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Aliases for MLLT1 Gene

Aliases for MLLT1 Gene

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

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 Borderline Leprosy and Indeterminate Leprosy. Among its related pathways are Transcriptional misregulation in cancer and Gene Expression. An important paralog of this gene is MLLT3.

UniProtKB/Swiss-Prot for MLLT1 Gene

  • 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.

Gene Wiki entry for MLLT1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLLT1 Gene

Genomics for MLLT1 Gene

Regulatory Elements for MLLT1 Gene

Enhancers for MLLT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G006270 2 FANTOM5 Ensembl ENCODE dbSUPER 8.4 +4.6 4596 10.7 CREB3L1 MLX AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 ZNF557 SNRPEP4 SAFB ENSG00000267571 VMAC GPR108 ACSBG2 SH2D3A MLLT1 VAV1
GH19G006480 0.9 ENCODE 5.2 -201.9 -201934 2.2 HDAC1 HDGF ATF1 RB1 SIN3A ARID4B YBX1 ZNF48 RAD21 ZBTB40 SLC25A23 SLC25A41 MLLT1 DENND1C ENSG00000275234
GH19G006267 0.6 dbSUPER 5.6 +11.6 11597 1.9 CTCF FOXA2 MAX ZBTB8A RAD21 YY1 KAT2B ZKSCAN8 HNF4A ACSBG2 MLLT1 ENSG00000280394
GH19G006268 0.6 dbSUPER 5.6 +12.1 12059 0.9 FOXA2 ZKSCAN8 ZBTB8A HNF4A RAD21 YY1 KAT2B ACSBG2 MLLT1 ENSG00000280394
GH19G006261 0.2 dbSUPER 6.4 +17.6 17609 1.0 MLLT1 ENSG00000280394 GC19P006261
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MLLT1 on UCSC Golden Path with GeneCards custom track

Promoters for MLLT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106507 148 1601 HDGF PKNOX1 MLX ARID4B SIN3A ZNF2 SLC30A9 ZNF143 FOS ZNF548

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

Genomic Location for MLLT1 Gene

Chromosome:
19
Start:
6,210,379 bp from pter
End:
6,279,948 bp from pter
Size:
69,570 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). Interacts with ALKBH4.

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MLLT1 (MLLT1)
  • Abcam antibodies for MLLT1
  • Santa Cruz Biotechnology (SCBT) Antibodies for MLLT1

No data available for DME Specific Peptides for MLLT1 Gene

Domains & Families for MLLT1 Gene

Protein Domains for MLLT1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MLLT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MLLT1 Gene

Function for MLLT1 Gene

Molecular function for MLLT1 Gene

GENATLAS Biochemistry:
serine/proline rich nuclear protein,fused with HRX (MLL) in acute lymphoblastic leukemia with translocation t(11;19)(q23;p13)
UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for MLLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Clone Products

  • Addgene plasmids for MLLT1

Flow Cytometry Products

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 1
cytoskeleton 1
golgi apparatus 1

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter 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

Transcripts for MLLT1 Gene

mRNA/cDNA for MLLT1 Gene

(5) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MLLT1 Gene

Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MLLT1

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MLLT1 Gene

GeneLoc Exon Structure for
MLLT1
ECgene alternative splicing isoforms for
MLLT1

Expression for MLLT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MLLT1 Gene



Protein tissue co-expression partners for MLLT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MLLT1 Gene:

MLLT1

SOURCE GeneReport for Unigene cluster for MLLT1 Gene:

Hs.10095

Evidence on tissue expression from TISSUES for MLLT1 Gene

  • Nervous system(2.4)
  • Blood(2.2)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with MLLT1: view

Primer Products

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 34 35
  • 99.01 (n)
dog
(Canis familiaris)
Mammalia MLLT1 34 35
  • 90.17 (n)
cow
(Bos Taurus)
Mammalia MLLT1 34 35
  • 89.63 (n)
rat
(Rattus norvegicus)
Mammalia Mllt1 34
  • 86.17 (n)
mouse
(Mus musculus)
Mammalia Mllt1 34 16 35
  • 86.11 (n)
oppossum
(Monodelphis domestica)
Mammalia MLLT1 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MLLT1 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MLLT1 34 35
  • 78.32 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia mllt1 34
  • 69.95 (n)
Str.6223 34
zebrafish
(Danio rerio)
Actinopterygii mllt1 34 35
  • 70.32 (n)
MLLT1 (1 of 2) 35
  • 64 (a)
OneToMany
Dr.29084 34
fruit fly
(Drosophila melanogaster)
Insecta ear 36 35
  • 44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2675 35
  • 37 (a)
OneToMany
Species where no ortholog for MLLT1 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)
  • 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 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)

Paralogs for MLLT1 Gene

Paralogs for MLLT1 Gene

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

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

Variants for MLLT1 Gene

Sequence variations from dbSNP and Humsavar for MLLT1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000040978 -- 6,228,172(+) GCCAC(A/G)GGAGG intron-variant
rs1000046459 -- 6,261,392(+) AAAGT(G/T)GAATG intron-variant
rs1000072322 -- 6,267,127(+) GACAT(A/T)GTTTC intron-variant
rs1000178917 -- 6,240,711(+) AGCTA(C/T)GAACC intron-variant
rs1000181700 -- 6,252,458(+) TGGAG(-/A)AAAAA intron-variant

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)

Relevant External Links for MLLT1 Gene

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

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

Disorders for MLLT1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
borderline leprosy
  • borderline leprosy [group b]
indeterminate leprosy
  • indeterminate leprosy [group i]
myeloid/lymphoid or mixed lineage leukemia
  • mll
chronic inflammation of lacrimal passage
chronic dacryocystitis
- 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.

Relevant External Links for MLLT1

Genetic Association Database (GAD)
MLLT1
Human Genome Epidemiology (HuGE) Navigator
MLLT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MLLT1
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. … Ueda R. (Oncogene 1993) 3 4 22 64
  2. Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias. (PMID: 1423624) Tkachuk D.C. … Cleary M.L. (Cell 1992) 3 4 22 64
  3. The little elongation complex regulates small nuclear RNA transcription. (PMID: 22195968) Smith E.R. … Shilatifard A. (Mol. Cell 2011) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. HIV-1 Tat and host AFF4 recruit two transcription elongation factors into a bifunctional complex for coordinated activation of HIV-1 transcription. (PMID: 20471948) He N. … Zhou Q. (Mol. Cell 2010) 3 4 64

Products for MLLT1 Gene

Sources for MLLT1 Gene

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