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RSPH3 Gene

protein-coding   GIFtS: 45
GCID: GC06M159397

Radial Spoke 3 Homolog (Chlamydomonas)

(Previous name: radial spokehead-like 2)
(Previous symbol: RSHL2)
  See 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
Radial Spoke 3 Homolog (Chlamydomonas)1 2     dJ111C20.12
RSHL21 2 3     Radial Spoke Head 3 Homolog2
Radial Spokehead-Like 21 2     Radial Spoke Head Protein 3 Homolog2
Radial Spoke Head-Like Protein 22 3     Radial Spoke Protein 32
RSP32 3     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RSPH3 Gene:
RSPH3 (radial spoke 3 homolog (Chlamydomonas)) is a protein-coding gene. Diseases associated with RSPH3 include sleeping sickness, and cryptorchidism.

Gene Wiki entry for RSPH3 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_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   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 Chromatin IP Primers for RSPH3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
159,393,903 bp from pter      End:
159,421,219 bp from pter
Size:
27,317 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: 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

Explore proteomics data for RSPH3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RSPH3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    RSPH3 Human Recombinant Protein Products:

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    Novus Biologicals RSPH3 Lysate
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    Cloud-Clone Corp. Proteins for RSPH3

    RSPH3 Antibody Products:

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    RSPH3 Assay Products:

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    Cloud-Clone Corp. ELISAs for RSPH3
    Cloud-Clone Corp. CLIAs for RSPH3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     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


    RSPH3 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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RSPH3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RSPH3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RSPH3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RSPH3

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate RSPH3:
    hsa-miR-338-5p
    SwitchGear 3'UTR luciferase reporter plasmidRSPH3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RSPH3
    Predesigned siRNA for gene silencing in human, mouse, rat RSPH3

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for RSPH3 (see all 8)
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    GenScript: all cDNA clones in your preferred vector: RSPH3 (NM_031924)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RSPH3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RSPH3

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RSPH3


    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    mitochondrion2
    plasma membrane2

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RSPH3
    Interactions:

        Search GeneGlobe Interaction Network 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, 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 RSPH3



    (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 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
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367069(uc003qrx.3 uc010kju.3) ENST00000607398 ENST00000449822
    ENST00000252655 ENST00000297262
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RSPH3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate RSPH3:
    hsa-miR-338-5p
    SwitchGear 3'UTR luciferase reporter plasmidRSPH3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RSPH3
    Predesigned siRNA for gene silencing in human, mouse, rat RSPH3
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    OriGene ORF clones in mouse, rat for RSPH3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RSPH3 (NM_031924)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RSPH3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RSPH3
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for RSPH3
    OriGene qSTAR qPCR primer pairs in human, mouse for RSPH3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RSPH3
      QuantiTect SYBR Green Assays in human, mouse, rat RSPH3
      QuantiFast Probe-based Assays in human, mouse, rat RSPH3

    Additional mRNA sequence: 

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

    4 DOTS entries:

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

    Selected AceView cDNA sequences (see all 53):

    BM541421 CR624562 BC050604 AI245285 BU188089 BM021845 BU632337 BI491656 
    CD366184 CA416793 BX111419 CK904165 AI470552 AI341051 BP369066 AI126047 
    AK057931 AW138407 AK057655 BM021983 NM_031924 AF353618 BE503271 BC011590 

    GeneLoc Exon Structure

    Selected 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™, 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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    RSPH3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCACAGACAC
    RSPH3 Expression
    About this image

    RSPH3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RSPH3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.154628
        Custom PCR Arrays for RSPH3
    Primer
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RSPH3 gene from Selected species (see all 15)    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
    81.19(n)1
    82.21(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) 69.36(n)
    69.88(a)
      421663  XM_004935673.1  XP_004935730.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    57(a)
    54(a)
    many → 1
    many → 1
    1(212610067-212626004)
    AAWZ02040386(638-6669)
    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 CG323921 CG32392 45.42(n)
    42.03(a)
      38751  NM_168180.2  NP_729190.1 


    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)
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    (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 RSPH3 (see all 628)    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--159397846(+) TTTTT-/TCTTTT 1 -- int10--------
    rs2014172341,2
    C--159397855(+) TTTTTC/TTTTTT 1 -- int10--------
    rs1807702361,2
    --159397870(+) TGAGAC/TGGAGT 1 -- int10--------
    rs122029591,2
    C,F--159397925(+) ctcacC/Tgcaac 1 -- int11Minor allele frequency- T:0.04NA 120
    rs122161281,2
    C--159397989(+) ttacaA/Ggcatg 1 -- int10--------
    rs117580151,2
    H--159397999(+) gcgccA/Cccatg 1 -- int10--------

    HapMap Linkage Disequilibrium report for RSPH3 (159393903 - 159421219 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for RSPH3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668232CNV Deletion23128226
    esv33909CNV Loss17666407
    esv33150CNV Loss17666407
    esv33554CNV Loss17666407
    esv32758CNV Loss17666407
    nsv886798CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RSPH3
    DNA2.0 Custom Variant and Variant Library Synthesis for RSPH3

    (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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    2 diseases for RSPH3:    
    About MalaCards
    sleeping sickness    cryptorchidism


    RSPH3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RSPH3

    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)
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    PubMed articles for RSPH3 gene integrated from 10 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. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    6. 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. (J. Biol. Chem. 2009)
    7. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
    8. 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. (Genome Res. 2004)
    9. Genomic organisation and nervous system expression of radial spoke protein 3. (PubMed id 15225872)1 Koukoulas I....Tan S.S. (Gene 2004)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (Nature 2003)

    (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: 83861 HGNC: 21054 AceView: RSHL2 Ensembl:ENSG00000130363 euGenes: HUgn83861
    ECgene: RSPH3 H-InvDB: RSPH3

    (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 RSPH3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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