RSPH9
entrez
221421
canonical
uniprot
Q9H1X1
canonical
ensembl
ENSG00000172426
resolver
ensp
ENSP00000361236
resolver
ensp
ENSP00000361238
resolver
ensp
ENSP00000560804
resolver
ensp
ENSP00000659867
resolver
genesymbol
RSPH9
resolver
genesymbol_syn
C6orf206
resolver
genesymbol_syn
MRPS18AL1
resolver
hgnc
HGNC:21057
resolver
uniprot
A8K5T4
resolver
uniprot
Q96NH9
resolver
uniprot_entry
RSPH9_HUMAN
resolver
uniprot_sec
A8K5T4
resolver
uniprot_sec
Q96NH9
resolver
amino_acid_sequence
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCTEWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEEIVVQIKEETRLVSVIDQIDKAVAIIPRGALFKTPFGPTHVNRTFEGLSLSEAKKLSSYFHFREPVELKNKTLLEKADLDPSLDFMDSLEHDIPKGSWSIQMERGNALVVLRSLLWPGLTFYHAPRTKNYGYVYVGTGEKNMDLPFML
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 12 (CILD12) [MIM:612650]: 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; 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. {ECO:0000269|PubMed:19200523}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia (PubMed:19200523). Essential for both the radial spoke head assembly and the central pair microtubule stability in ependymal motile cilia (By similarity). Required for motility of olfactory and neural cilia and for the structural integrity of ciliary axonemes in both 9+0 and 9+2 motile cilia (By similarity). {ECO:0000250|UniProtKB:Q5TYW6, ECO:0000250|UniProtKB:Q9D9V4, ECO:0000269|PubMed:19200523}.
uniprot
proteins
mass_dalton
31292
uniprot
proteins
protein_family
Flagellar radial spoke RSP9 family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19200523
uniprot
proteins
pubmed
38091523
uniprot
proteins
sequence_length
276
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q9D9V4}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q9D9V4}. Cell projection, kinocilium {ECO:0000250|UniProtKB:Q5TYW6}.
uniprot
proteins