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Aliases for RSPH6A Gene

Aliases for RSPH6A Gene

  • Radial Spoke Head 6 Homolog A 2 3 5
  • Radial Spoke Head-Like Protein 1 3 4
  • Radial Spokehead-Like 1 2 3
  • RSHL1 3 4
  • Radial Spoke Head 6 Homolog A (Chlamydomonas) 2
  • Ortholog Of Mouse Radial Spokehead-Like 1 3
  • Radial Spoke Head Protein 6 Homolog A 3
  • RSPH4B 3
  • RSP4 3
  • RSP6 3

External Ids for RSPH6A Gene

Previous HGNC Symbols for RSPH6A Gene

  • RSHL1

Previous GeneCards Identifiers for RSPH6A Gene

  • GC19M050991
  • GC19M046298
  • GC19M042727

Summaries for RSPH6A Gene

Entrez Gene Summary for RSPH6A Gene

  • The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]

GeneCards Summary for RSPH6A Gene

RSPH6A (Radial Spoke Head 6 Homolog A) is a Protein Coding gene. Diseases associated with RSPH6A include Primary Ciliary Dyskinesia. An important paralog of this gene is RSPH4A.

Gene Wiki entry for RSPH6A Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSPH6A Gene

Genomics for RSPH6A Gene

Regulatory Elements for RSPH6A Gene

Enhancers for RSPH6A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F045814 0.6 ENCODE 0.8 -1.4 -1389 3.8 HDGF ARNT CREB3L1 WRNIP1 ARID4B SIN3A ZNF2 ETS1 ELK1 ZNF207 DMWD SYMPK DMPK ENSG00000269148 RSPH6A
GH19F045809 0.9 Ensembl ENCODE 0.4 +5.2 5186 1.6 HDGF PKNOX1 CBX3 ZNF121 FOS EGR2 CEBPB ZFP69B MAFF SMARCA4 DMWD SYMPK DMPK RSPH6A PIR50651 GC19M045805
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RSPH6A on UCSC Golden Path with GeneCards custom track

Promoters for RSPH6A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001648563 -253 1201 ZNF362 ZNF692 POLR2A SCRT2 ATF2 ETS1

Genomic Location for RSPH6A Gene

Chromosome:
19
Start:
45,795,710 bp from pter
End:
45,815,347 bp from pter
Size:
19,638 bases
Orientation:
Minus strand

Genomic View for RSPH6A Gene

Genes around RSPH6A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSPH6A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSPH6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSPH6A Gene

Proteins for RSPH6A Gene

  • Protein details for RSPH6A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0K4-RSH6A_HUMAN
    Recommended name:
    Radial spoke head protein 6 homolog A
    Protein Accession:
    Q9H0K4
    Secondary Accessions:
    • Q53FE2
    • Q6PEZ9

    Protein attributes for RSPH6A Gene

    Size:
    717 amino acids
    Molecular mass:
    80913 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RSPH6A Gene

Post-translational modifications for RSPH6A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RSPH6A Gene

No data available for DME Specific Peptides for RSPH6A Gene

Domains & Families for RSPH6A Gene

Protein Domains for RSPH6A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RSPH6A Gene

Graphical View of Domain Structure for InterPro Entry

Q9H0K4

UniProtKB/Swiss-Prot:

RSH6A_HUMAN :
  • Belongs to the flagellar radial spoke RSP4/6 family.
Family:
  • Belongs to the flagellar radial spoke RSP4/6 family.
genes like me logo Genes that share domains with RSPH6A: view

No data available for Gene Families for RSPH6A Gene

Function for RSPH6A Gene

Phenotypes for RSPH6A Gene

genes like me logo Genes that share phenotypes with RSPH6A: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RSPH6A Gene

Localization for RSPH6A Gene

Gene Ontology (GO) - Cellular Components for RSPH6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
genes like me logo Genes that share ontologies with RSPH6A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for RSPH6A Gene

Pathways & Interactions for RSPH6A Gene

SuperPathways for RSPH6A Gene

No Data Available

Interacting Proteins for RSPH6A Gene

Gene Ontology (GO) - Biological Process for RSPH6A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RSPH6A Gene

