Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 89765
MIM: 609314
HGNC: 12371
Ensembl: ENSG00000160188
Variants:
dbSNP: 89765
ClinVar: 89765
TCGA: ENSG00000160188
COSMIC: RSPH1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000160188 | ENST00000291536 | Q8WYR4 |
| ENSG00000160188 | ENST00000398352 | Q8WYR4 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34008076 | 2021 | Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus. | 1 |
| 34008076 | 2021 | Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus. | 1 |
| 31772028 | 2020 | Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. | 12 |
| 31772028 | 2020 | Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. | 12 |
| 24568568 | 2014 | Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. | 100 |
| 25473808 | 2014 | Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia. | 72 |
| 24568568 | 2014 | Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. | 100 |
| 25473808 | 2014 | Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia. | 72 |
| 23993197 | 2013 | Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. | 72 |
| 23993197 | 2013 | Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. | 72 |
| 17451891 | 2007 | Radial spoke protein 44 (human meichroacidin) is an axonemal alloantigen of sperm and cilia. | 11 |
| 17451891 | 2007 | Radial spoke protein 44 (human meichroacidin) is an axonemal alloantigen of sperm and cilia. | 11 |
Citation
Dessen P
RSPH1 (radial spoke head component 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72906/rsph1-(radial-spoke-head-component-1)
