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Aliases for SFPQ Gene

Aliases for SFPQ Gene

  • Splicing Factor Proline And Glutamine Rich 2 3 5
  • Polypyrimidine Tract Binding Protein Associated 2 3
  • Protein Phosphatase 1, Regulatory Subunit 140 2 3
  • DNA-Binding P52/P100 Complex, 100 KDa Subunit 3 4
  • Splicing Factor Proline/Glutamine-Rich 2 3
  • 100 KDa DNA-Pairing Protein 3 4
  • PSF 3 4
  • Splicing Factor Proline/Glutamine Rich (Polypyrimidine Tract-Binding Protein-Associated) 2
  • Splicing Factor Proline/Glutamine Rich (Polypyrimidine Tract Binding Protein Associated) 3
  • Polypyrimidine Tract-Binding Protein-Associated Splicing Factor 3
  • Polypyrimidine Tract-Binding Protein-Associated-Splicing Factor 4
  • Splicing Factor, Proline- And Glutamine-Rich 3
  • PTB-Associated Splicing Factor 3
  • PTB-Associated-Splicing Factor 4
  • PPP1R140 3
  • HPOMp100 4
  • POMP100 3

External Ids for SFPQ Gene

Previous GeneCards Identifiers for SFPQ Gene

  • GC01M035470
  • GC01M034705
  • GC01M035068
  • GC01M035076
  • GC01M035312
  • GC01M035421
  • GC01M035641
  • GC01M033767

Summaries for SFPQ Gene

GeneCards Summary for SFPQ Gene

SFPQ (Splicing Factor Proline And Glutamine Rich) is a Protein Coding gene. Diseases associated with SFPQ include Renal Cell Carcinoma, Xp11-Associated and Adrenal Neuroblastoma. Among its related pathways are mRNA Splicing - Major Pathway and Signaling by PTK6. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is PSPC1.

UniProtKB/Swiss-Prot for SFPQ Gene

  • 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 (PubMed:25765647). 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 transcriptional activator (PubMed:25765647). 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 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 IGF-I-stimulated transcriptional activity. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation (By similarity). Required for the assembly of nuclear speckles (PubMed:25765647). 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 (PubMed:28712728).

Gene Wiki entry for SFPQ Gene

Additional gene information for SFPQ Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SFPQ Gene

Genomics for SFPQ Gene

GeneHancer (GH) Regulatory Elements for SFPQ Gene

Promoters and enhancers for SFPQ Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I035189 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 625 +1.4 1449 5 HDGF HNRNPUL1 PKNOX1 CLOCK FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 SFPQ ZMYM1 LOC653160 ENSG00000230163 ZMYM6 LOC105378647 RPL5P4 AGO4 TMEM35B COL8A2
GH01I036154 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 138.5 -963.5 -963509 4.5 PKNOX1 SMAD1 ARID4B SIN3A ZNF2 ZBTB7B POLR2B ZNF213 ZNF143 ZNF548 MAP7D1 TRAPPC3 SFPQ ZMYM4 AGO3 RPL5P4 THRAP3 COL8A2 EVA1B LOC105378647
GH01I035856 Enhancer 0.8 dbSUPER 132.5 -664.3 -664261 2 PKNOX1 ZNF493 ZNF529 ZFP64 RAD21 ZNF213 ZNF354C ZNF202 ZNF680 ZBTB11 GC01P035856 SFPQ ZMYM1 ZMYM6 ZMYM4 LOC653160 AGO3 RPL5P4 THRAP3 COL8A2
GH01I036148 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 37.8 -957.7 -957690 4.9 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 TRAPPC3 SFPQ MAP7D1 AGO3 STK40 ZMYM4 THRAP3 COL8A2 LOC105378647 EVA1B
GH01I035553 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 35.4 -363.7 -363708 6 MLX FEZF1 DMAP1 YBX1 YY1 ZNF213 ZNF143 SP3 NFYC ZFP41 KIAA0319L NCDN ZMYM4 ZMYM6 SFPQ AGO3 ZMYM1 LOC653160 ENSG00000230163 TRAPPC3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SFPQ on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SFPQ gene promoter:

Genomic Locations for SFPQ Gene

Genomic Locations for SFPQ Gene
chr1:35,176,378-35,193,158
(GRCh38/hg38)
Size:
16,781 bases
Orientation:
Minus strand
chr1:35,641,979-35,658,749
(GRCh37/hg19)

Genomic View for SFPQ Gene

Genes around SFPQ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFPQ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFPQ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFPQ Gene

Proteins for SFPQ Gene

  • Protein details for SFPQ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23246-SFPQ_HUMAN
    Recommended name:
    Splicing factor, proline- and glutamine-rich
    Protein Accession:
    P23246
    Secondary Accessions:
    • P30808
    • Q5SZ71

