SFPQ
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Also known as PSFPPP1R140
Summary
SFPQ (splicing factor proline and glutamine rich, HGNC:10774) is a protein-coding gene on chromosome 1p34.3, encoding Splicing factor, proline- and glutamine-rich (P23246). DNA- and RNA binding protein, involved in several nuclear processes. It is a common-essential gene (DepMap: required in 99.9% of cancer cell lines).
Enables DNA binding activity; histone deacetylase binding activity; and protein homodimerization activity. Involved in several processes, including alternative mRNA splicing, via spliceosome; positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway; and regulation of transcription by RNA polymerase II. Acts upstream of or within double-strand break repair via homologous recombination. Located in chromatin; nuclear matrix; and paraspeckles.
Source: NCBI Gene 6421 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 70 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
- Transcription factor: yes — 30 downstream targets (CollecTRI)
- MANE Select transcript:
NM_005066
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10774 |
| Approved symbol | SFPQ |
| Name | splicing factor proline and glutamine rich |
| Location | 1p34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PSF, PPP1R140 |
| Ensembl gene | ENSG00000116560 |
| Ensembl biotype | protein_coding |
| OMIM | 605199 |
| Entrez | 6421 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 7 protein_coding_CDS_not_defined, 2 protein_coding, 2 nonsense_mediated_decay
ENST00000357214, ENST00000460428, ENST00000466213, ENST00000466745, ENST00000468598, ENST00000470472, ENST00000471991, ENST00000485365, ENST00000485454, ENST00000490668, ENST00000696553
RefSeq mRNA: 1 — MANE Select: NM_005066
NM_005066
CCDS: CCDS388
Canonical transcript exons
ENST00000357214 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000956026 | 35191341 | 35191529 |
| ENSE00000956027 | 35190694 | 35190995 |
| ENSE00000956028 | 35190498 | 35190593 |
| ENSE00000956029 | 35189186 | 35189382 |
| ENSE00000956030 | 35189003 | 35189087 |
| ENSE00000956031 | 35187973 | 35188090 |
| ENSE00000956032 | 35187203 | 35187251 |
| ENSE00000956033 | 35187001 | 35187122 |
| ENSE00001460205 | 35182936 | 35184593 |
| ENSE00001460236 | 35192222 | 35193145 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.65.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 377.1436 / max 3121.3761, expressed in 1828 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 11672 | 368.2795 | 1828 |
| 11668 | 3.3119 | 1296 |
| 11667 | 1.9981 | 994 |
| 11670 | 1.3679 | 764 |
| 11666 | 0.9691 | 545 |
| 11669 | 0.9279 | 522 |
| 11662 | 0.2893 | 133 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 99.65 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 99.65 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.61 | gold quality |
| right uterine tube | UBERON:0001302 | 99.57 | gold quality |
| sural nerve | UBERON:0015488 | 99.53 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.52 | gold quality |
| cortical plate | UBERON:0005343 | 99.50 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.50 | gold quality |
| left ovary | UBERON:0002119 | 99.47 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.46 | gold quality |
| tibial nerve | UBERON:0001323 | 99.45 | gold quality |
| right ovary | UBERON:0002118 | 99.45 | gold quality |
| sperm | CL:0000019 | 99.41 | gold quality |
| right testis | UBERON:0004534 | 99.38 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.37 | gold quality |
| skin of leg | UBERON:0001511 | 99.37 | gold quality |
| endocervix | UBERON:0000458 | 99.36 | gold quality |
| calcaneal tendon | UBERON:0003701 | 99.36 | gold quality |
| left testis | UBERON:0004533 | 99.34 | gold quality |
| body of uterus | UBERON:0009853 | 99.34 | gold quality |
| tendon | UBERON:0000043 | 99.33 | gold quality |
| ovary | UBERON:0000992 | 99.33 | gold quality |
| embryo | UBERON:0000922 | 99.32 | gold quality |
| cerebellum | UBERON:0002037 | 99.32 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.30 | gold quality |
| metanephros cortex | UBERON:0010533 | 99.30 | gold quality |
| left uterine tube | UBERON:0001303 | 99.29 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.29 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.28 | gold quality |
| male germ cell | CL:0000015 | 99.27 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 19.86 |
| E-CURD-135 | no | 1019.62 |
| E-CURD-79 | no | 874.47 |
| E-GEOD-93593 | no | 7.05 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
30 targets.
