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

RSPH9 Gene

protein-coding   GIFtS: 46
GCID: GC06P043612

radial spoke head 9 homolog (Chlamydomonas)

(Previous names: mitochondrial ribosomal protein S18A-like 1, chromosome...)
(Previous symbols: MRPS18AL1, C6orf206)
 Explore 8 diseases affiliated with
RSPH9 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RSPH9    

Aliases
for RSPH9 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Radial Spoke Head 9 Homolog (Chlamydomonas)1 2     FLJ308451
C6orf2061 2 3     Chromosome 6 Open Reading Frame 2061
MRPS18AL11 2 3     Mitochondrial Ribosomal Protein S18A-Like 11
CILD121 2 5     Radial Spoke Head Protein 9 Homolog2

External Ids:    HGNC: 210571   Entrez Gene: 2214212   Ensembl: ENSG000001724267   OMIM: 6126485   UniProtKB: Q9H1X13   

Export aliases for RSPH9 gene to outside databases

Previous GC identifers: GC06P043721 GC06P043722 GC06P043336


Summaries
for RSPH9 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for RSPH9:
This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations
in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript
variants.(provided by RefSeq, Jul 2010)

UniProtKB/Swiss-Prot: RSPH9_HUMAN, Q9H1X1
Function: Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm
and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule,
and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair
of microtubules

Gene Wiki entry for RSPH9


Genomic Views
for RSPH9 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 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_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RSPH9 gene promoter:
         STAT1   NRSF form 1   STAT1beta   NRSF form 2   E47   STAT1alpha   NRF-2   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for RSPH9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RSPH9


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

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

RSPH9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RSPH9 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P043612:  view genomic region     (about GC identifiers)

Start:
 43,612,767 bp from pter      End:
 43,640,337 bp from pter
Size:
 27,571 bases      Orientation:
 plus strand

Proteins
for RSPH9 gene

(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: RSPH9_HUMAN, Q9H1X1 (See protein sequence)
Recommended Name: Radial spoke head protein 9 homolog  
Size: 276 amino acids; 31292 Da
Subcellular location: Cytoplasm, cytoskeleton, cilium axoneme (Probable). Note=Radial spoke (Probable)
Secondary accessions: A8K5T4 Q96NH9
Alternative splicing: 2 isoforms:  Q9H1X1-1   Q9H1X1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RSPH9: NX_Q9H1X1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H1X1

    • RSPH9 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001180270.1  NP_689945.2  

    ENSEMBL proteins: 
     ENSP00000361238   ENSP00000361236   ENSP00000412040  

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    Uscn Proteins for RSPH9

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005856cytoskeleton IEA--
    GO:0031514motile cilium IC19200523
    GO:0035085cilium axoneme IC19200523


    RSPH9 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for RSPH9 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RSPH9 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR006802 Radial_spoke

    Graphical View of Domain Structure for InterPro Entry Q9H1X1

    ProtoNet protein and cluster: Q9H1X1

    UniProtKB/Swiss-Prot: RSPH9_HUMAN, Q9H1X1
    Similarity: Belongs to the flagellar radial spoke RSP9 family


    Function
    for RSPH9 gene

    (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
    Function Summary:

         UniProtKB/Swiss-Prot: RSPH9_HUMAN, Q9H1X1
    Function: Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm
    and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule,
    and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair
    of microtubules

    miRNA
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    Clone
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    Pathways & Interactions
    for RSPH9 gene

    (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 RSPH9

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003341cilium movement IMP19200523
    GO:0035083cilium axoneme assembly IMP19200523


    RSPH9 for ontologies           About GeneDecksing



    Drugs & Compounds
    for RSPH9 gene

    (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 RSPH9
    Search CenterWatch for drugs/clinical trials and news about RSPH9 

    Transcripts
    for RSPH9 gene

    (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 RSPH9 gene (2 alternative transcripts): 
    NM_001193341.1  NM_152732.4  

    Unigene Cluster for RSPH9:

    Radial spoke head 9 homolog (Chlamydomonas)
    Hs.534585  [show with all ESTs]
    Unigene Representative Sequence: NM_001193341
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372165(uc003ovx.2) ENST00000372163(uc003ovw.2) ENST00000417236


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    Primer
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    Additional cDNA sequence: BC029519.1 

    5 DOTS entries:

    DT.211910  DT.100771045  DT.121368278  DT.95127327  DT.95159086 

    24/56 AceView cDNA sequences (see all 56):

    BM675678 CR591492 AI190974 AK055407 BQ187076 BM719502 CK300132 CK300595 
    AI424995 AI220270 BM682820 BU171360 BI826340 BU196545 BQ680488 NM_152732 
    BX357148 BX282751 BF439409 BI868674 Z42946 BG059893 BQ185058 BM693621 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RSPH9    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5
    SP1:                          -                                 
    SP2:                    -     -                                 
    SP3:                          -     -                           
    SP4:                                                            


    ECgene alternative splicing isoforms for RSPH9

    Expression
    for RSPH9 gene

    (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

    RSPH9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTTTCTTAA

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

    RSPH9 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RSPH9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RSPH9

    SOURCE GeneReport for Unigene cluster: Hs.534585
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    In Situ
    Assay Products:     
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    Orthologs
    for RSPH9 gene

