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SRSF5 Gene

protein-coding   GIFtS: 60
GCID: GC14P070234

Serine/Arginine-Rich Splicing Factor 5

(Previous names: splicing factor, arginine/serine-rich 5)
(Previous symbol: SFRS5)
  See SRSF5-related disease
at  

(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 51 2     Pre-MRNA-Splicing Factor SRP402 3
SFRS51 2 3 5     HRS2 3
Splicing Factor, Arginine/Serine-Rich 51 2 3     SRP402 3
SR Splicing Factor 51 2     SRp405
Delayed-Early Protein HRS2 3     

External Ids:    HGNC: 107871   Entrez Gene: 64302   Ensembl: ENSG000001006507   OMIM: 6009145   UniProtKB: Q132433   

Export aliases for SRSF5 gene to outside databases

Previous GC identifer: GC14P050402


(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 SRSF5 Gene:
The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors,
which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for
binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues
and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA
splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation.
Two transcript variants encoding the same protein have been found for this gene. (provided by RefSeq, Sep 2010)

GeneCards Summary for SRSF5 Gene:
SRSF5 (serine/arginine-rich splicing factor 5) is a protein-coding gene. Diseases associated with SRSF5 include pyruvate decarboxylase deficiency. GO annotations related to this gene include RS domain binding and RNA binding. An important paralog of this gene is SRSF9.

UniProtKB/Swiss-Prot: SRSF5_HUMAN, Q13243
Function: Plays a role in constitutive splicing and can modulate the selection of alternative splice sites

Gene Wiki entry for SRSF5 (SFRS5) 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 at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SRSF5
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSRSF5 promoter sequence
   Search Chromatin IP Primers for SRSF5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SRSF5


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

Entrez Gene cytogenetic band: 14q24   Ensembl cytogenetic band:  14q24.1   HGNC cytogenetic band: 14q24

SRSF5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRSF5 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P070234:  view genomic region     (about GC identifiers)

Start:
70,193,617 bp from pter      End:
70,238,722 bp from pter
Size:
45,106 bases      Orientation:
plus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SRSF5_HUMAN, Q13243 (See protein sequence)
Recommended Name: Serine/arginine-rich splicing factor 5  
Size: 272 amino acids; 31264 Da
Subunit: Interacts (via RS domain) with PHF5A (via N-terminus) (By similarity). Found in a pre-mRNA splicing
complex with SRSF4/SFRS4, SRSF5/SFRS5, SNRNP70, SNRPA1, SRRM1 and SRRM2
Sequence caution: Sequence=AAC39543.1; Type=Frameshift; Positions=113, 140;
Secondary accessions: O14797 Q16662 Q49AD6 Q6FGE0
Alternative splicing: 4 isoforms:  Q13243-1   Q13243-2   Q13243-4   Q13243-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SRSF5: NX_Q13243

Explore proteomics data for SRSF5 at MOPED

Post-translational modifications: 

  • Extensively phosphorylated on serine residues in the RS domain (By similarity)1
  • Ubiquitination2 at Lys125
  • Modification sites at PhosphoSitePlus

  • See SRSF5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001034554.1  NP_008856.2  

    ENSEMBL proteins: 
     ENSP00000452123   ENSP00000377892   ENSP00000452400   ENSP00000452449   ENSP00000451088  
     ENSP00000451391   ENSP00000474409   ENSP00000452090   ENSP00000450918   ENSP00000402734  
    Reactome Protein details: Q13243

    SRSF5 Human Recombinant Protein Products:

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    Novus Biologicals SRSF5 Proteins
    Novus Biologicals SRSF5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SRSF5

     
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    antibodies-online proteins for SRSF5 (5 products) 

     
    antibodies-online peptides for SRSF5

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    antibodies-online antibodies for SRSF5 (17 products) 

    SRSF5 Assay Products:

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    Search eBioscience for ELISAs for SRSF5 
    antibodies-online kits for SRSF5 (4 products) 


    (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 Q13243

    ProtoNet protein and cluster: Q13243

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

    UniProtKB/Swiss-Prot: SRSF5_HUMAN, Q13243
    Similarity: Belongs to the splicing factor SR family
    Similarity: Contains 2 RRM (RNA recognition motif) domains


    Find genes that share domains with SRSF5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SRSF5_HUMAN, Q13243
    Function: Plays a role in constitutive splicing and can modulate the selection of alternative splice sites

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI12762840
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with SRSF5           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SRSF5

    miRNA
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    miRTarBase miRNAs that target SRSF5:
    hsa-mir-1 (MIRT024020), hsa-mir-92a-3p (MIRT049180), hsa-mir-124-3p (MIRT023067), hsa-mir-1236-3p (MIRT036252)

    Block miRNA regulation of human, mouse, rat SRSF5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SRSF5 (see all 16):
    hsa-miR-181c hsa-miR-1283 hsa-miR-520d-5p hsa-miR-218-2* hsa-miR-181a hsa-miR-181d hsa-miR-1305 hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidSRSF5 3' UTR sequence
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    Sino Biological Human cDNA Clone for SRSF5
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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
    SRSF5_HUMAN, Q13243: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0016607nuclear speck ISS--

