RSPH1

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
View/Edit HumanView/Edit Mouse

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]

Function

[edit]

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

Clinical significance

[edit]

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

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000160188Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024033Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "RSPH1 radial spoke head component 1 [ Homo sapiens (human) ]".
  6. ^ Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S (September 2013). "Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects". Am. J. Hum. Genet. 93 (3): 561–70. doi:10.1016/j.ajhg.2013.07.013. PMC 3769924. PMID 23993197.

Further reading

[edit]