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

Gene ID: 17355, updated on 18-Apr-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
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Genomic context

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 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)

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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_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
  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