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    Aff1 AF4/FMR2 family, member 1 [ Mus musculus (house mouse) ]

    Gene ID: 17355, updated on 3-Dec-2024

    Summary

    Official Symbol
    Aff1provided by MGI
    Official Full Name
    AF4/FMR2 family, member 1provided by MGI
    Primary source
    MGI:MGI:1100819
    See related
    Ensembl:ENSMUSG00000029313 AllianceGenome:MGI:1100819
    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
    Af4; Rob; Mllt2h; 9630032B01Rik
    Summary
    This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. Knockout of the mouse gene by homologous recombination severely affects early events in lymphopoiesis, including precursor proliferation or recruitment, but is dispensable for terminal differentiation. In addition, an autosomal dominant missense mutation results in several phenotypes including ataxia and adult-onset Purkinje cell loss in the cerebellum, indicating a role in Purkinje cell maintenance and function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in thymus adult (RPKM 11.6), lung adult (RPKM 6.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Aff1 in Genome Data Viewer
    Location:
    5 E5; 5 50.45 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (103840307..104003188)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (103692362..103855322)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700016H13 gene Neighboring gene STARR-seq mESC enhancer starr_13780 Neighboring gene predicted gene, 42138 Neighboring gene predicted gene, 25721 Neighboring gene STARR-positive B cell enhancer ABC_E3590 Neighboring gene STARR-positive B cell enhancer mm9_chr5:104121192-104121493 Neighboring gene STARR-positive B cell enhancer ABC_E3591 Neighboring gene STARR-seq mESC enhancer starr_13785 Neighboring gene STARR-seq mESC enhancer starr_13786 Neighboring gene STARR-positive B cell enhancer ABC_E10335 Neighboring gene STARR-positive B cell enhancer ABC_E8066 Neighboring gene STARR-seq mESC enhancer starr_13791 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:104155653-104155892 Neighboring gene STARR-seq mESC enhancer starr_13794 Neighboring gene STARR-positive B cell enhancer ABC_E2755 Neighboring gene STARR-positive B cell enhancer ABC_E9258 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:104185304-104185591 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:104189527-104189796 Neighboring gene STARR-seq mESC enhancer starr_13808 Neighboring gene kelch-like 8 Neighboring gene predicted gene, 42139 Neighboring gene predicted gene, 24897

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of super elongation complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of transcription elongation factor complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of transcription elongation factor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    AF4/FMR2 family member 1
    Names
    homolog of human MLLT2 unidentified
    myeloid/lymphoid or mixed-lineage leukemia translocated to 2 homolog
    protein AF-4
    proto-oncogene AF4
    robotic

    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_001080798.3NP_001074267.1  AF4/FMR2 family member 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL713989, AL731554
      Consensus CDS
      CCDS39189.1
      UniProtKB/TrEMBL
      E9Q921, Q5XM34
      Related
      ENSMUSP00000031256.6, ENSMUST00000031256.6
      Conserved Domains (1) summary
      pfam05110
      Location:171221
      AF-4; AF-4 proto-oncoprotein
    2. NM_001408251.1NP_001395180.1  AF4/FMR2 family member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL713989, AL731554
      UniProtKB/TrEMBL
      Q5XM34
    3. NM_133919.5NP_598680.3  AF4/FMR2 family member 1 isoform 2

      See identical proteins and their annotated locations for NP_598680.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5'-terminal exon, which results in a different 5' UTR and use of an alternate start codon. It encodes isoform 2, which has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AL713989, AL731554
      Consensus CDS
      CCDS39188.1
      UniProtKB/TrEMBL
      A3KMF4, Q5XM34
      Related
      ENSMUSP00000059744.4, ENSMUST00000054979.10
      Conserved Domains (1) summary
      pfam05110
      Location:91213
      AF-4; AF-4 proto-oncoprotein

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      103840307..104003188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036164846.1XP_036020739.1  AF4/FMR2 family member 1 isoform X2

      UniProtKB/TrEMBL
      Q5XM34
      Conserved Domains (3) summary
      PHA03247
      Location:350687
      PHA03247; large tegument protein UL36; Provisional
      pfam05110
      Location:4503
      AF-4; AF-4 proto-oncoprotein
      pfam18876
      Location:9531214
      AF-4_C; AF-4 proto-oncoprotein C-terminal region