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    Sf3b1 splicing factor 3b, subunit 1 [ Mus musculus (house mouse) ]

    Gene ID: 81898, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Sf3b1provided by MGI
    Official Full Name
    splicing factor 3b, subunit 1provided by MGI
    Primary source
    MGI:MGI:1932339
    See related
    Ensembl:ENSMUSG00000025982 AllianceGenome:MGI:1932339
    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
    TA-8; Prp10; Targ4; 155kDa; SAP155; SF3b155; 2810001M05Rik
    Summary
    Enables chromatin binding activity. Acts upstream of or within anterior/posterior pattern specification; blastocyst formation; and mRNA splicing, via spliceosome. Located in chromatin and nuclear matrix. Part of small nuclear ribonucleoprotein complex. Is expressed in several structures, including central nervous system; endocrine gland; genitourinary system; hemolymphoid system gland; and sensory organ. Used to study myelodysplastic syndrome. Human ortholog(s) of this gene implicated in hepatocellular carcinoma and myelodysplastic syndrome. Orthologous to human SF3B1 (splicing factor 3b subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E14 (RPKM 50.4), CNS E11.5 (RPKM 49.8) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sf3b1 in Genome Data Viewer
    Location:
    1 C1.2; 1 27.98 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (55024328..55066660, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (54985169..55027501, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_00937 Neighboring gene predicted gene, 19637 Neighboring gene RIKEN cDNA 4930444A19 gene Neighboring gene ankyrin repeat domain 44 Neighboring gene STARR-seq mESC enhancer starr_00938 Neighboring gene STARR-positive B cell enhancer ABC_E4315 Neighboring gene STARR-positive B cell enhancer mm9_chr1:54898672-54898972 Neighboring gene STARR-seq mESC enhancer starr_00940 Neighboring gene STARR-positive B cell enhancer ABC_E11069 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:54970246-54970399 Neighboring gene STARR-positive B cell enhancer ABC_E11070 Neighboring gene STARR-seq mESC enhancer starr_00941 Neighboring gene STARR-seq mESC enhancer starr_00942 Neighboring gene STARR-seq mESC enhancer starr_00943 Neighboring gene STARR-positive B cell enhancer ABC_E7728 Neighboring gene coenzyme Q10B Neighboring gene ribosomal protein S2 pseudogene Neighboring gene heat shock protein 1 (chaperonin) Neighboring gene heat shock protein 1 (chaperonin 10)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Altered RNA export by SF3B1 mutants confers sensitivity to nuclear export inhibition. Chaudhry S, et al. Leukemia, 2024 Sep. PMID 38997434, Free PMC Article
    2. Haploinsufficiency of Sf3b1 leads to compromised stem cell function but not to myelodysplasia. Matsunawa M, et al. Leukemia, 2014 Sep. PMID 24535406
    3. Depletion of Sf3b1 impairs proliferative capacity of hematopoietic stem cells but is not sufficient to induce myelodysplasia. Wang C, et al. Blood, 2014 May 22. PMID 24735968
    4. Splicing factor 3b subunit 1 (Sf3b1) haploinsufficient mice display features of low risk Myelodysplastic syndromes with ring sideroblasts. Visconte V, et al. J Hematol Oncol, 2014 Dec 7. PMID 25481243, Free PMC Article
    5. U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing. Choi N, et al. Cells, 2020 Dec 9. PMID 33317029, Free PMC Article

