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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SFPQ Gene

protein-coding   GIFtS: 62
GCID: GC01M035641

splicing factor proline/glutamine-rich

(Previous name: splicing factor proline/glutamine rich (polypyrimidine...)
 Explore 19 diseases affiliated with
SFPQ via our new
 Human Malady Compendium 
Biological research products
for SFPQ
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Splicing Factor Proline/Glutamine-Rich1 2     PTB-Associated-Splicing Factor2 3
PSF1 2 3 5     POMP1002
Splicing Factor Proline/Glutamine Rich (Polypyrimidine Tract-Binding
Protein-Associated)1 2
     Polypyrimidine Tract Binding Protein Associated2
Polypyrimidine Tract-Binding Protein-Associated-Splicing Factor2 3     Polypyrimidine Tract-Binding Protein-Associated Splicing Factor2
100 KDa DNA-Pairing Protein2 3     PTB-Associated Splicing Factor2
DNA-Binding P52/P100 Complex, 100 KDa Subunit2 3     Splicing Factor Proline/Glutamine Rich (Polypyrimidine Tract Binding Protein
Associated)2
HPOMp1001     Splicing Factor, Proline- And Glutamine-Rich2

External Ids:    HGNC: 107741   Entrez Gene: 64212   Ensembl: ENSG000001165607   OMIM: 6051995   UniProtKB: P232463   

Export aliases for SFPQ gene to outside databases

Previous GC identifers: GC01M035470 GC01M034705 GC01M035068 GC01M035076 GC01M035312 GC01M035421 GC01M033767


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: SFPQ_HUMAN, P23246
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 may be involved in DNA nonhomologous 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. Transcriptional repression is probably mediated by an interaction of SFPQ with SIN3A and subsequent
recruitment of histone deacetylases (HDACs). The SFPQ-NONO/SF-1 complex binds to the CYP17 promoter and regulates
basal and cAMP-dependent transcriptional avtivity. 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

Gene Wiki entry for SFPQ


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SFPQ gene promoter:
         SRF   LHX3b/Lhx3b   Sp1   p53   RREB-1   SRF (504 AA)   HNF-3beta   S8   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): SFPQ promoter sequence
   Search SABiosciences Chromatin IP Primers for SFPQ

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SFPQ


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34.3   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p34.3

SFPQ Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SFPQ gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M035641:  view genomic region     (about GC identifiers)

Start:
35,641,979 bp from pter      End:
35,658,749 bp from pter
Size:
16,771 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SFPQ_HUMAN, P23246 (See protein sequence)
Recommended Name: Splicing factor, proline- and glutamine-rich  
Size: 707 amino acids; 76149 Da
Subunit: Monomer and component of the SFPQ-NONO complex, which is probably a heterotetramer of two 52 kDa (NONO) and
two 100 kDa (SFPQ) subunits. 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
Subcellular location: Nucleus matrix. Cytoplasm. Note=Predominantly in nuclear matrix
Caution: Was originally (PubMed:2480877) thought to be myoblast cell surface antigen 24.1D5 and a possible
membrane-bound protein ectokinase
Secondary accessions: P30808 Q5SZ71
Alternative splicing: 2 isoforms:  P23246-1   P23246-2   

Explore the universe of human proteins at neXtProt for SFPQ: NX_P23246

Post-translational modifications:

  • The N-terminus is blocked1
  • 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-6871
  • Arg-7, Arg-9, Arg-19 and Arg-25 are dimethylated, probably to asymmetric dimethylarginine1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P23246

  • SFPQ Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005057.1  
    ENSEMBL proteins: 
     ENSP00000425071   ENSP00000424440   ENSP00000349748  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: SFPQ
    OriGene Custom Protein Services for SFPQ 
    GenScript Custom Purified and Recombinant Proteins Services for SFPQ
    Novus Biologicals SFPQ Protein
    Novus Biologicals SFPQ Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SFPQ

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm IDA19874820
    GO:0005737cytoplasm IEA--
    GO:0016363nuclear matrix IDA19874820
    GO:0042382paraspeckles IDA19874820


    SFPQ for ontologies           About GeneDecksing



    SFPQ Antibody Products: 
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    Uscn Antibodies for SFPQ
    ThermoFisher Antibodies for SFPQ

    Assay Products for SFPQ: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
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    Uscn ELISAs and CLIAs for SFPQ


