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

RSPH3 Gene

protein-coding   GIFtS: 45
GCID: GC06M159397

radial spoke 3 homolog (Chlamydomonas)

(Previous name: radial spokehead-like 2 )
(Previous symbol: RSHL2)
 Explore 2 diseases affiliated with
RSPH3 via our new
 Human Malady Compendium 
Biological research products
for RSPH3
    

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

Aliases
Radial Spoke 3 Homolog (Chlamydomonas)1 2     Radial Spoke Head-Like Protein 22 3
RSHL21 2 3     Radial Spoke Head 3 Homolog2
RSP31 2 3     Radial Spoke Head Protein 3 Homolog2
DJ111C20.11     Radial Spoke Protein 32
Radial Spokehead-Like 21 2     

External Ids:    HGNC: 210541   Entrez Gene: 838612   Ensembl: ENSG000001303637   UniProtKB: Q86UC23   

Export aliases for RSPH3 gene to outside databases

Previous GC identifers: GC06M159317 GC06M159318 GC06M156868


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

Gene Wiki entry for RSPH3


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RSPH3 gene promoter:
         AML1a   HSF1 (long)   C/EBPalpha   HNF-4alpha1   Max   PPAR-gamma1   FOXO4   HSF1short   PPAR-gamma2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRSPH3 promoter sequence
   Search SABiosciences Chromatin IP Primers for RSPH3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RSPH3


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

Entrez Gene cytogenetic band: 6q25.3   Ensembl cytogenetic band:  6q25.3   HGNC cytogenetic band: 6q25.3

RSPH3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RSPH3 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M159397:  view genomic region     (about GC identifiers)

Start:
159,397,312 bp from pter      End:
159,421,219 bp from pter
Size:
23,908 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: RSPH3_HUMAN, Q86UC2 (See protein sequence)
Recommended Name: Radial spoke head protein 3 homolog  
Size: 560 amino acids; 63687 Da
Sequence caution: Sequence=AAK26432.1; Type=Erroneous initiation; Sequence=BAB71544.1; Type=Erroneous initiation;
Sequence=CAI19235.1; Type=Erroneous initiation; Sequence=CAI19236.1; Type=Erroneous initiation;
Secondary accessions: Q96LQ5 Q96LX2 Q9BX75
Alternative splicing: 2 isoforms:  Q86UC2-1   Q86UC2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RSPH3: NX_Q86UC2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86UC2

  • RSPH3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_114130.3  
    ENSEMBL proteins: 
     ENSP00000356036   ENSP00000393195   ENSP00000252655   ENSP00000297262  

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

    RSPH3 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009290 Radial_spoke_3

    Graphical View of Domain Structure for InterPro Entry Q86UC2

    ProtoNet protein and cluster: Q86UC2

    UniProtKB/Swiss-Prot: RSPH3_HUMAN, Q86UC2
    Similarity: Belongs to the flagellar radial spoke RSP3 family


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

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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RSPH3

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for RSPH3 (Q86UC22, 3 ENSP000002526554) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840222, 3, ENSP000003329734MINT-51261 I2D: score=1 STRING: ENSP00000332973
    UBCENSP000003448184STRING: ENSP00000344818
    --Q9WMX22MINT-7049647
    About this table

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

    Browse Tocris compounds for RSPH3
    Search CenterWatch for drugs/clinical trials and news about RSPH3 

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

    REFSEQ mRNAs for RSPH3 gene: 
    NM_031924.4  

    Unigene Cluster for RSPH3:

    Radial spoke 3 homolog (Chlamydomonas)
    Hs.154628  [show with all ESTs]
    Unigene Representative Sequence: NM_031924
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367069(uc003qrx.3 uc010kju.3) ENST00000449822 ENST00000252655
    ENST00000297262

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    hsa-miR-338-5p
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RSPH3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RSPH3

    Additional cDNA sequence: 

    AF353618.1 AK057655.1 AK057931.1 BC011590.1 BC035675.1 BC050604.1 

    4 DOTS entries:

    DT.40308532  DT.95369103  DT.121333820  DT.75185816 

    24/53 AceView cDNA sequences (see all 53):

