SF3B3
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Also known as SAP130SF3b130RSE1KIAA0017
Summary
SF3B3 (splicing factor 3b subunit 3, HGNC:10770) is a protein-coding gene on chromosome 16q22.1, encoding Splicing factor 3B subunit 3 (Q15393). Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs. It is a common-essential gene (DepMap: required in 99.9% of cancer cell lines).
This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron’s branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair.
Source: NCBI Gene 23450 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 238 total — 1 likely-pathogenic
- Druggable target: yes — 3 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_012426
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10770 |
| Approved symbol | SF3B3 |
| Name | splicing factor 3b subunit 3 |
| Location | 16q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SAP130, SF3b130, RSE1, KIAA0017 |
| Ensembl gene | ENSG00000189091 |
| Ensembl biotype | protein_coding |
| OMIM | 605592 |
| Entrez | 23450 |
Gene structure
Transcript identifiers
Ensembl transcripts: 38 — 29 protein_coding, 7 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000302516, ENST00000562722, ENST00000562874, ENST00000563739, ENST00000564899, ENST00000565990, ENST00000566095, ENST00000567250, ENST00000567635, ENST00000567654, ENST00000568291, ENST00000568539, ENST00000569687, ENST00000572365, ENST00000577085, ENST00000909657, ENST00000909658, ENST00000909659, ENST00000909660, ENST00000909661, ENST00000909662, ENST00000909663, ENST00000909664, ENST00000909665, ENST00000909666, ENST00000918229, ENST00000918230, ENST00000918231, ENST00000918232, ENST00000918233, ENST00000918234, ENST00000918235, ENST00000918236, ENST00000918237, ENST00000918238, ENST00000950010, ENST00000950011, ENST00000950012
RefSeq mRNA: 1 — MANE Select: NM_012426
NM_012426
CCDS: CCDS10894
Canonical transcript exons
ENST00000302516 — 26 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001201829 | 70570006 | 70570149 |
| ENSE00001201835 | 70569043 | 70569141 |
| ENSE00001201840 | 70568283 | 70568495 |
| ENSE00001201844 | 70567411 | 70567536 |
| ENSE00001201865 | 70560469 | 70560591 |
| ENSE00001298396 | 70526587 | 70526726 |
| ENSE00001318529 | 70528873 | 70529199 |
| ENSE00001326124 | 70532479 | 70532620 |
| ENSE00001328025 | 70530745 | 70530917 |
| ENSE00001340034 | 70571673 | 70577668 |
| ENSE00001404916 | 70538323 | 70538460 |
| ENSE00001423663 | 70548370 | 70548442 |
| ENSE00001425551 | 70535308 | 70535420 |
| ENSE00001516024 | 70523816 | 70523928 |
| ENSE00003499029 | 70539104 | 70539207 |
| ENSE00003511147 | 70554446 | 70554597 |
| ENSE00003524970 | 70556886 | 70557029 |
| ENSE00003600445 | 70541669 | 70541834 |
| ENSE00003602070 | 70561630 | 70561784 |
| ENSE00003613307 | 70565368 | 70565524 |
| ENSE00003613796 | 70565065 | 70565270 |
| ENSE00003632238 | 70555051 | 70555206 |
| ENSE00003643932 | 70563876 | 70564050 |
| ENSE00003644595 | 70571095 | 70571199 |
| ENSE00003649971 | 70556179 | 70556334 |
| ENSE00003673507 | 70544438 | 70544533 |
Expression profiles
Bgee: expression breadth ubiquitous, 296 present calls, max score 99.43.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 124.1998 / max 1154.9011, expressed in 1821 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154879 | 123.3904 | 1821 |
| 154888 | 0.5513 | 303 |
| 154878 | 0.1394 | 52 |
| 154884 | 0.0860 | 22 |
| 207934 | 0.0328 | 16 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 99.43 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.11 | gold quality |
| cortical plate | UBERON:0005343 | 98.86 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.43 | gold quality |
| left ovary | UBERON:0002119 | 98.33 | gold quality |
| adrenal tissue | UBERON:0018303 | 98.33 | gold quality |
| right ovary | UBERON:0002118 | 98.31 | gold quality |
| ectocervix | UBERON:0012249 | 98.30 | gold quality |
| skin of leg | UBERON:0001511 | 98.21 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.19 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.17 | gold quality |
| esophagus mucosa | UBERON:0002469 | 98.08 | gold quality |
| endocervix | UBERON:0000458 | 98.05 | gold quality |