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SFPQ for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR012975 NOPS
     IPR000504 RRM_dom
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry P23246

    ProtoNet protein and cluster: P23246

    2 Blocks protein families:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB012975 NOPS


    UniProtKB/Swiss-Prot: SFPQ_HUMAN, P23246
    Similarity: Contains 2 RRM (RNA recognition motif) domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SFPQ_HUMAN, P23246
    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 may be involved in DNA nonhomologous 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. Transcriptional repression is probably mediated by an interaction of SFPQ with SIN3A and subsequent
    recruitment of histone deacetylases (HDACs). The SFPQ-NONO/SF-1 complex binds to the CYP17 promoter and regulates
    basal and cAMP-dependent transcriptional avtivity. 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

         Genatlas biochemistry entry for SFPQ:
    splicing factor proline/glutamine rich,widely expressed,interacting with polypyrimidine tract-binding protein
    PTB,essential factor in pre mRNA required early in spliceosome formation

    miRNA
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    miRTarBase miRNAs that target SFPQ:
    hsa-mir-29b (MIRT002310), hsa-mir-141 (MIRT002309)

    OriGene 3'-UTR Clone: SFPQ
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SFPQ
    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate SFPQ (see all 19):
    hsa-miR-217 hsa-miR-495 hsa-miR-3673 hsa-miR-520d-5p hsa-miR-200a hsa-miR-138-2* hsa-miR-141 hsa-miR-550b
    SwitchGear 3'UTR luciferase reporter plasmidSFPQ 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SFPQ (see all 7)
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    OriGene siRNA: SFPQ
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SFPQ

    Gene Editing
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    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SFPQ 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFPQ

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI19874820


    SFPQ for ontologies           About GeneDecksing


    9 GenomeRNAi human phenotypes for SFPQ:
     Decreased BPV1 E2 protein expr  Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 
     Decreased viability  Increased G2M DNA content  Increased HPV18 LCR reporter a  Low eccentricity cells 
     Synthetic lethal with Ras 

    Animal Models:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sfpq):
     behavior/neurological  mortality/aging 

    SFPQ for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transcription_Sin3 and NuRD in transcription regulation
    Transcription_Sin3 and NuRD in transcription regulation1.00
    Transcription Sin3 and NuRD in transcription regulation0.96
    2mRNA Splicing - Major Pathway
    mRNA processing0.48

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SFPQ
        Transcription Sin3 and NuRD in transcription regulation


    1 GeneGo (Thomson Reuters) Pathway for SFPQ
        Transcription Sin3 and NuRD in transcription regulation

    1 BioSystems Pathway for SFPQ 
        mRNA processing



    SFPQ for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SFPQ

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/836 Interacting proteins for SFPQ (P232461, 2, 3 ENSP000003497484) via UniProtKB, MINT, STRING, and/or I2D (see all 836)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTBP1P265991, 2, 3, ENSP000003494284EBI-355453,EBI-744534 MINT-62329 MINT-7945693 MINT-62328 MINT-7947479 I2D: score=5 STRING: ENSP00000349428
    PTK6Q138822, 3, ENSP000002171854MINT-7231528 MINT-7231563 MINT-7231550 MINT-7231537 MINT-7231572 I2D: score=1 STRING: ENSP00000217185
    ZMYM2Q9UBW72, 3, ENSP000003723224MINT-62330 MINT-62323 MINT-62320 MINT-62322 I2D: score=3 STRING: ENSP00000372322
    FUSP356372, 3, ENSP000002541084MINT-7945693 MINT-7947479 MINT-62325 I2D: score=2 STRING: ENSP00000254108
    SMN1Q166372, 3, ENSP000003700834MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000370083
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP--
    GO:0000380alternative mRNA splicing, via spliceosome IMP19874820
    GO:0006281DNA repair IEA--
    GO:0006310DNA recombination IEA--
    GO:0006351transcription, DNA-dependent IEA--


    SFPQ for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SFPQ for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SFPQ

    1 HMDB Compound for SFPQ    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    5 Novoseek chemical compound relationships for SFPQ gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyrimidine 49.2 4 15790595 (1), 18689799 (1), 16731528 (1), 9756848 (1)
    steroid 14.1 2 14704271 (1)
    progesterone 11 1 17452459 (1)
    testosterone 0 3 17452459 (3)
    serine 0 1 11956159 (1)

