RSPH4A
entrez
345895
canonical
uniprot
Q5TD94
canonical
ensembl
ENSG00000111834
resolver
ensp
ENSP00000229554
resolver
ensp
ENSP00000357570
resolver
ensp
ENSP00000666581
resolver
genesymbol
RSPH4A
resolver
genesymbol_syn
RSHL3
resolver
hgnc
HGNC:21558
resolver
uniprot
B3KTA9
resolver
uniprot
B4DSI1
resolver
uniprot
Q3KP24
resolver
uniprot
Q5TD95
resolver
uniprot_entry
B3KTA9_HUMAN
resolver
uniprot_entry
RSH4A_HUMAN
resolver
uniprot_sec
B4DSI1
resolver
uniprot_sec
Q3KP24
resolver
uniprot_sec
Q5TD95
resolver
amino_acid_sequence
MEDSTSPKQEKENQEELGETRRPWEGKTAASPQYSEPESSEPLEAKQGPETGRQSRSSRPWSPQSRAKTPLGGPAGPETSSPAPVSPREPSSSPSPLAPARQDLAAPPQSDRTTSVIPEAGTPYPDPLEQSSDKRESTPHHTSQSEGNTFQQSQQPKPHLCGRRDVSYNNAKQKELRFDVFQEEDSNSDYDLQQPAPGGSEVAPSMLEITIQNAKAYLLKTSSNSGFNLYDHLSNMLTKILNERPENAVDIFENISQDVKMAHFSKKFDALQNENELLPTYEIAEKQKALFLQGHLEGVDQELEDEIAENALPNVMESAFYFEQAGVGLGTDETYRIFLALKQLTDTHPIQRCRFWGKILGLEMNYIVAEVEFREGEDEEEVEEEDVAEERDNGESEAHEDEEDELPKSFYKAPQAIPKEESRTGANKYVYFVCNEPGRPWVKLPPVIPAQIVIARKIKKFFTGRLDAPIISYPPFPGNESNYLRAQIARISAGTHVSPLGFYQFGEEEGEEEEEAEGGRNSFEENPDFEGIQVIDLVESLSNWVHHVQHILSQGRCNWFNSIQKNEEEEEEEDEEKDDSDYIEQEVGLPLLTPISEDLEIQNIPPWTTRLSSNLIPQYAIAVLQSNLWPGAYAFSNGKKFENFYIGWGHKYSPDNYTPPVPPPVYQEYPSGPEITEMDDPSVEEEQAFRAAQEAVLLAAENEESEEDEDEEDDYD
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649]: 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, ECO:0000269|PubMed:23798057, ECO:0000269|PubMed:23993197, ECO:0000269|PubMed:25186273}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the axonemal radial spoke head which plays an important role in ciliary motility (PubMed:19200523). Essential for triplet radial spokes (RS1, RS2 and RS3) head assembly in the motile cilia (By similarity). {ECO:0000250|UniProtKB:Q8BYM7, ECO:0000269|PubMed:19200523}.
uniprot
proteins
mass_dalton
80733
uniprot
proteins
protein_family
Flagellar radial spoke RSP4/6 family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19200523
uniprot
proteins
pubmed
23798057
uniprot
proteins
pubmed
23993197
uniprot
proteins
pubmed
25186273
uniprot
proteins
sequence_length
716
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000305}. Cell projection, cilium {ECO:0000269|PubMed:19200523}.
uniprot
proteins