| body of uterus | UBERON:0009853 | 98.00 | gold quality |
| colonic epithelium | UBERON:0000397 | 97.87 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.87 | gold quality |
| embryo | UBERON:0000922 | 97.75 | gold quality |
| right uterine tube | UBERON:0001302 | 97.69 | gold quality |
| peripheral nervous system | UBERON:0000010 | 97.60 | gold quality |
| tibial nerve | UBERON:0001323 | 97.60 | gold quality |
| esophagus | UBERON:0001043 | 97.51 | gold quality |
| minor salivary gland | UBERON:0001830 | 97.51 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.50 | gold quality |
| left uterine tube | UBERON:0001303 | 97.48 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.45 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.39 | gold quality |
| body of pancreas | UBERON:0001150 | 97.31 | gold quality |
| granulocyte | CL:0000094 | 97.20 | gold quality |
| mouth mucosa | UBERON:0003729 | 97.10 | gold quality |
| thyroid gland | UBERON:0002046 | 96.99 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.27 |
| E-MTAB-6678 | no | 3.13 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
191 targeting SF3B3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 7)
- our findings suggest a role for the elevated expression of SF3B3 in poor prognosis and tamoxifen resistance, leading to recurrence of estrogen receptor-positive breast cancer (PMID:25431237)
- Report detection of SF3B3 gene mutations in oral cancer using high resolution melting analysis. (PMID:25651737)
- These results suggest SF3B3 as a key regulator of EZH2 pre-mRNA splicing and SF3B3 may represent a novel prognostic factor and potential therapeutic target in clear cell renal cell carcinoma (PMID:27879367)
- SAP130 is a potential noninvasive biomarker that correlates well with Crohn’s disease severity. (PMID:31583714)
- Ambiguity about Splicing Factor 3b Subunit 3 (SF3B3) and Sin3A Associated Protein 130 (SAP130). (PMID:33800128)
- LINC01348 suppresses hepatocellular carcinoma metastasis through inhibition of SF3B3-mediated EZH2 pre-mRNA splicing. (PMID:34140643)
- SF3B3-regulated mTOR alternative splicing promotes colorectal cancer progression and metastasis. (PMID:38671459)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sf3b3 | ENSDARG00000103553 |
| mus_musculus | Sf3b3 | ENSMUSG00000033732 |
| rattus_norvegicus | Sf3b3 | ENSRNOG00000017724 |
| drosophila_melanogaster | Sf3b3 | FBGN0035162 |
| caenorhabditis_elegans | teg-4 | WBGENE00019323 |
Paralogs (2): CPSF1 (ENSG00000071894), DDB1 (ENSG00000167986)
Protein
Protein identifiers
Splicing factor 3B subunit 3 — Q15393 (reviewed: Q15393)
Alternative names: Pre-mRNA-splicing factor SF3b 130 kDa subunit, STAF130, Spliceosome-associated protein 130
All UniProt accessions (6): Q15393, H3BMB0, I3L4G7, J3QKV4, J3QL37, J3QRB2
UniProt curated annotations — full annotation on UniProt →
Function. Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs. The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing. Within the 17S U2 SnRNP complex, SF3B3 is part of the SF3B subcomplex, which is required for ‘A’ complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA. Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the ‘E’ complex. Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs.
Subunit / interactions. Component of the 17S U2 SnRNP complex, a ribonucleoprotein complex that contains small nuclear RNA (snRNA) U2 and a number of specific proteins. Part of the SF3B subcomplex of the 17S U2 SnRNP complex. SF3B associates with the splicing subcomplex SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Within the SF3B subcomplex, interacts directly with SF3B1 (via HEAT domain), SF3B5 and PHF5A. Identified in the spliceosome A complex; remains associated with the spliceosome throughout the splicing process. Component of the spliceosome B complex. Identified in the spliceosome C complex. Identified in the spliceosome E complex. Component of the minor (U12-type spliceosome) spliceosome. Within this complex, interacts with SCNM1. Associates with the STAGA transcription coactivator-HAT complex. Interacts with SUPT3H. Interacts with TAF3.
Subcellular location. Nucleus.
Domain organisation. The core of the protein consists of three beta-propeller domains.
