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KHSRP Gene

protein-coding   GIFtS: 56
GCID: GC19M006413

KH-Type Splicing Regulatory Protein

  See KHSRP-related diseases
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
KH-Type Splicing Regulatory Protein1 2     KH Type-Splicing Regulatory Protein2 3
FUBP22 3 5     p752 3
KSRP2 3 5     FBP22 5
FUSE Binding Protein 21 2     Far Upstream Element-Binding Protein 22
FUSE-Binding Protein 22 3     

External Ids:    HGNC: 63161   Entrez Gene: 85702   Ensembl: ENSG000000882477   OMIM: 6034455   UniProtKB: Q929453   

Export aliases for KHSRP gene to outside databases

Previous GC identifers: GC19M006507 GC19M006481 GC19M006353 GC19M006364 GC19M006173


(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 KHSRP Gene:
The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes,
including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 (PubMed 9136930);
Gherzi et al., 2004 (PubMed 15175153)).(supplied by OMIM, Apr 2010)

GeneCards Summary for KHSRP Gene:
KHSRP (KH-type splicing regulatory protein) is a protein-coding gene. Diseases associated with KHSRP include spinocerebellar ataxia type 17, and pheochromocytoma. GO annotations related to this gene include RNA binding. An important paralog of this gene is FUBP1.

UniProtKB/Swiss-Prot: FUBP2_HUMAN, Q92945
Function: Binds to the dendritic targeting element and may play a role in mRNA trafficking (By similarity). Part
of a ternary complex that binds to the downstream control sequence (DCS) of the pre-mRNA. Mediates exon inclusion
in transcripts that are subject to tissue-specific alternative splicing. May interact with single-stranded DNA
from the far-upstream element (FUSE). May activate gene expression. Also involved in degradation of inherently
unstable mRNAs that contain AU-rich elements (AREs) in their 3'-UTR, possibly by recruiting degradation machinery
to ARE-containing mRNAs

Gene Wiki entry for KHSRP 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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Regulatory elements:
   Regulatory transcription factor binding sites in the KHSRP gene promoter:
         E2F-4   E2F-3a   E2F-5   Nkx2-5   E2F-2   NF-kappaB   AREB6   E2F-1   COMP1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKHSRP promoter sequence
   Search Chromatin IP Primers for KHSRP

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


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M006413:  view genomic region     (about GC identifiers)

Start:
6,413,115 bp from pter      End:
6,424,822 bp from pter
Size:
11,708 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, 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: FUBP2_HUMAN, Q92945 (See protein sequence)
Recommended Name: Far upstream element-binding protein 2  
Size: 711 amino acids; 73115 Da
Subunit: Part of a ternary complex containing FUBP2, PTBP1, PTBP2 and HNRPH1. Interacts with PARN
Sequence caution: Sequence=AAC50892.1; Type=Frameshift; Positions=304, 309, 466, 473; Sequence=AAH85004.1;
Type=Miscellaneous discrepancy; Note=Aberrant splicing;
6 PDB 3D structures from and Proteopedia for KHSRP:
2HH2 (3D)        2HH3 (3D)        2JVZ (3D)        2OPU (3D)        2OPV (3D)        4B8T (3D)    
Secondary accessions: O00301 Q59EZ9 Q5U4P6 Q9UNT5 Q9UQH5

Explore the universe of human proteins at neXtProt for KHSRP: NX_Q92945

Explore proteomics data for KHSRP at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-193 leads to the unfolding of the unstable KH domain 1, creating a site for 14-3-3 YWHAZ
    binding, which promotes nuclear localization and impairs the RNA degradation function1
  • Ubiquitination2 at Lys109, Lys257, Lys488
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_003676.2  
    ENSEMBL proteins: 
     ENSP00000381216   ENSP00000469804   ENSP00000472328   ENSP00000473254   ENSP00000472347  
     ENSP00000471146   ENSP00000471262   ENSP00000469830   ENSP00000469431  
    Reactome Protein details: Q92945

    KHSRP Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for KHSRP (4 products) 

     
    antibodies-online peptides for KHSRP

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    antibodies-online antibodies for KHSRP (37 products) 

    KHSRP Assay Products:

