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    MLLT3 MLLT3 super elongation complex subunit [ Homo sapiens (human) ]

    Gene ID: 4300, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MLLT3provided by HGNC
    Official Full Name
    MLLT3 super elongation complex subunitprovided by HGNC
    Primary source
    HGNC:HGNC:7136
    See related
    Ensembl:ENSG00000171843 MIM:159558; AllianceGenome:HGNC:7136
    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
    AF9; YEATS3
    Summary
    Enables chromatin binding activity; lysine-acetylated histone binding activity; and molecular adaptor activity. Involved in several processes, including hematopoietic stem cell differentiation; positive regulation of DNA-templated transcription; and regulation of stem cell division. Acts upstream of or within negative regulation of canonical Wnt signaling pathway and positive regulation of Wnt signaling pathway, planar cell polarity pathway. Located in cytosol and nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.2), colon (RPKM 4.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MLLT3 in Genome Data Viewer
    Location:
    9p21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (20341669..20622499, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (20355454..20636229, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (20341667..20622498, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 24 member 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:19967668-19968507 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:19999298-20000497 Neighboring gene glutaredoxin 3 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:20111206-20111956 Neighboring gene Sharpr-MPRA regulatory region 8935 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:20276506-20277705 Neighboring gene Sharpr-MPRA regulatory region 2682 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:20290423-20290924 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:20302065-20302742 Neighboring gene uncharacterized LOC124902129 Neighboring gene Sharpr-MPRA regulatory region 10870 Neighboring gene survival of motor neuron 1, telomeric pseudogene Neighboring gene RNA, U4 small nuclear 26, pseudogene Neighboring gene microRNA 4473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28228 Neighboring gene microRNA 4474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19796 Neighboring gene ribosomal protein L7a pseudogene 48 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19799 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28230 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:20683960-20684700 Neighboring gene FOCAD antisense RNA 1 Neighboring gene focadhesin Neighboring gene microRNA 491

    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 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. Exploring the mechanism how AF9 recognizes and binds H3K9ac by molecular dynamics simulations and free energy calculations. Wang Q, et al. Biopolymers, 2016 Nov. PMID 27312527
    2. Molecular Recognition of Methacryllysine and Crotonyllysine by the AF9 YEATS Domain. Bilgin N, et al. Int J Mol Sci, 2023 Apr 10. PMID 37108167, Free PMC Article
    3. MLLT3 gene on 9p22 involved in t(9;11) leukemia encodes a serine/proline rich protein homologous to MLLT1 on 19p13. Iida S, et al. Oncogene, 1993 Nov. PMID 8414510
    4. Characterization of Copy Number Variations in Oral Cavity Squamous Cell Carcinoma Reveals a Novel Role for MLLT3 in Cell Invasiveness. Wang CI, et al. Oncologist, 2019 Dec. PMID 31273053, Free PMC Article
    5. MLLT3 regulates early human erythroid and megakaryocytic cell fate. Pina C, et al. Cell Stem Cell, 2008 Mar 6. PMID 18371451