| Target | Regulation |
|---|---|
| ACTB | |
| ADARB2 | Repression |
| AIFM1 | Repression |
| AR | |
| CTBP1 | |
| CXCL8 | Repression |
| CYP11A1 | |
| CYP17A1 | |
| CYP2B6 | |
| DNAAF4 | Unknown |
| EPHX1 | |
| GJA1 | |
| HDAC2 | Unknown |
| HSPA9 | |
| IGF1 | |
| NEAT1 | Unknown |
| NR3C1 | Unknown |
| PER1 | |
| PGR | Repression |
| PPARGC1A | Repression |
| PRL | |
| PTGS2 | Unknown |
| PTPRC | Repression |
| RBP4 | |
| SIN3A | |
| SMC3 | |
| SP1 | |
| STAT6 | Repression |
| TH | Unknown |
| TOP2B |
Upstream regulators (CollecTRI, top): E2F4
miRNA regulators (miRDB)
110 targeting SFPQ, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 40)
- Here we show that PSF interacts with p54nrb.PSF bind U5 snRNA with both the sequence and structure of stem 1b contributing to binding specificity. (PMID:12403470)
- Review article of PSF as a multi-functional nuclear protein. (PMID:12417296)
- p54nrb and PSF have properties of key factors mediating INS function and likely define a novel mRNA regulatory pathway that is hijacked by HIV-1. (PMID:12944487)
- The PSF.p54(nrb) complex cooperates with Ku protein to form a functional preligation complex with substrate DNA (PMID:15590677)
- Data suggest that polypyrimidine tract-binding protein-associated splicing factor acts as a progesterone receptor corepressor and contributes to the functional withdrawal of progesterone and the initiation of human labor. (PMID:15668243)
- recruitment of PSF to activated promoters and the carboxyl-terminal domain of RNA polymerase II provides a mechanism by which transcription and pre-mRNA processing are coordinated within the cell. (PMID:16024807)
- DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor (PMID:16731528)
- Expression of PSF-TFE3 in renal epithelial cells plays an important role in the initiation and maintenance of oncogenic phenotype in papillary renal cell carcinomas (PMID:16832349)
- Mass spectrometric analysis of the complex revealed the polypyrimidine tract-binding protein-associated splicing factor (PSF) as a novel Hepatitis Delta virus RNA-interacting protein. (PMID:16938326)
- These results suggest that IbeA interacts with polypyrimidine tract-binding protein (PTB)-associated splicing factor (PSF) for the E. coli K1 invasion of HBMEC.[IbeA] (PMID:17318576)
- These data demonstrated that PSF and p54nrb complex with AR and play a key role in modulating AR-mediated gene transcription. (PMID:17452459)
- Identification of PSF, p54(nrb), PTB, and U1A as proteins specifically bound to the COX-2 polyadenylation signal upstream sequence elements . (PMID:17507659)
- identify PSF as a novel nucleophosmin 1/anaplastic lymphoma kinase-binding protein and substrate (PMID:17537995)
- XRN2 associates with p54nrb/NonO(p54)-protein-associated splicing factor (PSF), multifunctional proteins involved in several nuclear processes. (PMID:17639083)
- Findings suggest that the PSF.p54nrb complex is a novel MAP kinase signal-integrating kinases substrate that binds the mRNA for tumor necrosis factor alpha. (PMID:17965020)
- TFII-I, PARP1, and SFPQ proteins, each previously implicated in gene regulation, form a complex controlling transcription of DYX1C1. Allelic differences in the promoter or 5’UTR of DYX1C1 may affect factor binding and thus regulation of the gene. (PMID:18445785)
- Co-expression of PSF relocates oncogenic RING finger protein 43 (RNF43) from the nuclear periphery to the nucleoplasm. (PMID:18655028)
- These findings are suggestive of a role for myometrial PSF as a nuclear co-regulator in the regulation of specific hormone receptor genes and their target hormone response genes. (PMID:19339282)
- results suggest that PSF may have dual functions in homologous recombination and RNA processing through its N-terminal and central regions, respectively. (PMID:19447914)
- Melanotic Xp11 translocation renal cancer: a case with PSF-TFE3 gene fusion and up-regulation of melanogenetic transcripts. (PMID:19809274)
- Disruption of the growth hormone receptor polypyrimidine tract causes aberrant mRNA splicing resulting in growth hormone insensitivity. (PMID:19812236)
- PSF (polypyrimidine tract-binding protein-associated splicing factor) and p54(nrb), two highly related proteins involved in transcription and RNA processing, are identified as new binding partners of hnRNP M. (PMID:19874820)
- SFPQ/NONO heterodimer is involved in the early stage of the DSB response. (PMID:20421735)
- In response to hyperosmotic stress, p38 also regulates formation of complexes between hDlg and PSF. (PMID:20605917)
- GSK3/TRAP150, complex regulates CD45 alternative splicing and demonstrate a paradigm for signal transduction from the cell surface to the RNA processing machinery through the multifunctional protein PSF. (PMID:20932480)
- these results identify PSF as a repressor of STAT6-mediated transcription that functions through recruitment of HDAC to the STAT6 transcription complex, and delineates a novel regulatory mechanism of IL-4 signaling (PMID:21106524)
- PSF influences repair via direct, local, interaction with the DNA substrate (PMID:21144806)
- RVxF motifs play an important role in controlling the multifunctional properties of p54nrb and PSF in the regulation of gene transcription (PMID:21566083)