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    antibodies-online kits for KHSRP (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR004087 KH_dom
     IPR004088 KH_dom_type_1
     IPR015096 DUF1897

    Graphical View of Domain Structure for InterPro Entry Q92945

    ProtoNet protein and cluster: Q92945

    2 Blocks protein domains:
    IPB004087 KH domain
    IPB004088 KH


    UniProtKB/Swiss-Prot: FUBP2_HUMAN, Q92945
    Domain: KH domains KH 3 and KH 4 behave as independent binding modules and can interact with different regions of
    the AU-rich RNA targets of degradation
    Similarity: Belongs to the KHSRP family
    Similarity: Contains 4 KH domains


    Find genes that share domains with KHSRP           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: FUBP2_HUMAN, Q92945
    Function: Binds to the dendritic targeting element and may play a role in mRNA trafficking (By similarity). Part
    of a ternary complex that binds to the downstream control sequence (DCS) of the pre-mRNA. Mediates exon inclusion
    in transcripts that are subject to tissue-specific alternative splicing. May interact with single-stranded DNA
    from the far-upstream element (FUSE). May activate gene expression. Also involved in degradation of inherently
    unstable mRNAs that contain AU-rich elements (AREs) in their 3'-UTR, possibly by recruiting degradation machinery
    to ARE-containing mRNAs

         Genatlas biochemistry entry for KHSRP:
    K homology-type splicing regulatory protein,highly expressed in neural cells

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding ----
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with KHSRP           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for KHSRP:
     Cell cycle / mitosis defect  Decreased DCP1a protein expres 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Khsrp):
     immune system  mortality/aging 

    Find genes that share phenotypes with KHSRP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Khsrptm1.1Cyc for KHSRP

       genOway: Develop your customized and physiologically relevant rodent model for KHSRP

    miRNA
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    miRTarBase miRNAs that target KHSRP:
    hsa-mir-186-5p (MIRT045215), hsa-let-7b-5p (MIRT052159), hsa-mir-149-5p (MIRT045395), hsa-mir-940 (MIRT036633), hsa-mir-615-3p (MIRT039660), hsa-mir-590-3p (MIRT016217), hsa-mir-27b-3p (MIRT006988), hsa-mir-92a-3p (MIRT049309), hsa-mir-1180-3p (MIRT035948), hsa-mir-24-3p (MIRT005397), hsa-mir-221-3p (MIRT046948), hsa-mir-125b-5p (MIRT045963)

    Block miRNA regulation of human, mouse, rat KHSRP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KHSRP (see all 42):
    hsa-miR-548j hsa-miR-3164 hsa-miR-513a-5p hsa-miR-374a* hsa-miR-3613-3p hsa-miR-548a-5p hsa-miR-548d-5p hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidKHSRP 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KHSRP

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    Browse Sino Biological Human cDNA Clones
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    Addgene plasmids for KHSRP 

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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
    FUBP2_HUMAN, Q92945: Nucleus. Cytoplasm. Note=A small proportion is also found in the cytoplasm of neuronal cell
    bodies and dendrites (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    extracellular1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005829cytosol TAS--
    GO:0010494cytoplasmic stress granule IEA--

    Find genes that share ontologies with KHSRP           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 KHSRP About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1PERK regulated gene expression
    PERK regulated gene expression0.90
    Activation of Genes by ATF40.90
    2CDK-mediated phosphorylation and removal of Cdc6
    Regulation of mRNA Stability by Proteins that Bind AU-rich Elements0.62
    Destabilization of mRNA by KSRP0.00
    3Unfolded Protein Response
    Unfolded Protein Response0.61
    4Gene Expression
    Gene Expression0.40
    5Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30


    Find genes that share SuperPaths with KHSRP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    2 Reactome Pathways for KHSRP
        KSRP destabilizes mRNA
    ATF4 activates genes