Transcripts for RSPH6A Gene

mRNA/cDNA for RSPH6A Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RSPH6A Gene

Radial spoke head 6 homolog A (Chlamydomonas):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RSPH6A Gene

No ASD Table

Relevant External Links for RSPH6A Gene

GeneLoc Exon Structure for
RSPH6A
ECgene alternative splicing isoforms for
RSPH6A

Expression for RSPH6A Gene

mRNA expression in normal human tissues for RSPH6A Gene

mRNA differential expression in normal tissues according to GTEx for RSPH6A Gene

This gene is overexpressed in Testis (x47.8).

Protein differential expression in normal tissues from HIPED for RSPH6A Gene

This gene is overexpressed in Testis (41.0) and Ovary (28.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RSPH6A Gene



Protein tissue co-expression partners for RSPH6A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RSPH6A Gene:

RSPH6A

SOURCE GeneReport for Unigene cluster for RSPH6A Gene:

Hs.146544
genes like me logo Genes that share expression patterns with RSPH6A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for RSPH6A Gene

Orthologs for RSPH6A Gene

This gene was present in the common ancestor of animals.

Orthologs for RSPH6A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RSPH6A 34 35
  • 99.21 (n)
cow
(Bos Taurus)
Mammalia RSPH6A 34 35
  • 84.09 (n)
dog
(Canis familiaris)
Mammalia RSPH6A 34 35
  • 84.01 (n)
rat
(Rattus norvegicus)
Mammalia Rsph6a 34
  • 80.24 (n)
mouse
(Mus musculus)
Mammalia Rsph6a 34 16 35
  • 79.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3121 35
  • 25 (a)
OneToMany
Species where no ortholog for RSPH6A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for RSPH6A Gene

ENSEMBL:
Gene Tree for RSPH6A (if available)
TreeFam:
Gene Tree for RSPH6A (if available)

Paralogs for RSPH6A Gene

Paralogs for RSPH6A Gene

(2) SIMAP similar genes for RSPH6A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with RSPH6A: view

Variants for RSPH6A Gene

Sequence variations from dbSNP and Humsavar for RSPH6A Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10401826 -- 45,810,295(+) CCTCC(C/G)GAGTA intron-variant
rs10402263 -- 45,810,500(+) ATTGT(C/G)CAATG intron-variant
rs10404186 -- 45,796,367(+) cagtg(A/T)ggtct intron-variant
rs10405391 -- 45,813,807(+) GACTG(C/T)AGCTA intron-variant
rs10407137 -- 45,810,567(+) CACTG(A/T)CCCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RSPH6A Gene

Variant ID Type Subtype PubMed ID
esv2660293 CNV deletion 23128226
esv2718642 CNV deletion 23290073
esv3556470 CNV deletion 23714750
esv3644513 CNV loss 21293372
nsv579870 CNV loss 21841781

Variation tolerance for RSPH6A Gene

Residual Variation Intolerance Score: 78.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.44; 71.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RSPH6A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSPH6A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSPH6A Gene

Disorders for RSPH6A Gene

MalaCards: The human disease database

(1) MalaCards diseases for RSPH6A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
primary ciliary dyskinesia
  • ciliary motility disorder
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RSPH6A

Genetic Association Database (GAD)
RSPH6A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RSPH6A
genes like me logo Genes that share disorders with RSPH6A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RSPH6A Gene

Publications for RSPH6A Gene

  1. A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus. (PMID: 11237735) Eriksson M. … Carey N. (Biochem. Biophys. Res. Commun. 2001) 2 3 22 64
  2. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat B.E. … Tseng Z.H. (BMC Cardiovasc Disord 2011) 3 46 64
  3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4 64
  4. 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 64
  5. The LIFEdb database in 2006. (PMID: 16381901) Mehrle A. … Wiemann S. (Nucleic Acids Res. 2006) 3 64

Products for RSPH6A Gene

Sources for RSPH6A Gene

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