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 l... See more...

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
  • Protein AF1q 3 4
  • AF1Q 3 4

External Ids for MLLT11 Gene

Previous GeneCards Identifiers for MLLT11 Gene

  • GC01P147835
  • GC01P147845
  • GC01P149286
  • GC01P149298
  • GC01P151030
  • 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 Leukemia and Type 1 Diabetes Mellitus 18.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
Score
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 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.4 1376 10.1 HNRNPK ZBTB40 ZNF217 EP300 CTCF ZSCAN5C NRF1 TCF12 MYC POLR2G MLLT11 RF00017-343 CDC42SE1 GABPB2 BNIPL CTSK ARNT PRPF3 SETDB1 PI4KB
GH01J151002 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 -51.5 -51542 7.7 EP300 ZBTB40 ZNF217 CTCF NRF1 POLR2G SP1 NCOR1 BCLAF1 PHF8 CERS2 MINDY1 PRUNE1 lnc-CERS2-1 PI4KB PIP5K1A SETDB1 GOLPH3L PRPF3 GABPB2
GH01J151986 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 3.8 +936.7 936725 16.2 ZNF217 CTCF ZSCAN5C TCF12 MYC POLR2G USF1 JUND FOS ZFX ENSG00000229021 S100A10 lnc-S100A11-2 ZNF687 THEM4 PI4KB PIP5K1A S100A11 GABPB2 THEM5
GH01J150602 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.3 -452.8 -452848 4.1 EP300 ZNF217 TCF12 POLR2G JUND TEAD4 FOS ZNF639 POLR2A KDM6A HORMAD1 PRPF3 MCL1 CTSS PLEKHO1 MLLT11 CDC42SE1 MINDY1 ENSG00000253047 ENSG00000276103
GH01J151205 Enhancer 0.3 Ensembl 10.7 +148.0 148043 1.2 ZNF770 ZNF121 PSMD4 TMOD4 LYSMD1 SCNM1 CDC42SE1 MLLT11 ZNF687 ZNF687-AS1 C1orf56 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MLLT11

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

Genomic Locations for MLLT11 Gene

Genomic Locations for MLLT11 Gene
chr1:151,057,758-151,068,497
(GRCh38/hg38)
Size:
10,740 bases
Orientation:
Plus strand
chr1:151,030,234-151,040,973
(GRCh37/hg19)
Size:
10,740 bases
Orientation:
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:
    Q13015-AF1Q_HUMAN
    Recommended name:
    Protein AF1q
    Protein Accession:
    Q13015

    Protein attributes for MLLT11 Gene

    Size:
    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 Lys39, Lys47, and Lys59
  • 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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MLLT11 Gene

GenScript: Design optimal peptide antigens:
  • Protein AF1q (AF1Q_HUMAN)
  • cDNA FLJ31527 fis, clone NT2RI2000344, highly similar to Protein AF1q (Q6FGF7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13015

UniProtKB/Swiss-Prot:

AF1Q_HUMAN :
  • Belongs to the MLLT11 family.
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).

Phenotypes From GWAS Catalog for MLLT11 Gene

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

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

COMPARTMENTS
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 4
cytosol 4
extracellular 3
cytoskeleton 3
mitochondrion 2
plasma membrane 1
endoplasmic reticulum 1
lysosome 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:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with MLLT11: view

Pathways & Interactions for MLLT11 Gene

PathCards logo

SuperPathways for MLLT11 Gene

No Data Available

SIGNOR curated interactions for MLLT11 Gene

Activates:

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 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 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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
MLLT11

Expression for MLLT11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MLLT11

SOURCE GeneReport for Unigene cluster for MLLT11 Gene:

Hs.75823

mRNA Expression by UniProt/SwissProt for MLLT11 Gene:

Q13015-AF1Q_HUMAN
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
Systems:
  • immune
  • lymphatic
Regions:
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia MLLT11 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MLLT11 31 30
  • 91.85 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MLLT11 31 30
  • 91.85 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mllt11 17 31 30
  • 89.51 (n)
rat
(Rattus norvegicus)
Mammalia Mllt11 30
  • 87.64 (n)
oppossum
(Monodelphis domestica)
Mammalia MLLT11 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves MLLT11 31
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mllt11 31
  • 49 (a)
OneToOne
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

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

Paralogs for MLLT11 Gene

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

  • AF1Q_HUMAN
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MLLT11 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
708650 Benign: not provided 151,067,437(+) C/T SYNONYMOUS_VARIANT
722453 Benign: not provided 151,067,323(+) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MLLT11 Gene

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
MLLT11

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

Disorders for MLLT11 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MLLT11 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukemia
  • leukemias
type 1 diabetes mellitus 18
  • diabetes mellitus, insulin-dependent, 18
leukemia, acute myeloid
  • aml
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AF1Q_HUMAN
  • 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 23 54
  2. AF1q is a novel TCF7 co-factor which activates CD44 and promotes breast cancer metastasis. (PMID: 26079538) Park J … Tse W (Oncotarget 2015) 2 3 4 54
  3. Degradation of AF1Q by chaperone-mediated autophagy. (PMID: 24880125) Li P … Ji C (Experimental cell research 2014) 3 4 54
  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 54
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54

Products for MLLT11 Gene

Sources for MLLT11 Gene