RSHL3 Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to a subfiber of the outer doublet microtubule, and a bulbous head which is attached to the stalk and appears to interact with the projections from the central pair of microtubules. Defects in RSPH4A are the cause of primary ciliary dyskinesia type 11 (CILD11). CILD is an autosomal recessive disorder characterized by axonemal 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. Belongs to the flagellar radial spoke RSP4/6 family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 6q22.1
Cellular Component:  axoneme; motile cilium; nucleolus; nucleoplasm; nucleus; radial spoke
Biological Process:  axoneme assembly; cilium movement
Disease: Ciliary Dyskinesia, Primary, 11
Reference #:  Q5TD94 (UniProtKB)
Alt. Names/Synonyms: CILD11; dJ412I7.1; FLJ37974; MGC126303; radial spoke head 4 homolog A (Chlamydomonas); Radial spoke head protein 4 homolog A; Radial spoke head-like protein 3; radial spokehead-like 3; RSH4A; RSHL3; RSPH4A; RSPH6B
Gene Symbols: RSPH4A
Molecular weight: 80,733 Da
Basal Isoelectric point: 4.38  Predict pI for various phosphorylation states
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RSHL3

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene