This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] See more...

Aliases for MLLT10 Gene

Aliases for MLLT10 Gene

  • MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor 2 3 5
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia; Translocated To, 10 2 3
  • ALL1-Fused Gene From Chromosome 10 Protein 3 4
  • Protein AF-10 3 4
  • AF10 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax (Drosophila) Homolog); Translocated To, 10 2
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila); Translocated To, 10 3
  • Type III AF10 Protein 3
  • Type IV AF10 Protein 3
  • Type I AF10 Protein 3

External Ids for MLLT10 Gene

Previous GeneCards Identifiers for MLLT10 Gene

  • GC10P021558
  • GC10P021973
  • GC10P021827
  • GC10P021863
  • GC10P021469
  • GC10P021825
  • GC10P021534

Summaries for MLLT10 Gene

Entrez Gene Summary for MLLT10 Gene

  • This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]

GeneCards Summary for MLLT10 Gene

MLLT10 (MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor) is a Protein Coding gene. Diseases associated with MLLT10 include Leukemia, Acute Myeloid and Precursor T-Cell Acute Lymphoblastic Leukemia. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is MLLT6.

UniProtKB/Swiss-Prot Summary for MLLT10 Gene

  • Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA. In cells, binding to unmodified histone H3 regulates DOT1L functions including histone H3 'Lys-79' dimethylation (H3K79me2) and gene activation (PubMed:26439302).

Gene Wiki entry for MLLT10 Gene

Additional gene information for MLLT10 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MLLT10 Gene

Genomics for MLLT10 Gene

GeneHancer (GH) Regulatory Elements for MLLT10 Gene

Promoters and enhancers for MLLT10 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MLLT10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MLLT10 gene promoter:
  • Arnt
  • c-Ets-1
  • HFH-1
  • Ik-3
  • POU3F1

Genomic Locations for MLLT10 Gene

Genomic Locations for MLLT10 Gene
chr10:21,524,646-21,743,633
(GRCh38/hg38)
Size:
218,988 bases
Orientation:
Plus strand
chr10:21,823,094-22,032,559
(GRCh37/hg19)
Size:
209,466 bases
Orientation:
Plus strand

Genomic View for MLLT10 Gene

Genes around MLLT10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MLLT10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MLLT10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLLT10 Gene

Proteins for MLLT10 Gene

  • Protein details for MLLT10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55197-AF10_HUMAN
    Recommended name:
    Protein AF-10
    Protein Accession:
    P55197
    Secondary Accessions:
    • B1ANA8
    • Q5JT37
    • Q5VX90
    • Q66K63

    Protein attributes for MLLT10 Gene

    Size:
    1068 amino acids
    Molecular mass:
    113320 Da
    Quaternary structure:
    • Self-associates. Interacts with FSTL3 isoform 2; the interaction enhances MLLT10 in vitro transcriptional activity and self-association. Interacts with YEATS4. Interacts with SS18. Interacts with DOT1L; this interaction also occurs with the KMT2A/MLL1 fusion protein. Interacts with histone H3; interaction is necessary for MLLT10 binding to nucleosomes; interaction is inhibited by histone H3 'Lys-27' methylations (H3K27me1, H3K27me2 and H3K27me3) amd acetylation; interaction stabilizes association of MLLT10 at chromatin; interaction is essential for histone H3 'Lys-79' dimethylation (H3K79me2) (PubMed:26439302).
    SequenceCaution:
    • Sequence=BC129946; Type=Frameshift; Positions=235; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MLLT10 Gene

    Alternative splice isoforms for MLLT10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MLLT10 Gene

Post-translational modifications for MLLT10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for MLLT10