Similarity. Belongs to the RSE1 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15393-1 | 1 | yes |
| Q15393-2 | 2 | |
| Q15393-3 | 3 |
RefSeq proteins (1): NP_036558* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004871 | RSE1/DDB1/CPSF1_C | Domain |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR018846 | Beta-prop_RSE1/DDB1/CPSF1_1st | Domain |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR050358 | RSE1/DDB1/CFT1 | Family |
| IPR058543 | Beta-prop_RSE1/DDB1/CPSF1_2nd | Domain |
Pfam: PF03178, PF10433, PF23726
UniProt features (168 total): strand 118, turn 13, helix 13, site 7, region of interest 6, sequence conflict 4, splice variant 3, modified residue 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
67 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7Q4O | ELECTRON MICROSCOPY | 2.1 |
| 7Q4P | ELECTRON MICROSCOPY | 2.15 |
| 7Q3L | ELECTRON MICROSCOPY | 2.21 |
| 7B9C | X-RAY DIFFRACTION | 2.4 |
| 9RDK | ELECTRON MICROSCOPY | 2.41 |
| 7EVO | ELECTRON MICROSCOPY | 2.5 |
| 7EVN | ELECTRON MICROSCOPY | 2.6 |
| 8H6L | ELECTRON MICROSCOPY | 2.6 |
| 8H6K | ELECTRON MICROSCOPY | 2.7 |
| 8HK1 | ELECTRON MICROSCOPY | 2.7 |
| 7DVQ | ELECTRON MICROSCOPY | 2.89 |
| 7B0I | X-RAY DIFFRACTION | 3 |
| 7B91 | X-RAY DIFFRACTION | 3 |
| 7B92 | X-RAY DIFFRACTION | 3 |
| 7OMF | X-RAY DIFFRACTION | 3 |
| 7VPX | ELECTRON MICROSCOPY | 3 |
| 8I0R | ELECTRON MICROSCOPY | 3 |
| 8I0T | ELECTRON MICROSCOPY | 3 |
| 8I0V | ELECTRON MICROSCOPY | 3 |
| 6EN4 | X-RAY DIFFRACTION | 3.08 |
| 5IFE | X-RAY DIFFRACTION | 3.1 |
| 7ONB | ELECTRON MICROSCOPY | 3.1 |
| 7OPI | X-RAY DIFFRACTION | 3.1 |
| 7QTT | ELECTRON MICROSCOPY | 3.1 |
| 9K1Y | ELECTRON MICROSCOPY | 3.1 |
| 8H6E | ELECTRON MICROSCOPY | 3.2 |
| 8H6J | ELECTRON MICROSCOPY | 3.25 |
| 9ZE2 | ELECTRON MICROSCOPY | 3.26 |
| 6QX9 | ELECTRON MICROSCOPY | 3.28 |
| 8I0U | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15393-F1 | 92.36 | 0.79 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (7): 429 (interaction with sf3b5); 916 (interaction with sf3b5); 988 (interaction with sf3b1); 1171 (interaction with sf3b1); 284 (interaction with sf3b5); 306 (interaction with sf3b5); 352 (interaction with sf3b5)
Post-translational modifications (2): 156, 1200
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-72165 | mRNA Splicing - Minor Pathway |
| R-HSA-9770562 | mRNA Polyadenylation |
| R-HSA-9918481 | Dengue Virus-Host Interactions |
| R-HSA-9943411 | CHD1 and CHD2 subfamily |
| R-HSA-72172 | mRNA Splicing |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 327 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GSE45365_NK_CELL_VS_CD8A_DC_UP, GSE45365_NK_CELL_VS_BCELL_UP, RNGTGGGC_UNKNOWN, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, chr16q22, PAX4_01, NAGY_STAGA_COMPONENTS_HUMAN, KANG_FLUOROURACIL_RESISTANCE_UP, GCM_GSPT1, BOYAULT_LIVER_CANCER_SUBCLASS_G2, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, DITTMER_PTHLH_TARGETS_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS
GO Biological Process (9): RNA splicing, via transesterification reactions (GO:0000375), mRNA splicing, via spliceosome (GO:0000398), regulation of DNA repair (GO:0006282), RNA splicing (GO:0008380), negative regulation of protein catabolic process (GO:0042177), regulation of RNA splicing (GO:0043484), positive regulation of DNA-templated transcription (GO:0045893), U2-type prespliceosome assembly (GO:1903241), mRNA processing (GO:0006397)
GO Molecular Function (4): U2 snRNA binding (GO:0030620), protein-containing complex binding (GO:0044877), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (10): SAGA complex (GO:0000124), nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U2-type spliceosomal complex (GO:0005684), U2 snRNP (GO:0005686), U12-type spliceosomal complex (GO:0005689), nucleolus (GO:0005730), U2-type precatalytic spliceosome (GO:0071005), catalytic step 2 spliceosome (GO:0071013)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| mRNA Splicing | 2 |
