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SRSF1 Gene

protein-coding   GIFtS: 63
GCID: GC17M056079

Serine/Arginine-Rich Splicing Factor 1

(Previous names: splicing factor, arginine/serine-rich 1)
(Previous symbol: SFRS1)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Serine/Arginine-Rich Splicing Factor 11 2     ASF-12 3
SFRS11 2 3 5     Pre-MRNA-Splicing Factor SF2, P33 Subunit2 3
Splicing Factor, Arginine/Serine-Rich 11 2 3     SRp30a2 5
ASF2 3 5     Alternate Splicing Factor1
SF22 3 5     P33 Subunit1
Splicing Factor 21 2     Pre-MRNA-Splicing Factor SF21
SR Splicing Factor 11 2     SF2p332
Alternative-Splicing Factor 12 3     SF2P333

External Ids:    HGNC: 107801   Entrez Gene: 64262   Ensembl: ENSG000001364507   OMIM: 6008125   UniProtKB: Q079553   

Export aliases for SRSF1 gene to outside databases

Previous GC identifer: GC17M051439


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SRSF1 Gene:
This gene encodes a member of the arginine/serine-rich splicing factor protein family, and functions in both
constitutive and alternative pre-mRNA splicing. The protein binds to pre-mRNA transcripts and components of the
spliceosome, and can either activate or repress splicing depending on the location of the pre-mRNA binding site.
The protein's ability to activate splicing is regulated by phosphorylation and interactions with other splicing
factor associated proteins. Multiple transcript variants encoding different isoforms have been found for this
gene. In addition, a pseudogene of this gene has been found on chromosome 13. (provided by RefSeq, Sep 2010)

GeneCards Summary for SRSF1 Gene:
SRSF1 (serine/arginine-rich splicing factor 1) is a protein-coding gene. Diseases associated with SRSF1 include cble, and afibrinogenemia. GO annotations related to this gene include RS domain binding and RNA binding. An important paralog of this gene is SRSF5.

UniProtKB/Swiss-Prot: SRSF1_HUMAN, Q07955
Function: Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative
splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and
3'-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5'-splice
site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5'-RGAAGAAC-3' (r=A or G) or
the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5'-CGAGGCG-3' motif in vitro. Three copies of
the octamer constitute a powerful splicing enhancer in vitro, the ASF/SF2 splicing enhancer (ASE) which can
specifically activate ASE-dependent splicing. Isoform ASF-2 and isoform ASF-3 act as splicing repressors. May
function as export adapter involved in mRNA nuclear export through the TAP/NXF1 pathway

Gene Wiki entry for SRSF1 (ASF/SF2) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SRSF1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSRSF1 promoter sequence
   Search Chromatin IP Primers for SRSF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SRSF1


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

Entrez Gene cytogenetic band: 17q22   Ensembl cytogenetic band:  17q22   HGNC cytogenetic band: 17q22

SRSF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRSF1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M056079:  view genomic region     (about GC identifiers)

Start:
56,078,280 bp from pter      End:
56,084,707 bp from pter
Size:
6,428 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SRSF1_HUMAN, Q07955 (See protein sequence)
Recommended Name: Serine/arginine-rich splicing factor 1  
Size: 248 amino acids; 27745 Da
Subunit: Consists of two polypeptides of p32 and p33. In vitro, self-associates and binds SRSF2, SNRNP70 and U2AF1
but not U2AF2. Binds SREK1/SFRS12. Interacts with SAFB/SAFB1. Interacts with PSIP1/LEDGF. Interacts with SRPK1.
Identified in the spliceosome C complex. Interacts with RSRC1 (via Arg/Ser-rich domain). Interacts with
ZRSR2/U2AF1-RS2. Interacts with CCDC55 (via C-terminus). Interacts with SRPK1 and a sliding docking interaction
is essential for its sequential and processive phosphorylation by SRPK1. Interacts with NXF1
6 PDB 3D structures from and Proteopedia for SRSF1:
1X4A (3D)        2M7S (3D)        2M8D (3D)        2O3D (3D)        3BEG (3D)        4C0O (3D)    
Secondary accessions: B2R6Z7 D3DTZ3 Q13809
Alternative splicing: 3 isoforms:  Q07955-1   Q07955-2   Q07955-3   (May be due to intron retention)

