Aliases for MLLT1 Gene

Aliases for MLLT1 Gene

  • MLLT1 Super Elongation Complex Subunit 2 3 5
  • YEATS1 2 3 4
  • LTG19 2 3 4
  • ENL 2 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia; Translocated To, 1 2 3
  • YEATS Domain-Containing Protein 1 3 4
  • Protein ENL 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila); Translocated To, 1 3
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog); Translocated To, 1 3
  • MLL/ENL Fusion Protein 3
  • MLLT1/MLL Fusion 3
  • ENL/MLL Fusion 3
  • CTC-503J8.6 3
  • MLLT1 5

External Ids for MLLT1 Gene

Previous GeneCards Identifiers for MLLT1 Gene

  • GC19M006305
  • GC19M006152
  • GC19M006163
  • GC19M005969

Summaries for MLLT1 Gene

GeneCards Summary for MLLT1 Gene

MLLT1 (MLLT1 Super Elongation Complex Subunit) is a Protein Coding gene. Diseases associated with MLLT1 include Acute Leukemia and Leukemia. Among its related pathways are Transcriptional misregulation in cancer and Chromatin Regulation / Acetylation. An important paralog of this gene is MLLT3.

UniProtKB/Swiss-Prot Summary for MLLT1 Gene

  • Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA (PubMed:20159561, PubMed:20471948). Specifically recognizes and binds acetylated and crotonylated histones, with a preference for histones that are crotonylated (PubMed:27105114). Has a slightly higher affinity for binding histone H3 crotonylated at 'Lys-27' (H3K27cr) than 'Lys-20' (H3K9cr20) (PubMed:27105114).
  • Acts as a key chromatin reader in acute myeloid leukemia by recognizing and binding to acetylated histones via its YEATS domain, thereby regulating oncogenic gene transcription.

Gene Wiki entry for MLLT1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MLLT1 Gene

Genomics for MLLT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MLLT1 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
GH19J006270 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 608.4 +4.6 4635 10.7 SP1 HNRNPL GATAD2A CTCF PRDM10 ZNF629 REST TFE3 LEF1 IKZF1 MLLT1 DUS3L KHSRP ZNF557 SNRPEP4 SAFB ENSG00000267571 VMAC GPR108 RANBP3
GH19J006480 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 5.2 -201.7 -201720 2.6 GATAD2A CTCF POLR2A LARP7 ZNF143 ZIC2 REST ZNF740 TRIM22 HDAC1 DENND1C SLC25A23 SLC25A41 MLLT1 lnc-SLC25A23-2
GH19J006248 Enhancer 0.9 Ensembl ENCODE dbSUPER 5.4 +29.5 29474 5.4 POLR2A SPI1 EBF1 GABPA HNF4A ZNF146 RXRA SMARCA4 HNF4G TCF7 MLLT1 ENSG00000267563 lnc-MLLT1-2 RFX2
GH19J006267 Enhancer 0.6 dbSUPER 5.6 +11.6 11624 1.9 FOXA2 ZKSCAN8 YY1 RAD21 HNF4A RXRA KAT2B MAX ZBTB8A SP1 ACSBG2 MLLT1 ENSG00000280394 RFX2
GH19J006246 Enhancer 0.5 Ensembl 5.2 +33.2 33177 0.8 ZNF7 TCF7 TFAP4 ARID4B SP5 RAD51 ZBTB33 MLLT1 ENSG00000267563 lnc-MLLT1-2 RFX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MLLT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MLLT1

Top Transcription factor binding sites by QIAGEN in the MLLT1 gene promoter:
  • AML1a

Genomic Locations for MLLT1 Gene

Genomic Locations for MLLT1 Gene
chr19:6,210,381-6,279,975
(GRCh38/hg38)
Size:
69,595 bases
Orientation:
Minus strand
chr19:6,210,392-6,279,959
(GRCh37/hg19)
Size:
69,568 bases
Orientation:
Minus strand

Genomic View for MLLT1 Gene

Genes around MLLT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MLLT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MLLT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLLT1 Gene

Proteins for MLLT1 Gene

  • Protein details for MLLT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03111-ENL_HUMAN
    Recommended name:
    Protein ENL
    Protein Accession:
    Q03111
    Secondary Accessions:
    • Q14768

    Protein attributes for MLLT1 Gene

    Size:
    559 amino acids
    Molecular mass:
    62056 Da
    Quaternary structure:
    • Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3) (PubMed:20159561, PubMed:20471948, PubMed:22195968). Interacts with ALKBH4 (PubMed:23145062). Component of a SWI/SNF-like EBAFb complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, SMARCC1/BAF155, SMARCC2/BAF170, ARID1B/BAF250B, MLLT1/ENL and actin (PubMed:12665591).