    Find genes that share ontologies with SRSF5           About GenesLikeMe


    (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 SRSF5 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA Splicing0.78
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA processing0.44
    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


    Find genes that share SuperPaths with SRSF5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SRSF5
        mRNA processing


    4 Reactome Pathways for SRSF5
        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


    2 Kegg Pathways  (Kegg details for SRSF5):
        Spliceosome
    Herpes simplex infection

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SRSF5
    Interactions:

        Search GeneGlobe Interaction Network for SRSF5

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

    Selected Interacting proteins for SRSF5 (Q132432, 3 ENSP000003778924) via UniProtKB, MINT, STRING, and/or I2D (see all 793)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SF3A2Q154282, 3, ENSP000002214944MINT-5205737 I2D: score=1 STRING: ENSP00000221494
    SRRM1Q8IYB32, 3, ENSP000003262614MINT-7945693 I2D: score=1 STRING: ENSP00000326261
    TNK2Q079122, 3MINT-64703 I2D: score=3 
    MAPK6Q166592, 3MINT-8261945 I2D: score=2 
    CALM1P621583I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--
    GO:0006376mRNA splice site selection TAS7556075
    GO:0006397mRNA processing TAS7556075

    Find genes that share ontologies with SRSF5           About GenesLikeMe



    (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 SRSF5

    3 Novoseek inferred chemical compound relationships for SRSF5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 43.7 8 11283022 (2), 11815617 (1), 20304996 (1), 10857791 (1) (see all 5)
    arginine 34.4 1 10857791 (1)
    phosphatidylinositol 17.7 2 11283022 (2)



    Find genes that share compounds with SRSF5           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SRSF5 gene (2 alternative transcripts): 
    NM_001039465.1  NM_006925.3  

    Unigene Cluster for SRSF5:

    Serine/arginine-rich splicing factor 5
    Hs.632326  [show with all ESTs]
    Unigene Representative Sequence: BC040209
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000553521(uc021rvj.1 uc001xll.3 uc001xlp.3) ENST00000394366(uc001xlo.3)
    ENST00000554465(uc001xln.1) ENST00000553548 ENST00000553369 ENST00000557435
    ENST00000557154 ENST00000553635 ENST00000556184 ENST00000557460 ENST00000556587
    ENST00000555547 ENST00000556436 ENST00000555412 ENST00000555349 ENST00000554021
    ENST00000556330 ENST00000556647
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SRSF5 (see all 16):
    hsa-miR-181c hsa-miR-1283 hsa-miR-520d-5p hsa-miR-218-2* hsa-miR-181a hsa-miR-181d hsa-miR-1305 hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidSRSF5 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat SRSF5
      Search QuantiFast Probe-based Assays in human, mouse, rat SRSF5

    Additional mRNA sequence: 

    AB451250.1 AB451374.1 AF070562.1 AK296113.1 AK300560.1 AK311805.1 BC018823.2 BC029984.2 
    BC040209.1 BT007089.1 CR542167.1 CR542182.1 U30826.1 U30884.1 

    Selected DOTS entries (see all 49):

    DT.95169771  DT.100685580  DT.100685567  DT.95169753  DT.100039144  DT.100763204  DT.95169772  DT.120761932 
    DT.120761839  DT.100685578  DT.120761893  DT.97821684  DT.87015660  DT.100685568  DT.100874110  DT.100685569 
    DT.91779384  DT.95169768  DT.95169746  DT.100685563  DT.120761897  DT.95169777  DT.100858368  DT.120761877 

    Selected AceView cDNA sequences (see all 851):

    BE217920 AW674948 CB154166 BM671952 CD674057 CR590038 CD366341 BM698317 
    F04115 CK431105 BM512373 AA767174 CR625732 AI350459 BM894143 BF221608 
    BM712832 AV652000 BQ773613 AW571595 BM449900 CR598816 AW770003 H04117 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SRSF5 (see all 25)    About this scheme

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

    ExUns: 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c
    SP1:  -     -     -     -                 -                           
    SP2:  -     -     -     -                 -                           
    SP3:  -     -     -     -                 -                           
    SP4:  -     -     -     -                 -                           
    SP5:  -     -     -     -                 -                           


    ECgene alternative splicing isoforms for SRSF5

    (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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    SRSF5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGACAAGCTG
    SRSF5 Expression
    About this image


    SRSF5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Thymus (Hematopoietic System)
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
    SRSF5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SRSF5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632326
        Custom PCR Arrays for SRSF5
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    In Situ
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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 animals and fungi.