    Protein attributes for SFPQ Gene

    Size:
    707 amino acids
    Molecular mass:
    76149 Da
    Quaternary structure:
    • Heterodimer with NONO (PubMed:25765647). Monomer and component of the SFPQ-NONO complex, which is probably a heterotetramer of two 52 kDa (NONO) and two 100 kDa (SFPQ) subunits (PubMed:8439294, PubMed:25765647). The coiled coil domain mediates interaction with NONO, and can also mediate formation of long, linear homooligomers (in vitro) (PubMed:25765647). SFPQ is a component of spliceosome and U5.4/6 snRNP complexes (PubMed:9409622, PubMed:8045264, PubMed:12403470). Interacts with SNRPA/U1A (PubMed:9848648). Component of a snRNP-free complex with SNRPA/U1A (PubMed:9848648). Part of complex consisting of SFPQ, NONO and MATR3 (PubMed:11525732). Interacts with polypyrimidine tract-binding protein 1/PTB (PubMed:10653975). Part of a complex consisting of SFPQ, NONO and NR5A1 (PubMed:11897684). Interacts with RXRA, probably THRA, and SIN3A (PubMed:11259580). Interacts with TOP1 (PubMed:9756848). Part of a complex consisting of SFPQ, NONO and TOP1 (PubMed:9756848). Interacts with SNRNP70 in apoptotic cells (PubMed:11514619). Interacts with PSPC1. Interacts with RNF43 (PubMed:18655028). Interacts with PITX3 and NR4A2/NURR1 (By similarity). Interacts with PTK6 (PubMed:19439179). 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 (PubMed:20932480). The large PER complex involved in the histone deacetylation is composed of at least HDAC1, PER2, SFPQ and SIN3A. Interacts with PER1 and PER2 (By similarity). Interacts with PQBP1 (PubMed:21933836).
    • (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.

    Three dimensional structures from OCA and Proteopedia for SFPQ Gene

    Alternative splice isoforms for SFPQ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SFPQ Gene

Post-translational modifications for SFPQ Gene

  • 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.
  • The N-terminus is blocked.
  • Ubiquitination at isoforms=2279, posLast=319319, isoforms=2330, isoforms=2338, and isoforms=2413
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SFPQ Gene

Domains & Families for SFPQ Gene

Gene Families for SFPQ Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Graphical View of Domain Structure for InterPro Entry

P23246

UniProtKB/Swiss-Prot:

SFPQ_HUMAN :
  • 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.
Domain:
  • 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.
genes like me logo Genes that share domains with SFPQ: view

Function for SFPQ Gene

Molecular function for SFPQ Gene

GENATLAS Biochemistry:
splicing factor proline/glutamine rich,widely expressed,interacting with polypyrimidine tract-binding protein PTB,essential factor in pre mRNA required early in spliceosome formation
UniProtKB/Swiss-Prot 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 (PubMed:25765647). 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 transcriptional activator (PubMed:25765647). 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 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 IGF-I-stimulated transcriptional activity. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation (By similarity). Required for the assembly of nuclear speckles (PubMed:25765647). 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 (PubMed:28712728).

Phenotypes From GWAS Catalog for SFPQ Gene

Gene Ontology (GO) - Molecular Function for SFPQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IEA,ISS --
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA,ISS --
GO:0001047 core promoter binding ISS,IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IDA,IEA 25765647
genes like me logo Genes that share ontologies with SFPQ: view
genes like me logo Genes that share phenotypes with SFPQ: view

Clone Products

  • Addgene plasmids for SFPQ

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SFPQ Gene

Localization for SFPQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFPQ Gene

Nucleus speckle. Nucleus matrix. Cytoplasm. Note=Predominantly in nuclear matrix. {ECO:0000269 PubMed:19439179}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SFPQ gene
Compartment Confidence
nucleus 5
extracellular 4
mitochondrion 2
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SFPQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 16731528
GO:0005634 nucleus IDA 15790595
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0016363 nuclear matrix IDA 19874820
genes like me logo Genes that share ontologies with SFPQ: view

Pathways & Interactions for SFPQ Gene

genes like me logo Genes that share pathways with SFPQ: view

Pathways by source for SFPQ Gene

1 GeneGo (Thomson Reuters) pathway for SFPQ Gene

SIGNOR curated interactions for SFPQ Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SFPQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 22783022
GO:0000380 alternative mRNA splicing, via spliceosome IMP 19874820
GO:0000724 double-strand break repair via homologous recombination IMP 20813759
GO:0002218 activation of innate immune response IDA 28712728
GO:0002376 immune system process IEA --
genes like me logo Genes that share ontologies with SFPQ: view

Drugs & Compounds for SFPQ Gene

(5) Drugs for SFPQ Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
cyclic amp Experimental Pharma 0

(2) Additional Compounds for SFPQ Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SFPQ: view

Transcripts for SFPQ Gene

Unigene Clusters for SFPQ Gene

Splicing factor proline/glutamine-rich:
Representative Sequences:

Clone Products

  • Addgene plasmids for SFPQ

Alternative Splicing Database (ASD) splice patterns (SP) for SFPQ Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for SFPQ Gene

GeneLoc Exon Structure for
SFPQ
ECgene alternative splicing isoforms for
SFPQ

Expression for SFPQ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SFPQ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SFPQ Gene

