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Aliases for RSPH1 Gene

Aliases for RSPH1 Gene

  • Radial Spoke Head 1 Homolog 2 3
  • Meichroacidin 2 3 4
  • Male Meiotic Metaphase Chromosome-Associated Acidic Protein 3 4
  • Radial Spoke Head 1 Homolog (Chlamydomonas) 2 5
  • Cancer/Testis Antigen 79 3 4
  • TSGA2 3 4
  • CT79 3 4
  • TSA2 3 4
  • Testis Specific A2 Homolog (Mouse) 2
  • Testes Specific Gene A2 Homolog 3
  • Testis-Specific Gene A2 Protein 4
  • Testis Specific A2 Homolog 3
  • RSPH10A 3
  • RSP44 3

External Ids for RSPH1 Gene

Previous HGNC Symbols for RSPH1 Gene

  • TSGA2

Previous GeneCards Identifiers for RSPH1 Gene

  • GC21M042766
  • GC21M043892
  • GC21M029310

Summaries for RSPH1 Gene

Entrez Gene Summary for RSPH1 Gene

  • This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

GeneCards Summary for RSPH1 Gene

RSPH1 (Radial Spoke Head 1 Homolog) is a Protein Coding gene. Diseases associated with RSPH1 include Ciliary Dyskinesia, Primary, 24 and Primary Ciliary Dyskinesia24: Rsph1-Related Primary Ciliary Dyskinesia. An important paralog of this gene is ALS2.

UniProtKB/Swiss-Prot for RSPH1 Gene

  • May play an important role in male meiosis (By similarity). It is necessary for proper building of the axonemal central pair and radial spokes.

Gene Wiki entry for RSPH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSPH1 Gene

Genomics for RSPH1 Gene

Regulatory Elements for RSPH1 Gene

Enhancers for RSPH1 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 RSPH1 on UCSC Golden Path with GeneCards custom track

Promoters for RSPH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RSPH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RSPH1 Gene

Chromosome:
21
Start:
42,472,486 bp from pter
End:
42,496,354 bp from pter
Size:
23,869 bases
Orientation:
Minus strand

Genomic View for RSPH1 Gene

Genes around RSPH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSPH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSPH1 Gene

Proteins for RSPH1 Gene

  • Protein details for RSPH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WYR4-RSPH1_HUMAN
    Recommended name:
    Radial spoke head 1 homolog
    Protein Accession:
    Q8WYR4
    Secondary Accessions:
    • A8MWV0
    • B2RBN9
    • Q3MJA1

    Protein attributes for RSPH1 Gene

    Size:
    309 amino acids
    Molecular mass:
    35124 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RSPH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSPH1 Gene

Proteomics data for RSPH1 Gene at MOPED

Post-translational modifications for RSPH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RSPH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RSPH1 Gene

Domains & Families for RSPH1 Gene

Protein Domains for RSPH1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RSPH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WYR4

UniProtKB/Swiss-Prot:

RSPH1_HUMAN :
  • Contains 6 MORN repeats.
Similarity:
  • Contains 6 MORN repeats.
genes like me logo Genes that share domains with RSPH1: view

No data available for Gene Families for RSPH1 Gene

Function for RSPH1 Gene

Molecular function for RSPH1 Gene

UniProtKB/Swiss-Prot Function:
May play an important role in male meiosis (By similarity). It is necessary for proper building of the axonemal central pair and radial spokes.
genes like me logo Genes that share phenotypes with RSPH1: view

Human Phenotype Ontology for RSPH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RSPH1 Gene

MGI Knock Outs for RSPH1:

Animal Model Products

miRNA for RSPH1 Gene

miRTarBase miRNAs that target RSPH1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for RSPH1 Gene

Localization for RSPH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSPH1 Gene

Cytoplasm. Cell projection, cilium. Note=Cytoplasmic in late spermatocytes, secondary spermatocytes and round spermatids. Gathered around metaphase chromosomes during meiotic divisions (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RSPH1 Gene COMPARTMENTS Subcellular localization image for RSPH1 gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for RSPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16780588
GO:0005829 cytosol IDA 16780588
GO:0031514 motile cilium IDA 23993197
GO:0036126 sperm flagellum IEA --
genes like me logo Genes that share ontologies with RSPH1: view

Pathways & Interactions for RSPH1 Gene

SuperPathways for RSPH1 Gene

No Data Available

Interacting Proteins for RSPH1 Gene

Gene Ontology (GO) - Biological Process for RSPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007286 spermatid development IEA --
genes like me logo Genes that share ontologies with RSPH1: view

No data available for Pathways by source and SIGNOR curated interactions for RSPH1 Gene

Drugs & Compounds for RSPH1 Gene

No Compound Related Data Available

Transcripts for RSPH1 Gene

Unigene Clusters for RSPH1 Gene

Radial spoke head 1 homolog (Chlamydomonas):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RSPH1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2: - -
SP3:

Relevant External Links for RSPH1 Gene

GeneLoc Exon Structure for
RSPH1
ECgene alternative splicing isoforms for
RSPH1

Expression for RSPH1 Gene

mRNA expression in normal human tissues for RSPH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RSPH1 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x4.8), Brain - Nucleus accumbens (basal ganglia) (x4.5), Pituitary (x4.5), Testis (x4.3), and Brain - Hypothalamus (x4.0).