No data available for DME Specific Peptides for MLLT10 Gene

Domains & Families for MLLT10 Gene

Gene Families for MLLT10 Gene

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

Suggested Antigen Peptide Sequences for MLLT10 Gene

GenScript: Design optimal peptide antigens:
  • ALL1-fused gene from chromosome 10 protein (AF10_HUMAN)
  • Type II AF10 protein (O60696_HUMAN)
  • Type III AF10 protein (O60697_HUMAN)
  • Type V AF10 protein (O60699_HUMAN)
  • Myeloid/lymphoid or mixed-lineage leukemia (Trithorax homolog, Drosophila) (Q5JT34_HUMAN)
genes like me logo Genes that share domains with MLLT10: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MLLT10 Gene

Function for MLLT10 Gene

Molecular function for MLLT10 Gene

UniProtKB/Swiss-Prot Function:
Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA. In cells, binding to unmodified histone H3 regulates DOT1L functions including histone H3 'Lys-79' dimethylation (H3K79me2) and gene activation (PubMed:26439302).

Phenotypes From GWAS Catalog for MLLT10 Gene

Gene Ontology (GO) - Molecular Function for MLLT10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 26439302
GO:0003700 DNA-binding transcription factor activity NAS 7888665
GO:0005515 protein binding IPI 17868029
GO:0031491 nucleosome binding IDA 26439302
genes like me logo Genes that share ontologies with MLLT10: view
genes like me logo Genes that share phenotypes with MLLT10: view

Human Phenotype Ontology for MLLT10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for MLLT10 Gene

miRTarBase miRNAs that target MLLT10

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MLLT10 Gene

Localization for MLLT10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLLT10 Gene

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 MLLT10 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MLLT10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15851025
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0032991 protein-containing complex IDA 15851025
genes like me logo Genes that share ontologies with MLLT10: view

Pathways & Interactions for MLLT10 Gene

PathCards logo

SuperPathways for MLLT10 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MLLT10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 17868029
genes like me logo Genes that share ontologies with MLLT10: view

No data available for Pathways by source and SIGNOR curated interactions for MLLT10 Gene

Drugs & Compounds for MLLT10 Gene

(2) Drugs for MLLT10 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for MLLT10 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MLLT10: view

Transcripts for MLLT10 Gene

mRNA/cDNA for MLLT10 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MLLT10 Gene

No ASD Table

Relevant External Links for MLLT10 Gene

GeneLoc Exon Structure for
MLLT10
ECgene alternative splicing isoforms for
MLLT10

Expression for MLLT10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MLLT10 Gene

Protein differential expression in normal tissues from HIPED for MLLT10 Gene

This gene is overexpressed in Testis (64.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MLLT10 Gene



Protein tissue co-expression partners for MLLT10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MLLT10 Gene:

MLLT10

SOURCE GeneReport for Unigene cluster for MLLT10 Gene:

Hs.30385

mRNA Expression by UniProt/SwissProt for MLLT10 Gene:

P55197-AF10_HUMAN
Tissue specificity: Expressed abundantly in testis.

Evidence on tissue expression from TISSUES for MLLT10 Gene

  • Bone marrow(2.7)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MLLT10 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 MLLT10: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MLLT10 Gene

Orthologs for MLLT10 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MLLT10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MLLT10 33 32
  • 96.94 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MLLT10 33 32
  • 94.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LOC519864 32
  • 93.46 (n)
MLLT10 33
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mllt10 17 33 32
  • 90.45 (n)
oppossum
(Monodelphis domestica)
Mammalia MLLT10 33
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mllt10 32
  • 86.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MLLT10 33
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves MLLT10 33 32
  • 84.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MLLT10 33
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mllt10 32
  • 73.16 (n)
Str.16297 32
zebrafish
(Danio rerio)
Actinopterygii mllt10 33 32
  • 59.77 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea zfp-1 33 34
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NTO1 33
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8085 33
  • 32 (a)
OneToMany
Cin.1015 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1015 32
Species where no ortholog for MLLT10 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for MLLT10 Gene

ENSEMBL:
Gene Tree for MLLT10 (if available)
TreeFam:
Gene Tree for MLLT10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MLLT10: view image

