| Type | Description |
|---|---|
| Definition | radial spoke head component 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:50:00 | Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. | 31772028 |
| 2015-10-17 11:47:00 | RSPH1 mutations in primary ciliary dyskinesia cause structural defects in the cilia. | 25473808 |
| 2014-05-10 10:05:00 | Milder disease in patients with biallelic mutations in RSPH1 provides evidence of a unique genotype-phenotype relationship in primary ciliary dyskinesia, suggesting that mutations in RSPH1 may be associated with residual ciliary function. | 24568568 |
| 2013-11-16 11:20:00 | RSPH1 mutations thus appear as a major etiology for primary ciliary dyskinesia phenotype. | 23993197 |
| 2010-01-21 00:00:00 | Radial spoke protein 44 denotes the restricted localization of the protein to the radial spokes of the axonemes of both sperm and cilia. | 17451891 |
| Type | IDs |
|---|---|
| Synonymous | CT79, RSP44, RSPH10A, TSA2, TSGA2 |
| Gene |
UniProtKB-ID:
RSPH1_HUMAN
UniprotKB:
Q8WYR4
UniParc:
UPI000004FA34,
UPI000004FA38
EMBL:
AB006536,
AB041016,
BC113367,
CH471079,
AK314746,
BC101519,
AP001624,
AP001625
Ensembl:
ENSG00000160188
KO:
hsa:89765
|
| Nucleutide sequences |
EMBL-CDS:
BAB92995.1,
AAI01520.1,
AAI13368.1,
BAB83694.1,
EAX09557.1,
BAG37286.1
Ensembl_TRS:
ENST00000291536,
ENST00000398352
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000381395,
ENSP00000291536
RefSeq:
NP_543136.1,
XP_005261265.1,
XP_011528088.1,
NP_001273435.1
|
| Others |
UniRef100:
UniRef100_Q8WYR4
UniRef90:
UniRef90_Q8WYR4
UniRef50:
UniRef50_Q8WYR4
UniGene:
Hs.661069
CCDS:
CCDS68210.1,
CCDS13688.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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