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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. An important paralog of this gene is RSPH4A.

Gene Wiki entry for RSPH6A Gene

Additional gene information for RSPH6A Gene

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

Genomics for RSPH6A Gene

GeneHancer (GH) Regulatory Elements for RSPH6A Gene

Promoters and enhancers for RSPH6A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J045814 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -1.4 -1389 3.8 HDGF ATF1 ARNT ARID4B SIN3A ZNF2 ETS1 ZNF213 E2F8 ARID2 RSPH6A ENSG00000269148 CLASRP DMWD CCDC61 SYMPK FBXO46 ENSG00000268810 DMPK
GH19J045809 Enhancer 1 Ensembl ENCODE 0.4 +5.2 5186 1.6 HDGF ARNT NFRKB ZNF121 FOS ATF7 EGR2 ZNF592 NFIC MAFF DMWD SYMPK DMPK GC19M045805 PIR50651 RSPH6A
GH19J045798 Enhancer 1 Ensembl ENCODE 0.4 +16.0 16019 0.9 PKNOX1 CLOCK SIN3A ZNF2 ZBTB7B RAD21 ZNF335 GLIS2 EGR1 ZNF143 CLASRP DMWD CCDC61 ENSG00000269148 ENSG00000268810 SIX5 SYMPK FOXA3 FBXO46 PIR50651
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RSPH6A on UCSC Golden Path with GeneCards custom track

Genomic Locations for RSPH6A Gene

Genomic Locations for RSPH6A Gene
chr19:45,795,710-45,815,347
(GRCh38/hg38)
Size:
19,638 bases
Orientation:
Minus strand
chr19:46,298,968-46,318,605
(GRCh37/hg19)
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

Antibody Products

  • Boster Bio Antibodies for RSPH6A

No data available for DME Specific Peptides for RSPH6A Gene

Domains & Families for RSPH6A Gene

Gene Families for RSPH6A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Function for RSPH6A Gene

Phenotypes From GWAS Catalog for RSPH6A Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RSPH6A

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RSPH6A gene
Compartment Confidence
cytoskeleton 1

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 the Human Protein Atlas (HPA) for RSPH6A Gene

Pathways & Interactions for RSPH6A Gene

SuperPathways for RSPH6A Gene

No Data Available

Interacting Proteins for RSPH6A Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000221538%0d%0a9606.ENSP00000354871%0d%0a
Selected Interacting proteins: Q9H0K4-RSH6A_HUMAN ENSP00000221538 for RSPH6A Gene via IID STRING

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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RSPH6A

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.21 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RSPH6A 34 33
  • 84.09 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RSPH6A 34 33
  • 84.01 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rsph6a 33
  • 80.24 (n)
mouse
(Mus musculus)
Mammalia Rsph6a 16 34 33
  • 79.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3121 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RSPH6A: view image

Paralogs for RSPH6A Gene

Paralogs for RSPH6A Gene

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

  • RSH6A_HUMAN
  • M0R103_HUMAN
  • M0R2K1_HUMAN
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 Variation AA Info Type
rs1000067899 -- 45,806,937(-) C/T intron_variant
rs1000098734 -- 45,807,172(-) C/G/T intron_variant
rs1000099188 -- 45,808,193(-) G/A intron_variant
rs1000240182 -- 45,807,896(-) G/A intron_variant
rs1000618598 -- 45,802,457(-) A/G 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)

Additional Variant Information 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

Additional Disease Information for RSPH6A

No disorders were found for RSPH6A Gene.

No data available for MalaCards , 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 (Biochemical and biophysical research communications 2001) 2 3 22 58
  2. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat BE … Tseng ZH (BMC cardiovascular disorders 2011) 3 44 58
  3. Toward 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 research 2001) 3 4 58
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  5. The LIFEdb database in 2006. (PMID: 16381901) Mehrle A … Wiemann S (Nucleic acids research 2006) 3 58

Products for RSPH6A Gene

Sources for RSPH6A Gene

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