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    Mllt6 myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6 [ Mus musculus (house mouse) ]

    Gene ID: 246198, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Mllt6provided by MGI
    Official Full Name
    myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6provided by MGI
    Primary source
    MGI:MGI:1935145
    See related
    Ensembl:ENSMUSG00000038437 AllianceGenome:MGI:1935145
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Af17
    Summary
    Predicted to enable histone binding activity and nucleosome binding activity. Acts upstream of or within several processes, including renal potassium excretion; renal sodium excretion; and renal water absorption. Predicted to be active in nucleus. Is expressed in several structures, including early conceptus; forelimb bud; genitourinary system; nervous system; and sensory organ. Orthologous to human MLLT6 (MLLT6, PHD finger containing). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen adult (RPKM 32.0), lung adult (RPKM 28.2) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mllt6 in Genome Data Viewer
    Location:
    11 D; 11 61.05 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (97553948..97576287)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (97663122..97685461)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8449 Neighboring gene STARR-seq mESC enhancer starr_30626 Neighboring gene elongin BC and polycomb repressive complex 2 associated protein Neighboring gene predicted gene 11613 Neighboring gene STARR-positive B cell enhancer ABC_E3996 Neighboring gene STARR-seq mESC enhancer starr_30629 Neighboring gene microRNA 6927 Neighboring gene STARR-positive B cell enhancer ABC_E7050 Neighboring gene CDGSH iron sulfur domain 3 Neighboring gene polycomb group ring finger 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Af17 deficiency increases sodium excretion and decreases blood pressure. Chen L, et al. J Am Soc Nephrol, 2011 Jun. PMID 21546577, Free PMC Article
    2. Widely expressed Af17 is likely not required for embryogenesis, hematopoiesis, and animal survival. Zhang Z, et al. Genesis, 2010 Dec. PMID 21170927, Free PMC Article
    3. AF17 facilitates Dot1a nuclear export and upregulates ENaC-mediated Na+ transport in renal collecting duct cells. Wu H, et al. PLoS One, 2011. PMID 22087315, Free PMC Article
    4. AF17 competes with AF9 for binding to Dot1a to up-regulate transcription of epithelial Na+ channel alpha. Reisenauer MR, et al. J Biol Chem, 2009 Dec 18. PMID 19864429, Free PMC Article
    5. Mutagenic transgene insertion into a region of high gene density and multiple linkage disruptions on mouse chromosome 11. Kleiter N, et al. Cytogenet Genome Res, 2002. PMID 12438746

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AF17 promotes Dot1a nuclear export and upregulates basal, but not aldosterone-stimulated ENaC expression, leading to an increase in ENaC-mediated Na(+) transport in renal collecting duct cells
      Title: AF17 facilitates Dot1a nuclear export and upregulates ENaC-mediated Na+ transport in renal collecting duct cells.
    2. Af17 deficiency increases sodium excretion and decreases blood pressure. Af17 ss a potential locus for the maintenance of sodium and blood pressure homeostasis.
      Title: Af17 deficiency increases sodium excretion and decreases blood pressure.
    3. Af17 may be dispensable for normal embryogenesis, hematopoiesis, and animal survival.
      Title: Widely expressed Af17 is likely not required for embryogenesis, hematopoiesis, and animal survival.
    4. AF17 competes with AF9 to bind Dot1a, decreases Dot1a nuclear expression by possibly facilitating its nuclear export, and relieves Dot1a.AF9-mediated repression of alpha-ENaC and other target genes.
      Title: AF17 competes with AF9 for binding to Dot1a to up-regulate transcription of epithelial Na+ channel alpha.
    5. located within a 185-kb contig surrounding a transgene on chromosome 11
      Title: Mutagenic transgene insertion into a region of high gene density and multiple linkage disruptions on mouse chromosome 11.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleosome binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within chromatin organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of urine volume IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of sodium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within renal potassium excretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within renal sodium excretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within renal system process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within renal water absorption IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein AF-17
    Names
    myeloid/lymphoid or mixed lineage-leukemia translocation to 6 homolog
    myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6

    NCBI Reference Sequences (RefSeq)

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    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_139311.3 → NP_647472.2  protein AF-17

      See identical proteins and their annotated locations for NP_647472.2

      Status: VALIDATED

      Source sequence(s)
      AL596123
      Consensus CDS
      CCDS25323.1
      UniProtKB/TrEMBL
      B1AR09, Q8VHB4
      Related
      ENSMUSP00000045445.6, ENSMUST00000044730.12
      Conserved Domains (2) summary
      cd15574
      Location:7 → 54
      PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
      cd15709
      Location:61 → 185
      ePHD_AF17; Extended PHD finger found in protein AF-17 and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      97553948..97576287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006533332.3 → XP_006533395.1  protein AF-17 isoform X1

      UniProtKB/TrEMBL
      B1AR10, Q8VHB4
      Related
      ENSMUSP00000103212.3, ENSMUST00000107586.3
      Conserved Domains (4) summary
      cd15574
      Location:7 → 54
      PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
      cd15709
      Location:61 → 185
      ePHD_AF17; Extended PHD finger found in protein AF-17 and similar proteins
      pfam10500
      Location:229 → 329
      SR-25; Nuclear RNA-splicing-associated protein
      cl23880
      Location:737 → 763
      HALZ; Homeobox associated leucine zipper

    2. XM_006533335.3 → XP_006533398.1  protein AF-17 isoform X3

      Conserved Domains (4) summary
      cd15574
      Location:7 → 54
      PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
      cd15709
      Location:61 → 185
      ePHD_AF17; Extended PHD finger found in protein AF-17 and similar proteins
      pfam10500
      Location:229 → 329
      SR-25; Nuclear RNA-splicing-associated protein
      cl23880
      Location:737 → 763
      HALZ; Homeobox associated leucine zipper

    3. XM_006533333.3 → XP_006533396.1  protein AF-17 isoform X2

      UniProtKB/TrEMBL
      Q8VHB4
      Conserved Domains (4) summary
      cd15574
      Location:7 → 54
      PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
      cd15709
      Location:61 → 184
      ePHD_AF17; Extended PHD finger found in protein AF-17 and similar proteins
      pfam10500
      Location:228 → 328
      SR-25; Nuclear RNA-splicing-associated protein
      cl23880
      Location:736 → 762
      HALZ; Homeobox associated leucine zipper

    4. XM_036156705.1 → XP_036012598.1  protein AF-17 isoform X4

      Conserved Domains (3) summary
      cd15574
      Location:7 → 54
      PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
      cd15709
      Location:61 → 185
      ePHD_AF17; Extended PHD finger found in protein AF-17 and similar proteins
      cd20901
      Location:719 → 773
      CC_AF10; coiled coil domain of ALL1-Fused gene from chromosome 10 protein (AF10) and similar proteins
    Nucleotide Protein Strain
    Heading Accession and Version

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