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    MLLT6 MLLT6, PHD finger containing [ Homo sapiens (human) ]

    Gene ID: 4302, updated on 27-Nov-2024

    Summary

    Official Symbol
    MLLT6provided by HGNC
    Official Full Name
    MLLT6, PHD finger containingprovided by HGNC
    Primary source
    HGNC:HGNC:7138
    See related
    Ensembl:ENSG00000275023 MIM:600328; AllianceGenome:HGNC:7138
    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
    AF17
    Summary
    Enables histone binding activity and nucleosome binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including renal potassium excretion; renal sodium excretion; and renal water absorption. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 30.7), ovary (RPKM 26.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MLLT6 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38705273..38729795)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (39568358..39592880)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36861526..36886048)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8107 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36829618-36830453 Neighboring gene Sharpr-MPRA regulatory region 4536 Neighboring gene elongin BC and polycomb repressive complex 2 associated protein Neighboring gene uncharacterized LOC105371763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36858367-36858898 Neighboring gene microRNA 4734 Neighboring gene uncharacterized LOC124903993 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36872979-36873638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36873639-36874298 Neighboring gene uncharacterized LOC105371762 Neighboring gene microRNA 4726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36881911-36882602 Neighboring gene control region 19 heart enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36887390-36887927 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36891176-36891703 Neighboring gene RNA, 5S ribosomal pseudogene 440 Neighboring gene CDGSH iron sulfur domain 3 Neighboring gene polycomb group ring finger 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36898365-36899265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36901628-36902393 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36902394-36903158 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36904187-36904722 Neighboring gene uncharacterized LOC100287808

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ23480

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables nucleosome binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of urine volume IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in renal potassium excretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal sodium excretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal water absorption IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    protein AF-17
    Names
    ALL1-fused gene from chromosome 17 protein
    KMT2A-MLLT6 fusion protein
    KMT2A/MLLT6 fusion
    MLLT6, PHD finger domain containing
    MLLT6/KMT2A fusion
    Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6
    myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 6
    myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6
    myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6
    trithorax homolog

    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_005937.4NP_005928.2  protein AF-17

      See identical proteins and their annotated locations for NP_005928.2

      Status: VALIDATED

      Source sequence(s)
      AB209633, AC006449, KF456275
      Consensus CDS
      CCDS11327.1
      UniProtKB/Swiss-Prot
      P55198, Q59F28, Q96IU3, Q9H5F6, Q9UF49
      Related
      ENSP00000479910.1, ENST00000621332.5
      Conserved Domains (2) summary
      cd15574
      Location:754
      PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
      cd15709
      Location:61185
      ePHD_AF17; Extended PHD finger found in protein AF-17 and similar proteins

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      38705273..38729795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      2740592..2765114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      39568358..39592880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)