- Data reveal a new player in tau exon 10 alternative splicing regulation and uncover a previously unknown mechanism of PSF in regulating tau pre-mRNA splicing. (PMID:21881826)
- results indicate that SFPQ/PSF is a host factor essential for influenza virus transcription that increases the efficiency of viral mRNA polyadenylation (PMID:22114566)
- The results suggested that PSF may function as an activator for the meiosis-specific recombinase DMC1. (PMID:22156371)
- Localisation of TopBP1 at DNA damage sites was noticed as early as 5 s following damage induction, whereas p54(nrb) and PSF localised there after 20 s. (PMID:22213094)
- In Alzheimer’s disease, Pick’s disease, and Frontotemporal Lobar Degeneration Tau-mediates nuclear depletion and cytoplasmic accumulation of SFPQ. (PMID:22558197)
- Partial knockdown of Annexin A2 and PSF showed decrease in p53 IRES activity and reduced levels of both the p53 isoforms. (PMID:23131771)
- PSF and MATR3 are cellular host factors that bind viral RNA and promote Rev activity. (PMID:23158102)
- the effects of PSF on cell proliferation, tumor growth, and cell signaling associated with PPARgamma (PMID:23516550)
- Results suggest that Llme23 can function as an oncogenic RNA and directly associate the polypyrimidine tract-binding (PTB) protein-associated splicing factor (PSF)-binding lncRNA with melanoma. (PMID:23618401)
- The results of this study identify a new physiological role for the PSF-LC3B axis as a potential endogenous modulator of colon cancer treatment. (PMID:24288667)
- NEAT1 plays an important role in the innate immune response through the transcriptional regulation of antiviral genes by the stimulus-responsive cooperative action of NEAT1 and SFPQ. (PMID:24507715)
- MALAT1 binds to SFPQ releasing PTBP2 from the SFPQ/PTBP2 complex, the increased SFPQ-detached PTBP2 promotes cell proliferation and migration in colorectal cancer. (PMID:25025966)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sfpq | ENSDARG00000011564 |
| mus_musculus | Sfpq | ENSMUSG00000028820 |
| rattus_norvegicus | Sfpq | ENSRNOG00000058461 |
| drosophila_melanogaster | nonA | FBGN0004227 |
| drosophila_melanogaster | nonA-l | FBGN0015520 |
| drosophila_melanogaster | nito | FBGN0027548 |
| caenorhabditis_elegans | WBGENE00017778 |
Paralogs (7): SPEN (ENSG00000065526), PSPC1 (ENSG00000121390), NONO (ENSG00000147140), RAVER1 (ENSG00000161847), RAVER2 (ENSG00000162437), RBM15 (ENSG00000162775), RBM15B (ENSG00000259956)
Protein
Protein identifiers
Splicing factor, proline- and glutamine-rich — P23246 (reviewed: P23246)
Alternative names: 100 kDa DNA-pairing protein, DNA-binding p52/p100 complex, 100 kDa subunit, Polypyrimidine tract-binding protein-associated-splicing factor
All UniProt accessions (5): P23246, A0A384N5Z8, A0A8Q3WMA7, H0Y9K7, H0Y9U2
UniProt curated annotations — full annotation on UniProt →
Function. DNA- and RNA binding protein, involved in several nuclear processes. Essential pre-mRNA splicing factor required early in spliceosome formation and for splicing catalytic step II, probably as a heteromer with NONO. Binds to pre-mRNA in spliceosome C complex, and specifically binds to intronic polypyrimidine tracts. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45, a phosphorylated form is sequestered by THRAP3 from the pre-mRNA in resting T-cells; T-cell activation and subsequent reduced phosphorylation is proposed to lead to release from THRAP3 allowing binding to pre-mRNA splicing regulatotry elements which represses exon inclusion. Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3’ side of U5 snRNA stem 1b. May be involved in a pre-mRNA coupled splicing and polyadenylation process as component of a snRNP-free complex with SNRPA/U1A. The SFPQ-NONO heteromer associated with MATR3 may play a role in nuclear retention of defective RNAs. SFPQ may be involved in homologous DNA pairing; in vitro, promotes the invasion of ssDNA between a duplex DNA and produces a D-loop formation. The SFPQ-NONO heteromer may be involved in DNA unwinding by modulating the function of topoisomerase I/TOP1; in vitro, stimulates dissociation of TOP1 from DNA after cleavage and enhances its jumping between separate DNA helices. The SFPQ-NONO heteromer binds DNA. The SFPQ-NONO heteromer may be involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination and may stabilize paired DNA ends; in vitro, the complex strongly stimulates DNA end joining, binds directly to the DNA substrates and cooperates with the Ku70/G22P1-Ku80/XRCC5 (Ku) dimer to establish a functional preligation complex. SFPQ is involved in transcriptional regulation. Functions as a transcriptional activator. Transcriptional repression is mediated by an interaction of SFPQ with SIN3A and subsequent recruitment of histone deacetylases (HDACs). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. SFPQ isoform Long binds to the DNA binding domains (DBD) of nuclear hormone receptors, like RXRA and probably THRA, and acts as a transcriptional corepressor in absence of hormone ligands. Binds the DNA sequence 5’-CTGAGTC-3’ in the insulin-like growth factor response element (IGFRE) and inhibits IGF1-stimulated transcriptional activity. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation. Required for the assembly of nuclear speckles. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway.
