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MLLT1 MLLT1 super elongation complex subunit [ Homo sapiens (human) ]

Gene ID: 4298, updated on 5-Mar-2024

Summary

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Official Symbol
MLLT1provided by HGNC
Official Full Name
MLLT1 super elongation complex subunitprovided by HGNC
Primary source
HGNC:HGNC:7134
See related
Ensembl:ENSG00000130382 MIM:159556; AllianceGenome:HGNC:7134
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ENL; LTG19; YEATS1
Summary
Predicted to be involved in regulation of transcription, DNA-templated. Predicted to act upstream of or within negative regulation of protein kinase activity. Located in cytosol; fibrillar center; and nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta (RPKM 30.6), ovary (RPKM 14.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19p13.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (6210381..6279975, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (6198560..6268171, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6210392..6279986, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene regulatory factor X2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6074378-6075171 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:6086791-6087292 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:6087293-6087792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6092583-6093288 Neighboring gene ribosomal protein L32 pseudogene 37 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6109025-6109525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9944 Neighboring gene uncharacterized LOC105372255 Neighboring gene Sharpr-MPRA regulatory region 9390 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:6134642-6135545 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:6135546-6136448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9945 Neighboring gene acyl-CoA synthetase bubblegum family member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6198732-6199335 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:6199336-6199938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13821 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6216753-6217667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6227079-6227744 Neighboring gene Sharpr-MPRA regulatory region 3427 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6239861-6240362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6243510-6244224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6263545-6264044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6263043-6263544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6273107-6273706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6276605-6277105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9947 Neighboring gene alkaline ceramidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6362217-6363174 Neighboring gene caseinolytic mitochondrial matrix peptidase proteolytic subunit

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Structure and Inhibitor Binding Characterization of Oncogenic MLLT1 Mutants. Ni X, et al. ACS Chem Biol, 2021 Apr 16. PMID 33749253
  2. ENL: structure, function, and roles in hematopoiesis and acute myeloid leukemia. Zhou J, et al. Cell Mol Life Sci, 2018 Nov. PMID 30066088
  3. MLLT1 YEATS domain mutations in clinically distinctive Favourable Histology Wilms tumours. Perlman EJ, et al. Nat Commun, 2015 Dec 4. PMID 26635203, Free PMC Article
  4. Identification of a novel isoform of the leukemia-associated MLLT1 (ENL/LTG19) protein. Wallingford MC, et al. Gene Expr Patterns, 2015 Jan. PMID 25481096
  5. MLL-ENL inhibits polycomb repressive complex 1 to achieve efficient transformation of hematopoietic cells. Maethner E, et al. Cell Rep, 2013 May 30. PMID 23623499, Free PMC Article