Explore the universe of human proteins at neXtProt for SRSF1: NX_Q07955

Explore proteomics data for SRSF1 at MOPED

Post-translational modifications: 

  • Phosphorylated by CLK1, CLK2, CLK3 and CLK4. Phosphorylated by SRPK1 at multiple serines in its RS domain via a
    directional (C-terminal to N-terminal) and a dual-track mechanism incorporating both processive phosphorylation
    (in which the kinase stays attached to the substrate after each round of phosphorylation) and distributive
    phosphorylation steps (in which the kinase and substrate dissociate after each phosphorylation event). The RS
    domain of SRSF1 binds to a docking groove in the large lobe of the kinase domain of SRPK1 and this induces
    certain structural changes in SRPK1 and/or RRM 2 domain of SRSF1, allowing RRM 2 to bind the kinase and initiate
    phosphorylation. The cycles continue for several phosphorylation steps in a processive manner (steps 1-8) until
    the last few phosphorylation steps (approximately steps 9-12). During that time, a mechanical stress induces the
    unfolding of the beta-4 motif in RRM 2, which then docks at the docking groove of SRPK1. This also signals RRM 2
    to begin to dissociate, which facilitates SRSF1 dissociation after phosphorylation is completed1
  • Asymmetrically dimethylated at arginines, probably by PRMT1, methylation promotes localization to nuclear speckles1
  • Ubiquitination2 at Lys30, Lys38, Lys138, Lys174, Lys179
  • Modification sites at PhosphoSitePlus

  • See SRSF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001071634.1  NP_008855.1  

    ENSEMBL proteins: 
     ENSP00000462215   ENSP00000462616   ENSP00000463223   ENSP00000463042   ENSP00000462687  
     ENSP00000463917   ENSP00000258962  
    Reactome Protein details: Q07955

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing
    SRSF: Serine/arginine-rich splicing factors

    2 InterPro protein domains:
     IPR000504 RRM_dom
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry Q07955

    ProtoNet protein and cluster: Q07955

    1 Blocks protein domain: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: SRSF1_HUMAN, Q07955
    Domain: The RRM 2 domain plays an important role in governing both the binding mode and the phosphorylation
    mechanism of the RS domain by SRPK1. RS domain and RRM 2 are uniquely positioned to initiate a highly directional
    (C-terminus to N-terminus) phosphorylation reaction in which the RS domain slides through an extended
    electronegative channel separating the docking groove of SRPK1 and the active site. RRM 2 binds toward the
    periphery of the active site and guides the directional phosphorylation mechanism. Both the RS domain and an RRM
    domain are required for nucleocytoplasmic shuttling
    Similarity: Belongs to the splicing factor SR family
    Similarity: Contains 2 RRM (RNA recognition motif) domains


    SRSF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SRSF1_HUMAN, Q07955
    Function: Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative
    splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and
    3'-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5'-splice
    site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5'-RGAAGAAC-3' (r=A or G) or
    the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5'-CGAGGCG-3' motif in vitro. Three copies of
    the octamer constitute a powerful splicing enhancer in vitro, the ASF/SF2 splicing enhancer (ASE) which can
    specifically activate ASE-dependent splicing. Isoform ASF-2 and isoform ASF-3 act as splicing repressors. May
    function as export adapter involved in mRNA nuclear export through the TAP/NXF1 pathway

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IPI--
    GO:0003729mRNA binding IDA--
    GO:0005515protein binding IPI10196197
         
    SRSF1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for SRSF1:
     Decreased viability  Increased gamma-H2AX phosphory  Synthetic lethal with Ras  Synthetic lethal with imatinib 
     Upregulation of Wnt/beta-caten 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Srsf1):
     cardiovascular system  cellular  mortality/aging  muscle  nervous system 
     vision/eye 

    SRSF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Srsf1tm1.1Xdfu for SRSF1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SRSF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SRSF1