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GPATCH8 modulates mutant SF3B1 mis-splicing and pathogenicity in hematologic malignancies.
      Title: GPATCH8 modulates mutant SF3B1 mis-splicing and pathogenicity in hematologic malignancies.
    2. Transcription elongation defects link oncogenic SF3B1 mutations to targetable alterations in chromatin landscape.
      Title: Transcription elongation defects link oncogenic SF3B1 mutations to targetable alterations in chromatin landscape.
    3. Mutant SF3B1 promotes malignancy in PDAC.
      Title: Mutant SF3B1 promotes malignancy in PDAC.
    4. SF3B1 facilitates HIF1-signaling and promotes malignancy in pancreatic cancer.
      Title: SF3B1 facilitates HIF1-signaling and promotes malignancy in pancreatic cancer.
    5. Modulation of SF3B1 in the pre-mRNA spliceosome induces a RIG-I-dependent type I IFN response.
      Title: Modulation of SF3B1 in the pre-mRNA spliceosome induces a RIG-I-dependent type I IFN response.
    6. Mutant SF3B1 promotes AKT- and NF-kappaB-driven mammary tumorigenesis.
      Title: Mutant SF3B1 promotes AKT- and NF-κB-driven mammary tumorigenesis.
    7. U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing.
      Title: U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing.
    8. Conditional expression of Sf3b1-K700E mutation in mouse B cells disrupts pre-mRNA splicing, alters cell development, and induces a state of cellular senescence. Combination with Atm deletion leads to the overcoming of cellular senescence and the development of chronic lymphocytic leukemia.
      Title: A Murine Model of Chronic Lymphocytic Leukemia Based on B Cell-Restricted Expression of Sf3b1 Mutation and Atm Deletion.
    9. Our findings demonstrate that, despite significant differences in affected transcripts, there is overlap in the phenotypes associated with SF3B1-K700E between human and mouse.
      Title: Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts.
    10. Sf3b1(K700E) mice develop macrocytic anemia due to a terminal erythroid maturation defect, erythroid dysplasia, and long-term hematopoietic stem cell (LT-HSC) expansion.
      Title: Physiologic Expression of Sf3b1(K700E) Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (4)  1 citation

    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables splicing factor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within anterior/posterior pattern specification IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within blastocyst formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromatin remodeling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mRNA splicing, via spliceosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase I NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase III ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in spliceosomal complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spliceosomal complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of B-WICH complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of U11/U12 snRNP ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    part_of U12-type spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U12-type spliceosomal complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of U2 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2 snRNP ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    part_of U2-type precatalytic spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of U2-type prespliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2-type spliceosomal complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of U2-type spliceosomal complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catalytic step 2 spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    part_of small nuclear ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    splicing factor 3B subunit 1
    Names
    SAP 155
    pre-mRNA-splicing factor SF3b 155 kDa subunit
    spliceosome-associated protein 155
    splicing factor 3b, subunit 1, 155 kDa
    transforming growth factor alpha regulated gene 4

    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_031179.2 → NP_112456.2  splicing factor 3B subunit 1

      See identical proteins and their annotated locations for NP_112456.2

      Status: VALIDATED

      Source sequence(s)
      AK048521, AK077993, AK087700, AK140982, CF952155, CK331410, CN526934
      Consensus CDS
      CCDS35567.1
      UniProtKB/Swiss-Prot
      Q99NB9, Q9CSK5
      UniProtKB/TrEMBL
      G5E866
      Related
      ENSMUSP00000027127.8, ENSMUST00000027127.14
      Conserved Domains (4) summary
      smart01104
      Location:241 → 382
      CTD; Spt5 C-terminal nonapeptide repeat binding Spt4
      COG5181
      Location:446 → 1304
      HSH155; U2 snRNP spliceosome subunit [RNA processing and modification]
      sd00044
      Location:850 → 874
      HEAT; HEAT repeat [structural motif]
      pfam08920
      Location:332 → 442
      SF3b1; Splicing factor 3B subunit 1

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      55024328..55066660 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036154455.1 → XP_036010348.1  splicing factor 3B subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      Q99NB9, Q9CSK5
      Conserved Domains (4) summary
      smart01104
      Location:95 → 236
      CTD; Spt5 C-terminal nonapeptide repeat binding Spt4
      COG5181
      Location:300 → 1158
      HSH155; U2 snRNP spliceosome subunit [RNA processing and modification]
      sd00044
      Location:704 → 728
      HEAT; HEAT repeat [structural motif]
      pfam08920
      Location:186 → 296
      SF3b1; Splicing factor 3B subunit 1

    2. XM_036154457.1 → XP_036010350.1  splicing factor 3B subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      Q99NB9, Q9CSK5
      Conserved Domains (4) summary
      smart01104
      Location:95 → 236
      CTD; Spt5 C-terminal nonapeptide repeat binding Spt4
      COG5181
      Location:300 → 1158
      HSH155; U2 snRNP spliceosome subunit [RNA processing and modification]
      sd00044
      Location:704 → 728
      HEAT; HEAT repeat [structural motif]
      pfam08920
      Location:186 → 296
      SF3b1; Splicing factor 3B subunit 1

    RNA

    1. XR_003947333.1 RNA Sequence

    2. XR_003947332.1 RNA Sequence

      Related
      ENSMUST00000187500.7
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99NB9.1 GenPept UniProtKB/Swiss-Prot:Q99NB9

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
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