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

Gene ID: 81898, updated on 11-Apr-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 U2 snRNP. Is expressed in several structures, including central nervous system; endocrine gland; genitourinary system; hemolymphoid system gland; and sensory organ. 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, Apr 2022]
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

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. U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing. Choi N, et al. Cells, 2020 Dec 9. PMID 33317029, Free PMC Article
  2. 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
  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. Haploinsufficiency of Sf3b1 leads to compromised stem cell function but not to myelodysplasia. Matsunawa M, et al. Leukemia, 2014 Sep. PMID 24535406
  5. Aberrant EVI1 splicing contributes to EVI1-rearranged leukemia. Tanaka A, et al. Blood, 2022 Aug 25. PMID 35709354, Free PMC Article

See all (63) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutant SF3B1 promotes malignancy in PDAC.
    Title: Mutant SF3B1 promotes malignancy in PDAC.
  2. SF3B1 facilitates HIF1-signaling and promotes malignancy in pancreatic cancer.
    Title: SF3B1 facilitates HIF1-signaling and promotes malignancy in pancreatic cancer.
  3. 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.
  4. Mutant SF3B1 promotes AKT- and NF-kappaB-driven mammary tumorigenesis.
    Title: Mutant SF3B1 promotes AKT- and NF-κB-driven mammary tumorigenesis.
  5. U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing.
    Title: U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing.
  6. 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.
  7. 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.
  8. 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.
  9. myocardial hypoxia actuates fructose metabolism in human and mouse models of pathological cardiac hypertrophy through hypoxia-inducible factor 1alpha (HIF1alpha) activation of SF3B1 and SF3B1-mediated splice switching of KHK-A to KHK-C
    Title: HIF-driven SF3B1 induces KHK-C to enforce fructolysis and heart disease.
  10. Sf3b1 isrequired for the blastocyst formation.
    Title: Identification of four genes required for mammalian blastocyst formation.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

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

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 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 RNA splicing IEA
Inferred from Electronic Annotation
more info
  
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 processing IEA
Inferred from Electronic Annotation
more info
  
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 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
  
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 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
  
part_of 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 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 
part_of spliceosomal complex IEA
Inferred from Electronic Annotation
more info
  

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

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