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

Gene ID: 246198, updated on 5-Mar-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 negative regulation of histone H3-K79 methylation; renal potassium excretion; and renal sodium excretion. 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, Apr 2022]
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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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
  • 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 (27) 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)
  • Gene trapped (1) 
  • Endonuclease-mediated (2) 

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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