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

        GeneGlobe Interaction Network for KHSRP

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

    Selected Interacting proteins for KHSRP (Q929452, 3 ENSP000003812164) via UniProtKB, MINT, STRING, and/or I2D (see all 139)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STK3Q131882, 3, ENSP000003905004MINT-8272243 I2D: score=3 STRING: ENSP00000390500
    GSK3BP498412, 3MINT-8257361 I2D: score=2 
    GADD45AP245222, 3, ENSP000003600254MINT-8255890 I2D: score=2 STRING: ENSP00000360025
    PARNO954533, ENSP000003879114I2D: score=3 STRING: ENSP00000387911
    APBB1O002133, ENSP000002994024I2D: score=2 STRING: ENSP00000299402
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000375RNA splicing, via transesterification reactions TAS10911989
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006397mRNA processing IEA--
    GO:0008380RNA splicing TAS10911989

    Find genes that share ontologies with KHSRP           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 KHSRP (FUBP2)

    5 Novoseek inferred chemical compound relationships for KHSRP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aspartate 3.91 1 8094340 (1)
    nitric oxide 0 1 16126846 (1)
    tyrosine 0 2 7512816 (1), 10524342 (1)
    potassium 0 2 8187634 (1), 8094340 (1)
    glutamate 0 2 12902347 (1)



    Find genes that share compounds with KHSRP           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 KHSRP gene: 
    NM_003685.2  

    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398148(uc002mer.4) ENST00000594745 ENST00000597656 ENST00000595223
    ENST00000594496 ENST00000600480 ENST00000599642 ENST00000595112 ENST00000599395
    ENST00000595548 ENST00000595258 ENST00000597704
    miRNA
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    hsa-miR-548j hsa-miR-3164 hsa-miR-513a-5p hsa-miR-374a* hsa-miR-3613-3p hsa-miR-548a-5p hsa-miR-548d-5p hsa-miR-23a
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      QuantiTect SYBR Green Assays in human, mouse, rat KHSRP
      QuantiFast Probe-based Assays in human, mouse, rat KHSRP

    Selected AceView cDNA sequences (see all 550):

    CA426796 BG115664 BG150698 BQ218879 AI634811 BQ424519 BM469579 AI497766 
    BM782175 AI499239 AI475108 BU743322 BF984330 AA458843 BM673573 BG683137 
    AA570114 BF111081 BG057021 BE349600 AI766575 W19136 AI700954 AW402223 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KHSRP (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                -                           
    SP4:        -                                                                                                                                                   
    SP5:        -                                   -     -                                                                                                         

    ExUns: 17b · 17c · 17d ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for KHSRP

    (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)
    About This Section

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


    KHSRP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) 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)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    KHSRP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KHSRP Protein Expression

    UniProtKB/Swiss-Prot: FUBP2_HUMAN, Q92945
    Tissue specificity: Detected in neural and non-neural cell lines

        Custom PCR Arrays for KHSRP
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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.

    Orthologs for KHSRP gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Khsrp1 , 5 KH-type splicing regulatory protein1, 5 87.55(n)1
    98.71(a)1
      17 (29.63 cM)5
    165491  NM_010613.31  NP_034743.31 
     570210585 
    lizard
    (Anolis carolinensis)
    Reptilia KHSRP6
    KH-type splicing regulatory protein
    87(a)
    1 ↔ 1
    2(76375754-76409162)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF533513.12   -- 77.9(n)    AF533513.1 
    zebrafish
    (Danio rerio)
    Actinopterygii khsrp1 KH-type splicing regulatory protein 71.18(n)
    77.02(a)
      573145  NM_001089428.1  NP_001082897.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Psi6
    P-element somatic inhibitor
    24(a)
    1 → many
    2R(12748826-12755219)
    worm
    (Caenorhabditis elegans)
    Secernentea C12D8.1b3 RNA binding protein 38(a)
    (best of 6)
      V(10238862-10240838)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KHSRP gene
    FUBP12  FUBP32  
    5 SIMAP similar genes for KHSRP using alignment to 9 protein entries:     FUBP2_HUMAN (see all proteins):
    FUBP1    NOVA1    FUBP3    PCBP2    IGF2BP2

    Find genes that share paralogs with KHSRP           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for KHSRP
    PGOHUM00000263229