| mRNA 3’-end processing | 1 |
| Dengue Virus Infection | 1 |
| CHD chromatin remodelers | 1 |
| Processing of Capped Intron-Containing Pre-mRNA | 1 |
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 3 |
| spliceosomal complex | 3 |
| RNA splicing | 2 |
| RNA processing | 2 |
| nuclear lumen | 2 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| DNA repair | 1 |
| regulation of DNA metabolic process | 1 |
| regulation of cellular response to stress | 1 |
| negative regulation of catabolic process | 1 |
| protein catabolic process | 1 |
| regulation of protein catabolic process | 1 |
| negative regulation of protein metabolic process | 1 |
| regulation of gene expression | 1 |
| regulation of primary metabolic process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| spliceosomal complex assembly | 1 |
| mRNA metabolic process | 1 |
| snRNA binding | 1 |
| SAGA-type complex | 1 |
| DUBm complex | 1 |
| peptidase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
| spliceosomal snRNP complex | 1 |
| intracellular membraneless organelle | 1 |
| U2-type spliceosomal complex | 1 |
| U1 snRNP | 1 |
| U2 snRNP | 1 |
| U4/U6 x U5 tri-snRNP complex | 1 |
| precatalytic spliceosome | 1 |
| Prp19 complex | 1 |
| U5 snRNP | 1 |
| catalytic complex | 1 |
Protein interactions and networks
STRING
3307 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SF3B3 | SF3B2 | Q13435 | 999 |
| SF3B3 | SF3B5 | Q9BWJ5 | 997 |
| SF3B3 | PHF5A | Q7RTV0 | 996 |
| SF3B3 | SF3B4 | Q15427 | 995 |
| SF3B3 | SF3B1 | O75533 | 994 |
| SF3B3 | SF3B6 | Q9Y3B4 | 990 |
| SF3B3 | SF3A3 | Q12874 | 969 |
| SF3B3 | CLEC4E | Q9ULY5 | 947 |
| SF3B3 | HNRNPK | P61978 | 935 |
| SF3B3 | PUF60 | Q9UHX1 | 910 |
| SF3B3 | SF3A2 | Q15428 | 896 |
| SF3B3 | FXR2 | P51116 | 895 |
| SF3B3 | SF3A1 | Q15459 | 877 |
| SF3B3 | SNRPA1 | P09661 | 847 |
| SF3B3 | EFTUD2 | Q15029 | 844 |
IntAct
270 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PLK1 | SPAG9 | psi-mi:“MI:0914”(association) | 0.790 |
| SNRPE | GEMIN2 | psi-mi:“MI:0914”(association) | 0.770 |
| TRRAP | ATXN7 | psi-mi:“MI:0914”(association) | 0.740 |
| CCDC97 | SF3B1 | psi-mi:“MI:0914”(association) | 0.730 |
| PHF5A | SF3B1 | psi-mi:“MI:0914”(association) | 0.730 |
| TUBA1C | TXNDC9 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| SNRPD2 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| SNRPB | PRMT5 | psi-mi:“MI:0914”(association) | 0.670 |
| SNRPA1 | HTATSF1 | psi-mi:“MI:0914”(association) | 0.640 |
| NCBP1 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| DNAJC8 | SF3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | U2SURP | psi-mi:“MI:0914”(association) | 0.640 |
| SF3B4 | SF3B1 | psi-mi:“MI:0914”(association) | 0.610 |
| PPP4R2 | SF3B1 | psi-mi:“MI:0914”(association) | 0.570 |
| PPP4R2 | SF3B1 | psi-mi:“MI:2364”(proximity) | 0.570 |
| CHEK2 | PPM1G | psi-mi:“MI:0914”(association) | 0.560 |
| SF3B3 | SF3A3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CASP6 | SF3B3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HIP1 | SF3B3 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (774): SF3B3 (Affinity Capture-MS), SF3B3 (Affinity Capture-MS), SF3B3 (Affinity Capture-RNA), SF3B3 (Affinity Capture-MS), SF3B3 (Affinity Capture-MS), SF3B3 (Affinity Capture-MS), SF3B3 (Affinity Capture-MS), SF3B3 (Affinity Capture-MS), SF3B3 (Affinity Capture-MS), SF3B3 (Affinity Capture-MS), SF3B3 (Affinity Capture-MS), SF3B3 (Affinity Capture-MS), SF3B3 (Affinity Capture-MS), SF3B3 (Affinity Capture-RNA), BCAS2 (Co-fractionation)
ESM2 similar proteins: A0JN52, A1A4K3, A8XPU7, O49552, P0CR22, P0CR23, P0DKL4, P0DKL6, P33194, Q15393, Q16531, Q1LVE8, Q21554, Q3SYG4, Q3U1J4, Q3V3N7, Q4ADV7, Q4PGM6, Q4WLI5, Q52E49, Q54SA7, Q5B1X8, Q5BDG7, Q5DM57, Q5R649, Q5RBI5, Q69ZJ7, Q6AX60, Q6CAH5, Q6E7D1, Q6L4S0, Q6P6Z0, Q6QNU4, Q753D4, Q7RYR4, Q7XWP1, Q805F9, Q811G0, Q8NFJ9, Q921M3