    BX111419 BM541421 CR624562 NM_031924 BC011590 AI245285 BC050604 BE503271 
    BM021845 BU632337 AI125143 AW138407 BM982853 AI126047 BP369066 AF353618 
    AK057655 CK904165 BM021983 AK057931 AI470552 AI341051 CA416793 BI491656 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for RSPH3 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9
    SP1:                    -           -     -                                         -                     
    SP2:                                -     -                                                               
    SP3:                    -     -     -                                                                     
    SP4:                    -           -     -     -     -     -     -                                       
    SP5:                                -     -                                                               


    ECgene alternative splicing isoforms for RSPH3

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

    RSPH3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCACAGACAC

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

    About this image
    See RSPH3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RSPH3

    SOURCE GeneReport for Unigene cluster: Hs.154628
        SABiosciences Custom PCR Arrays for RSPH3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RSPH3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RSPH3 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rsph3a5
    Rsph3b1
    radial spoke 3A homolog (Chlamydomonas)5
    radial spoke 3B homolog (Chlamydomonas)1
    77.57(n)1
    74.73(a)1
      17 (4.82 cM)5
    1000372821  NM_001083945.11  NP_001077414.11 
     79456145 
    chicken
    (Gallus gallus)
    Aves RSPH31 radial spoke 3 homolog (Chlamydomonas) 65.75(n)
    63.64(a)
      421663  XM_419702.3  XP_419702.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    RSPH36
    --
    61(a)
    55(a)
    many → 1
    many → 1
    AAWZ02040386(678-6444)
    1(212610067-212626004)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.15042 Xenopus laevis transcribed sequence with weak similarity more 77.95(n)    BX848479.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rsph31 radial spoke head 3 homolog (Chlamydomonas) 63.37(n)
    62.96(a)
      562259  NM_001089395.1  NP_001082864.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG323926
    --
    21(a)
    1 ↔ 1
    3L(6749729-6756346)


    ENSEMBL Gene Tree for RSPH3 (if available)
    TreeFam Gene Tree for RSPH3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

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

    10/511 NCBI SNPs in RSPH3 are shown (see all 511    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1893420661,2
    --159397802(+) GAAGGC/GAGCAC 1 -- int10--------
    rs1459429331,2
    --159397804(+) AGGGAA/GCACTG 1 -- int10--------
    rs1486033511,2
    --159397828(+) CACAAC/TGTTTA 1 -- int10--------
    rs1413733231,2
    --159397830(+) CAACGC/TTTAGG 1 -- int10--------
    rs1407747911,2
    C,--159397845(+) CTCTC-/TTTTTT 1 -- int10--------
    rs2014172341,2
    C--159397855(+) TTTTTC/TTTTTT 1 -- int10--------
    rs1807702361,2
    --159397870(+) TGAGAC/TGGAGT 1 -- int10--------
    rs122029591,2
    F,--159397925(+) ctcacC/Tgcaac 1 -- int11Minor allele frequency- T:0.04NA 120
    rs122161281,2
    --159397989(+) ttacaA/Ggcatg 1 -- int10--------
    rs117580151,2
    H--159397999(+) gcgccA/Cccatg 1 -- int10--------

    HapMap Linkage Disequilibrium report for RSPH3 (159397312 - 159421219 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for RSPH3
         2 CNVs: 7537 7538
         1 Indel: 11271

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

    RSPH3 for disorders           About GeneDecksing

    2 diseases for RSPH3:    About MalaCards
    sleeping sickness    cryptorchidism


    Export disorders for RSPH3 gene to outside databases

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

    PubMed articles for RSPH3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RSPH3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    5. Radial spoke protein 3 is a mammalian protein kinase A-anchoring protein that binds ERK1/2. (PubMed id 19684019)1 Jivan A....Cobb M.H. (2009)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Genomic organisation and nervous system expression of radial spoke protein 3. (PubMed id 15225872)1 Koukoulas I....Tan S.S. (2004)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 83861 HGNC: 21054 AceView: RSHL2 Ensembl:ENSG00000130363 euGenes: HUgn83861
    ECgene: RSPH3 H-InvDB: RSPH3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RSPH3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RSPH3 gene:
    Search GeneIP for patents involving RSPH3

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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