RSPH1
entrez
89765
canonical
uniprot
Q8WYR4
canonical
ensembl
ENSG00000160188
resolver
ensp
ENSP00000291536
resolver
ensp
ENSP00000381395
resolver
ensp
ENSP00000526577
resolver
ensp
ENSP00000526578
resolver
genesymbol
RSPH1
resolver
genesymbol_syn
TSA2
resolver
genesymbol_syn
TSGA2
resolver
hgnc
HGNC:12371
resolver
uniprot
A8MWV0
resolver
uniprot
B2RBN9
resolver
uniprot
Q3MJA1
resolver
uniprot_entry
RSPH1_HUMAN
resolver
uniprot_sec
A8MWV0
resolver
uniprot_sec
B2RBN9
resolver
uniprot_sec
Q3MJA1
resolver
amino_acid_sequence
MSDLGSEELEEEGENDIGEYEGGRNEAGERHGRGRARLPNGDTYEGSYEFGKRHGQGIYKFKNGARYIGEYVRNKKHGQGTFIYPDGSRYEGEWANDLRHGHGVYYYINNDTYTGEWFAHQRHGQGTYLYAETGSKYVGTWVNGQQEGTAELIHLNHRYQGKFLNKNPVGPGKYVFDVGCEQHGEYRLTDMERGEEEEEEELVTVVPKWKATQITELALWTPTLPKKPTSTDGPGQDAPGAESAGEPGEEAQALLEGFEGEMDMRPGDEDADVLREESREYDQEEFRYDMDEGNINSEEEETRQSDLQD
uniprot
proteins
disease_involvement
DISEASE: 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 variants 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}.
uniprot
proteins
function
FUNCTION: Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia. {ECO:0000269|PubMed:23993197}.
uniprot
proteins
mass_dalton
35124
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23993197
uniprot
proteins
pubmed
25186273
uniprot
proteins
pubmed
9578619
uniprot
proteins
sequence_length
309
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8VIG3}. Chromosome {ECO:0000250|UniProtKB:Q8VIG3}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:23993197}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q8VIG3}. Note=Cytoplasmic in late spermatocytes, secondary spermatocytes and round spermatids. Gathered around metaphase chromosomes during meiotic divisions. {ECO:0000250|UniProtKB:Q8VIG3}.
uniprot
proteins