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

Gene ID: 4298, updated on 11-Sep-2019

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
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
Expression
Ubiquitous expression in placenta (RPKM 30.6), ovary (RPKM 14.0) and 25 other tissues See more
Orthologs

Genomic context

See MLLT1 in Genome Data Viewer
Location:
19p13.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (6210381..6279975, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6210392..6279959, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene regulatory factor X2 Neighboring gene ribosomal protein L32 pseudogene Neighboring gene uncharacterized LOC105372255 Neighboring gene acyl-CoA synthetase bubblegum family member 2 Neighboring gene alkaline ceramidase 1 Neighboring gene caseinolytic mitochondrial matrix peptidase proteolytic subunit

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
fibrillar center IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
transcription elongation factor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_005934.4NP_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
    Related
    ENSP00000252674.6, ENST00000252674.9
    Conserved Domains (1) summary
    pfam03366
    Location:29109
    YEATS; YEATS family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam03366
    Location:70150
    YEATS; YEATS family
  2. XM_011528021.1XP_011526323.1  protein ENL isoform X1

    Conserved Domains (1) summary
    pfam03366
    Location:70150
    YEATS; YEATS family
  3. XM_011528022.1XP_011526324.1  protein ENL isoform X2

    Conserved Domains (1) summary
    pfam03366
    Location:31111
    YEATS; YEATS family
  4. XM_017026819.2XP_016882308.1  protein ENL isoform X4

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