    Three dimensional structures from OCA and Proteopedia for MLLT1 Gene

neXtProt entry for MLLT1 Gene

Post-translational modifications for MLLT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MLLT1 Gene

No data available for DME Specific Peptides for MLLT1 Gene

Domains & Families for MLLT1 Gene

Gene Families for MLLT1 Gene

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

Protein Domains for MLLT1 Gene

InterPro:
Blocks:
  • YEATS family
ProtoNet:

Suggested Antigen Peptide Sequences for MLLT1 Gene

GenScript: Design optimal peptide antigens:
  • YEATS domain-containing protein 1 (ENL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q03111

UniProtKB/Swiss-Prot:

ENL_HUMAN :
  • The YEATS domain specifically recognizes and binds acylated histones, with a preference for histones that are crotonylated.
Domain:
  • The YEATS domain specifically recognizes and binds acylated histones, with a preference for histones that are crotonylated.
genes like me logo Genes that share domains with MLLT1: view

Function for MLLT1 Gene

Molecular function for MLLT1 Gene

UniProtKB/Swiss-Prot Function:
Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA (PubMed:20159561, PubMed:20471948). Specifically recognizes and binds acetylated and crotonylated histones, with a preference for histones that are crotonylated (PubMed:27105114). Has a slightly higher affinity for binding histone H3 crotonylated at 'Lys-27' (H3K27cr) than 'Lys-20' (H3K9cr20) (PubMed:27105114).
UniProtKB/Swiss-Prot Function:
Acts as a key chromatin reader in acute myeloid leukemia by recognizing and binding to acetylated histones via its YEATS domain, thereby regulating oncogenic gene transcription.
UniProtKB/Swiss-Prot EnzymeRegulation:
Acylated lysine-binding is specifically inhibited by the tripeptide XL-13m, carrying a 2-furancarbonyl side chain, preventing recruitment to chromatin.
GENATLAS Biochemistry:
serine/proline rich nuclear protein,fused with HRX (MLL) in acute lymphoblastic leukemia with translocation t(11;19)(q23;p13)

Phenotypes From GWAS Catalog for MLLT1 Gene

Gene Ontology (GO) - Molecular Function for MLLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding TAS 7991593
GO:0005515 protein binding IPI 20153263
genes like me logo Genes that share ontologies with MLLT1: view
genes like me logo Genes that share phenotypes with MLLT1: view

Animal Models for MLLT1 Gene

MGI Knock Outs for MLLT1:

Animal Model Products

CRISPR Products

miRNA for MLLT1 Gene

miRTarBase miRNAs that target MLLT1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MLLT1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MLLT1 Gene

Localization for MLLT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLLT1 Gene

Nucleus.

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 MLLT1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MLLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus TAS 8080983
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
GO:0008023 transcription elongation factor complex IDA 22195968
genes like me logo Genes that share ontologies with MLLT1: view

Pathways & Interactions for MLLT1 Gene

genes like me logo Genes that share pathways with MLLT1: view

Gene Ontology (GO) - Biological Process for MLLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006366 transcription by RNA polymerase II TAS --
GO:0006368 transcription elongation from RNA polymerase II promoter TAS --
GO:0006469 negative regulation of protein kinase activity IEA --
genes like me logo Genes that share ontologies with MLLT1: view

No data available for SIGNOR curated interactions for MLLT1 Gene

Drugs & Compounds for MLLT1 Gene

No Compound Related Data Available

Transcripts for MLLT1 Gene

mRNA/cDNA for MLLT1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MLLT1

Alternative Splicing Database (ASD) splice patterns (SP) for MLLT1 Gene

No ASD Table

Relevant External Links for MLLT1 Gene

GeneLoc Exon Structure for
MLLT1

Expression for MLLT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MLLT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MLLT1 Gene

This gene is overexpressed in Lung (16.4) and Blymphocyte (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MLLT1 Gene



Protein tissue co-expression partners for MLLT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MLLT1

SOURCE GeneReport for Unigene cluster for MLLT1 Gene:

