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

    Gene ID: 4298, updated on 17-Jun-2024

    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 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
    NEW
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    Genomic context

    See MLLT1 in Genome Data Viewer
    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

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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)

    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, Q14768
      Related
      ENSP00000252674.6, ENST00000252674.9
      Conserved Domains (1) summary
      pfam03366
      Location:29109
      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_047438846.1XP_047294802.1  protein ENL isoform X5

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

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

      Conserved Domains (1) summary
      pfam03366
      Location:70150
      YEATS; YEATS family
    4. XM_011528022.2XP_011526324.1  protein ENL isoform X2

      Conserved Domains (1) summary
      pfam03366
      Location:31111
      YEATS; YEATS family
    5. XM_017026819.3XP_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_054321046.1XP_054177021.1  protein ENL isoform X5

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

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

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

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