See all (85) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Circvrk1 downregulation attenuates brain microvascular endothelial cell damage induced by oxygen-glucose deprivation through modulating the miR-150-5p/MLLT1 axis.
    Title: Circvrk1 downregulation attenuates brain microvascular endothelial cell damage induced by oxygen-glucose deprivation through modulating the miR-150-5p/MLLT1 axis.
  2. The ENL YEATS epigenetic reader domain critically links MLL-ENL to leukemic stem cell frequency in t(11;19) Leukemia.
    Title: The ENL YEATS epigenetic reader domain critically links MLL-ENL to leukemic stem cell frequency in t(11;19) Leukemia.
  3. KAT6A and ENL Form an Epigenetic Transcriptional Control Module to Drive Critical Leukemogenic Gene-Expression Programs.
    Title: KAT6A and ENL Form an Epigenetic Transcriptional Control Module to Drive Critical Leukemogenic Gene-Expression Programs.
  4. The Intrinsically Disordered Proteins MLLT3 (AF9) and MLLT1 (ENL) - Multimodal Transcriptional Switches With Roles in Normal Hematopoiesis, MLL Fusion Leukemia, and Kidney Cancer.
    Title: The Intrinsically Disordered Proteins MLLT3 (AF9) and MLLT1 (ENL) - Multimodal Transcriptional Switches With Roles in Normal Hematopoiesis, MLL Fusion Leukemia, and Kidney Cancer.
  5. Structure and Inhibitor Binding Characterization of Oncogenic MLLT1 Mutants.
    Title: Structure and Inhibitor Binding Characterization of Oncogenic MLLT1 Mutants.
  6. Our findings show that the efficiency of MLL-ENL-driven AML initiation changes through the course of pre- and postnatal development, and developmental programs can be manipulated to impede transformation.
    Title: The efficiency of murine MLL-ENL-driven leukemia initiation changes with age and peaks during neonatal development.
  7. This review will not only provide a fundamental understanding of the structure and function of ENL and update on the roles of ENL in acute myeloid leukemia, but also the development of new therapeutic strategies
    Title: ENL: structure, function, and roles in hematopoiesis and acute myeloid leukemia.
  8. data identify ENL as a histone acetylation reader that regulates oncogenic transcriptional programs in acute myeloid leukaemia, and suggest that displacement of ENL from chromatin may be a promising epigenetic therapy, alone or in combination with BET inhibitors, for aggressive leukaemia
    Title: ENL links histone acetylation to oncogenic gene expression in acute myeloid leukaemia.
  9. MLL-ENL dysregulated the proliferative and repopulating capacity of hematopoietic stem cells.
    Title: Hematopoietic stem cells are intrinsically protected against MLL-ENL-mediated transformation.
  10. Recurrent mutations within Wilms tumours involve the highly conserved YEATS domain of MLLT1.
    Title: MLLT1 YEATS domain mutations in clinically distinctive Favourable Histology Wilms tumours.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Binding of isolated AFF1(1-308) CBS to CDK9/CycT1 prevents HIV-1 Tat from activating HIV transcription and assembling complete SECs (AFF1, AFF4, ELL2, and ENL). The AFF1(1-308) M60A/L61A mutant shows no suppression of Tat transactivation PubMed
tat HIV-1 Tat is identified to have a physical interaction with myeloid/lymphoid or mixed-lineage leukemia 1 (MLLT1; ENL) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
tat HIV-1 Tat forms at least two distinct P-TEFb-containing complexes. Tatcom1 is composed of P-TEFb, AF9, ENL, ELL, AFF1, AFF4, and PAF1, presenting strong CTD-kinase activity, while Tatcom2 consists of 7SK, LARP7, and MEPCE with two molecules of Tat/P-TEFb PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables lysine-acetylated histone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of transcription elongation factor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transcription elongation factor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
protein ENL
Names
CTC-503J8.6
ENL/MLL fusion
MLL/ENL fusion protein
MLLT1/MLL fusion
YEATS domain-containing protein 1
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 1
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005934.4 → NP_005925.2  protein ENL

    See identical proteins and their annotated locations for NP_005925.2

    Status: VALIDATED

    Source sequence(s)
    AC011471, BC047008, D14539
    Consensus CDS
    CCDS12160.1
    UniProtKB/Swiss-Prot
    Q03111, Q14768
    Related
    ENSP00000252674.6, ENST00000252674.9
    Conserved Domains (1) summary
    pfam03366
    Location:29 → 109
    YEATS; YEATS family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    6210381..6279975 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438846.1 → XP_047294802.1  protein ENL isoform X5

  2. XM_011528023.1 → XP_011526325.1  protein ENL isoform X3

    Conserved Domains (1) summary
    pfam03366
    Location:70 → 150
    YEATS; YEATS family

  3. XM_011528021.1 → XP_011526323.1  protein ENL isoform X1

    Conserved Domains (1) summary
    pfam03366
    Location:70 → 150
    YEATS; YEATS family

  4. XM_011528022.2 → XP_011526324.1  protein ENL isoform X2

    Conserved Domains (1) summary
    pfam03366
    Location:31 → 111
    YEATS; YEATS family

  5. XM_017026819.3 → XP_016882308.1  protein ENL isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    6198560..6268171 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321046.1 → XP_054177021.1  protein ENL isoform X5

  2. XM_054321044.1 → XP_054177019.1  protein ENL isoform X3

  3. XM_054321042.1 → XP_054177017.1  protein ENL isoform X1

  4. XM_054321043.1 → XP_054177018.1  protein ENL isoform X2

  5. XM_054321045.1 → XP_054177020.1  protein ENL isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q03111.2 GenPept UniProtKB/Swiss-Prot:Q03111

Gene LinkOut

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