Subunit / interactions. Heterodimer with NONO. Monomer and component of the SFPQ-NONO complex, which is probably a heterotetramer of two 52 kDa (NONO) and two 100 kDa (SFPQ) subunits. The coiled coil domain mediates interaction with NONO, and can also mediate formation of long, linear homooligomers (in vitro). SFPQ is a component of spliceosome and U5.4/6 snRNP complexes. Interacts with SNRPA/U1A. Component of a snRNP-free complex with SNRPA/U1A. Part of complex consisting of SFPQ, NONO and MATR3. Interacts with polypyrimidine tract-binding protein 1/PTB. Part of a complex consisting of SFPQ, NONO and NR5A1. Interacts with RXRA, probably THRA, and SIN3A. Interacts with TOP1. Part of a complex consisting of SFPQ, NONO and TOP1. Interacts with SNRNP70 in apoptotic cells. Interacts with PSPC1. Interacts with RNF43. Interacts with PITX3 and NR4A2/NURR1. Interacts with PTK6. Interacts with THRAP3; the interaction is dependent on SFPQ phosphorylation at ‘Thr-687’ and inhibits binding of SFPQ to a ESS1 exonic splicing silencer element-containing RNA. The large PER complex involved in the histone deacetylation is composed of at least HDAC1, PER2, SFPQ and SIN3A. Interacts with PER1 and PER2. Interacts with PQBP1. Component of a multiprotein complex with NONO and WASL. Interacts with ERCC6. (Microbial infection) Interacts with M.tuberculosis protein Rv3654c, which probably leads to the cleavage of PSF, diminishes the level of caspase-8 in macrophages and suppresses macrophage apoptosis by blocking the extrinsic pathway. Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle proteins (SFPQ, NONO, PSPC1, RBM14, and MATR3) and NEAT1 RNA.
Subcellular location. Nucleus speckle. Nucleus matrix. Cytoplasm.
Post-translational modifications. The N-terminus is blocked. Phosphorylated on multiple serine and threonine residues during apoptosis. In vitro phosphorylated by PKC. Phosphorylation stimulates binding to DNA and D-loop formation, but inhibits binding to RNA. Phosphorylation of C-terminal tyrosines promotes its cytoplasmic localization, impaired its binding to polypyrimidine RNA and led to cell cycle arrest. In resting T-cells is phosphorylated at Thr-687 by GSK3B which is proposed to promote association with THRAP and to prevent binding to PTPRC/CD45 pre-mRNA; T-cell activation leads to reduced phosphorylation at Thr-687.
Disease relevance. A chromosomal aberration involving SFPQ may be a cause of papillary renal cell carcinoma (PRCC). Translocation t(X;1)(p11.2;p34) with TFE3.
Domain organisation. The coiled coil domain mediates interaction with NONO, and can also mediate formation of long, linear homooligomers (in vitro). The coiled coil domain is required for optimal DNA binding, and optimal transcription activation.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P23246-1 | Long, A | yes |
| P23246-2 | Short, F |
RefSeq proteins (1): NP_005057* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR012975 | NOPS | Domain |
| IPR034525 | PSF_RRM1 | Domain |
| IPR034526 | PSF_NOPS | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
Pfam: PF00076, PF08075
UniProt features (92 total): modified residue 28, strand 16, helix 12, compositionally biased region 10, mutagenesis site 6, turn 4, repeat 3, cross-link 3, region of interest 3, domain 2, chain 1, site 1, splice variant 1, sequence conflict 1, coiled-coil region 1
Structure
Experimental structures (PDB)
13 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7LRU | X-RAY DIFFRACTION | 1.6 |
| 7SP0 | X-RAY DIFFRACTION | 1.83 |
| 6NCQ | X-RAY DIFFRACTION | 1.9 |
| 6OWJ | X-RAY DIFFRACTION | 1.94 |
| 4WII | X-RAY DIFFRACTION | 2.05 |
| 5WPA | X-RAY DIFFRACTION | 2.29 |
| 7LRQ | X-RAY DIFFRACTION | 2.3 |
| 7UK1 | X-RAY DIFFRACTION | 2.7 |
| 6WMZ | X-RAY DIFFRACTION | 2.85 |
| 7PU5 | X-RAY DIFFRACTION | 3 |
| 4WIK | X-RAY DIFFRACTION | 3 |
| 4WIJ | X-RAY DIFFRACTION | 3.49 |
| 7UJ1 | X-RAY DIFFRACTION | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P23246-F1 | 69.79 | 0.38 |
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 (1): 662–663 (breakpoint for translocation to form sfpq-tfe3)
Post-translational modifications (31): 8, 9, 9, 33, 208, 236, 242, 245, 273, 283, 293, 314, 319, 338, 368, 374, 379, 421, 472, 496 …
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 535 | impairs dna binding and ability to mediate transcriptional activation; when associated with a-539; a-546 and a-549. |
| 539 | impairs dna binding and ability to mediate transcriptional activation; when associated with a-535; a-546 and a-549. |
| 546 | impairs dna binding and ability to mediate transcriptional activation; when associated with a-535; a-539 and a-549. |
| 549 | impairs dna binding and ability to mediate transcriptional activation; when associated with a-535; a-539 and a-546. |