Paralogs for MLLT10 Gene

Paralogs for MLLT10 Gene

(7) SIMAP similar genes for MLLT10 Gene using alignment to 5 proteins:

  • AF10_HUMAN
  • E9PBP4_HUMAN
  • H0Y5C4_HUMAN
  • H0Y5P4_HUMAN
  • Q5JT35_HUMAN
genes like me logo Genes that share paralogs with MLLT10: view

Variants for MLLT10 Gene

Sequence variations from dbSNP and Humsavar for MLLT10 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000002550 -- 21,570,749(+) C/T genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000005617 -- 21,736,567(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000027362 -- 21,575,516(+) A/G genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000027739 -- 21,704,251(+) T/A genic_downstream_transcript_variant, intron_variant
rs1000043127 -- 21,651,034(+) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MLLT10 Gene

Variant ID Type Subtype PubMed ID
dgv133n67 CNV gain 20364138
dgv134n67 CNV gain 20364138
dgv135n67 CNV gain 20364138
esv22595 CNV gain 19812545
esv2609802 CNV deletion 19546169
nsv1052477 CNV gain 25217958
nsv1069030 CNV deletion 25765185
nsv1069462 CNV deletion 25765185
nsv1136112 CNV deletion 24896259
nsv1143625 CNV deletion 24896259
nsv475077 CNV novel sequence insertion 20440878
nsv475264 CNV novel sequence insertion 20440878
nsv478950 CNV novel sequence insertion 20440878
nsv478962 CNV novel sequence insertion 20440878
nsv550200 CNV loss 21841781
nsv550201 CNV loss 21841781
nsv550202 CNV gain 21841781
nsv550203 CNV loss 21841781
nsv825289 CNV loss 20364138

Variation tolerance for MLLT10 Gene

Residual Variation Intolerance Score: 4.83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.03; 37.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MLLT10 Gene

Human Gene Mutation Database (HGMD)
MLLT10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MLLT10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLLT10 Gene

Disorders for MLLT10 Gene

MalaCards: The human disease database

(9) MalaCards diseases for MLLT10 Gene - From: HGMD, OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukemia, acute myeloid
  • aml
precursor t-cell acute lymphoblastic leukemia
  • precursor t-cell acute lymphoblastic leukemia/lymphoma
leukemia, acute monocytic
  • acute monocytic leukemia
neonatal leukemia
hematologic cancer
  • blood cancer
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AF10_HUMAN
  • Note=A chromosomal aberration involving MLLT10 is associated with acute leukemias. Translocation t(10;11)(p12;q23) with KMT2A/MLL1. The result is a rogue activator protein.
  • Note=A chromosomal aberration involving MLLT10 is associated with diffuse histiocytic lymphomas. Translocation t(10;11)(p13;q14) with PICALM.

Additional Disease Information for MLLT10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MLLT10: view

No data available for Genatlas for MLLT10 Gene

Publications for MLLT10 Gene

  1. The PZP Domain of AF10 Senses Unmodified H3K27 to Regulate DOT1L-Mediated Methylation of H3K79. (PMID: 26439302) Chen S … Gozani O (Molecular cell 2015) 2 3 4 56
  2. AF10-dependent transcription is enhanced by its interaction with FLRG. (PMID: 17868029) Forissier S … Rimokh R (Biology of the cell 2007) 3 4 23 56
  3. hDOT1L links histone methylation to leukemogenesis. (PMID: 15851025) Okada Y … Zhang Y (Cell 2005) 3 4 23 56
  4. The MLL fusion partner AF10 binds GAS41, a protein that interacts with the human SWI/SNF complex. (PMID: 11756182) Debernardi S … Young BD (Blood 2002) 3 4 23 56
  5. The synovial sarcoma associated protein SYT interacts with the acute leukemia associated protein AF10. (PMID: 11423977) de Bruijn DR … Geurts van Kessel A (Oncogene 2001) 3 4 23 56

Products for MLLT10 Gene

Sources for MLLT10 Gene