Mllt1 myeloid/lymphoid or mixed-lineage leukemia; translocated to, 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mllt1provided by MGI
Official Full Name: myeloid/lymphoid or mixed-lineage leukemia; translocated to, 1provided by MGI
Primary source: MGI:MGI:1927238
See related: Ensembl:ENSMUSG00000024212 AllianceGenome:MGI:1927238
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ENL; BAM11; LTG19
Summary: Predicted to enable chromatin binding activity and lysine-acetylated histone binding activity. Acts upstream of or within negative regulation of protein kinase activity. Located in nucleus. Is expressed in several structures, including brain; branchial arch; limb; maxillary process; and sensory organ. Orthologous to human MLLT1 (MLLT1 super elongation complex subunit). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in thymus adult (RPKM 43.0), ovary adult (RPKM 41.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 D; 17 29.56 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (57199611..57242497, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (56892608..56935509, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

miR-122-5p Promotes Peripheral and Central Nervous System Inflammation in a Mouse Model of Intracerebral Hemorrhage via Disruption of the MLLT1/PI3K/AKT Signaling.
Title: miR-122-5p Promotes Peripheral and Central Nervous System Inflammation in a Mouse Model of Intracerebral Hemorrhage via Disruption of the MLLT1/PI3K/AKT Signaling.
Down-regulation of MLLT1 super elongation complex subunit impairs the anti-tumor activity of natural killer cells in esophageal cancer.
Title: Down-regulation of MLLT1 super elongation complex subunit impairs the anti-tumor activity of natural killer cells in esophageal cancer.
ENL overcomes polycomb silencing through recruitment of PAF1 via the conserved YEATS domain, which recognizes acetylated histone H3.
Title: The interaction of ENL with PAF1 mitigates polycomb silencing and facilitates murine leukemogenesis.
direct regulation of the stability of MLL1 through its cleavage by taspase1
Title: Regulation of MLL/COMPASS stability through its proteolytic cleavage by taspase1 as a possible approach for clinical therapy of leukemia.
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.
define a specific pairing of two amino acids that creates a salt bridge between MLLT1/3 and AFF proteins that is critically important for MLL-mediated transformation of HPCs
Title: Importance of a specific amino acid pairing for murine MLL leukemias driven by MLLT1/3 or AFF1/4.
Even genetically complex leukemias can be reversed on inactivation of the initiating MLL fusion.
Title: Acute myeloid leukemia induced by MLL-ENL is cured by oncogene ablation despite acquisition of complex genetic abnormalities.
Overlapping expression of Af9 with Af4/Aff1 and Fmr2/Aff2, two genes that are also related to neurodevelopmental diseases, as well as with the highly homologous Enl.
Title: Expression of Leukaemia associated transcription factor Af9/Mllt3 in the cerebral cortex of the mouse.
An intimate association between MLL and RNA pol II occurs at MLL target genes in vivo that is required for normal initiation and/or transcriptional elongation.
Title: MLL associates specifically with a subset of transcriptionally active target genes.
characterization of gene structure, mapping to chromosome 17, and demonstration of an essential role in embryonic development
Title: The leukemia-associated gene Mllt1/ENL: characterization of a murine homolog and demonstration of an essential role in embryonic development.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124646 (e-PCR)
- UniSTS:161468

RH125746 (e-PCR)
- UniSTS:162501

Gene Ontology Provided by MGI

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
acts_upstream_of_or_within negative regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription elongation factor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription elongation factor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein ENL

Names: leukemia-associated protein MLLT1; myeloid/lymphoid or mixed lineage-leukemia translocation to 1 homolog; myeloid/lymphoid or mixed lineage-leukemia translocation to 4 homolog; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1; trithorax

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)

NM_001410196.1 → NP_001397125.1 protein ENL isoform 2

Status: VALIDATED

Source sequence(s)

AC073683

UniProtKB/TrEMBL

Q8CJ76
NM_001410198.1 → NP_001397127.1 protein ENL isoform 3

Status: VALIDATED

Source sequence(s)

AC073683
NM_022328.3 → NP_071723.1 protein ENL isoform 1

See identical proteins and their annotated locations for NP_071723.1

Status: VALIDATED

Source sequence(s)

AC073683

Consensus CDS

CCDS28918.1

UniProtKB/TrEMBL

Q8CJ76, Q9ERL0

Related

ENSMUSP00000025053.9, ENSMUST00000025053.10

Conserved Domains (2) summary

pfam03366
Location:29 → 109

YEATS; YEATS family

pfam05110
Location:152 → 335

AF-4; AF-4 proto-oncoprotein