    Search CenterWatch for drugs/clinical trials and news about SFPQ 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SFPQ gene: 
    NM_005066.2  

    Unigene Cluster for SFPQ:

    Splicing factor proline/glutamine-rich
    Hs.355934  [show with all ESTs]
    Unigene Representative Sequence: NM_005066
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471991 ENST00000468598(uc001byq.3 uc001byp.3) ENST00000460428
    ENST00000470472 ENST00000466745 ENST00000466213 ENST00000490668 ENST00000485365
    ENST00000485454 ENST00000357214(uc001bys.3)

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    hsa-miR-217 hsa-miR-495 hsa-miR-3673 hsa-miR-520d-5p hsa-miR-200a hsa-miR-138-2* hsa-miR-141 hsa-miR-550b
    SwitchGear 3'UTR luciferase reporter plasmidSFPQ 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SFPQ
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: SFPQ (NM_005066)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SFPQ
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SFPQ 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SFPQ
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SFPQ

    Additional cDNA sequence: 

    AK307985.1 BC000546.1 BC004534.2 BC027708.2 BC027717.2 BC051192.1 X16850.1 X70944.1 

    24/26 DOTS entries (see all 26):

    DT.75196114  DT.101972073  DT.100653960  DT.102845502  DT.100653959  DT.100661260  DT.95078264  DT.438333 
    DT.92460669  DT.95155156  DT.92068655  DT.75169531  DT.121400134  DT.91959051  DT.92460652  DT.95260170 
    DT.95260223  DT.121400203  DT.121623703  DT.40118300  DT.92460649  DT.92460667  DT.95240902  DT.95260201 

    24/810 AceView cDNA sequences (see all 810):

    AI291037 BQ685303 BQ690254 N47821 BM912593 BM979983 BU683571 R50480 
    Z40374 BQ689699 BQ687768 AA236823 BU155004 BQ917666 AI809970 BE327807 
    T30879 CB216079 AW471056 AI243478 AI051242 AI949230 CA426545 AA496894 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SFPQ    About this scheme

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


    ECgene alternative splicing isoforms for SFPQ

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SFPQ expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGTACTGAGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SFPQ expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SFPQ Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SFPQ

    SOURCE GeneReport for Unigene cluster: Hs.355934
        SABiosciences Custom PCR Arrays for SFPQ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SFPQ gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SFPQ1 splicing factor proline/glutamine-rich 76.48(n)
    83.62(a)
      395803  XM_417784.3  XP_417784.3 
    lizard
    (Anolis carolinensis)
    Reptilia SFPQ6
    --
    75(a)
    1 ↔ 1
    GL343558.1(347877-357044)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.18072 Xenopus laevis transcribed sequence with moderate similarity more 83.4(n)    BQ729996.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sfpq1 splicing factor proline/glutamine rich (polypyrimidine more 61.53(n)
    62.66(a)
      406564  NM_213278.1  NP_998443.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nonA1 no on or off transient A 48.35(n)
    41.63(a)
      32603  NM_078643.2  NP_523367.2 
    worm
    (Caenorhabditis elegans)
    Secernentea psf-16
    Polypyrimidine-tract-binding protein (PTB)-associa...
    31(a)
    1 → many
    III(5953477-5958197)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SFPQ gene
    NONO2  PSPC12  
    3 SIMAP similar genes for SFPQ using alignment to 6 protein entries:     SFPQ_HUMAN (see all proteins):
    PSPC1    NONO    RBM4B

    SFPQ for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SFPQ
    PGOHUM00000233958


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/252 NCBI SNPs in SFPQ are shown (see all 252    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs37683381,2
    C,H--33768283(+) CAAAGG/AGGGCA 2 -- us2k15Minor allele frequency- A:0.00NS EA NA 416
    rs1158090181,2
    C,--33768322(+) CCAGAT/CGNNNN 2 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1151747621,2
    C,--33768323(+) CAGATG/ACATTT 2 -- us2k11Minor allele frequency- A:0.01WA 118
    rs729089701,2
    C,F,--33768687(+) AGATAG/ACTTTC 2 -- us2k13Minor allele frequency- A:0.22WA CSA 122
    rs716386551,2
    C,--35648706(+) CTCTT-/AGAAG 
            
