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

RSPH1 Gene

protein-coding   GIFtS: 46
GCID: GC21M043892

Radial Spoke Head 1 Homolog (Chlamydomonas)

(Previous name: testis specific A2 homolog (mouse))
(Previous symbol: TSGA2)
  See 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)
About This Section

Aliases
Radial Spoke Head 1 Homolog (Chlamydomonas)1 2     RSP442
TSGA21 2 3 5     RSPH10A2
TSA22 3 5     h-meichroacidin2
meichroacidin1 2     Radial Spoke Head 1 Homolog2
Cancer/Testis Antigen 792 3     Testes Specific A2 Homolog2
Male Meiotic Metaphase Chromosome-Associated Acidic Protein2 3     Testes Specific Gene A2 Homolog2
Testis-Specific Gene A2 Protein2 3     Testis Specific A2 Homolog2
CT792 3     Meichroacidin3
Testis Specific A2 Homolog (Mouse)1     

External Ids:    HGNC: 123711   Entrez Gene: 897652   Ensembl: ENSG000001601887   OMIM: 6093145   UniProtKB: Q8WYR43   

Export aliases for RSPH1 gene to outside databases

Previous GC identifers: GC21M042766 GC21M029310


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

GeneCards Summary for RSPH1 Gene: 
RSPH1 (radial spoke head 1 homolog (Chlamydomonas)) is a protein-coding gene. Diseases associated with RSPH1 include epididymitis. An important paralog of this gene is RSPH10B2.

UniProtKB/Swiss-Prot: RSPH1_HUMAN, Q8WYR4
Function: May play an important role in male meiosis (By similarity)

Gene Wiki entry for RSPH1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000021.8  NT_011515.12  NC_018932.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RSPH1 gene promoter:
         p53   HTF   LCR-F1   C/EBPalpha   Msx-1   NF-kappaB1   TGIF   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRSPH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RSPH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RSPH1


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3

RSPH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RSPH1 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M043892:  view genomic region     (about GC identifiers)

Start:
43,892,596 bp from pter      End:
43,916,464 bp from pter
Size:
23,869 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RSPH1_HUMAN, Q8WYR4 (See protein sequence)
Recommended Name: Radial spoke head 1 homolog  
Size: 309 amino acids; 35124 Da
Subcellular location: Cytoplasm (By similarity). Note=Cytoplasmic in late spermatocytes, secondary spermatocytes
and round spermatids. Gathered around metaphase chromosomes during meiotic divisions (By similarity)
Secondary accessions: B2RBN9 Q3MJA1

Explore the universe of human proteins at neXtProt for RSPH1: NX_Q8WYR4

Explore proteomics data for RSPH1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WYR4

  • RSPH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RSPH1 Protein Expression
    REFSEQ proteins: NP_543136.1  
    ENSEMBL proteins: 
     ENSP00000291536   ENSP00000381395  

    Human Recombinant Protein Products for RSPH1: 
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    Novus Biologicals RSPH1 Protein
    Novus Biologicals RSPH1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16780588
    GO:0005829cytosol IDA16780588

    RSPH1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR003409 MORN

    Graphical View of Domain Structure for InterPro Entry Q8WYR4

    ProtoNet protein and cluster: Q8WYR4

    UniProtKB/Swiss-Prot: RSPH1_HUMAN, Q8WYR4
    Similarity: Contains 6 MORN repeats


    RSPH1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RSPH1_HUMAN, Q8WYR4
    Function: May play an important role in male meiosis (By similarity)

    Phenotypes:
         2 GenomeRNAi human phenotypes for RSPH1:

     Decreased viability  Synthetic lethal with c-Myc af 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rsph1):
     growth/size  homeostasis/metabolism  reproductive system 

    RSPH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rsph1tm1Htan for RSPH1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RSPH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RSPH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RSPH1 
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    miRNA
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RSPH1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RSPH1

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007126meiosis IEA--

    RSPH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 RSPH1

    Search CenterWatch for drugs/clinical trials and news about RSPH1

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RSPH1 gene: 
    NM_080860.2  

    Unigene Cluster for RSPH1:

    Radial spoke head 1 homolog (Chlamydomonas)
    Hs.661069  [show with all ESTs]
    Unigene Representative Sequence: AK057315
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493019 ENST00000291536(uc002zbg.3) ENST00000398352
    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for RSPH1
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                         Customized lentivirus expression plasmids for stable overexpression of RSPH1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RSPH1
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    Additional mRNA sequence: 

    AB006536.1 AB041016.1 AK057315.1 AK314746.1 BC101519.1 BC113367.1 

    4 DOTS entries:

    DT.100738030  DT.407433  DT.92451973  DT.92452000 

    24/177 AceView cDNA sequences (see all 177):

    AB006536 BX281865 NM_080860 BM791545 AA164846 AA383921 BG197774 BG213390 
    BM923805 BE467973 BM981461 BU684013 BG191005 AW001689 BG191639 BG215560 
    BG182745 AI857764 AW081704 AW081701 AK057315 BG209745 BG197257 BG227971 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for RSPH1    About this scheme