    Orthologs for SRSF5 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Srsf55 serine/arginine-rich splicing factor 5   --   12 (37.20 cM) 80945520 
    chicken
    (Gallus gallus)
    Aves SRSF51 serine/arginine-rich splicing factor 5 81.46(n)
    94.94(a)
      423258  NM_001031197.2  NP_001026368.2 
    lizard
    (Anolis carolinensis)
    Reptilia SRSF56
    serine/arginine-rich splicing factor 5
    98(a)
    1 ↔ 1
    GL343318.1(700803-704651)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.54992 Xenopus laevis, Similar to splicing factor, arginine/serine-rich more 81.07(n)    BC044284.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.116952 Transcribed sequence with moderate similarity to protein more 76.2(n)    CK029459.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta B526
    B52
    47(a)
    1 ↔ 1
    3R(9487022-9492613)
    worm
    (Caenorhabditis elegans)
    Secernentea rsp-56
    Protein RSP-5, isoform a
    42(a)
    1 → many
    II(6490158-6491337) WBGene00004702
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NPL36
    RNA-binding protein that promotes elongation, regu...
    17(a)
    1 → many
    IV(1328783-1330027) YDR432W


    ENSEMBL Gene Tree for SRSF5 (if available)
    TreeFam Gene Tree for SRSF5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SRSF5 gene
    SRSF92  SRSF72  SRSF12  SRSF62  SRSF42  SRSF32  
    Selected SIMAP similar genes for SRSF5 using alignment to 5 protein entries:     SRSF5_HUMAN (see all proteins) (see all similar genes):
    SFRS5    SFRS6    SRSF4    SFRS4    SRSF6    LOC440563
    HNRNPC    SRSF1    LOC649330    RBM4    RBM4B    SRSF9
    RALY    RNPS1    SFRS3    SRSF3    A2BP1    DKFZp547L059

    Find genes that share paralogs with SRSF5           About GenesLikeMe



    (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 SRSF5 (see all 108)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1464119931,2
    --70232197(+) ATAAAA/CATAGT 2 -- us2k10--------
    rs1390936851,2
    --70232414(+) TTAACA/TCCCAC 2 -- us2k10--------
    rs1919434221,2
    --70232427(+) TATAGA/GTAACT 2 -- us2k10--------
    rs1169156851,2
    F--70236500(+) GGTCGA/GAAAGA 2 -- int11Minor allele frequency- G:0.01NA 120
    rs455276381,2
    C,F--70236600(+) CGCCAA/GTAGTC 2 -- int13Minor allele frequency- G:0.21NA 124
    rs1825454201,2
    --70236627(+) TGTGCC/GATTAA 2 -- int10--------
    rs1872497381,2
    --70236801(+) AATAAC/TTGGTG 2 -- int10--------
    rs1928096811,2
    --70236869(+) AAATAC/TGTACT 2 -- int10--------
    rs1837026841,2
    --70236924(+) ACTGAA/GCTCAG 2 -- int10--------
    rs21485041,2
    C--70237242(+) CCGACC/TTAAAT 4 P L mis1 ese30--------

    HapMap Linkage Disequilibrium report for SRSF5 (70193617 - 70238722 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SRSF5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv456336CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SRSF5
    DNA2.0 Custom Variant and Variant Library Synthesis for SRSF5

    (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.)
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    OMIM gene information: 600914    OMIM disorders: --

    1 disease for SRSF5:    
    About MalaCards
    pyruvate decarboxylase deficiency

    1 disease from the University of Copenhagen DISEASES database for SRSF5:
    Pyruvate decarboxylase deficiency

    Find genes that share disorders with SRSF5           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: SRSF5 (0 documents)

    Export disorders for SRSF5 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 SRSF5 gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with SRSF5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alternative splicing and structure of the human and mouse SFRS5/HRS/SRp40 genes. (PubMed id 9434190)1, 2, 9 Du K. and Taub R. (Gene 1997)
    2. Identification and characterization of three members of the human SR family of pre-mRNA splicing factors. (PubMed id 7556075)1, 2, 9 Screaton G.R.... Krainer A.R. (EMBO J. 1995)
    3. 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)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (Genome Biol. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. A coactivator of pre-mRNA splicing. (PubMed id 9531537)1, 2 Blencowe B.J.... Sharp P.A. (Genes Dev. 1998)
    8. Novel delayed-early and highly insulin-induced growth response genes. Identification of HRS, a potential regulator of alternative pre-mRNA splicing. (PubMed id 7686911)1, 3 Diamond R.H....Taub R. (J. Biol. Chem. 1993)
    9. SR proteins: a conserved family of pre-mRNA splicing factors. (PubMed id 1577277)1, 2 Zahler A.M.... Roth M.B. (Genes Dev. 1992)
    10. The switch in alternative splicing of cyclic AMP-response element modulator protein CREM{tau}2{alpha} (activator) to CREM{alpha} (repressor) in human myometrial cells is mediated by SRp40. (PubMed id 16103121)1, 9 Tyson-Capper A.J....Europe-Finner G.N. (J. Biol. Chem. 2005)

    (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: 6430 HGNC: 10787 AceView: SFRS5 Ensembl:ENSG00000100650 euGenes: HUgn6430
    ECgene: SRSF5 Kegg: 6430 H-InvDB: SRSF5

    (According to HUGE)
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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 SRSF5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SRSF5 gene:
    Search GeneIP for patents involving SRSF5

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



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