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SRSF1

    miRNA
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    miRTarBase miRNAs that target SRSF1:
    hsa-mir-10b-5p (MIRT006539), hsa-mir-193b-3p (MIRT041396), hsa-mir-16-5p (MIRT031783), hsa-mir-103a-3p (MIRT027043), hsa-mir-149-5p (MIRT045599), hsa-mir-744-5p (MIRT037540), hsa-mir-10a-5p (MIRT006536), hsa-mir-7-5p (MIRT004497), hsa-mir-505-3p (MIRT016250), hsa-mir-423-3p (MIRT042557)

    Block miRNA regulation of human, mouse, rat SRSF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SRSF1 (see all 174):
    hsa-miR-124* hsa-miR-579 hsa-miR-576-3p hsa-miR-100* hsa-miR-640 hsa-miR-3938 hsa-miR-376b hsa-miR-517a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SRSF1_HUMAN, Q07955: Cytoplasm. Nucleus speckle. Note=In nuclear speckles. Shuttles between the nucleus and the
    cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IEA--
    GO:0016607nuclear speck IDA--
    GO:0035145colocalizes with exon-exon junction complex IDA16314458

    SRSF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SRSF1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA processing0.44
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA Splicing - Minor Pathway0.38
    mRNA Splicing0.78
    2RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.80
    mRNA 3-end processing0.80
    Cleavage of Growing Transcript in the Termination Region0.80
    3Transport of Mature Transcript to Cytoplasm
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.93
    Transport of Mature Transcript to Cytoplasm0.93
    4Formation of RNA Pol II elongation complex
    RNA Polymerase II Transcription0.60
    5Gene Expression
    Gene Expression0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for SRSF1
        Translational Control

    1 BioSystems Pathway for SRSF1
        mRNA processing


    5 Reactome Pathways for SRSF1
        mRNA Splicing - Major Pathway
    Transport of Mature mRNA derived from an Intron-Containing Transcript
    mRNA 3'-end processing
    Cleavage of Growing Transcript in the Termination Region
    mRNA Splicing - Minor Pathway


    2 Kegg Pathways  (Kegg details for SRSF1):
        Spliceosome
    Herpes simplex infection


    SRSF1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SRSF1
    Interactions:

        Search GeneGlobe Interaction Network for SRSF1

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

    Selected Interacting proteins for SRSF1 (Q079551, 2, 3 ENSP000002589624) via UniProtKB, MINT, STRING, and/or I2D (see all 918)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DIDO1Q9BTC02, 3, ENSP000002660704MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000266070
    SNRNP70P086212, 3, ENSP000002214484MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000221448
    SF3A2Q154282, 3, ENSP000002214944MINT-5205701 MINT-7947479 I2D: score=2 STRING: ENSP00000221494
    NPM1P067482, 3, ENSP000002969304MINT-75017 MINT-7947479 I2D: score=1 STRING: ENSP00000296930
    RBM39Q144982, 3, ENSP000002533634MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000253363
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000395mRNA 5'-splice site recognition IDA9885563
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0001701in utero embryonic development IEA--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--

    SRSF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SRSF1

    2 Novoseek inferred chemical compound relationships for SRSF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arginine 43.4 3 10092085 (1), 18853456 (1)
    serine 31.1 1 9611241 (1)



    SRSF1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SRSF1 gene (2 alternative transcripts): 
    NM_001078166.1  NM_006924.4  

    Unigene Cluster for SRSF1:

    Serine/arginine-rich splicing factor 1
    Hs.68714  [show with all ESTs]
    Unigene Representative Sequence: NM_001078166
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000582730(uc002ivi.3 uc002ivj.3) ENST00000581497 ENST00000584668
    ENST00000581979 ENST00000584773 ENST00000585096 ENST00000583741 ENST00000258962
    ENST00000578430
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Selected qRT-PCR Assays for microRNAs that regulate SRSF1 (see all 174):
    hsa-miR-124* hsa-miR-579 hsa-miR-576-3p hsa-miR-100* hsa-miR-640 hsa-miR-3938 hsa-miR-376b hsa-miR-517a
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      QuantiFast Probe-based Assays in human, mouse, rat SRSF1