    See all (113) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MLL-AF9 regulates transcriptional initiation in mixed lineage leukemic cells.
      Title: MLL-AF9 regulates transcriptional initiation in mixed lineage leukemic cells.
    2. Impact of MLL::AF9 Gene Rearrangement on Survival of Acute Myeloid Leukaemia Patients: An Insight into Pakistani Population.
      Title: Impact of MLL::AF9 Gene Rearrangement on Survival of Acute Myeloid Leukaemia Patients: An Insight into Pakistani Population.
    3. AF9 sustains glycolysis in colorectal cancer via H3K9ac-mediated PCK2 and FBP1 transcription.
      Title: AF9 sustains glycolysis in colorectal cancer via H3K9ac-mediated PCK2 and FBP1 transcription.
    4. Molecular Recognition of Methacryllysine and Crotonyllysine by the AF9 YEATS Domain.
      Title: Molecular Recognition of Methacryllysine and Crotonyllysine by the AF9 YEATS Domain.
    5. The adverse impact of ecotropic viral integration site-1 (EVI1) overexpression on the prognosis of acute myeloid leukemia with KMT2A gene rearrangement in different risk stratification subtypes.
      Title: The adverse impact of ecotropic viral integration site-1 (EVI1) overexpression on the prognosis of acute myeloid leukemia with KMT2A gene rearrangement in different risk stratification subtypes.
    6. BCOR Binding to MLL-AF9 Is Essential for Leukemia via Altered EYA1, SIX, and MYC Activity.
      Title: BCOR Binding to MLL-AF9 Is Essential for Leukemia via Altered EYA1, SIX, and MYC Activity.
    7. 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.
    8. The Transcriptional Coactivator, ALL1-Fused Gene From Chromosome 9, Simultaneously Sustains Hypoxia Tolerance and Metabolic Advantages in Liver Cancer.
      Title: The Transcriptional Coactivator, ALL1-Fused Gene From Chromosome 9, Simultaneously Sustains Hypoxia Tolerance and Metabolic Advantages in Liver Cancer.
    9. The miR-5694/AF9/Snail Axis Provides Metastatic Advantages and a Therapeutic Target in Basal-like Breast Cancer.
      Title: The miR-5694/AF9/Snail Axis Provides Metastatic Advantages and a Therapeutic Target in Basal-like Breast Cancer.
    10. Relationships between AML1-ETO and MLL-AF9 fusion gene expressions and hematological parameters in acute myeloid leukemia.
      Title: Relationships between AML1-ETO and MLL-AF9 fusion gene expressions and hematological parameters in acute myeloid leukemia.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat 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

    Clone Names

    • FLJ2035, FLJ46355

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables lysine-acetylated histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lysine-acetylated histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables modification-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables molecular adaptor activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hematopoietic stem cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of Wnt signaling pathway, planar cell polarity pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of chromatin organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of stem cell division IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in segment specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 AF-9
    Names
    ALL1-fused gene from chromosome 9 protein
    KMT2A/MLLT3 fusion protein
    YEATS domain-containing protein 3
    myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 3
    myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
    myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein
    myeloid/lymphoid or mixed-lineage leukemia; translocated to 3

    NCBI Reference Sequences (RefSeq)

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    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_001286691.2 → NP_001273620.1  protein AF-9 isoform b

      See identical proteins and their annotated locations for NP_001273620.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' exon and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AK301474, AL512635, DC306929
      Consensus CDS
      CCDS69579.1
      UniProtKB/TrEMBL
      B7Z4N5
      Related
      ENSP00000485996.1, ENST00000630269.2
      Conserved Domains (2) summary
      cd16906
      Location:6 → 134
      YEATS_AF-9_like; YEATS domain found in ENL and AF-9-like proteins
      pfam17793
      Location:500 → 560
      AHD; ANC1 homology domain (AHD)

    2. NM_004529.4 → NP_004520.2  protein AF-9 isoform a

      See identical proteins and their annotated locations for NP_004520.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL512635, BC036089, L13744
      Consensus CDS
      CCDS6494.1
      UniProtKB/Swiss-Prot
      B1AMQ2, B2R7B3, B7Z755, D3DRJ8, P42568, Q8IVB0
      UniProtKB/TrEMBL
      A0A0S2Z448, B7Z4N5
      Related
      ENSP00000369695.4, ENST00000380338.9
      Conserved Domains (2) summary
      cd16906
      Location:9 → 137
      YEATS_AF-9_like; YEATS domain found in ENL and AF-9-like proteins
      pfam17793
      Location:503 → 563
      AHD; ANC1 homology domain (AHD)

    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

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      20341669..20622499 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      20355454..20636229 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P42568.2 GenPept UniProtKB/Swiss-Prot:P42568

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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