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Aliases for RSPH6A Gene

Aliases for RSPH6A Gene

  • Radial Spoke Head 6 Homolog A (Chlamydomonas) 2 3
  • RSHL1 3 4 6
  • Radial Spoke Head-Like Protein 1 3 4
  • Radial Spokehead-Like 1 2 3
  • 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 Symbols for RSPH6A Gene

  • RSHL1

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 (Chlamydomonas)) is a Protein Coding gene. 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

Genomic Location for RSPH6A Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RSPH6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSPH6A Gene

No data available for Regulatory Elements 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

No Post-translational modifications

Other Protein References for RSPH6A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RSPH6A Gene

Domains for RSPH6A Gene

Protein Domains for RSPH6A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RSPH6A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H0K4

UniProtKB/Swiss-Prot:

RSH6A_HUMAN
Family:
  • Belongs to the flagellar radial spoke RSP4/6 family.:
    • Q9H0K4
genes like me logo Genes that share domains with RSPH6A: view

No data available for Gene Families for RSPH6A Gene

Function for RSPH6A Gene

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

Localization for RSPH6A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RSPH6A Gene COMPARTMENTS Subcellular localization image for RSPH6A gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1
golgi apparatus 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 for RSPH6A Gene

Pathways 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 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:

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 (47.8).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for RSPH6A Gene

SOURCE GeneReport for Unigene cluster for RSPH6A Gene Hs.146544

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

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 35
  • 99.21 (n)
  • 99.02 (a)
RSPH6A 36
  • 99 (a)
OneToOne
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
mouse
(Mus musculus)
Mammalia Rsph6a 35
  • 79.85 (n)
  • 78.52 (a)
Rsph6a 16
Rsph6a 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rsph6a 35
  • 80.24 (n)
  • 78.98 (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

Selected 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 MAF
rs1548028 -- 45,805,849(+) TTTTT(C/T)TTGCC intron-variant
rs1548029 -- 45,805,945(+) ATGGG(A/C)GACAA intron-variant
rs1836030 -- 45,805,116(+) AAGAg(G/T)ccggg intron-variant
rs1972423 -- 45,805,657(+) ACTGC(A/C)CTCCA intron-variant
rs2879934 -- 45,805,458(+) aggcc(A/G)aggca 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

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

(1) University of Copenhagen DISEASES for RSPH6A Gene

Relevant External Links for RSPH6A

Genetic Association Database (GAD)
RSPH6A
genes like me logo Genes that share disorders with RSPH6A: view

No data available for UniProtKB/Swiss-Prot 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
  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 48
  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
  4. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PMID: 11256614) Simpson J.C. … Wiemann S. (EMBO Rep. 2000) 3
  5. 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) 3

Products for RSPH6A Gene

Sources for RSPH6A Gene

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