This gene is overexpressed in Lymph node (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SFPQ Gene



Protein tissue co-expression partners for SFPQ Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SFPQ Gene:

SFPQ

SOURCE GeneReport for Unigene cluster for SFPQ Gene:

Hs.355934

Evidence on tissue expression from TISSUES for SFPQ Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Muscle(4.4)
  • Pancreas(3.6)
  • Lung(3.1)
  • Kidney(2.7)
  • Skin(2.7)
  • Intestine(2.6)
  • Bone marrow(2.5)
  • Adrenal gland(2.4)
  • Spleen(2.4)
  • Eye(2.3)
  • Heart(2.2)
  • Lymph node(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SFPQ Gene

Germ Layers:
  • mesoderm
Systems:
  • urinary
Regions:
Abdomen:
  • kidney
genes like me logo Genes that share expression patterns with SFPQ: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SFPQ Gene

Orthologs for SFPQ Gene

This gene was present in the common ancestor of animals.

Orthologs for SFPQ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SFPQ 33 34
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 98 (a)
OneToMany
SFPQ 33
  • 90.76 (n)
-- 34
  • 90 (a)
OneToMany
-- 34
  • 87 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SFPQ 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SFPQ 33 34
  • 94.49 (n)
mouse
(Mus musculus)
Mammalia Sfpq 33 16 34
  • 92.08 (n)
rat
(Rattus norvegicus)
Mammalia Sfpq 33
  • 92.08 (n)
oppossum
(Monodelphis domestica)
Mammalia SFPQ 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves SFPQ 33 34
  • 82.46 (n)
lizard
(Anolis carolinensis)
Reptilia SFPQ 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1954 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1807 33
zebrafish
(Danio rerio)
Actinopterygii sfpq 33 34
  • 67.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta nonA-l 34
  • 30 (a)
ManyToMany
nonA 34
  • 28 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea nono-1 34
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToMany
Species where no ortholog for SFPQ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SFPQ Gene

ENSEMBL:
Gene Tree for SFPQ (if available)
TreeFam:
Gene Tree for SFPQ (if available)

Paralogs for SFPQ Gene

Paralogs for SFPQ Gene

(3) SIMAP similar genes for SFPQ Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for SFPQ Gene

genes like me logo Genes that share paralogs with SFPQ: view

Variants for SFPQ Gene

Sequence variations from dbSNP and Humsavar for SFPQ Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000109361 -- 35,181,081(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000112358 -- 35,185,214(-) G/T intron_variant
rs1000152345 -- 35,183,735(-) A/T 3_prime_UTR_variant, intron_variant
rs1000373238 -- 35,183,953(-) T/A 3_prime_UTR_variant, intron_variant
rs1000477142 -- 35,178,228(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SFPQ Gene

Variant ID Type Subtype PubMed ID
nsv508149 CNV deletion 20534489

Variation tolerance for SFPQ Gene

Residual Variation Intolerance Score: 15.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SFPQ Gene

Human Gene Mutation Database (HGMD)
SFPQ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFPQ

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFPQ Gene

Disorders for SFPQ Gene

MalaCards: The human disease database

(2) MalaCards diseases for SFPQ Gene - From: HGMD, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
renal cell carcinoma, xp11-associated
  • rccx1
adrenal neuroblastoma
  • neuroblastoma of adrenal gland
- elite association - COSMIC cancer census association via MalaCards
Search SFPQ in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SFPQ_HUMAN
  • Note=A chromosomal aberration involving SFPQ may be a cause of papillary renal cell carcinoma (PRCC). Translocation t(X;1)(p11.2;p34) with TFE3.

Additional Disease Information for SFPQ

genes like me logo Genes that share disorders with SFPQ: view

No data available for Genatlas for SFPQ Gene

Publications for SFPQ Gene

  1. Cloning and characterization of PSF, a novel pre-mRNA splicing factor. (PMID: 8449401) Patton JG … Nadal-Ginard B (Genes & development 1993) 2 3 4 22 58
  2. The PSF.p54nrb complex is a novel Mnk substrate that binds the mRNA for tumor necrosis factor alpha. (PMID: 17965020) Buxadé M … Proud CG (The Journal of biological chemistry 2008) 3 4 22 58
  3. Proteomic identification of a PSF/p54nrb heterodimer as RNF43 oncoprotein-interacting proteins. (PMID: 18655028) Miyamoto K … Sugiura T (Proteomics 2008) 3 4 22 58
  4. NPM/ALK binds and phosphorylates the RNA/DNA-binding protein PSF in anaplastic large-cell lymphoma. (PMID: 17537995) Galietta A … Gambacorti-Passerini C (Blood 2007) 3 4 22 58
  5. Identification of the polypyrimidine tract binding protein-associated splicing factor.p54(nrb) complex as a candidate DNA double-strand break rejoining factor. (PMID: 15590677) Bladen CL … Dynan WS (The Journal of biological chemistry 2005) 3 4 22 58

Products for SFPQ Gene

  • Addgene plasmids for SFPQ

Sources for SFPQ Gene

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