    Additional mRNA sequence: 

    AB062124.1 AB209558.1 AK225711.1 AK289933.1 AK298527.1 AK307360.1 AK312781.1 BC010264.1 
    M69040.1 M72709.1 NR_034041.1 

    Selected DOTS entries (see all 28):

    DT.95317930  DT.100702121  DT.100878381  DT.100683062  DT.95317987  DT.92461044  DT.91996892  DT.120953879 
    DT.308110  DT.100878386  DT.100724456  DT.86841028  DT.120953872  DT.120953824  DT.120953813  DT.120953835 
    DT.120953866  DT.95317845  DT.120953805  DT.40311635  DT.92461026  DT.95317978  DT.120953822  DT.120953864 

    Selected AceView cDNA sequences (see all 814):

    BM712220 AA938318 BM763585 AW342031 AI579965 AI952571 AI084331 BM995354 
    NM_006924 CD674524 AW079331 AA585258 CD722735 AV708747 BQ228378 BM687926 
    BM854488 AL042702 AI129616 BM704050 BE549761 AW006413 BM456870 BU164586 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SRSF1 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b
    SP1:                                                              -                             -               
    SP2:                                -                             -                                             
    SP3:                                -                             -                             -               
    SP4:                                                              -                                             
    SP5:                                -                             -                                             


    ECgene alternative splicing isoforms for SRSF1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SRSF1 expression in normal human tissues (normalized intensities)      SRSF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCGGGATC
    SRSF1 Expression
    About this image


    SRSF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 26) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Limb (Muscoskeletal System)
             Limb Bud
    SRSF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SRSF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.68714
        Custom PCR Arrays for SRSF1
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SRSF1 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Srsf11 , 5 serine/arginine-rich splicing factor 11, 5 94.49(n)1
    100(a)1
      11 (52.40 cM)5
    1108091  NM_173374.41  NP_775550.21 
     880473735 
    chicken
    (Gallus gallus)
    Aves SRSF11 serine/arginine-rich splicing factor 1 87.9(n)
    98.79(a)
      772264  NM_001113741.1  NP_001107213.1 
    lizard
    (Anolis carolinensis)
    Reptilia SRSF16
    serine/arginine-rich splicing factor 1
    99(a)
    1 ↔ 1
    GL344193.1(34598-38309)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC042354.12   -- 88.33(n)    BC042354.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC056752.12   -- 79.13(n)   393565  BC056752.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SF21 SF2 66.48(n)
    70.72(a)
      53443  NM_144354.3  NP_652611.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rsp-31 rsp-3 63.77(n)
    66.85(a)
      176688  NM_067248.4  NP_499649.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NPL36
    RNA-binding protein that promotes elongation, regu...
    18(a)
    1 → many
    IV(1328783-1330027) YDR432W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G024301 AT4G02430 62.13(n)
    60.95(a)
      828027  NM_116476.3  NP_567235.3 
    barley
    (Hordeum vulgare)
    Liliopsida Hv.5602 Transcribed sequence with weak similarity to protein more 72.11(n)    BQ463993.1 


    ENSEMBL Gene Tree for SRSF1 (if available)
    TreeFam Gene Tree for SRSF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SRSF1 gene
    SRSF52  SRSF92  SRSF72  SRSF62  SRSF42  SRSF32  
    11 SIMAP similar genes for SRSF1 using alignment to 5 protein entries:     SRSF1_HUMAN (see all proteins):
    SRSF9    SRSF5    SPEN    SFRS5    RBMX    SRSF6
    SFRS4    CIRBP    SRSF4    SFRS3    RNPS1

    SRSF1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SRSF1
    PGOHUM00000262883 PGOHUM00000262884


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SRSF1 (see all 160)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0354884
    A breast cancer sample4--see VAR_0354882 P S mis40--------
    rs1859090811,2
    --56077883(+) TATTTG/TCTTCA 3 -- ds50010--------
    rs1414561581,2
    --56078142(+) TCAGAA/GCTGTA 3 -- ds50010--------
    rs1452077771,2
    C--56078423(+) GTTATA/GTTACA 3 -- ut31 nc-transcript-variant0--------
    rs2017517321,2
    C--56078528(+) TATAC-/AAGT  
            