Protein differential expression in normal tissues from HIPED for RSPH1 Gene

This gene is overexpressed in Testis (57.6) and Ovary (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RSPH1 Gene



SOURCE GeneReport for Unigene cluster for RSPH1 Gene Hs.661069

mRNA Expression by UniProt/SwissProt for RSPH1 Gene

Q8WYR4-RSPH1_HUMAN
Tissue specificity: Expressed in trachea, lungs, airway brushings, and testes.
genes like me logo Genes that share expression patterns with RSPH1: view

Protein tissue co-expression partners for RSPH1 Gene

- Elite partner

Primer Products

Orthologs for RSPH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RSPH1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RSPH1 35
  • 81.44 (n)
  • 82.52 (a)
RSPH1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RSPH1 35
  • 81 (n)
  • 78.83 (a)
RSPH1 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rsph1 35
  • 80.27 (n)
  • 79.6 (a)
Rsph1 16
Rsph1 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RSPH1 35
  • 98.81 (n)
  • 98.06 (a)
RSPH1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rsph1 35
  • 78.64 (n)
  • 78.52 (a)
oppossum
(Monodelphis domestica)
Mammalia RSPH1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSPH1 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSPH1 35
  • 66.14 (n)
  • 63.75 (a)
RSPH1 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RSPH1 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489385 35
  • 65.66 (n)
  • 68.69 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13352 35
zebrafish
(Danio rerio)
Actinopterygii LOC101886817 35
  • 65.53 (n)
  • 66.34 (a)
RSPH1 36
  • 64 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10498 35
fruit fly
(Drosophila melanogaster)
Insecta CG5458 36
  • 29 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.382 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.352 36
  • 52 (a)
OneToOne
Species with no ortholog for RSPH1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 RSPH1 Gene

ENSEMBL:
Gene Tree for RSPH1 (if available)
TreeFam:
Gene Tree for RSPH1 (if available)

Paralogs for RSPH1 Gene

Paralogs for RSPH1 Gene

(3) SIMAP similar genes for RSPH1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with RSPH1: view

Variants for RSPH1 Gene

Sequence variations from dbSNP and Humsavar for RSPH1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
VAR_070564 Ciliary dyskinesia, primary, 24 (CILD24)
rs1127455 -- 42,472,636(-) GCAGA(A/G)CGAGA utr-variant-3-prime
rs1153362 -- 42,482,846(+) GTGAA(C/T)TCGTG intron-variant
rs1153363 -- 42,484,855(+) ATGAA(A/G)ACTAA intron-variant
rs4920111 -- 42,475,551(+) TGACA(C/T)AGCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RSPH1 Gene

Variant ID Type Subtype PubMed ID
dgv4749n71 CNV Gain 21882294
nsv522001 CNV Gain 19592680
nsv834103 CNV Gain 17160897
dgv757e201 CNV Deletion 23290073
esv2723549 CNV Deletion 23290073
nsv819777 CNV Loss 19587683

Variation tolerance for RSPH1 Gene

Residual Variation Intolerance Score: 94.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.10; 61.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RSPH1 Gene

Human Gene Mutation Database (HGMD)
RSPH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSPH1 Gene

Disorders for RSPH1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for RSPH1 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RSPH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RSPH1_HUMAN
  • Ciliary dyskinesia, primary, 24 (CILD24) [MIM:615481]: 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. Situs inversus is not observed in CILD24 patients. {ECO:0000269 PubMed:23993197, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry. RSPH1 mutations result in a primary ciliary diskinesia phenotype with defects of the radial spokes and the axonemal central pair of microtubules (PubMed:23993197). {ECO:0000269 PubMed:23993197}.

Relevant External Links for RSPH1

Genetic Association Database (GAD)
RSPH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RSPH1
genes like me logo Genes that share disorders with RSPH1: view

No data available for Genatlas for RSPH1 Gene

Publications for RSPH1 Gene

  1. Molecular cloning and characterization of meichroacidin (male meiotic metaphase chromosome-associated acidic protein). (PMID: 9578619) Tsuchida J. … Nishimune Y. (Dev. Biol. 1998) 2 3 4 67
  2. Radial spoke protein 44 (human meichroacidin) is an axonemal alloantigen of sperm and cilia. (PMID: 17451891) Shetty J. … Herr J.C. (Gene 2007) 2 3 23
  3. Mapping of eight testis-specific genes to mouse chromosomes. (PMID: 9403069) Taketo M.M. … Seldin M.F. (Genomics 1997) 2 3
  4. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. (PMID: 24568568) Knowles M.R. … Zariwala M.A. (Am. J. Respir. Crit. Care Med. 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for RSPH1 Gene

Sources for RSPH1 Gene

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