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    U2af1 U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1 [ Mus musculus (house mouse) ]

    Gene ID: 108121, updated on 12-May-2024

    Summary

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    Official Symbol
    U2af1provided by MGI
    Official Full Name
    U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1provided by MGI
    Primary source
    MGI:MGI:98884
    See related
    Ensembl:ENSMUSG00000061613 AllianceGenome:MGI:98884
    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
    2010107D16Rik
    Summary
    Enables RS domain binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to act upstream of or within RNA splicing and mRNA processing. Located in nuclear speck. Is expressed in several structures, including genitourinary system; gut; nervous system; sensory organ; and skeleton. Orthologous to human U2AF1 (U2 small nuclear RNA auxiliary factor 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E11.5 (RPKM 119.0), placenta adult (RPKM 69.8) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    17 B1; 17 17.02 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (31866055..31878122, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (31647081..31659148, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_42343 Neighboring gene cystathionine beta-synthase Neighboring gene STARR-seq mESC enhancer starr_42345 Neighboring gene ribosomal protein S2, pseudogene 8 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:31795932-31796115 Neighboring gene crystallin, alpha A Neighboring gene predicted gene, 30187

    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. Impact of U2AF1 mutations on circular RNA expression in myelodysplastic neoplasms. Wedge E, et al. Leukemia, 2023 May. PMID 36922625
    2. Mutant U2AF1-induced differential alternative splicing causes an oxidative stress in bone marrow stromal cells. Liu Z, et al. Exp Biol Med (Maywood), 2021 Aug. PMID 34034558, Free PMC Article
    3. U2af1 is required for survival and function of hematopoietic stem/progenitor cells. Dutta A, et al. Leukemia, 2021 Aug. PMID 33414485, Free PMC Article
    4. Aberrant Alternative Splicing in U2af1/Tet2 Double Mutant Mice Contributes to Major Hematological Phenotypes. Martínez-Valiente C, et al. Int J Mol Sci, 2021 Jun 28. PMID 34203454, Free PMC Article
    5. Dosage of the Abcg1-U2af1 region modifies locomotor and cognitive deficits observed in the Tc1 mouse model of Down syndrome. Marechal D, et al. PLoS One, 2015. PMID 25706610, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Myelodysplastic neoplasm-associated U2AF1 mutations induce host defense defects by compromising neutrophil chemotaxis.
      Title: Myelodysplastic neoplasm-associated U2AF1 mutations induce host defense defects by compromising neutrophil chemotaxis.
    2. Impact of U2AF1 mutations on circular RNA expression in myelodysplastic neoplasms.
      Title: Impact of U2AF1 mutations on circular RNA expression in myelodysplastic neoplasms.
    3. Mutant U2AF1-induced alternative splicing of H2afy (macroH2A1) regulates B-lymphopoiesis in mice.
      Title: Mutant U2AF1-induced alternative splicing of H2afy (macroH2A1) regulates B-lymphopoiesis in mice.
    4. U2af1 is a haplo-essential gene required for hematopoietic cancer cell survival in mice.
      Title: U2af1 is a haplo-essential gene required for hematopoietic cancer cell survival in mice.
    5. Mutant U2AF1-induced differential alternative splicing causes an oxidative stress in bone marrow stromal cells.
      Title: Mutant U2AF1-induced differential alternative splicing causes an oxidative stress in bone marrow stromal cells.
    6. U2af1 is required for survival and function of hematopoietic stem/progenitor cells.
      Title: U2af1 is required for survival and function of hematopoietic stem/progenitor cells.
    7. These findings unveil distinct roles of duplicated tandem exon-derived U2AF1 isoforms in the regulation of the transcriptome and suggest U2AF1a-driven 5'-UTR alternative splicing as a molecular mechanism of mTOR-regulated translational control.
      Title: mTOR-regulated U2af1 tandem exon splicing specifies transcriptome features for translational control.
    8. The U2AF35(S34F) mutation alters interaction with CFIm59, leading to increased use of a distal cleavage and polyadenylation site in the ATG7 pre-mRNA, decreasing levels of ATG7 protein and defective autophagy, ultimately leading to transformation.
      Title: U2AF35(S34F) Promotes Transformation by Directing Aberrant ATG7 Pre-mRNA 3' End Formation.
    9. data support the impact of genes from the Abcg1-U2af1 region as modifiers of Tc1-dependent memory and locomotor phenotypes in Tc1 mouse model of Down syndrome.
      Title: Dosage of the Abcg1-U2af1 region modifies locomotor and cognitive deficits observed in the Tc1 mouse model of Down syndrome.
    10. findings support the hypothesis that mutant U2AF1 alters downstream gene isoform expression, thereby contributing to abnormal hematopoiesis in patients with MDS
      Title: Mutant U2AF1 Expression Alters Hematopoiesis and Pre-mRNA Splicing In Vivo.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Variation