    AGAAC
    3 -- us2k1 ds50010--------
    rs1146344911,2
    --35648799(+) TATATA/GTAACT 3 -- us2k1 ds50011Minor allele frequency- G:0.01WA 118
    rs2008313131,2
    --35648825(+) CTAAA-/CCTTTT 3 -- ds5001 us2k10--------
    rs782945281,2
    C--35648826(+) TAAACC/TTTTTT 3 -- us2k1 ds50010--------
    rs1470511441,2
    C,--35648826(+) TAAAC-/CTTTTTT 3 -- us2k1 ds50010--------
    rs1499372011,2
    --35648947(+) CCGAGC/TAGCTG 3 -- ds5001 us2k10--------

    HapMap Linkage Disequilibrium report for SFPQ (35641979 - 35658749 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SFPQ: --
    Human Gene Mutation Database (HGMD): SFPQ

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SFPQ for disorders           About GeneDecksing

    OMIM gene information: 605199    OMIM disorders: --

    UniProtKB/Swiss-Prot: SFPQ_HUMAN, P23246
  • 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

    19 diseases for SFPQ:    About MalaCards
    dna topoisomerase i    anaplastic large cell lymphoma    papillary renal cell carcinoma    renal cell carcinoma
    myotonic dystrophy    adrenal neuroblastoma    fanconi's anemia    dyslexia
    parkinson's disease    endometrial cancer    anemia    neuroblastoma
    sarcoma    carcinoma    tuberculosis    immunodeficiency
    hepatitis    neuronitis    mycobacterium tuberculosis


    Export disorders for SFPQ gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SFPQ gene, integrated from 9 sources (see all 148):
    (articles sorted by number of sources associating them with SFPQ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of PSF, a novel pre-mRNA splicing factor. (PubMed id 8449401)1, 2, 3, 9 Patton J.G.... Nadal-Ginard B. (1993)
    2. The PSF.p54nrb complex is a novel Mnk substrate that binds the mRNA for tumor necrosis factor alpha. (PubMed id 17965020)1, 2, 9 Buxade M....Proud C.G. (2008)
    3. NPM/ALK binds and phosphorylates the RNA/DNA-binding protein PSF in anaplastic large-cell lymphoma. (PubMed id 17537995)1, 2, 9 Galietta A....Gambacorti-Passerini C. (2007)
    4. PSF is a novel corepressor that mediates its effect through Sin3A and the DNA binding domain of nuclear hormone receptors. (PubMed id 11259580)1, 2, 9 Mathur M.... Samuels H.H. (2001)
    5. The snRNP-free U1A (SF-A) complex(es): identification of the largest subunit as PSF, the polypyrimidine-tract binding protein-associated splicing factor. (PubMed id 9848648)1, 2, 9 Lutz C.S.... Alwine J.C. (1998)
    6. The RNA-splicing factor PSF/p54 controls DNA-topoisomerase I activity by a direct interaction. (PubMed id 9756848)1, 2, 9 Straub T.... Boege F. (1998)
    7. Transcriptional activation of human CYP17 in H295R adrenocortical cells depends on complex formation among p54(nrb)/NonO, protein- associated splicing factor, and SF-1, a complex that also participates in repression of transcription. (PubMed id 11897684)1, 2, 9 Sewer M.B....Waterman M.R. (2002)
    8. Human 100-kDa homologous DNA-pairing protein is the splicing factor PSF and promotes DNA strand invasion. (PubMed id 10931916)1, 2, 9 Akhmedov A.T. and Lopez B.S. (2000)
    9. Proteomic identification of a PSF/p54nrb heterodimer as RNF43 oncoprotein-interacting proteins. (PubMed id 18655028)1, 2, 9 Miyamoto K.... Sugiura T. (2008)
    10. Identification of the polypyrimidine tract binding protein-associated splicing factor.p54(nrb) complex as a candidate DNA double-strand break rejoining factor. (PubMed id 15590677)1, 2, 9 Bladen C.L.... Dynan W.S. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6421 HGNC: 10774 AceView: SFPQ Ensembl:ENSG00000116560 euGenes: HUgn6421
    ECgene: SFPQ H-InvDB: SFPQ

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SFPQ Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SFPQ Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SFPQ gene:
    Search GeneIP for patents involving SFPQ

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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