Diamond homologs: A0JN52, P0CR22, P0CR23, P0DKL4, P0DKL6, Q15393, Q1LVE8, Q4PGM6, Q4WLI5, Q52E49, Q54SA7, Q5A7S5, Q5B1X8, Q5RBI5, Q6BYK1, Q7RYR4, Q921M3, Q9UTT2, Q9W0M7, Q6CAH5, Q7XWP1
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SF3B3 | “form complex” | SF3b | binding |
| SF3B3 | “form complex” | “U2 snRNP complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 194 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Metabolism of non-coding RNA | 7 | 30.4× | 1e-07 |
| mRNA Splicing | 27 | 20.3× | 3e-26 |
| mRNA Polyadenylation | 31 | 18.6× | 8e-29 |
| Processing of Capped Intron-Containing Pre-mRNA | 30 | 16.9× | 1e-26 |
| mRNA Splicing - Minor Pathway | 11 | 16.9× | 3e-09 |
| mRNA Splicing - Major Pathway | 42 | 15.7× | 2e-36 |
| CHD1 and CHD2 subfamily | 21 | 15.6× | 1e-17 |
| snRNP Assembly | 8 | 11.6× | 2e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| U2-type prespliceosome assembly | 16 | 55.5× | 1e-22 |
| spliceosomal complex assembly | 9 | 30.1× | 3e-09 |
| mRNA cis splicing, via spliceosome | 5 | 27.5× | 8e-05 |
| spliceosomal snRNP assembly | 8 | 25.8× | 1e-07 |
| RNA splicing, via transesterification reactions | 7 | 24.3× | 1e-06 |
| amyloid fibril formation | 6 | 20.1× | 5e-05 |
| mRNA splicing, via spliceosome | 37 | 18.8× | 8e-34 |
| RNA processing | 10 | 12.2× | 1e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
238 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 177 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 808800 | NM_001330301.2(SAP130):c.181C>T (p.Gln61Ter) | Likely pathogenic |
SpliceAI
7009 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:70526583:TTAGC:T | acceptor_loss | 1.0000 |
| 16:70526585:A:AG | acceptor_gain | 1.0000 |
| 16:70526585:AGC:A | acceptor_loss | 1.0000 |
| 16:70526586:G:GG | acceptor_gain | 1.0000 |
| 16:70526586:GC:G | acceptor_gain | 1.0000 |
| 16:70526586:GCT:G | acceptor_gain | 1.0000 |
| 16:70526586:GCTT:G | acceptor_gain | 1.0000 |
| 16:70526586:GCTTT:G | acceptor_gain | 1.0000 |
| 16:70526724:CTGGT:C | donor_loss | 1.0000 |
| 16:70526725:TGG:T | donor_loss | 1.0000 |
| 16:70526726:GGTA:G | donor_loss | 1.0000 |
| 16:70526727:G:GG | donor_gain | 1.0000 |
| 16:70526727:GTAAG:G | donor_loss | 1.0000 |
| 16:70526728:TAA:T | donor_loss | 1.0000 |
| 16:70527430:G:GG | donor_gain | 1.0000 |
| 16:70528869:CTA:C | acceptor_loss | 1.0000 |
| 16:70528870:TA:T | acceptor_loss | 1.0000 |
| 16:70528871:A:AT | acceptor_loss | 1.0000 |
| 16:70529195:GATTA:G | donor_gain | 1.0000 |
| 16:70529196:ATTA:A | donor_gain | 1.0000 |
| 16:70529197:TTA:T | donor_gain | 1.0000 |
| 16:70529198:TA:T | donor_gain | 1.0000 |
| 16:70529199:AGTA:A | donor_loss | 1.0000 |
| 16:70529200:G:GG | donor_gain | 1.0000 |
| 16:70529201:T:A | donor_loss | 1.0000 |
| 16:70532476:TA:T | acceptor_loss | 1.0000 |
| 16:70532616:TACAG:T | donor_loss | 1.0000 |
| 16:70532617:ACAG:A | donor_loss | 1.0000 |
| 16:70532618:CAG:C | donor_loss | 1.0000 |
| 16:70532619:AG:A | donor_loss | 1.0000 |
AlphaMissense
7948 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:70526715:G:A | G20E | 1.000 |
| 16:70529046:A:C | S82R | 1.000 |
| 16:70529048:T:A | S82R | 1.000 |
| 16:70529048:T:G | S82R | 1.000 |
| 16:70529056:G:A | G85D | 1.000 |
| 16:70529059:G:C | R86P | 1.000 |
| 16:70529125:G:A | G108D | 1.000 |
| 16:70529181:G:A | G127R | 1.000 |
| 16:70529181:G:C | G127R | 1.000 |
| 16:70529181:G:T | G127W | 1.000 |
| 16:70529182:G:A | G127E | 1.000 |
| 16:70529185:G:C | R128P | 1.000 |
| 16:70529187:G:C | A129P | 1.000 |
| 16:70529188:C:A | A129D | 1.000 |
| 16:70530771:T:G | Y142D | 1.000 |
| 16:70530782:C:A | N145K | 1.000 |
| 16:70530782:C:G | N145K | 1.000 |
| 16:70530784:G:C | R146T | 1.000 |
| 16:70530784:G:T | R146I | 1.000 |
