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Aliases for RSPH3 Gene

Aliases for RSPH3 Gene

  • Radial Spoke 3 Homolog 2 3
  • Radial Spoke 3 Homolog (Chlamydomonas) 2 5
  • Radial Spoke Head-Like Protein 2 3 4
  • A-Kinase Anchor Protein RSPH3 3 4
  • Radial Spokehead-Like 2 2 3
  • RSHL2 3 4
  • RSP3 3 4
  • Radial Spoke Head 3 Homolog 3
  • Radial Spoke Protein 3 3
  • DJ111C20.1 3
  • CILD32 3

External Ids for RSPH3 Gene

Previous HGNC Symbols for RSPH3 Gene

  • RSHL2

Previous GeneCards Identifiers for RSPH3 Gene

  • GC06M159317
  • GC06M159318
  • GC06M159397
  • GC06M156868

Summaries for RSPH3 Gene

GeneCards Summary for RSPH3 Gene

RSPH3 (Radial Spoke 3 Homolog) is a Protein Coding gene. Diseases associated with RSPH3 include ciliary dyskinesia, primary, 32 and bronchiectasis.

UniProtKB/Swiss-Prot for RSPH3 Gene

  • Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia.

Gene Wiki entry for RSPH3 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSPH3 Gene

Genomics for RSPH3 Gene

Regulatory Elements for RSPH3 Gene

Enhancers for RSPH3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RSPH3 on UCSC Golden Path with GeneCards custom track

Promoters for RSPH3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RSPH3 on UCSC Golden Path with GeneCards custom track

Genomic Location for RSPH3 Gene

Chromosome:
6
Start:
158,972,871 bp from pter
End:
159,000,432 bp from pter
Size:
27,562 bases
Orientation:
Minus strand

Genomic View for RSPH3 Gene

Genes around RSPH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSPH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSPH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSPH3 Gene

Proteins for RSPH3 Gene

  • Protein details for RSPH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UC2-RSPH3_HUMAN
    Recommended name:
    Radial spoke head protein 3 homolog
    Protein Accession:
    Q86UC2
    Secondary Accessions:
    • Q96LQ5
    • Q96LX2
    • Q9BX75

    Protein attributes for RSPH3 Gene

    Size:
    560 amino acids
    Molecular mass:
    63687 Da
    Quaternary structure:
    • Interacts with phosphorylated MAPK1. Interacts with MEK1. Interact with PKA regulatory subunits PRKAR1A and PRKAR1B.
    SequenceCaution:
    • Sequence=AAK26432.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB71544.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI19235.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI19236.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RSPH3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSPH3 Gene

Proteomics data for RSPH3 Gene at MOPED

Post-translational modifications for RSPH3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RSPH3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RSPH3 Gene

Domains & Families for RSPH3 Gene

Protein Domains for RSPH3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RSPH3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86UC2

UniProtKB/Swiss-Prot:

RSPH3_HUMAN :
  • Belongs to the flagellar radial spoke RSP3 family.
Family:
  • Belongs to the flagellar radial spoke RSP3 family.
genes like me logo Genes that share domains with RSPH3: view

No data available for Gene Families for RSPH3 Gene

Function for RSPH3 Gene

Molecular function for RSPH3 Gene

UniProtKB/Swiss-Prot Function:
Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia.

Phenotypes for RSPH3 Gene

GenomeRNAi human phenotypes for RSPH3:
genes like me logo Genes that share phenotypes with RSPH3: view

Human Phenotype Ontology for RSPH3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for RSPH3 Gene

Localization for RSPH3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RSPH3 Gene COMPARTMENTS Subcellular localization image for RSPH3 gene
Compartment Confidence
cytosol 3
nucleus 3
mitochondrion 2
plasma membrane 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for RSPH3 Gene

Pathways & Interactions for RSPH3 Gene

SuperPathways for RSPH3 Gene

No Data Available

Interacting Proteins for RSPH3 Gene

Gene Ontology (GO) - Biological Process for RSPH3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RSPH3 Gene

Drugs & Compounds for RSPH3 Gene

No Compound Related Data Available

Transcripts for RSPH3 Gene

Unigene Clusters for RSPH3 Gene

Radial spoke 3 homolog (Chlamydomonas):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RSPH3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9
SP1: - - - -
SP2: - -
SP3: - - -
SP4: - - - - - - -
SP5: - -
SP6: -

Relevant External Links for RSPH3 Gene

GeneLoc Exon Structure for
RSPH3
ECgene alternative splicing isoforms for
RSPH3

Expression for RSPH3 Gene

mRNA expression in normal human tissues for RSPH3 Gene

Protein differential expression in normal tissues from HIPED for RSPH3 Gene

This gene is overexpressed in Heart (62.9) and Testis (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RSPH3 Gene



SOURCE GeneReport for Unigene cluster for RSPH3 Gene Hs.154628

genes like me logo Genes that share expression patterns with RSPH3: view

Protein tissue co-expression partners for RSPH3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RSPH3 Gene

Orthologs for RSPH3 Gene

This gene was present in the common ancestor of animals.

