RSPH4A

This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Description

Radial spoke head component 4A

Tissue specificity

Group enriched (choroid plexus, fallopian tube)

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

6 (116616479 - 116632985)

Ensembl ID

ENSG00000111834  (ver. 103.38)

Orthologs

Mouse Rsph4a: ENSMUSG00000039552

UniProt

Q5TD94

neXtProt

NX_Q5TD94

Human splice variants
Mouse splice variants

Protein structure