RSPH1

Radial spoke head 1 homolog (RSPH1), also known as cancer/testis antigen 79 (CT79) or testis-specific gene A2 protein (TSGA2), is a protein that in humans is encoded by the RSPH1 gene.^[5]

RSPH1
Identifiers
Aliases	RSPH1, CILD24, RSP44, RSPH10A, TSA2, TSGA2, CT79, radial spoke head 1 homolog, radial spoke head component 1
External IDs	OMIM: 609314; MGI: 1194909; HomoloGene: 11905; GeneCards: RSPH1; OMA:RSPH1 - orthologs
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q22.3 Start 42,472,486 bp[1] End 42,496,246 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 B1|17 15.94 cM Start 31,473,993 bp[2] End 31,496,357 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell right uterine tube mucosa of paranasal sinus olfactory zone of nasal mucosa sperm trachea epithelium of nasopharynx pancreatic ductal cell caput epididymis nasal epithelium Top expressed in seminiferous tubule spermatocyte spermatid Epithelium of choroid plexus olfactory epithelium right lung lobe utricle vestibular sensory epithelium left lung left lung lobe More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm condensed nuclear chromosome meiotic spindle outer dense fiber cytosol cell projection motile cilium sperm flagellum cilium nucleus Biological process meiosis axoneme assembly spermatid development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 89765 22092 Ensembl ENSG00000160188 ENSMUSG00000024033 UniProt Q8WYR4 Q8VIG3 RefSeq (mRNA) NM_001286506 NM_080860 NM_025290 NM_001364916 RefSeq (protein) NP_001273435 NP_543136 NP_079566 NP_001351845 Location (UCSC) Chr 21: 42.47 – 42.5 Mb Chr 17: 31.47 – 31.5 Mb PubMed search [3] [4]
Wikidata
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Function

This protein is a part of axoneme, which forms the core of a cilium or flagellum.

Clinical significance

Mutations in RSPH1 are associated to Primary ciliary dyskinesia.^[6]