Orthologs for RSPH3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RSPH3 35
  • 80.13 (n)
  • 75.47 (a)
RSPH3 36
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RSPH3 35
  • 81.55 (n)
  • 75.53 (a)
RSPH3 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rsph3b 35
  • 81.19 (n)
  • 82.21 (a)
Rsph3b 16
Rsph3a 36
  • 64 (a)
OneToMany
Rsph3b 36
  • 72 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia RSPH3 35
  • 99.23 (n)
  • 98.57 (a)
RSPH3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rsph3 35
  • 75.56 (n)
  • 67.67 (a)
oppossum
(Monodelphis domestica)
Mammalia RSPH3 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSPH3 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSPH3 35
  • 69.36 (n)
  • 69.88 (a)
RSPH3 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 57 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rsph3 35
  • 66.87 (n)
  • 68.88 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1504 35
zebrafish
(Danio rerio)
Actinopterygii rsph3 35
  • 63.37 (n)
  • 62.96 (a)
rsph3 36
  • 62 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4654 35
fruit fly
(Drosophila melanogaster)
Insecta CG32392 35
  • 45.42 (n)
  • 42.03 (a)
CG32392 36
  • 22 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14205 35
Species with no ortholog for RSPH3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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 RSPH3 Gene

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

Paralogs for RSPH3 Gene

No data available for Paralogs for RSPH3 Gene

Variants for RSPH3 Gene

Sequence variations from dbSNP and Humsavar for RSPH3 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs16889320 - 158,993,867(+) AAGTG(C/T)TACCT nc-transcript-variant, reference, missense
rs34582178 - 158,986,414(-) CGGAC(A/G)GCCTG intron-variant, nc-transcript-variant, reference, missense
rs10455840 - 158,980,866(+) ATGCT(C/T)GGGCG nc-transcript-variant, reference, missense
rs768994 - 158,978,316(-) GCTAA(C/T)GAATG nc-transcript-variant, reference, missense
rs12204826 - 158,977,771(+) ATCCT(C/T)GGGTT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for RSPH3 Gene

Variant ID Type Subtype PubMed ID
nsv886798 CNV Gain 21882294
esv33150 CNV Loss 17666407
esv33909 CNV Loss 17666407
esv33554 CNV Loss 17666407
esv32758 CNV Loss 17666407
esv2668232 CNV Deletion 23128226

Variation tolerance for RSPH3 Gene

Residual Variation Intolerance Score: 96.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.98; 97.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RSPH3 Gene

HapMap Linkage Disequilibrium report
RSPH3
Human Gene Mutation Database (HGMD)
RSPH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSPH3 Gene

Disorders for RSPH3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RSPH3 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 32
  • ciliary dyskinesia, primary, 32, without situs inversus
bronchiectasis
  • kartagener syndrome
ciliary dyskinesia, primary, 1, with or without situs inversus
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
primary ciliary dyskinesia
  • kartagener syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RSPH3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RSPH3_HUMAN
  • Ciliary dyskinesia, primary, 32 (CILD32) [MIM:616481]: 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. {ECO:0000269 PubMed:26073779}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RSPH3

Genetic Association Database (GAD)
RSPH3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RSPH3
genes like me logo Genes that share disorders with RSPH3: view

No data available for Genatlas for RSPH3 Gene

Publications for RSPH3 Gene

  1. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. (PMID: 26073779) Jeanson L. … Legendre M. (Am. J. Hum. Genet. 2015) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Genome-wide interaction study of smoking and bladder cancer risk. (PMID: 24662972) Figueroa J.D. … Silverman D.T. (Carcinogenesis 2014) 3
  4. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. (PMID: 25277244) Katsogiannou M. … Rocchi P. (Mol. Cell Proteomics 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for RSPH3 Gene

Sources for RSPH3 Gene

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