RSPH1

RSPH1 is a male meiotic metaphase chromosome-associated acidic protein. RSPH1 is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in RSPH1 result in primary ciliary dyskinesia-24.

Full Name

Radial Spoke Head 1 Homolog

Function

May play an important role in male meiosis (By similarity).
It is necessary for proper building of the axonemal central pair and radial spokes.

Biological Process

Biological Process axoneme assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process meiotic cell cycleIEA:UniProtKB-KW
Biological Process spermatid developmentManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Cytoplasm
Cell projection, cilium
Cytoplasmic in late spermatocytes, secondary spermatocytes and round spermatids. Gathered around metaphase chromosomes during meiotic divisions (By similarity).

Involvement in disease

Ciliary dyskinesia, primary, 24 (CILD24):
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. Situs inversus is not observed in CILD24 patients.