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

Gene ID: 108121, updated on 28-Oct-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. Located in nuclear speck. Is expressed in several structures, including central nervous system; genitourinary system; peripheral nervous system; sensory organ; and skeleton. Orthologous to human U2AF1 (U2 small nuclear RNA auxiliary factor 1). [provided by Alliance of Genome Resources, Oct 2024]
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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See U2af1 in Genome Data Viewer
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 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. 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
  5. A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome. Pereira PL, et al. Hum Mol Genet, 2009 Dec 15. PMID 19783846, Free PMC Article

See all (50) 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 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
involved_in mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of U2AF complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of U2AF complex IEA
Inferred from Electronic Annotation
more info
  
part_of U2AF complex ISO
Inferred from Sequence Orthology
more info
  
part_of catalytic step 2 spliceosome IEA
Inferred from Electronic Annotation
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
  
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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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