RSPH1
Radial Spoke Head Component 1
Gene Information Card
| Symbol | RSPH1 |
|---|---|
| Full Name | Radial Spoke Head Component 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 89765 ncbi.nlm.nih.gov/gene/89765 |
| Ensembl ID | ENSG00000160188 |
| UniProt ID | Q8WXF0 |
| OMIM ID | 609314 |
| HGNC ID | 16058 |
| Aliases | RSPH1, RSPH1A, CILD24, MGC13170 |
Description
RSPH1 encodes a component of the radial spoke head in motile cilia, essential for ciliary motility and mucociliary clearance. Mutations in this gene cause primary ciliary dyskinesia type 24 (CILD24), characterized by chronic respiratory infections, situs inversus, and infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 24 (CILD24) | Loss-of-function mutations in RSPH1 disrupt radial spoke assembly, impairing ciliary beat frequency and coordination. | ClinVar, OMIM |
| Primary Ciliary Dyskinesia (general) | RSPH1 variants account for ~2% of PCD cases; associated with reduced ciliary motility and ultrastructural defects. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lung | 8.7 | Medium |
| Trachea | 7.5 | Medium |
| Fallopian tube | 6.9 | Medium |
| Brain | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 5.4 | Ciliated epithelial cell line |
| BEAS-2B | 4.8 | Bronchial epithelial cell line |
| HeLa | 0.9 | Non-ciliated cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.275-2A>G | Splice acceptor | Rare | Loss of function; causes exon skipping and frameshift |
| c.424C>T (p.Arg142*) | Nonsense | Rare | Premature stop codon; loss of protein function |
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Likely damaging; disrupts radial spoke head domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations leading to truncated or absent RSPH1 protein, impairing ciliary motility.
Gain of Function (GOF)
Not reported for RSPH1.
Dominant Negative (DN)
Not reported for RSPH1.
View complete mutation data：
Gene Ontology (GO)
| • cilium movement | • radial spoke assembly |
| • motile cilium | • axoneme |
| • cell projection organization |
Pathways
• Ciliary motility
• Axoneme assembly
Protein Summary
RSPH1 is a 273-amino acid protein localized to the radial spoke head of motile cilia. It interacts with other radial spoke proteins to regulate ciliary beat frequency and waveform. Defects in RSPH1 lead to primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RSPH14 Knockout HEK293 Cell Line | EDJ-KQ8700 | Human | 27156 | Details Get a Quote |
| RSPH10B Knockout HEK293 Cell Line | EDJ-KQ9139 | Human | 222967 | Details Get a Quote |
| RSPH1 Knockout HEK293 Cell Line | EDJ-KQ10502 | Human | 89765 | Details Get a Quote |
| RSPH10B2 Knockout HEK293 Cell Line | EDJ-KQ15132 | Human | 728194 | Details Get a Quote |
| RSPH14 Knockout A-549 Cell Line | EDJ-KQ34922 | Human | 27156 | Details Get a Quote |
| RSPH14 Knockout HCT 116 Cell Line | EDJ-KQ34923 | Human | 27156 | Details Get a Quote |
| RSPH1 Knockout A-549 Cell Line | EDJ-KQ37903 | Human | 89765 | Details Get a Quote |
| RSPH1 Knockout HCT 116 Cell Line | EDJ-KQ37904 | Human | 89765 | Details Get a Quote |
| RSPH14 Knockout HeLa Cell Line | EDJ-KQ56018 | Human | 27156 | Details Get a Quote |
| RSPH1 Knockout HeLa Cell Line | EDJ-KQ57733 | Human | 89765 | Details Get a Quote |
| RSPH10B Knockout HeLa Cell Line | EDJ-KQ59205 | Human | 222967 | Details Get a Quote |
| RSPH10B2 Knockout HeLa Cell Line | EDJ-KQ60691 | Human | 728194 | Details Get a Quote |
| RSPH10B Knockout A-549 Cell Line | EDJ-KQ67672 | Human | 222967 | Details Get a Quote |
| RSPH10B2 Knockout A-549 Cell Line | EDJ-KQ69164 | Human | 728194 | Details Get a Quote |
| RSPH10B Knockout HCT 116 Cell Line | EDJ-KQ76058 | Human | 222967 | Details Get a Quote |
