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Aliases for RSPH4A Gene

Aliases for RSPH4A Gene

  • Radial Spoke Head 4 Homolog A 2 3
  • Radial Spoke Head 4 Homolog A (Chlamydomonas) 2 5
  • Radial Spoke Head-Like Protein 3 3 4
  • Radial Spokehead-Like 3 2 3
  • RSHL3 3 4
  • DJ412I7.1 3
  • CILD11 3
  • RSPH6B 3

External Ids for RSPH4A Gene

Previous HGNC Symbols for RSPH4A Gene

  • RSHL3

Previous GeneCards Identifiers for RSPH4A Gene

  • GC06P117045
  • GC06P116941
  • GC06P114517

Summaries for RSPH4A Gene

Entrez Gene Summary for RSPH4A Gene

  • This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

GeneCards Summary for RSPH4A Gene

RSPH4A (Radial Spoke Head 4 Homolog A) is a Protein Coding gene. Diseases associated with RSPH4A include Ciliary Dyskinesia, Primary, 11 and Primary Ciliary Dyskinesia. An important paralog of this gene is RSPH6A.

UniProtKB/Swiss-Prot for RSPH4A Gene

  • Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to a subfiber of the outer doublet microtubule, and a bulbous head which is attached to the stalk and appears to interact with the projections from the central pair of microtubules.

Gene Wiki entry for RSPH4A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSPH4A Gene

Genomics for RSPH4A Gene

Regulatory Elements for RSPH4A Gene

Enhancers for RSPH4A 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 RSPH4A on UCSC Golden Path with GeneCards custom track

Genomic Location for RSPH4A Gene

Chromosome:
6
Start:
116,593,900 bp from pter
End:
116,633,051 bp from pter
Size:
39,152 bases
Orientation:
Plus strand

Genomic View for RSPH4A Gene

Genes around RSPH4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSPH4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSPH4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSPH4A Gene

Proteins for RSPH4A Gene

  • Protein details for RSPH4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TD94-RSH4A_HUMAN
    Recommended name:
    Radial spoke head protein 4 homolog A
    Protein Accession:
    Q5TD94
    Secondary Accessions:
    • B4DSI1
    • Q3KP24
    • Q5TD95

    Protein attributes for RSPH4A Gene

    Size:
    716 amino acids
    Molecular mass:
    80733 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RSPH4A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSPH4A Gene

Proteomics data for RSPH4A Gene at MOPED

Post-translational modifications for RSPH4A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RSPH4A Gene

No data available for DME Specific Peptides for RSPH4A Gene

Domains & Families for RSPH4A Gene

Protein Domains for RSPH4A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RSPH4A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5TD94

UniProtKB/Swiss-Prot:

RSH4A_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 RSPH4A: view

No data available for Gene Families for RSPH4A Gene

Function for RSPH4A Gene

Molecular function for RSPH4A Gene

UniProtKB/Swiss-Prot Function:
Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to a subfiber of the outer doublet microtubule, and a bulbous head which is attached to the stalk and appears to interact with the projections from the central pair of microtubules.

Phenotypes for RSPH4A Gene

genes like me logo Genes that share phenotypes with RSPH4A: view

Human Phenotype Ontology for RSPH4A 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 RSPH4A Gene

Localization for RSPH4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSPH4A Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium. Note=Radial spoke. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RSPH4A Gene COMPARTMENTS Subcellular localization image for RSPH4A gene
Compartment Confidence
nucleus 5
cytoskeleton 4

Gene Ontology (GO) - Cellular Components for RSPH4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005930 axoneme IDA 23255504
GO:0031514 motile cilium IC 19200523
genes like me logo Genes that share ontologies with RSPH4A: view

Pathways & Interactions for RSPH4A Gene

SuperPathways for RSPH4A Gene

No Data Available

Interacting Proteins for RSPH4A Gene

Gene Ontology (GO) - Biological Process for RSPH4A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RSPH4A Gene

Drugs & Compounds for RSPH4A Gene

No Compound Related Data Available

Transcripts for RSPH4A Gene

Unigene Clusters for RSPH4A Gene

Radial spoke head 4 homolog A (Chlamydomonas):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RSPH4A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: -

Relevant External Links for RSPH4A Gene

GeneLoc Exon Structure for
RSPH4A
ECgene alternative splicing isoforms for
RSPH4A

Expression for RSPH4A Gene

mRNA expression in normal human tissues for RSPH4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RSPH4A Gene

This gene is overexpressed in Fallopian Tube (x5.4) and Pituitary (x4.5).