| 687 | abolishes phosphorylation by gsk3b. impairs interaction with thrap3. |
| 687 | no effect on interaction with thrap3 (phosphomimetic). |
Function
Pathways and Gene Ontology
Reactome pathways
10 pathways
| ID | Pathway |
|---|---|
| R-HSA-8849468 | PTK6 Regulates Proteins Involved in RNA Processing |
| R-HSA-9635465 | Suppression of apoptosis |
| R-HSA-162582 | Signal Transduction |
| R-HSA-1643685 | Disease |
| R-HSA-5663205 | Infectious disease |
| R-HSA-8848021 | Signaling by PTK6 |
| R-HSA-9006927 | Signaling by Non-Receptor Tyrosine Kinases |
| R-HSA-9635486 | Infection with Mycobacterium tuberculosis |
| R-HSA-9637690 | Response of Mtb to phagocytosis |
| R-HSA-9824439 | Bacterial Infection Pathways |
MSigDB gene sets: 397 (showing top):
GOBP_CIRCADIAN_RHYTHM, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_CHROMOSOME_ORGANIZATION, WANG_CLIM2_TARGETS_UP, GOBP_AXO_DENDRITIC_TRANSPORT, BROWNE_HCMV_INFECTION_8HR_UP, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, DITTMER_PTHLH_TARGETS_UP, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, GNF2_MCM5, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION
GO Biological Process (23): negative regulation of transcription by RNA polymerase II (GO:0000122), alternative mRNA splicing, via spliceosome (GO:0000380), double-strand break repair via homologous recombination (GO:0000724), activation of innate immune response (GO:0002218), chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355), mRNA processing (GO:0006397), RNA splicing (GO:0008380), regulation of circadian rhythm (GO:0042752), negative regulation of circadian rhythm (GO:0042754), innate immune response (GO:0045087), positive regulation of sister chromatid cohesion (GO:0045876), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), rhythmic process (GO:0048511), chromosome organization (GO:0051276), dendritic transport of messenger ribonucleoprotein complex (GO:0098963), positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177), immune system process (GO:0002376), DNA repair (GO:0006281), DNA recombination (GO:0006310), DNA damage response (GO:0006974), regulation of cell cycle (GO:0051726)
GO Molecular Function (8): transcription cis-regulatory region binding (GO:0000976), DNA binding (GO:0003677), chromatin binding (GO:0003682), RNA binding (GO:0003723), protein homodimerization activity (GO:0042803), histone deacetylase binding (GO:0042826), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (10): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear matrix (GO:0016363), nuclear speck (GO:0016607), dendrite (GO:0030425), paraspeckles (GO:0042382), RNA polymerase II transcription regulator complex (GO:0090575), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-8 pathways:
| Category | Pathways |
|---|---|
| Signaling by PTK6 | 1 |
| Response of Mtb to phagocytosis | 1 |
| Disease | 1 |
| Signaling by Non-Receptor Tyrosine Kinases | 1 |
| Signal Transduction | 1 |
| Bacterial Infection Pathways | 1 |
| Infection with Mycobacterium tuberculosis | 1 |
| Infectious disease | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| binding | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| DNA-templated transcription | 2 |
| RNA processing | 2 |
| circadian rhythm | 2 |
| biological_process | 2 |
| nucleic acid binding | 2 |
| nuclear lumen | 2 |
| nuclear ribonucleoprotein granule | 2 |
| negative regulation of DNA-templated transcription | 1 |
| mRNA splicing, via spliceosome | 1 |
| recombinational repair | 1 |
| double-strand break repair | 1 |
| activation of immune response | 1 |
| positive regulation of innate immune response | 1 |
| chromatin organization | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| mRNA metabolic process | 1 |
| regulation of biological process | 1 |
| regulation of circadian rhythm | 1 |
| negative regulation of biological process | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| sister chromatid cohesion | 1 |
| regulation of sister chromatid cohesion | 1 |
| positive regulation of cell cycle process | 1 |
| positive regulation of chromosome organization | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| positive regulation of DNA-templated transcription | 1 |
| organelle organization | 1 |
| dendritic transport | 1 |
| intrinsic apoptotic signaling pathway in response to oxidative stress | 1 |
| regulation of oxidative stress-induced intrinsic apoptotic signaling pathway | 1 |
| positive regulation of intrinsic apoptotic signaling pathway | 1 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
Protein interactions and networks
STRING
2272 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SFPQ | RBM14 | Q96PK6 | 993 |