    (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 RSPH9 gene from 6/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Rsph91 , 5 radial spoke head 9 homolog (Chlamydomonas)1, 5 88.41(n)1
    91.67(a)1    		   17 (22.87 cM)5
    755641  NM_029338.31  NP_083614.11 
     461220355 
    chicken
    (Gallus gallus)    		 Aves RSPH91 radial spoke head 9 homolog (Chlamydomonas) 67.52(n)
    64(a)    		   421446  XM_419496.3  XP_419496.1 
    lizard
    (Anolis carolinensis)    		 Reptilia RSPH96
    		 --
    		 49(a)
    		 1 ↔ 1
    		 GL343854.1(79819-111838)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.153842 Xenopus laevis transcribed sequences 72.28(n)    BJ039543.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii rsph91 radial spoke head 9 homolog 57.13(n)
    54.71(a)    		   558005  NM_001030113.1  NP_001025284.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG318031 CG31803 46.59(n)
    34.75(a)    		   318950  NM_165215.1  NP_724049.1 


    ENSEMBL Gene Tree for RSPH9 (if available)
    TreeFam Gene Tree for RSPH9 (if available) 

    Paralogs
    for RSPH9 gene

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

    Genomic Variants
    for RSPH9 gene

    (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

    10/527 NCBI SNPs in RSPH9 are shown (see all 527)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1439243841,2
    		--43610888(+) TCGATC/TTTTAA 2 -- us2k10--------
    rs94720961,2
    		C,F,A,H,--43610969(+) CTTTGT/GAGGCA 2 -- us2k19Minor allele frequency- G:0.23NA WA CSA EA 369
    rs126604731,2
    		C,F,H,--43611038(+) TGACTG/ATTTTT 2 -- us2k115Minor allele frequency- A:0.09NS EA WA NA 2336
    rs168966141,2
    		C,F,H,--43611160(+) TAAATT/CGTTTT 2 -- us2k1 tfbs313Minor allele frequency- C:0.08NA NS EA CSA WA 1434
    rs1472358611,2
    		--43611181(+) ATTAAA/GCCAAA 2 -- us2k10--------
    rs1407473391,2
    		--43611220(+) ATTTAG/TTTAGT 2 -- us2k10--------
    rs1123705191,2
    		--43611224(+) ATTTAG/TTTAGT 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1441894041,2
    		--43611348(+) CCTCCA/CGAGTA 2 -- us2k10--------
    rs1131720001,2
    		F,--43611525(+) AGGTGG/AGTGGA 2 -- us2k13Minor allele frequency- A:0.50CSA 6
    rs1126728101,2
    		F,--43611548(+) GGAGTT/GCAACA 2 -- us2k13Minor allele frequency- G:0.07CSA WA 122

    HapMap Linkage Disequilibrium report for RSPH9 (43612767 - 43640337 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RSPH9: --
    Human Gene Mutation Database (HGMD): RSPH9

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    Disorders / Diseases
    for RSPH9 gene

    (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
    RSPH9 for disorders           About GeneDecksing

    OMIM gene information: 612648   
    OMIM disorders: 612650  
    UniProtKB/Swiss-Prot: RSPH9_HUMAN, Q9H1X1
  • Defects in RSPH9 are the cause of primary ciliary dyskinesia type 12 (CILD12) [MIM:612650]. CILD is an
    • autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading
    to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility
    is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus,
    due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary
    dyskinesia associated with situs inversus is referred to as Kartagener syndrome

    8 diseases for RSPH9:    About MalaCards
    ciliary dyskinesia    primary ciliary dyskinesia    ciliary dyskinesia, primary, 12    situs inversus
    kartagener syndrome    dextrocardia    bronchiectasis    malaria

    2 diseases from the University of Copenhagen DISEASES database for RSPH9:
    Primary ciliary dyskinesia     Dextrocardia
    GeneTests: RSPH9
    Primary Ciliary Dyskinesia


    Export disorders for RSPH9 gene to outside databases

    Publications
    for RSPH9 gene

    (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 RSPH9 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RSPH9)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. (PubMed id 19200523)1, 2, 3 Castleman V.H.... Mitchison H.M. (2009)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    5. Mutations in radial spoke head genes and ultrastructur al cilia defects in East-European cohort of primary ciliary dyskinesia patients. (PubMed id 22448264)1 Zietkiewicz E....Witt M. (2012)
    6. Founder mutation(s) in the RSPH9 gene leading to prim ary ciliary dyskinesia in two inbred Bedouin families. (PubMed id 20070851)1 Reish O....Mitchison H.M. (2010)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. 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)
    9. Primary Ciliary Dyskinesia (PubMed id 20301301)1 Zariwala M.A....Leigh M.W. (1993)

    External Searches for RSPH9 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing RSPH9 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 221421 HGNC: 21057 AceView: C6orf206 Ensembl:ENSG00000172426 euGenes: HUgn221421
    ECgene: RSPH9 H-InvDB: RSPH9

    Other Databases showing RSPH9 gene

    (According to HUGE)
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    Specialized Databases showing RSPH9 gene

    (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 RSPH9 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
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    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    		Patent Information for RSPH9 gene:
    Search GeneIP for patents involving RSPH9

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