RSPH1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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]

AliasesRSPH1, CILD24, RSP44, RSPH10A, TSA2, TSGA2, CT79, radial spoke head 1 homolog, radial spoke head component 1
End42,496,246 bp[1]
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RSPH1
Identifiers
AliasesRSPH1, CILD24, RSP44, RSPH10A, TSA2, TSGA2, CT79, radial spoke head 1 homolog, radial spoke head component 1
External IDsOMIM: 609314; MGI: 1194909; HomoloGene: 11905; GeneCards: RSPH1; OMA:RSPH1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 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]

References

Further reading

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