Human Gene RSPH9 (ENST00000372163.5) Description and Page Index
Description: Homo sapiens radial spoke head 9 homolog (RSPH9), transcript variant 1, mRNA. (from RefSeq NM_152732) RefSeq Summary (NM_152732): This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]. Gencode Transcript: ENST00000372163.5 Gencode Gene: ENSG00000172426.16 Transcript (Including UTRs) Position: hg38 chr6:43,645,036-43,672,600 Size: 27,565 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr6:43,645,099-43,670,949 Size: 25,851 Coding Exon Count: 5
ID:RSPH9_HUMAN DESCRIPTION: RecName: Full=Radial spoke head protein 9 homolog; 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. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme (Probable). Note=Radial spoke (Probable). DISEASE: Defects in RSPH9 are the cause of primary ciliary dyskinesia type 12 (CILD12) [MIM:612650]. CILD is an autosomal recessive disorder characterized by axonemal 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. SIMILARITY: Belongs to the flagellar radial spoke RSP9 family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF04712 - Radial spokehead-like protein
ModBase Predicted Comparative 3D Structure on Q9H1X1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.