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    Alleles

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

    Pathways from PubChem

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    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 RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RS domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables pre-mRNA 3'-splice site binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of U2AF complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2AF complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of catalytic step 2 spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of spliceosomal complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    splicing factor U2AF 35 kDa subunit
    Names
    U2 auxiliary factor 35 kDa subunit
    U2 snRNP auxiliary factor small subunit

    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_001163769.1 → NP_001157241.1  splicing factor U2AF 35 kDa subunit isoform 2

      See identical proteins and their annotated locations for NP_001157241.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon but contains another compared to variant 1. Variants 1 and 2 are the same length, as are isoforms 1 and 2; however, their sequences vary slightly.
      Source sequence(s)
      AK150872, AV453783
      Consensus CDS
      CCDS50055.1
      UniProtKB/TrEMBL
      G3UW94
      Related
      ENSMUSP00000129864.2, ENSMUST00000166526.9
      Conserved Domains (2) summary
      pfam00642
      Location:149 → 175
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      cd12538
      Location:43 → 146
      RRM_U2AF35; RNA recognition motif (RRM) found in U2 small nuclear ribonucleoprotein auxiliary factor U2AF 35 kDa subunit (U2AF35)

    2. NM_001357907.1 → NP_001344836.1  splicing factor U2AF 35 kDa subunit isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC090881, BC069888
      Conserved Domains (2) summary
      pfam00642
      Location:76 → 102
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      cl17169
      Location:1 → 73
      RRM_SF; RNA recognition motif (RRM) superfamily

    3. NM_024187.4 → NP_077149.2  splicing factor U2AF 35 kDa subunit isoform 1

      See identical proteins and their annotated locations for NP_077149.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 2 are the same length, as are isoforms 1 and 2; however, their sequences vary slightly.
      Source sequence(s)
      AK150872
      Consensus CDS
      CCDS28611.1
      UniProtKB/Swiss-Prot
      Q564E4, Q99LX2, Q9CZ98, Q9D883
      UniProtKB/TrEMBL
      Q14C24
      Related
      ENSMUSP00000014684.5, ENSMUST00000014684.6
      Conserved Domains (2) summary
      pfam00642
      Location:149 → 175
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      cd12538
      Location:43 → 146
      RRM_U2AF35; RNA recognition motif (RRM) found in U2 small nuclear ribonucleoprotein auxiliary factor U2AF 35 kDa subunit (U2AF35)

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      31866055..31878122 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030249444.1 → XP_030105304.1  splicing factor U2AF 35 kDa subunit isoform X1

      Conserved Domains (2) summary
      pfam00642
      Location:76 → 102
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      cl17169
      Location:1 → 73
      RRM_SF; RNA recognition motif (RRM) superfamily

    2. XM_006523472.3 → XP_006523535.1  splicing factor U2AF 35 kDa subunit isoform X1

      See identical proteins and their annotated locations for XP_006523535.1

      Conserved Domains (2) summary
      pfam00642
      Location:76 → 102
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      cl17169
      Location:1 → 73
      RRM_SF; RNA recognition motif (RRM) superfamily
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D883.4 GenPept UniProtKB/Swiss-Prot:Q9D883

    Gene LinkOut

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