds for MLLT11 Gene

No Compound Related Data Available

Transcripts for MLLT11 Gene

mRNA/cDNA for MLLT11 Gene

(1) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(554) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MLLT11 Gene

Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MLLT11 Gene

No ASD Table

Relevant External Links for MLLT11 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MLLT11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MLLT11 Gene

Protein differential expression in normal tissues from HIPED for MLLT11 Gene

This gene is overexpressed in Bone (68.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MLLT11 Gene

Protein tissue co-expression partners for MLLT11 Gene

NURSA nuclear receptor signaling pathways regulating expression of MLLT11 Gene:


SOURCE GeneReport for Unigene cluster for MLLT11 Gene:


mRNA Expression by UniProt/SwissProt for MLLT11 Gene:

Tissue specificity: Expressed in myoepithelial cells of normal breast tissue (at protein level) (PubMed:26079538). Highly expressed in thymus (PubMed:7833468). Expressed in colon, small intestine, prostate and ovary. Not detected in peripheral blood lymphocytes and spleen (PubMed:7833468).

Evidence on tissue expression from TISSUES for MLLT11 Gene

  • Nervous system(5)
  • Lung(4.4)
  • Bone marrow(4.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MLLT11 Gene

Germ Layers:
  • mesoderm
  • immune
  • lymphatic
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with MLLT11: view

No data available for mRNA differential expression in normal tissues for MLLT11 Gene

Orthologs for MLLT11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MLLT11 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MLLT11 34 33
  • 100 (n)
(Canis familiaris)
Mammalia MLLT11 34 33
  • 91.85 (n)
(Bos Taurus)
Mammalia MLLT11 34 33
  • 91.85 (n)
(Mus musculus)
Mammalia Mllt11 16 34 33
  • 89.51 (n)
(Rattus norvegicus)
Mammalia Mllt11 33
  • 87.64 (n)
(Monodelphis domestica)
Mammalia MLLT11 34
  • 74 (a)
(Gallus gallus)
Aves MLLT11 34
  • 55 (a)
(Danio rerio)
Actinopterygii mllt11 34
  • 49 (a)
Species where no ortholog for MLLT11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MLLT11 Gene

Gene Tree for MLLT11 (if available)
Gene Tree for MLLT11 (if available)
Evolutionary constrained regions (ECRs) for MLLT11: view image

Paralogs for MLLT11 Gene

(1) SIMAP similar genes for MLLT11 Gene using alignment to 2 proteins:

  • L8E9A9_HUMAN
genes like me logo Genes that share paralogs with MLLT11: view

No data available for Paralogs for MLLT11 Gene

Variants for MLLT11 Gene

Sequence variations from dbSNP and Humsavar for MLLT11 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000561407 -- 151,063,834(+) G/C intron_variant
rs1000745137 -- 151,066,553(+) G/C intron_variant
rs1000895962 -- 151,061,342(+) C/T intron_variant
rs1001036557 -- 151,063,647(+) G/C intron_variant
rs1001518189 -- 151,059,272(+) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MLLT11 Gene

Variant ID Type Subtype PubMed ID
nsv522840 CNV gain 19592680

Variation tolerance for MLLT11 Gene

Residual Variation Intolerance Score: 49.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MLLT11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLLT11 Gene

Disorders for MLLT11 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MLLT11 Gene - From: GTR and DISEASES

Disorder Aliases PubMed IDs
juvenile myelomonocytic leukemia
  • jmml
retinitis pigmentosa 42
  • rp42
- elite association - COSMIC cancer census association via MalaCards


  • Note=A chromosomal aberration involving MLLT11 is found in acute leukemias. Translocation t(1;11)(q21;q23) with KMT2A/MLL1.

Additional Disease Information for MLLT11

genes like me logo Genes that share disorders with MLLT11: view

No data available for Genatlas for MLLT11 Gene

Publications for MLLT11 Gene

  1. A novel gene, AF1q, fused to MLL in t(1;11) (q21;q23), is specifically expressed in leukemic and immature hematopoietic cells. (PMID: 7833468) Tse W … Cohen A (Blood 1995) 2 3 4 22 58
  2. AF1q is a novel TCF7 co-factor which activates CD44 and promotes breast cancer metastasis. (PMID: 26079538) Park J … Tse W (Oncotarget 2015) 3 4 58
  3. Degradation of AF1Q by chaperone-mediated autophagy. (PMID: 24880125) Li P … Ji C (Experimental cell research 2014) 3 4 58
  4. AF1q/MLLT11 regulates the emergence of human prothymocytes through cooperative interaction with the Notch signaling pathway. (PMID: 21715312) Parcelier A … Canque B (Blood 2011) 3 4 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58

Products for MLLT11 Gene

Sources for MLLT11 Gene

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