Hs.10095

Evidence on tissue expression from TISSUES for MLLT1 Gene

  • Nervous system(2.8)
  • Blood(2.7)
  • Bone marrow(2.6)
  • Skin(2.5)
  • Kidney(2.3)
  • Liver(2.3)
  • Spleen(2.3)
  • Muscle(2.3)
  • Intestine(2.2)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with MLLT1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MLLT1 Gene

Orthologs for MLLT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MLLT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MLLT1 30 31
  • 99.01 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MLLT1 30 31
  • 90.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MLLT1 30 31
  • 89.63 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mllt1 30
  • 86.17 (n)
Mouse
(Mus musculus)
Mammalia Mllt1 30 17 31
  • 86.11 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MLLT1 31
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MLLT1 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MLLT1 30 31
  • 78.32 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mllt1 30
  • 69.95 (n)
Str.6223 30
Zebrafish
(Danio rerio)
Actinopterygii mllt1 30 31
  • 70.32 (n)
OneToMany
MLLT1 (1 of 2) 31
  • 64 (a)
OneToMany
Dr.29084 30
Fruit Fly
(Drosophila melanogaster)
Insecta ear 31 32
  • 15 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2675 31
  • 37 (a)
OneToMany
Species where no ortholog for MLLT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for MLLT1 Gene

ENSEMBL:
Gene Tree for MLLT1 (if available)
TreeFam:
Gene Tree for MLLT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MLLT1: view image

Paralogs for MLLT1 Gene

Paralogs for MLLT1 Gene

(3) SIMAP similar genes for MLLT1 Gene using alignment to 1 proteins:

  • ENL_HUMAN
genes like me logo Genes that share paralogs with MLLT1: view

Variants for MLLT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MLLT1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
718642 Benign: not provided 6,222,542(-) G/A MISSENSE_VARIANT
rs749203329 Likely Pathogenic: Hypertelorism; Muscular hypotonia; Global developmental delay; Cerebral atrophy; Abnormal cortical gyration; Short nose; Infantile spasms 6,213,787(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MLLT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MLLT1 Gene

Variant ID Type Subtype PubMed ID
esv2662795 CNV deletion 23128226
esv2666707 CNV deletion 23128226
esv2718063 CNV deletion 23290073
esv2718064 CNV deletion 23290073
esv3643548 CNV loss 21293372
esv3643549 CNV loss 21293372
esv991625 CNV deletion 20482838
nsv1055913 CNV gain 25217958
nsv1059525 CNV gain 25217958
nsv1134748 CNV deletion 24896259
nsv2396 CNV insertion 18451855
nsv953953 CNV deletion 24416366
nsv953954 CNV deletion 24416366

Variation tolerance for MLLT1 Gene

Residual Variation Intolerance Score: 13.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.81; 47.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MLLT1 Gene

Human Gene Mutation Database (HGMD)
MLLT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MLLT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLLT1 Gene

Disorders for MLLT1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for MLLT1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acute leukemia
  • stem cell leukaemia
leukemia
  • leukemias
borderline leprosy
  • borderline or dimorphous leprosy
childhood leukemia
leprosy 3
  • leprosy, susceptibility to, 3
- elite association - COSMIC cancer census association via MalaCards
Search MLLT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ENL_HUMAN
  • Note=A chromosomal aberration involving MLLT1 is associated with acute leukemias. Translocation t(11;19)(q23;p13.3) with KMT2A/MLL1. The result is a rogue activator protein.

Additional Disease Information for MLLT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MLLT1: view

No data available for Genatlas for MLLT1 Gene

Publications for MLLT1 Gene

  1. Two distinct portions of LTG19/ENL at 19p13 are involved in t(11;19) leukemia. (PMID: 8378076) Yamamoto K … Takahashi T (Oncogene 1993) 3 4 23
  2. Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias. (PMID: 1423624) Tkachuk DC … Cleary ML (Cell 1992) 3 4 23
  3. ENL links histone acetylation to oncogenic gene expression in acute myeloid leukaemia. (PMID: 28241141) Wan L … Shi X (Nature 2017) 3 4
  4. Human ALKBH4 interacts with proteins associated with transcription. (PMID: 23145062) Bjørnstad LG … Falnes PØ (PloS one 2012) 3 4
  5. The little elongation complex regulates small nuclear RNA transcription. (PMID: 22195968) Smith ER … Shilatifard A (Molecular cell 2011) 3 4

Products for MLLT1 Gene

Sources for MLLT1 Gene