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

Summary

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 enable chromatin binding activity and lysine-acetylated histone binding activity. Predicted to be involved in positive regulation of DNA-templated transcription. 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, Nov 2024]
Expression: Ubiquitous expression in placenta (RPKM 30.6), ovary (RPKM 14.0) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 19p13.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (6210381..6279975, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (6198560..6268171, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (6210392..6279986, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Structure and Inhibitor Binding Characterization of Oncogenic MLLT1 Mutants.
Title: Structure and Inhibitor Binding Characterization of Oncogenic MLLT1 Mutants.
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.
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.
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.
MLL-ENL dysregulated the proliferative and repopulating capacity of hematopoietic stem cells.
Title: Hematopoietic stem cells are intrinsically protected against MLL-ENL-mediated transformation.
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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

WI-20279 (e-PCR)
- UniSTS:67112

NoName (e-PCR)
- UniSTS:486265

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

Go to the top of the page Help

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)

Go to the top of the page Help

NEW Try the new Transcript table

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_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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

6210381..6279975 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047438846.1 → XP_047294802.1 protein ENL isoform X5
XM_011528023.1 → XP_011526325.1 protein ENL isoform X3

Conserved Domains (1) summary

pfam03366
Location:70 → 150

YEATS; YEATS family
XM_011528021.1 → XP_011526323.1 protein ENL isoform X1

Conserved Domains (1) summary

pfam03366
Location:70 → 150

YEATS; YEATS family
XM_011528022.2 → XP_011526324.1 protein ENL isoform X2

Conserved Domains (1) summary

pfam03366
Location:31 → 111

YEATS; YEATS family
XM_017026819.3 → XP_016882308.1 protein ENL isoform X4