| 16:70530785:A:C | R146S | 1.000 |
| 16:70530785:A:T | R146S | 1.000 |
| 16:70530817:C:A | P157H | 1.000 |
| 16:70530820:T:C | L158P | 1.000 |
| 16:70530826:C:A | A160D | 1.000 |
| 16:70530876:T:C | F177L | 1.000 |
| 16:70530878:T:A | F177L | 1.000 |
| 16:70530878:T:G | F177L | 1.000 |
| 16:70530884:T:A | N179K | 1.000 |
| 16:70530884:T:G | N179K | 1.000 |
| 16:70530886:C:A | P180Q | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000072097 (16:70547742 G>A), RS1000085283 (16:70554390 G>A), RS1000144400 (16:70537207 G>A), RS1000179042 (16:70553997 A>C), RS1000222189 (16:70570089 A>T), RS1000337217 (16:70548240 G>A), RS1000421760 (16:70548066 G>T), RS1000456994 (16:70567215 G>A,C), RS1000683435 (16:70561391 G>C,T), RS1000747948 (16:70561270 C>T), RS1000766648 (16:70537968 A>G), RS1000819809 (16:70526503 C>T), RS1000856438 (16:70527281 G>A,T), RS1000857142 (16:70533212 G>A), RS1000864515 (16:70544037 A>G)
Disease associations
OMIM: gene MIM:605592 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005025_5 | Anti-saccade response | 8.000000e-07 |
| GCST006993_12 | Hippocampal volume in Alzheimer’s disease dementia | 1.000000e-07 |
| GCST010396_160 | Gut microbiota (bacterial taxa, hurdle binary method) | 2.000000e-06 |
| GCST010703_100 | Brain morphology (MOSTest) | 2.000000e-40 |
| GCST010725_47 | Malaria | 6.000000e-07 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006874 | antisaccade response measurement |
| EFO:0005035 | hippocampal volume |
| EFO:0007874 | gut microbiome measurement |
| EFO:0004346 | neuroimaging measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL1250378 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
3 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 119,020 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL269732 | TACROLIMUS ANHYDROUS | 4 | 95,168 |
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
| CHEMBL99 | TRICHOSTATIN | 1 | 22,314 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
Binding affinities (BindingDB)
6 measured of 6 human assays (6 total across all organisms); most potent 6 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| (3R,6R,7S,8E,10S,11S,12E,14E,16S,18R,19R,20R,21S)-7-acetoxy-3,6,21-trihydroxy-6,10,12,16,20-pentamethyl-18,19-epoxytricosa-8,12,14-triene-11-olide | EC50 | 0.86 nM |
| (3R,6R,7S,8E,10S,11S,12E,14E,16R,18R,19R,20R,21S)-7-[(4-cycloheptylpiperazin-1-yl)carbonyl]oxy-3,6,16,21-tetrahydroxy-6,10,12,16,20-pentamethyl-18,19-epoyxtrichosa-8,12,14-trien-11-olide | EC50 | 3.2 nM |
| (3R,6R,7S,8E,10S,11S,12E,14E,16R,18R,19R,20R,21S)-7-acetoxy-3,6,16,21-tetrahydroxy-6,10,12,16,20-pentamethyl-18,19-epoxytricosa-8,12,14-triene-11-olide | EC50 | 4.3 nM |
| CID16202133 | EC50 | 4.9 nM |
| CID1620213 | EC50 | 595 nM |
| CID16202134 | EC50 | 645 nM |
ChEMBL bioactivities
26 potent at pChembl≥5 of 28 total, top 26 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 9.00 | IC50 | 1 | nM | PLADIENOLIDE B |
| 8.89 | IC50 | 1.3 | nM | PLADIENOLIDE B |
| 8.49 | IC50 | 3.2 | nM | CHEMBL1240972 |
| 8.48 | IC50 | 3.3 | nM | PLA D |
| 8.44 | IC50 | 3.6 | nM | CHEMBL1240972 |
| 8.37 | IC50 | 4.3 | nM | PLA D |
| 8.31 | IC50 | 4.9 | nM | CHEMBL1242284 |
| 8.30 | IC50 | 5 | nM | PLADIENOLIDE C |
| 8.18 | IC50 | 6.6 | nM | CHEMBL1242284 |
| 8.13 | IC50 | 7.4 | nM | PLADIENOLIDE C |
| 7.96 | IC50 | 10.9 | nM | TACROLIMUS ANHYDROUS |
| 7.86 | IC50 | 13.8 | nM | TACROLIMUS ANHYDROUS |
| 7.23 | IC50 | 58.9 | nM | PLADIENOLIDE E |
| 7.19 | IC50 | 65.2 | nM | PLADIENOLIDE E |
| 7.11 | IC50 | 78.4 | nM | CHEMBL1240973 |
| 6.51 | IC50 | 307.7 | nM | PLADIENOLIDE A |
| 6.38 | IC50 | 418.1 | nM | PLADIENOLIDE A |
| 6.24 | IC50 | 577.6 | nM | TRICHOSTATIN |
| 6.21 | IC50 | 611.2 | nM | TRICHOSTATIN |
| 6.19 | IC50 | 644.8 | nM | CHEMBL1240974 |
| 5.67 | IC50 | 2154 | nM | PLADIENOLIDE F |
| 5.54 | IC50 | 2894 | nM | PLADIENOLIDE F |