Protein differential expression in normal tissues from HIPED for RSPH4A Gene

This gene is overexpressed in Lavage (68.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RSPH4A Gene



SOURCE GeneReport for Unigene cluster for RSPH4A Gene Hs.160380

mRNA Expression by UniProt/SwissProt for RSPH4A Gene

Q5TD94-RSH4A_HUMAN
Tissue specificity: Expressed in trachea, lungs, and testes. Very strong expression is detected in nasal brushings.
genes like me logo Genes that share expression patterns with RSPH4A: view

Protein tissue co-expression partners for RSPH4A Gene

Primer Products

Orthologs for RSPH4A Gene

This gene was present in the common ancestor of animals.

Orthologs for RSPH4A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RSPH4A 35
  • 86.31 (n)
  • 80.12 (a)
RSPH4A 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RSPH4A 35
  • 85.55 (n)
  • 81.31 (a)
RSPH4A 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rsph4a 35
  • 80.54 (n)
  • 74.03 (a)
Rsph4a 16
Rsph4a 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RSPH4A 35
  • 99.52 (n)
  • 99.43 (a)
RSPH4A 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rsph4a 35
  • 78.37 (n)
  • 72.21 (a)
oppossum
(Monodelphis domestica)
Mammalia RSPH4A 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSPH4A 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSPH4A 35
  • 68.18 (n)
  • 64.69 (a)
RSPH4A 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rsph6a 35
  • 62.12 (n)
  • 60.08 (a)
Str.11803 35
zebrafish
(Danio rerio)
Actinopterygii LOC100148286 35
  • 61.44 (n)
  • 57.32 (a)
wufj17d05 35
rsph4a 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3121 36
  • 28 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13707 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4510 36
  • 61 (a)
OneToOne
Species with no ortholog for RSPH4A:
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 RSPH4A Gene

ENSEMBL:
Gene Tree for RSPH4A (if available)
TreeFam:
Gene Tree for RSPH4A (if available)

Paralogs for RSPH4A Gene

Paralogs for RSPH4A Gene

(2) SIMAP similar genes for RSPH4A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RSPH4A: view

Variants for RSPH4A Gene

Sequence variations from dbSNP and Humsavar for RSPH4A Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs13213314 - 116,617,069(+) AAACA(A/C/G)CTTTC nc-transcript-variant, reference, missense
rs6927567 - 116,629,571(+) GGGTC(A/G)CTGTA intron-variant, nc-transcript-variant, reference, missense
rs784133 - 116,629,670(+) GGGGC(C/T)TCCTC intron-variant, nc-transcript-variant, reference, missense
rs9488991 - 116,630,515(+) AATCC(A/C)ACCTT nc-transcript-variant, reference, synonymous-codon, missense
rs9488992 - 116,632,389(+) CGCAG(C/T)TGAGA downstream-variant-500B, reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RSPH4A Gene

Variant ID Type Subtype PubMed ID
nsv523972 CNV Gain 19592680
nsv830783 CNV Gain 17160897
nsv5448 CNV Insertion 18451855

Variation tolerance for RSPH4A Gene

Residual Variation Intolerance Score: 42.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.91; 91.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RSPH4A Gene

Human Gene Mutation Database (HGMD)
RSPH4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSPH4A Gene

Disorders for RSPH4A Gene

MalaCards: The human disease database

(8) MalaCards diseases for RSPH4A Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 11
  • ics11
primary ciliary dyskinesia
  • kartagener syndrome
bronchiectasis
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
ciliary dyskinesia, primary, 1, with or without situs inversus
  • kartagener syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RSH4A_HUMAN
  • Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649]: 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:19200523, ECO:0000269 PubMed:23798057, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RSPH4A

Genetic Association Database (GAD)
RSPH4A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RSPH4A
genes like me logo Genes that share disorders with RSPH4A: view

No data available for Genatlas for RSPH4A Gene

Publications for RSPH4A Gene

  1. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. (PMID: 19200523) Castleman V.H. … Mitchison H.M. (Am. J. Hum. Genet. 2009) 2 3 4 67
  2. Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. (PMID: 25789548) Frommer A. … Omran H. (Am. J. Respir. Cell Mol. Biol. 2015) 3
  3. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. (PMID: 23255504) Antony D. … Mitchison H.M. (Hum. Mutat. 2013) 3
  4. Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. (PMID: 23798057) Daniels M.L. … Zariwala M.A. (Hum. Mutat. 2013) 3
  5. Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. (PMID: 22448264) ZiA9tkiewicz E. … Witt M. (PLoS ONE 2012) 3

Products for RSPH4A Gene

Sources for RSPH4A Gene

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