SF3B5
Splicing Factor 3b Subunit 5
Gene Information Card
| Symbol | SF3B5 |
|---|---|
| Full Name | Splicing Factor 3b Subunit 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q24.2 |
| NCBI Gene ID | 83443 ncbi.nlm.nih.gov/gene/83443 |
| Ensembl ID | ENSG00000169976 |
| UniProt ID | Q9BWJ5 |
| OMIM ID | 617835 |
| HGNC ID | 21071 |
| Aliases | SF3B10, PRP10, SAP155 |
Description
SF3B5 encodes a subunit of the splicing factor 3b complex, which is part of the U2 snRNP involved in pre-mRNA splicing. The protein is essential for spliceosome assembly and function, particularly in the recognition of the branch point during splicing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myelodysplastic syndromes | SF3B5 mutations may alter splicing fidelity, contributing to dysregulated hematopoiesis | COSMIC, ClinVar |
| Acute myeloid leukemia | Recurrent SF3B5 mutations found in AML patients, potentially affecting RNA splicing | COSMIC, ClinVar |
| Chronic lymphocytic leukemia | SF3B5 mutations observed in CLL, linked to aberrant splicing of key genes | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Lymph node | 10.5 | Medium |
| Spleen | 9.3 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 18.5 | Leukemia cell line |
| HEK293 | 14.2 | Embryonic kidney |
| HeLa | 12.0 | Cervical carcinoma |
| MCF7 | 8.7 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.125A>G (p.Asn42Ser) | Missense | <0.1% | Altered splicing activity |
| c.208C>T (p.Arg70Trp) | Missense | <0.1% | Potential loss of function |
| c.301G>A (p.Gly101Arg) | Missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Missense mutations may impair SF3B5 incorporation into the splicing complex, reducing splicing efficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing via spliceosome | • RNA binding |
| • U2 snRNP | • spliceosomal complex |
Pathways
• mRNA Splicing - Major Pathway
• Spliceosome
Protein Summary
SF3B5 is a 86-amino acid protein that forms part of the SF3b complex. It interacts with other SF3b subunits to stabilize the U2 snRNP and facilitate branch point recognition. The protein is highly conserved and ubiquitously expressed, with highest levels in testis and hematopoietic tissues.
Related Services
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|---|---|---|---|---|
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