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


    ECgene alternative splicing isoforms for RSPH1

    (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

    RSPH1 expression in normal human tissues (normalized intensities)      RSPH1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATGAGGGAA
    RSPH1 Expression
    About this image


    RSPH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose/nasal cavity   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             brain/hindbrain   
     
     Lung (Respiratory System)
             bronchus ; respiratory epithelial cells   
     
     Testis (Reproductive System)
             testis ; cells in seminiferus ducts   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See RSPH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RSPH1

    SOURCE GeneReport for Unigene cluster: Hs.661069

    UniProtKB/Swiss-Prot: RSPH1_HUMAN, Q8WYR4
    Tissue specificity: Testis specific

        SABiosciences Custom PCR Arrays for RSPH1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RSPH1

    (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 RSPH1 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rsph11 , 5 radial spoke head 1 homolog (Chlamydomonas)1, 5 80.6(n)1
    79.93(a)1
      17 (15.94 cM)5
    220921  NM_025290.31  NP_079566.11 
     312550195 
    chicken
    (Gallus gallus)
    Aves RSPH11 radial spoke head 1 homolog (Chlamydomonas) 66.14(n)
    63.75(a)
      418536  XM_416745.3  XP_416745.1 
    lizard
    (Anolis carolinensis)
    Reptilia RSPH16
    Uncharacterized protein
    62(a)
    1 ↔ 1
    3(137675847-137699883)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.133522 Xenopus laevis transcribed sequence with moderate similarity more 72.94(n)    CB591346.1 
    zebrafish
    (Danio rerio)
    Actinopterygii im:69093881 im:6909388 65.3(n)
    65.91(a)
      100003444  XM_002663342.1  XP_002663388.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG54581 CG5458 47.94(n)
    39.7(a)
      34712  NM_135765.3  NP_609609.1 


    ENSEMBL Gene Tree for RSPH1 (if available)
    TreeFam Gene Tree for RSPH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RSPH1 gene
    RSPH10B22  RSPH10B2  MORN12  ALS2CL2  ALS22  MORN32  
    3 SIMAP similar genes for RSPH1 using alignment to 2 protein entries:     RSPH1_HUMAN (see all proteins):
    MORN2    LOC118812    MORN4

    RSPH1 for paralogs           About GeneDecksing



    (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) 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

    10/685 SNPs in RSPH1 are shown (see all 685)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs761172661,2
    F--43892136(+) AAGAAA/GTAAGA 1 -- ds50011Minor allele frequency- G:0.01EA 120
    rs676264471,2
    C,F--43892211(+) CCTGGC/TCTGTG 1 -- ds50015Minor allele frequency- T:0.08NA CSA WA EA 362
    rs121520281,2
    C,F,A--43892257(+) ACAGTA/GGGCCT 1 -- ds500113Minor allele frequency- G:0.34NA WA CSA EA 376
    rs1173413621,2
    C,F--43892312(+) GGCAGC/TGGGCG 1 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1862685251,2
    C--43892347(+) ACCCAA/TCACAC 1 -- ds50010--------
    rs1129786221,2
    C,F--43892466(+) CAGCCA/GGAAGC 1 -- ds50013Minor allele frequency- G:0.10CSA WA 122
    rs1116689331,2
    C,F--43892550(+) TGGCAG/AAACCA 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1177176161,2
    C,F--43892621(+) AAAGAC/TGTTTA 1 -- ut311Minor allele frequency- T:0.02NA 120
    rs28395311,2
    C,F,O,H--43892641(+) GTCAAC/TCAACT 1 -- ut3141Minor allele frequency- T:0.17NA NS EA WA CSA 3539
    rs793859501,2
    C--43892677(+) TAAAAA/GCCCTC 1 -- ut312Minor allele frequency- G:0.03CSA WA 120

    HapMap Linkage Disequilibrium report for RSPH1 (43892596 - 43916464 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for RSPH1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2723549CNV Deletion23290073
    dgv757e201CNV Deletion23290073
    nsv819777CNV Loss19587683
    dgv4749n71CNV Gain21882294
    nsv834103CNV Gain17160897
    nsv522001CNV Gain19592680

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609314    OMIM disorders: --

    2 diseases for RSPH1:    About MalaCards
    epididymitis    


    RSPH1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RSPH1

    Export disorders for RSPH1 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 RSPH1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RSPH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of meichroacidin (male meiotic metaphase chromosome-associated acidic protein). (PubMed id 9578619)1, 2, 3 Tsuchida J....Nishimune Y. (1998)
    2. Radial spoke protein 44 (human meichroacidin) is an axonemal alloantigen of sperm and cilia. (PubMed id 17451891)1, 3, 9 Shetty J....Herr J.C. (2007)
    3. 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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Mapping of eight testis-specific genes to mouse chromosomes. (PubMed id 9403069)1, 3 Taketo M.M....Seldin M.F. (1997)
    6. Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. (PubMed id 16780588)1 Hu Y.H....Janitz M. (2006)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

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

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 89765 HGNC: 12371 AceView: TSGA2 Ensembl:ENSG00000160188 euGenes: HUgn89765
    ECgene: RSPH1 H-InvDB: RSPH1

    (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 RSPH1 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 RSPH1 gene:
    Search GeneIP for patents involving RSPH1

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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