| SFPQ | A0A0A6YYI9 | A0A0A6YYI9 | 992 |
| SFPQ | PTBP2 | Q9UKA9 | 989 |
| SFPQ | NONO | P30807 | 983 |
| SFPQ | PSPC1 | Q8WXF1 | 982 |
| SFPQ | MATR3 | P43243 | 954 |
| SFPQ | FUS | P35637 | 933 |
| SFPQ | TFE3 | P19532 | 873 |
| SFPQ | ASPSCR1 | Q9BZE9 | 824 |
| SFPQ | HNRNPM | P52272 | 823 |
| SFPQ | PRCC | Q92733 | 812 |
| SFPQ | HNRNPC | P07910 | 759 |
| SFPQ | SIN3A | Q96ST3 | 743 |
| SFPQ | U2AF1 | Q01081 | 724 |
| SFPQ | HNRNPU | Q00839 | 721 |
IntAct
300 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NONO | SFPQ | psi-mi:“MI:0915”(physical association) | 0.900 |
| SFPQ | NONO | psi-mi:“MI:2364”(proximity) | 0.900 |
| NONO | SFPQ | psi-mi:“MI:0914”(association) | 0.900 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| SFPQ | PSPC1 | psi-mi:“MI:0403”(colocalization) | 0.700 |
| PTBP1 | SFPQ | psi-mi:“MI:0915”(physical association) | 0.700 |
| SFPQ | PSPC1 | psi-mi:“MI:0915”(physical association) | 0.700 |
| SFPQ | FMR1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HIP1R | HIP1 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM98A | HERC2 | psi-mi:“MI:0914”(association) | 0.640 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| CHEK2 | PPM1G | psi-mi:“MI:0914”(association) | 0.560 |
| GAS7 | SFPQ | psi-mi:“MI:0914”(association) | 0.560 |
| RNF43 | SFPQ | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF43 | SFPQ | psi-mi:“MI:0403”(colocalization) | 0.560 |
| SFPQ | FXR1 | psi-mi:“MI:0915”(physical association) | 0.550 |
| SYNGAP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| NONO | SERPINB7 | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
BioGRID (824): SFPQ (Affinity Capture-Western), SFPQ (Affinity Capture-Western), SFPQ (Affinity Capture-Western), SFPQ (Affinity Capture-MS), SFPQ (Affinity Capture-MS), FUS (Affinity Capture-Western), SFPQ (Affinity Capture-Western), SFPQ (Affinity Capture-RNA), SFPQ (Affinity Capture-RNA), SFPQ (Reconstituted Complex), SFPQ (Affinity Capture-Western), PPARG (Two-hybrid), SFPQ (Protein-peptide), SFPQ (Affinity Capture-MS), SFPQ (Affinity Capture-MS)
ESM2 similar proteins: A7EYK3, A7SEP9, A8NYM5, A8XW44, C0NN85, C3Z1P5, C5XYW4, C5XZK6, C7YRT4, D0NHA2, D3B3B7, D5GDH4, E0VI98, E3KIY6, E3LAN7, E3X5D6, F6HQ26, O43670, P23246, P90815, Q09442, Q0P5D2, Q15427, Q16630, Q16IW3, Q1K7T5, Q1RLC9, Q298E0, Q4N6K2, Q4P2Q5, Q4UJ14, Q4WQM6, Q55A45, Q56XE4, Q5BBX9, Q5KC16, Q5NVH8, Q5R8K4, Q63627, Q6AYL5
Diamond homologs: A0A0D1C8Z4, A1A5R1, A1D4K4, A2A5N3, A2Q848, A3LXL0, A4F5G6, A5DW14, A6NFN3, A6QPR6, F1QB54, F4HT49, O04319, O43251, P04147, P0CB38, P11940, P15771, P19682, P19683, P20965, P23246, P28644, P29341, P42731, P49313, P60824, P60825, P60826, P61286, P62995, P62996, P62997, P82277, Q04836, Q08935, Q08937, Q09511, Q0CR95, Q0VD23
SIGNOR signaling
11 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ALK | down-regulates | SFPQ | phosphorylation |
| GSK3A | down-regulates | SFPQ | phosphorylation |
| GSK3B | down-regulates | SFPQ | phosphorylation |
| THRAP3 | down-regulates | SFPQ | binding |
| PTK6 | “down-regulates activity” | SFPQ | phosphorylation |
| SFPQ | “form complex” | NONO/SFPQ | binding |
| SFPQ | up-regulates | TOP1 | binding |
| SFPQ | “form complex” | “LMX1B/SFPQ/PSPC1 complex” | binding |
| SFPQ | “down-regulates quantity by repression” | TH | “transcriptional regulation” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 192 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 |
|---|---|---|---|
| Processing of Capped Intron-Containing Pre-mRNA | 15 | 9.5× | 3e-08 |
| mRNA Polyadenylation | 12 | 8.1× | 6e-06 |
| Macroautophagy | 9 | 8.0× | 3e-04 |
| mRNA Splicing | 9 | 7.6× | 3e-04 |
| mRNA Splicing - Major Pathway | 17 | 7.2× | 7e-08 |
| SARS-CoV-2-host interactions | 7 | 6.4× | 6e-03 |
| Metabolism of RNA | 16 | 5.1× | 1e-05 |
| SARS-CoV Infections | 11 | 4.7× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| membraneless organelle assembly | 5 | 33.6× | 8e-05 |
| activation of innate immune response | 6 | 17.3× | 2e-04 |
| mRNA stabilization | 6 | 13.2× | 7e-04 |
| negative regulation of translation | 9 | 10.6× | 8e-05 |
| autophagosome maturation | 5 | 10.5× | 8e-03 |
| positive regulation of translation | 7 | 9.6× | 9e-04 |
| mRNA splicing, via spliceosome | 17 | 9.3× | 5e-09 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 8.8× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
70 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1464 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:35184726:C:CT | acceptor_gain | 1.0000 |
| 1:35184727:A:AC | acceptor_gain | 1.0000 |
| 1:35184727:A:C | acceptor_gain | 1.0000 |
| 1:35187010:T:TA | donor_gain | 1.0000 |
| 1:35187011:C:A | donor_gain | 1.0000 |
| 1:35187121:ATC:A | acceptor_loss | 1.0000 |
