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

    Gene ID: 17355, updated on 16-Oct-2021

    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
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    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; AW319193; 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
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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
    109 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (103840256..104003188)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (103692362..103855322)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 5 NC_000071.5 (104183181..104284341)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700016H13 gene Neighboring gene predicted gene, 42138 Neighboring gene predicted gene, 25721 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

    Homology

    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
    PubMed 
    part_of transcription elongation factor complex ISO
    Inferred from Sequence Orthology
    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_001080798.2NP_001074267.1  AF4/FMR2 family member 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AA139222, AI836732, AK139900, AK143742, BC131665, BQ554270, CA528058, CD543840, CF727488, CV559177, DV649355, DV654133, EL607205
      Consensus CDS
      CCDS39189.1
      UniProtKB/TrEMBL
      A3KMF4, E9Q921, Q3UP77
      Related
      ENSMUSP00000031256.6, ENSMUST00000031256.6
      Conserved Domains (1) summary
      pfam05110
      Location:171221
      AF-4; AF-4 proto-oncoprotein
    2. NM_133919.4NP_598680.3  AF4/FMR2 family member 1 isoform 2

      See identical proteins and their annotated locations for NP_598680.3

      Status: REVIEWED

      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)
      AA139222, AI836732, AK139900, AK142554, BC131665, BQ554270, CA528058, CF727488, CV559177, DV649355, DV654133, EL607205
      Consensus CDS
      CCDS39188.1
      UniProtKB/TrEMBL
      A3KMF4, Q3UQD9
      Related
      ENSMUSP00000059744.4, ENSMUST00000054979.10
      Conserved Domains (1) summary
      pfam05110
      Location:91213
      AF-4; AF-4 proto-oncoprotein

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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
      103840256..104003188
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006534801.5XP_006534864.1  AF4/FMR2 family member 1 isoform X1

      Conserved Domains (1) summary
      pfam05110
      Location:131217
      AF-4; AF-4 proto-oncoprotein
    2. XM_036164846.1XP_036020739.1  AF4/FMR2 family member 1 isoform X2

      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
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