RSPH3

The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]

Description

Radial spoke head 3

Tissue specificity

Low tissue specificity

Subcell location

Plasma membrane, Cytosol

Predicted location

Intracellular

Protein family

Human disease related genes
Predicted intracellular proteins

Chromosome

6 (158972871 - 159000202)

Ensembl ID

ENSG00000130363  (ver. 103.38)

Orthologs

-

UniProt

 

neXtProt

 

Human splice variants

Protein structure