| 1:35187123:C:A | acceptor_loss | 1.0000 |
| 1:35187123:C:CC | acceptor_gain | 1.0000 |
| 1:35187198:CTTA:C | donor_loss | 1.0000 |
| 1:35187199:TTA:T | donor_loss | 1.0000 |
| 1:35187200:TACCT:T | donor_loss | 1.0000 |
| 1:35187201:A:AC | donor_gain | 1.0000 |
| 1:35187201:ACCT:A | donor_gain | 1.0000 |
| 1:35187201:ACCTC:A | donor_gain | 1.0000 |
| 1:35187202:C:CC | donor_gain | 1.0000 |
| 1:35187202:CCT:C | donor_gain | 1.0000 |
| 1:35187202:CCTC:C | donor_gain | 1.0000 |
| 1:35187202:CCTCC:C | donor_gain | 1.0000 |
| 1:35187248:CCCG:C | acceptor_gain | 1.0000 |
| 1:35187249:CCG:C | acceptor_gain | 1.0000 |
| 1:35187249:CCGC:C | acceptor_gain | 1.0000 |
| 1:35187250:CG:C | acceptor_gain | 1.0000 |
| 1:35187250:CGC:C | acceptor_gain | 1.0000 |
| 1:35187250:CGCT:C | acceptor_loss | 1.0000 |
| 1:35187251:GCTG:G | acceptor_loss | 1.0000 |
| 1:35187252:C:CC | acceptor_gain | 1.0000 |
| 1:35187252:CTGC:C | acceptor_loss | 1.0000 |
| 1:35187253:T:A | acceptor_loss | 1.0000 |
| 1:35187966:GACT:G | donor_loss | 1.0000 |
| 1:35187967:ACT:A | donor_loss | 1.0000 |
AlphaMissense
4592 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:35188073:C:G | R572P | 1.000 |
| 1:35188076:C:G | R571P | 1.000 |
| 1:35189021:C:G | R560P | 1.000 |
| 1:35189022:G:T | R560S | 1.000 |
| 1:35189043:G:C | H553D | 1.000 |
| 1:35189045:A:G | L552P | 1.000 |
| 1:35189057:C:G | R548P | 1.000 |
| 1:35189058:G:T | R548S | 1.000 |
| 1:35189063:A:G | L546S | 1.000 |
| 1:35189072:T:G | Q543P | 1.000 |
| 1:35189075:C:G | R542P | 1.000 |
| 1:35189077:T:A | R541S | 1.000 |
| 1:35189077:T:G | R541S | 1.000 |
| 1:35189078:C:G | R541T | 1.000 |
| 1:35189084:A:G | L539P | 1.000 |
| 1:35189084:A:T | L539Q | 1.000 |
| 1:35189188:T:G | Q537P | 1.000 |
| 1:35189191:C:G | R536P | 1.000 |
| 1:35189192:G:A | R536C | 1.000 |
| 1:35189192:G:T | R536S | 1.000 |
| 1:35189194:A:C | L535W | 1.000 |
| 1:35189194:A:G | L535S | 1.000 |
| 1:35189197:A:G | L534P | 1.000 |
| 1:35189204:C:G | A532P | 1.000 |
| 1:35189206:T:G | Q531P | 1.000 |
| 1:35189209:T:G | H530P | 1.000 |
| 1:35189210:G:C | H530D | 1.000 |
| 1:35189215:T:G | H528P | 1.000 |
| 1:35189221:G:T | A526D | 1.000 |
| 1:35189222:C:G | A526P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000109361 (1:35181081 C>T), RS1000112358 (1:35185214 G>T), RS1000152345 (1:35183735 A>T), RS1000373238 (1:35183953 T>A,C), RS1000477142 (1:35178228 T>C), RS1000637036 (1:35189408 G>A), RS1000716472 (1:35188690 C>T), RS1000766178 (1:35178471 G>A,C), RS1000887548 (1:35177707 T>C), RS1000924647 (1:35193254 A>C,G,T), RS1000939436 (1:35177879 A>T), RS1001133145 (1:35183758 C>T), RS1001197481 (1:35178042 GAAT>G), RS1001313319 (1:35177785 A>G,T), RS1001456312 (1:35188230 A>C)
Disease associations
OMIM: gene MIM:605199 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): primary ovarian failure (MONDO:0005387)
Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001040_1 | Endometrial cancer | 6.000000e-06 |
| GCST005038_30 | Allergic disease (asthma, hay fever or eczema) | 1.000000e-08 |
| GCST008162_84 | Hip circumference | 9.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004230 | endometrial neoplasm |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D016649 | Primary Ovarian Insufficiency | C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5725114 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.19 | Kd | 6393 | nM | CHEMBL3752910 |
| 5.19 | ED50 | 6393 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 10 total; 1 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 |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149389: Binding affinity to human SFPQ incubated for 45 mins by Kinobead based pull down assay | kd | 6.3925 | uM |
CTD chemical–gene interactions
101 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, decreases methylation | 5 |
| sodium arsenite | decreases reaction, decreases expression, affects cotreatment, increases abundance, affects reaction (+2 more) | 4 |
| bisphenol A | decreases expression, affects cotreatment, affects expression, increases abundance | 3 |
| Nickel | affects expression, increases expression, decreases reaction | 3 |
| Tobacco Smoke Pollution | affects expression, increases expression | 3 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 2 |
| Arsenic Trioxide | increases expression, increases response to substance | 2 |
| Arsenic | decreases expression, affects cotreatment, increases abundance | 2 |
| Caffeine | affects phosphorylation, increases expression | 2 |
| Progesterone | decreases expression, increases expression | 2 |
| Tretinoin | affects cotreatment, increases expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| ginger extract | affects cotreatment, affects expression, increases abundance | 1 |