    (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 KHSRP (see all 314)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1913953261,2
    --6412917(+) GTCCCC/TGAGGC 1 -- ds50010--------
    rs16130701,2
    C,F,A,H--6412929(-) GCGCTT/CAGGAG 1 -- ds500127Minor allele frequency- C:0.46NS EA NA WA CSA 2771
    rs2002160251,2
    C--6413010(+) CTTCC-/CACATGG 1 -- ds50010--------
    rs16638021,2
    C,F,H--6413015(+) CACATC/GGGAAG 1 -- ds500111Minor allele frequency- G:0.36MN NA WA CSA EA 556
    rs1835920161,2
    --6413069(+) CTTGCC/TCAACT 1 -- ds50010--------
    rs673545901,2
    C--6413144(+) AAAAA-/AGGGGG 1 -- ut310--------
    rs603658881,2
    C--6413155(+) AAAAAG/AGGGGG 1 -- ut312Minor allele frequency- A:0.00NA 4
    rs1893594961,2
    --6413235(+) ACACAA/CAGTTT 1 -- ut310--------
    rs579188121,2
    --6413433(+) TTTTTG/TTTGTT 1 -- ut310--------
    rs1424233161,2
    --6413505(+) GGGAGA/GGGGGA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for KHSRP (6413115 - 6424822 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KHSRP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv910916CNV Loss21882294
    nsv910922CNV Loss21882294
    nsv910923CNV Loss21882294
    nsv833727CNV Loss17160897
    dgv3698n71CNV Loss21882294

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603445    OMIM disorders: --

    2 diseases for KHSRP:    
    About MalaCards
    spinocerebellar ataxia type 17    pheochromocytoma

    1 disease from the University of Copenhagen DISEASES database for KHSRP:
    Poliomyelitis

    Find genes that share disorders with KHSRP           About GenesLikeMe

    2 Novoseek inferred disease relationships for KHSRP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pheochromocytoma 19 2 8930347 (1), 11027214 (1)
    neurodegeneration 12.4 1 10213477 (1)


    Export disorders for KHSRP 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 KHSRP gene, integrated from 10 sources (see all 130):
    (articles sorted by number of sources associating them with KHSRP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new regulatory protein, KSRP, mediates exon inclusion through an intronic splicing enhancer. (PubMed id 9136930)1, 2, 3, 9 Min H.... Black D.L. (Genes Dev. 1997)
    2. The far upstream element-binding proteins comprise an ancient family of single-strand DNA-binding transactivators. (PubMed id 8940189)1, 2, 3, 9 Davis-Smyth T.... Levens D. (J. Biol. Chem. 1996)
    3. Mapping of the KHSRP gene to a region of conserved synteny on human chromosome 19p13.3 and mouse chromosome 17. (PubMed id 10087204)1, 2, 9 Ring H.Z....Francke U. (Genomics 1999)
    4. A KH domain RNA binding protein, KSRP, promotes ARE-directed mRNA turnover by recruiting the degradation machinery. (PubMed id 15175153)1, 2, 9 Gherzi R....Chen C.-Y. (Mol. Cell 2004)
    5. Cooperative assembly of an hnRNP complex induced by a tissue-specific homolog of polypyrimidine tract binding protein. (PubMed id 11003644)1, 2, 9 Markovtsov V....Black D.L. (Mol. Cell. Biol. 2000)
    6. Phosphorylation-mediated unfolding of a KH domain regulates KSRP localization via 14-3-3 binding. (PubMed id 19198587)1, 2 Diaz-Moreno I.... Ramos A. (Nat. Struct. Mol. Biol. 2009)
    7. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    9. KSRP-PMR1-exosome association determines parathyroid hormone mRNA levels and stability in transfected cells. (PubMed id 19775426)1, 9 Nechama M....Naveh-Many T. (BMC Cell Biol. 2009)
    10. The RNA-binding protein KSRP promotes the biogenesis of a subset of microRNAs. (PubMed id 19458619)1, 9 Trabucchi M....Rosenfeld M.G. (Nature 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 8570 HGNC: 6316 AceView: KHSRP Ensembl:ENSG00000088247 euGenes: HUgn8570
    ECgene: KHSRP H-InvDB: KHSRP

    (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 KHSRP 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 KHSRP gene:
    Search GeneIP for patents involving KHSRP

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



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