    AGTAA
    3 -- ut31 nc-transcript-variant0--------
    rs1476229191,2
    C--56078531(+) CAAAGC/TAAGCA 3 -- ut31 nc-transcript-variant0--------
    rs1892154851,2
    --56078578(+) AATGTA/GAAAAC 3 -- ut31 nc-transcript-variant0--------
    rs88191,2
    C,F,O,A,H--56078738(-) TCCCCG/ATAAAA 3 -- ut31 nc-transcript-variant15Minor allele frequency- A:0.33MN NS EA NA WA CSA 1159
    rs1823658171,2
    --56078788(+) ACTTAA/GCTTAG 3 -- ut31 nc-transcript-variant0--------
    rs345924921,2
    C,F--56079037(+) TTGTAG/CTTTCA 3 -- ut31 nc-transcript-variant10Minor allele frequency- C:0.07NA EA CSA WA 608

    HapMap Linkage Disequilibrium report for SRSF1 (56078280 - 56084707 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SRSF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833497CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SRSF1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600812    OMIM disorders: --

    Selected diseases for SRSF1 (see all 32):    About MalaCards
    cble    afibrinogenemia    homocystinuria    growth hormone deficiency
    acquired immunodeficiency syndrome    spinal muscular atrophy    muscular atrophy    vaccinia
    pituitary adenoma    chronic myeloid leukemia    ataxia    herpes simplex
    breast and colorectal cancer    lymphoblastic leukemia    tonsillitis    adenoma
    systemic lupus erythematosus    hiv-1    lupus erythematosus    sarcoma

    2 diseases from the University of Copenhagen DISEASES database for SRSF1:
    Cancer     Acquired immunodeficiency syndrome

    SRSF1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SRSF1

    Export disorders for SRSF1 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)
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    PubMed articles for SRSF1 gene, integrated from 10 sources (see all 218):
    (articles sorted by number of sources associating them with SRSF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization of mouse and human genes encoding the splicing factors ASF/SF2 (SFRS1) and SC-35 (SFRS2). (PubMed id 8530103)1, 3, 9 Bermingham J.R....Rosenfeld M.G. (Genomics 1995)
    2. Primary structure of the human splicing factor ASF reveals similarities with Drosophila regulators. (PubMed id 1855257)1, 2, 9 Ge H.... Manley J.L. (Cell 1991)
    3. Arginine methylation controls the subcellular localization and functions of the oncoprotein splicing factor SF2/ASF. (PubMed id 20308322)1, 2 Sinha R....Krainer A.R. (Mol. Cell. Biol. 2010)
    4. A rational nomenclature for serine/arginine-rich protein splicing factors (SR proteins). (PubMed id 20516191)1, 3 Manley J.L. and Krainer A.R. (amp 2010)
    5. Regiospecific phosphorylation control of the SR protein ASF/SF2 by SRPK1. (PubMed id 19477182)1, 2 Ma C.T.... Adams J.A. (J. Mol. Biol. 2009)
    6. Rapid and systematic analysis of the RNA recognition specificities of RNA-binding proteins. (PubMed id 19561594)1, 2 Ray D.... Hughes T.R. (Nat. Biotechnol. 2009)
    7. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)1, 2 Choudhary C.... Mann M. (Science 2009)
    8. Adaptable molecular interactions guide phosphorylation of the SR protein ASF/SF2 by SRPK1. (PubMed id 18687337)1, 2 Hagopian J.C.... Adams J.A. (J. Mol. Biol. 2008)
    9. Ordered multi-site phosphorylation of the splicing factor ASF/SF2 by SRPK1. (PubMed id 18155240)1, 2 Ma C.T....Adams J.A. (J. Mol. Biol. 2008)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 6426 HGNC: 10780 AceView: SFRS1 Ensembl:ENSG00000136450 euGenes: HUgn6426
    ECgene: SRSF1 Kegg: 6426 H-InvDB: SRSF1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SRSF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SRSF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SRSF1 gene:
    Search GeneIP for patents involving SRSF1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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