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Aliases for RSPH9 Gene

Aliases for RSPH9 Gene

  • Radial Spoke Head 9 Homolog (Chlamydomonas) 2 3
  • MRPS18AL1 3 4
  • C6orf206 3 4
  • CILD12 3 6
  • Mitochondrial Ribosomal Protein S18A-Like 1 2
  • Chromosome 6 Open Reading Frame 206 2
  • Radial Spoke Head Protein 9 Homolog 3

External Ids for RSPH9 Gene

Previous HGNC Symbols for RSPH9 Gene

  • MRPS18AL1
  • C6orf206

Previous GeneCards Identifiers for RSPH9 Gene

  • GC06P043721
  • GC06P043722
  • GC06P043612
  • GC06P043336

Summaries for RSPH9 Gene

Entrez Gene Summary for RSPH9 Gene

  • 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]

GeneCards Summary for RSPH9 Gene

RSPH9 (Radial Spoke Head 9 Homolog (Chlamydomonas)) is a Protein Coding gene. Diseases associated with RSPH9 include ciliary dyskinesia, primary, 12 and primary ciliary dyskinesia12: rsph9-related primary ciliary dyskinesia.

UniProtKB/Swiss-Prot for RSPH9 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSPH9 Gene

Genomics for RSPH9 Gene

Regulatory Elements for RSPH9 Gene

Genomic Location for RSPH9 Gene

Start:
43,644,557 bp from pter
End:
43,672,599 bp from pter
Size:
28,043 bases
Orientation:
Plus strand

Genomic View for RSPH9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RSPH9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSPH9 Gene

Proteins for RSPH9 Gene

  • Protein details for RSPH9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1X1-RSPH9_HUMAN
    Recommended name:
    Radial spoke head protein 9 homolog
    Protein Accession:
    Q9H1X1
    Secondary Accessions:
    • A8K5T4
    • Q96NH9

    Protein attributes for RSPH9 Gene

    Size:
    276 amino acids
    Molecular mass:
    31292 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RSPH9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSPH9 Gene

Proteomics data for RSPH9 Gene at MOPED

Post-translational modifications for RSPH9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RSPH9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RSPH9 Gene

Domains for RSPH9 Gene

Protein Domains for RSPH9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RSPH9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H1X1

UniProtKB/Swiss-Prot:

RSPH9_HUMAN :
  • Q9H1X1
Family:
  • Belongs to the flagellar radial spoke RSP9 family.
genes like me logo Genes that share domains with RSPH9: view

No data available for Gene Families for RSPH9 Gene

Function for RSPH9 Gene

Molecular function for RSPH9 Gene

UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for RSPH9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RSPH9: view

miRNA for RSPH9 Gene

miRTarBase miRNAs that target RSPH9

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for RSPH9 Gene

Localization for RSPH9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSPH9 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Note=Radial spoke. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RSPH9 Gene COMPARTMENTS Subcellular localization image for RSPH9 gene
Compartment Confidence
cytoskeleton 3
cytosol 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RSPH9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0005930 axoneme IC 19200523
GO:0031514 motile cilium IC 19200523
genes like me logo Genes that share ontologies with RSPH9: view

Pathways for RSPH9 Gene

SuperPathways for RSPH9 Gene

No Data Available

Interacting Proteins for RSPH9 Gene

Gene Ontology (GO) - Biological Process for RSPH9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IMP 19200523
GO:0035082 axoneme assembly IMP 19200523
genes like me logo Genes that share ontologies with RSPH9: view

No data available for Pathways by source for RSPH9 Gene

Transcripts for RSPH9 Gene

mRNA/cDNA for RSPH9 Gene

Unigene Clusters for RSPH9 Gene

Radial spoke head 9 homolog (Chlamydomonas):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RSPH9 Gene

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

Relevant External Links for RSPH9 Gene

GeneLoc Exon Structure for
RSPH9
ECgene alternative splicing isoforms for
RSPH9

Expression for RSPH9 Gene

mRNA expression in normal human tissues for RSPH9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RSPH9 Gene

This gene is overexpressed in Testis (17.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RSPH9 Gene

SOURCE GeneReport for Unigene cluster for RSPH9 Gene Hs.534585

genes like me logo Genes that share expressions with RSPH9: view

No data available for mRNA Expression by UniProt/SwissProt for RSPH9 Gene

Orthologs for RSPH9 Gene

This gene was present in the common ancestor of animals.

Orthologs for RSPH9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RSPH9 35
  • 89.37 (n)
  • 93.48 (a)
RSPH9 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RSPH9 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rsph9 35
  • 88.41 (n)
  • 91.67 (a)
Rsph9 16
Rsph9 36
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RSPH9 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSPH9 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rsph9 35
  • 88.19 (n)
  • 90.13 (a)
chicken
(Gallus gallus)
Aves RSPH9 35
  • 68.35 (n)
  • 66.54 (a)
RSPH9 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RSPH9 36
  • 51 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15384 35
tropical clawed frog
(Silurana tropicalis)
Amphibia rsph9 35
  • 60.02 (n)
  • 54.35 (a)
Str.464 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5224 35
zebrafish
(Danio rerio)
Actinopterygii rsph9 35
  • 57.13 (n)
  • 54.71 (a)
rsph9 36
  • 44 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011032 35
  • 47.56 (n)
  • 35.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31803 35
  • 46.59 (n)
  • 34.75 (a)
CG31803 36
  • 26 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4333 36
  • 42 (a)
OneToOne
Species with no ortholog for RSPH9:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RSPH9 Gene

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

Paralogs for RSPH9 Gene

No data available for Paralogs for RSPH9 Gene

Variants for RSPH9 Gene

Sequence variations from dbSNP and Humsavar for RSPH9 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs747832 -- 43,668,374(+) GGAGG(C/G)AGGCA intron-variant
rs752662 -- 43,669,326(-) GGCGT(A/T)TATAG intron-variant
rs833047 -- 43,665,524(+) GCCTA(C/T)GGGAG intron-variant
rs1617105 -- 43,645,443(+) GGGCG(A/G)GATCT intron-variant
rs2295944 -- 43,655,365(+) TATTA(C/T)GAATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RSPH9 Gene

Variant ID Type Subtype PubMed ID
nsv5281 CNV Loss 18451855

Relevant External Links for RSPH9 Gene

HapMap Linkage Disequilibrium report
RSPH9
Human Gene Mutation Database (HGMD)
RSPH9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSPH9 Gene

Disorders for RSPH9 Gene

(1) OMIM Diseases for RSPH9 Gene (612648)

UniProtKB/Swiss-Prot

RSPH9_HUMAN
  • Ciliary dyskinesia, primary, 12 (CILD12) [MIM:612650]: A disorder characterized by 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. {ECO:0000269 PubMed:19200523}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for RSPH9 Gene

Relevant External Links for RSPH9

GeneTests
RSPH9
GeneReviews
RSPH9
genes like me logo Genes that share disorders with RSPH9: view

Publications for RSPH9 Gene

  1. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. (PMID: 19200523) Castleman V.H. … Mitchison H.M. (Am. J. Hum. Genet. 2009) 2 3 4
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for RSPH9 Gene

Sources for RSPH9 Gene

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