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Aliases for RSPH1 Gene

Aliases for RSPH1 Gene

  • Radial Spoke Head 1 Homolog (Chlamydomonas) 2 3
  • Meichroacidin 2 3 4
  • TSGA2 3 4 6
  • TSA2 3 4 6
  • Male Meiotic Metaphase Chromosome-Associated Acidic Protein 3 4
  • Cancer/Testis Antigen 79 3 4
  • CT79 3 4
  • Testis Specific A2 Homolog (Mouse) 2
  • Testes Specific Gene A2 Homolog 3
  • Testis-Specific Gene A2 Protein 4
  • Radial Spoke Head 1 Homolog 3
  • Testis Specific A2 Homolog 3
  • RSPH10A 3
  • CILD24 6
  • RSP44 3

External Ids for RSPH1 Gene

Previous Symbols for RSPH1 Gene

  • TSGA2

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 (Chlamydomonas)) is a Protein Coding gene. Diseases associated with RSPH1 include ciliary dyskinesia, primary, 24. An important paralog of this gene is MORN1.

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

Genomic Location for RSPH1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RSPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSPH1 Gene

Regulatory Elements 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 for RSPH1 Gene

Protein Domains for RSPH1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

RSPH1_HUMAN
Similarity:
  • Contains 6 MORN repeats.:
    • Q8WYR4
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.

Gene Ontology (GO) - Molecular Function for RSPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RSPH1: view
genes like me logo Genes that share phenotypes with RSPH1: view

Animal Models for RSPH1 Gene

MGI Knock Outs for RSPH1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
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
genes like me logo Genes that share ontologies with RSPH1: view

Pathways 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:0035082 axoneme assembly IMP 23993197
GO:0051321 meiotic cell cycle IEA --
genes like me logo Genes that share ontologies with RSPH1: view

No data available for Pathways by source for RSPH1 Gene

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) (4.8), Brain - Nucleus accumbens (basal ganglia) (4.5), Pituitary (4.5), Testis (4.3), and Brain - Hypothalamus (4.0).

Integrated Proteomics: protein expression 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 expressions with RSPH1: view

Orthologs for RSPH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RSPH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RSPH1 36
  • 98.81 (n)
  • 98.06 (a)
RSPH1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RSPH1 36
  • 81.44 (n)
  • 82.52 (a)
RSPH1 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RSPH1 36
  • 81 (n)
  • 78.83 (a)
RSPH1 37
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rsph1 36
  • 80.27 (n)
  • 79.6 (a)
Rsph1 16
Rsph1 37
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RSPH1 37
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSPH1 37
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rsph1 36
  • 78.64 (n)
  • 78.52 (a)
chicken
(Gallus gallus)
Aves RSPH1 36
  • 66.14 (n)
  • 63.75 (a)
RSPH1 37
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RSPH1 37
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13352 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489385 36
  • 65.66 (n)
  • 68.69 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10498 36
zebrafish
(Danio rerio)
Actinopterygii LOC101886817 36
  • 65.53 (n)
  • 66.34 (a)
RSPH1 37
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5458 37
  • 29 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.382 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.352 37
  • 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

Selected 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 MAF
rs1043807 -- 42,472,765(-) TTAGC(C/T)GGGTG utr-variant-3-prime
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
rs1573413 -- 42,496,229(+) TAGCA(A/G)GTGGG utr-variant-5-prime

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

Relevant External Links for RSPH1 Gene

HapMap Linkage Disequilibrium report
RSPH1
Human Gene Mutation Database (HGMD)
RSPH1

Disorders for RSPH1 Gene

(1) OMIM Diseases for RSPH1 Gene (609314)

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

Publications for RSPH1 Gene

  1. 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
  2. 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
  3. Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. (PMID: 23993197) Kott E. … Amselem S. (Am. J. Hum. Genet. 2013) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for RSPH1 Gene

Sources for RSPH1 Gene

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