| 5.46 | IC50 | 3481 | nM | LACTACYSTIN |
| 5.22 | Kd | 6084 | nM | CHEMBL5653589 |
| 5.22 | ED50 | 6084 | nM | CHEMBL5653589 |
| 5.11 | Kd | 7753 | nM | MOLIBRESIB |
PubChem BioAssay actives
37 with measured affinity, of 102 total; 21 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| [(2S,3S,4E,6S,7R,10R)-7,10-dihydroxy-2-[(2E,4E,6S)-7-[(2R,3R)-3-[(2R,3S)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-1-oxacyclododec-4-en-6-yl] acetate | 1799385: WiDr from Article 10.1038/nchembio.2007.16: “Splicing factor SF3b as a target of the antitumor natural product pladienolide.” | ec50 | 0.0009 | uM |
| [(2S,3S,6S,7R,10R)-7,10-dihydroxy-2-[(2E,4E,6S)-7-[(2R,3R)-3-[(2R,3S)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-oxacyclododec-6-yl] acetate | 506784: Inhibition of SAP130 mediated cell growth in human WiDr cells | ic50 | 0.0010 | uM |
| [(2S,3S,4E,6S,7R,10R)-7,10-dihydroxy-2-[(2E,4E,6R)-6-hydroxy-7-[(2R,3R)-3-[(2R,3S)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-1-oxacyclododec-4-en-6-yl] 4-cycloheptylpiperazine-1-carboxylate | 1799385: WiDr from Article 10.1038/nchembio.2007.16: “Splicing factor SF3b as a target of the antitumor natural product pladienolide.” | ec50 | 0.0032 | uM |
| [(2S,3S,6S,7R,10R)-7,10-dihydroxy-2-[(2E,4E,6R)-6-hydroxy-7-[(2R,3R)-3-[(2R,3S)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-oxacyclododec-6-yl] 4-cycloheptylpiperazine-1-carboxylate | 506784: Inhibition of SAP130 mediated cell growth in human WiDr cells | ic50 | 0.0032 | uM |
| [(2S,3S,6S,7R,10R)-7,10-dihydroxy-2-[(2E,4E,6R)-6-hydroxy-7-[(2R,3R)-3-[(2R,3S)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-oxacyclododec-6-yl] acetate | 507021: Inhibition of SAP130 in VEGF-stimulated human U251 cells by PLAP reporter gene assay | ic50 | 0.0033 | uM |
| [(2S,3S,4E,6S,7R,10R)-7,10-dihydroxy-2-[(2E,4E,6R)-6-hydroxy-7-[(2R,3R)-3-[(2R,3S)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-1-oxacyclododec-4-en-6-yl] acetate | 1799384: VEGF-PLAP from Article 10.1038/nchembio.2007.16: “Splicing factor SF3b as a target of the antitumor natural product pladienolide.” | ec50 | 0.0043 | uM |
| [(2S,3S,4E,6S,7R,10R)-7,10-dihydroxy-2-[(2E,4E,6S)-7-[(2R,3R)-3-[(2R,3S)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-1-oxacyclododec-4-en-6-yl] N-ethylcarbamate | 1799384: VEGF-PLAP from Article 10.1038/nchembio.2007.16: “Splicing factor SF3b as a target of the antitumor natural product pladienolide.” | ec50 | 0.0049 | uM |
| [(2S,3S,6S,7R,10R)-7,10-dihydroxy-2-[(2E,4E,6S)-7-[(2R,3R)-3-[(2R,3S)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-oxacyclododec-6-yl] N-ethylcarbamate | 506784: Inhibition of SAP130 mediated cell growth in human WiDr cells | ic50 | 0.0049 | uM |
| [(2S,3S,6S,7R,10R)-7,10-dihydroxy-3,7-dimethyl-2-[(2E,4E,6S)-6-methyl-7-[(2R,3R)-3-[(2S)-3-oxopentan-2-yl]oxiran-2-yl]hepta-2,4-dien-2-yl]-12-oxo-oxacyclododec-6-yl] acetate | 507021: Inhibition of SAP130 in VEGF-stimulated human U251 cells by PLAP reporter gene assay | ic50 | 0.0050 | uM |
| Tacrolimus | 506784: Inhibition of SAP130 mediated cell growth in human WiDr cells | ic50 | 0.0109 | uM |
| [(2S,3S,6S,7R,10R)-2-[(2E,4E,6S)-7-[(2R,3S)-3-[(2S,3S)-2,3-dihydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-7,10-dihydroxy-3,7-dimethyl-12-oxo-oxacyclododec-6-yl] acetate | 507021: Inhibition of SAP130 in VEGF-stimulated human U251 cells by PLAP reporter gene assay | ic50 | 0.0589 | uM |
| [(2S,3S,4E,6S,7R,10R)-7,10-dihydroxy-2-[(2E,4E,6S)-7-[(2R,3R)-3-[(2R,3S)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-1-oxacyclododec-4-en-6-yl] N-[2-[2-[2-[5-(2,2-difluoro-10,12-dimethyl-1-aza-3-azonia-2-boranuidatricyclo[7.3.0.03,7]dodeca-3,5,7,9,11-pentaen-4-yl)pentanoylamino]ethoxy]ethoxy]ethyl]carbamate | 1799385: WiDr from Article 10.1038/nchembio.2007.16: “Splicing factor SF3b as a target of the antitumor natural product pladienolide.” | ec50 | 0.0702 | uM |
