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Aliases for RSPH6A Gene

Aliases for RSPH6A Gene

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

Promoters for RSPH6A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RSPH6A on UCSC Golden Path with GeneCards custom track

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

Proteomics data for RSPH6A Gene at MOPED

Post-translational modifications for RSPH6A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RSPH6A Gene

ENSEMBL proteins:
REFSEQ proteins:

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

CRISPR 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

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

Drugs & Compounds for RSPH6A Gene

No Compound Related Data Available

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:

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



SOURCE GeneReport for Unigene cluster for RSPH6A Gene Hs.146544

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

Protein tissue co-expression partners for RSPH6A Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia RSPH6A 35
  • 84.09 (n)
  • 81 (a)
RSPH6A 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RSPH6A 35
  • 84.01 (n)
  • 81.3 (a)
RSPH6A 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RSPH6A 35
  • 99.21 (n)
  • 99.02 (a)
RSPH6A 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rsph6a 35
  • 80.24 (n)
  • 78.98 (a)
mouse
(Mus musculus)
Mammalia Rsph6a 16
Rsph6a 36
  • 74 (a)
OneToOne
Rsph6a 35
  • 79.85 (n)
  • 78.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3121 36
  • 25 (a)
OneToMany
Species with no ortholog for RSPH6A:
  • 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
VAR_037560 -
rs1548028 -- 45,805,849(+) TTTTT(C/T)TTGCC intron-variant
rs1548029 -- 45,805,945(+) ATGGG(A/C/G)GACAA intron-variant
rs1836030 -- 45,805,116(+) AAGAg(G/T)ccggg intron-variant
rs1972423 -- 45,805,657(+) ACTGC(A/C)CTCCA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3954n71 CNV Loss 21882294
nsv912166 CNV Loss 21882294
dgv3956n71 CNV Loss 21882294
dgv3957n71 CNV Loss 21882294
esv2718642 CNV Deletion 23290073
esv2660293 CNV Deletion 23128226
nsv912172 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
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
  • kartagener syndrome
- 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 23 67
  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
  3. 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
  4. The LIFEdb database in 2006. (PMID: 16381901) Mehrle A. … Wiemann S. (Nucleic Acids Res. 2006) 3
  5. A germline-specific class of small RNAs binds mammalian Piwi proteins. (PMID: 16751776) Girard A. … Carmell M.A. (Nature 2006) 3

Products for RSPH6A Gene

Sources for RSPH6A Gene

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