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

Summary

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, Nov 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

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_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GPATCH8 modulates mutant SF3B1 mis-splicing and pathogenicity in hematologic malignancies.
Title: GPATCH8 modulates mutant SF3B1 mis-splicing and pathogenicity in hematologic malignancies.
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.
Mutant SF3B1 promotes malignancy in PDAC.
Title: Mutant SF3B1 promotes malignancy in PDAC.
SF3B1 facilitates HIF1-signaling and promotes malignancy in pancreatic cancer.
Title: SF3B1 facilitates HIF1-signaling and promotes malignancy in pancreatic cancer.
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.
Mutant SF3B1 promotes AKT- and NF-kappaB-driven mammary tumorigenesis.
Title: Mutant SF3B1 promotes AKT- and NF-κB-driven mammary tumorigenesis.
U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing.
Title: U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing.
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.
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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sf3b1 (e-PCR), detects polymorphism
- UniSTS:226068

Sf3b1 (e-PCR), detects polymorphism
- UniSTS:479258

AW990637 (e-PCR)
- UniSTS:207157

RH124824 (e-PCR)
- UniSTS:161646

SF3B1-1 (e-PCR)
- UniSTS:513652

A006O45 (e-PCR)
- UniSTS:57033

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)

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

NC_000067.7 Reference GRCm39 C57BL/6J

Range

55024328..55066660 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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