| geldanamycin | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| deoxynivalenol | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression, decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| trichostatin A | affects expression, decreases reaction | 1 |
| arsenite | affects expression | 1 |
| methylparaben | decreases expression | 1 |
| afimoxifene | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| tri-o-cresyl phosphate | decreases expression | 1 |
| bleomycetin | increases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652431 | Binding | Binding affinity to human SFPQ incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B122 | UOK145 | Cancer cell line | Female |
Clinical trials (associated diseases)
75 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00417066 | PHASE4 | COMPLETED | Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders |
| NCT00732693 | PHASE4 | COMPLETED | Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure |
| NCT00837616 | PHASE4 | COMPLETED | Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism |
| NCT01853501 | PHASE4 | UNKNOWN | Effects of ADSC Therapy in Women With POF |
| NCT02783937 | PHASE4 | COMPLETED | Filgrastim for Premature Ovarian Insufficiency |
| NCT03535480 | PHASE4 | UNKNOWN | Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure |
| NCT00140998 | PHASE3 | COMPLETED | Estrogen Treatment (Oral vs. Patches) in Turner Syndrome |
| NCT00001951 | PHASE2 | COMPLETED | Hormone Replacement in Young Women With Premature Ovarian Failure |
| NCT00370019 | PHASE2 | WITHDRAWN | Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure |
| NCT00429494 | PHASE2 | COMPLETED | GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients |
| NCT03816852 | PHASE2 | SUSPENDED | The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency |
| NCT04536467 | PHASE2 | UNKNOWN | Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients |
| NCT06117982 | PHASE2 | COMPLETED | The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency |
| NCT02912104 | PHASE1 | COMPLETED | A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure |
| NCT03178695 | PHASE1 | COMPLETED | Inovium Ovarian Rejuvenation Trials |
| NCT04815213 | PHASE1 | ACTIVE_NOT_RECRUITING | The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans |
| NCT05138367 | PHASE1 | COMPLETED | Effects of UCA-PSCs in Women With POF |
| NCT06132542 | PHASE1 | UNKNOWN | Autologous ADMSC Transplantation in Patients With POI |
| NCT00948857 | PHASE2/PHASE3 | TERMINATED | Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) |
| NCT04031456 | PHASE2/PHASE3 | RECRUITING | Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients |
| NCT02043743 | PHASE1/PHASE2 | UNKNOWN | Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure |
| NCT02062931 | PHASE1/PHASE2 | UNKNOWN | Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure |
| NCT02151890 | PHASE1/PHASE2 | COMPLETED | Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure |
| NCT02372474 | PHASE1/PHASE2 | COMPLETED | It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure |
| NCT02603744 | PHASE1/PHASE2 | UNKNOWN | Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) |
| NCT02644447 | PHASE1/PHASE2 | COMPLETED | Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF |
| NCT03069209 | PHASE1/PHASE2 | UNKNOWN | Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF) |
| NCT03985462 | PHASE1/PHASE2 | WITHDRAWN | Very Small Embryonic-like Stem Cells for Ovary |
| NCT04009473 | PHASE1/PHASE2 | UNKNOWN | Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation |
| NCT04071574 | PHASE1/PHASE2 | COMPLETED | Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility |
| NCT04922398 | PHASE1/PHASE2 | UNKNOWN | Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency |
| NCT05462379 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment. |
| NCT06202547 | PHASE1/PHASE2 | UNKNOWN | Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure |
| NCT01129947 | EARLY_PHASE1 | WITHDRAWN | The Use of DHEA in Women With Premature Ovarian Failure |
| NCT05522634 | EARLY_PHASE1 | UNKNOWN | A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency |
| NCT07308327 | EARLY_PHASE1 | ACTIVE_NOT_RECRUITING | The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial |
| NCT00001275 | Not specified | COMPLETED | Ovarian Follicle Function in Patients With Primary Ovarian Failure |
| NCT00001306 | Not specified | COMPLETED | Steroid Therapy in Autoimmune Premature Ovarian Failure |
| NCT00006156 | Not specified | COMPLETED | Feasibility Study for Development of an Early Test for Ovarian Failure |
| NCT00119925 | Not specified | UNKNOWN | ‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): allergic disease, primary ovarian failure