| [(2S,3S,6S,7R,10R)-7,10-dihydroxy-2-[(2E,4E,6S)-7-[(2R,3R)-3-[(2R,3S)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-oxacyclododec-6-yl] N-[2-[2-[2-[5-(2,2-difluoro-10,12-dimethyl-1-aza-3-azonia-2-boranuidatricyclo[7.3.0.03,7]dodeca-3,5,7,9,11-pentaen-4-yl)pentanoylamino]ethoxy]ethoxy]ethyl]carbamate | 507021: Inhibition of SAP130 in VEGF-stimulated human U251 cells by PLAP reporter gene assay | ic50 | 0.0784 | uM |
| (4R,7R,8S,11S,12S)-4,7,8-trihydroxy-12-[(2E,4E,6S)-7-[(2R,3R)-3-[(2R,3S)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-7,11-dimethyl-oxacyclododecan-2-one | 507021: Inhibition of SAP130 in VEGF-stimulated human U251 cells by PLAP reporter gene assay | ic50 | 0.3077 | uM |
| (2E,4E,6R)-7-[4-(dimethylamino)phenyl]-N-hydroxy-4,6-dimethyl-7-oxohepta-2,4-dienamide | 506784: Inhibition of SAP130 mediated cell growth in human WiDr cells | ic50 | 0.5776 | uM |
| [(2S,3S,4E,6S,7R,10R)-7,10-dihydroxy-2-[(2E,4E,6S)-7-[(2R,3R)-3-[(2R,3S)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-1-oxacyclododec-4-en-6-yl] N-[(5S)-6-[2-[5-[(3aR,4R,6aS)-2-oxo-1,3,3a,4,6,6a-hexahydrothieno[3,4-d]imidazol-4-yl]pentanoyl-methylamino]ethyl-methylamino]-6-oxo-5-[[4-[3-(trifluoromethyl)diazirin-3-yl]benzoyl]amino]hexyl]carbamate | 1799385: WiDr from Article 10.1038/nchembio.2007.16: “Splicing factor SF3b as a target of the antitumor natural product pladienolide.” | ec50 | 0.5950 | uM |
| [(2S,3S,6S,7R,10R)-7,10-dihydroxy-2-[(2E,4E,6S)-7-[(2R,3R)-3-[(2R,3S)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-3,7-dimethyl-12-oxo-oxacyclododec-6-yl] N-[(5S)-6-[2-[5-[(3aR,4R,6aS)-2-oxo-1,3,3a,4,6,6a-hexahydrothieno[3,4-d]imidazol-4-yl]pentanoyl-methylamino]ethyl-methylamino]-6-oxo-5-[[4-[3-(trifluoromethyl)diazirin-3-yl]benzoyl]amino]hexyl]carbamate | 507021: Inhibition of SAP130 in VEGF-stimulated human U251 cells by PLAP reporter gene assay | ic50 | 0.6448 | uM |
| (4R,7R,8S,11S,12S)-4,7,8-trihydroxy-12-[(2E,4E,6R)-6-hydroxy-7-[(2R,3R)-3-[(2R,3S)-3-hydroxypentan-2-yl]oxiran-2-yl]-6-methylhepta-2,4-dien-2-yl]-7,11-dimethyl-oxacyclododecan-2-one | 507021: Inhibition of SAP130 in VEGF-stimulated human U251 cells by PLAP reporter gene assay | ic50 | 2.1539 | uM |
| (2R)-2-acetamido-3-[(2R,3S,4R)-3-hydroxy-2-[(1S)-1-hydroxy-2-methylpropyl]-4-methyl-5-oxopyrrolidine-2-carbonyl]sulfanylpropanoic acid | 507021: Inhibition of SAP130 in VEGF-stimulated human U251 cells by PLAP reporter gene assay | ic50 | 3.4810 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149387: Binding affinity to human SF3B3 incubated for 45 mins by Kinobead based pull down assay | kd | 6.0839 | uM |
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179113: Binding affinity against SF3B3 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 7.7530 | uM |
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| Valproic Acid | affects expression, decreases expression, decreases methylation | 3 |
| cobaltous chloride | decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| butylidenephthalide | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Benztropine | decreases expression | 1 |
| Clozapine | affects cotreatment, decreases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Cuprizone | affects cotreatment, decreases expression | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Doxorubicin | affects expression | 1 |
ChEMBL screening assays
41 unique, capped per target: 41 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1226366 | Binding | Binding affinity to SAP130 assessed as inhibition of radio labeled beta-globin pre-mRNA splicing after 1 hr by autoradiography | Spliceostatin A targets SF3b and inhibits both splicing and nuclear retention of pre-mRNA. — Nat Chem Biol |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): malaria, prostate cancer