GeneID: 270


Common Name: RSPH3 Type: Gene
Chromosome: 6 (NC_000006.12) Locus: NG_051819.1 (RSPH3)
HUGO Symbol: RSPH3 Full Name: radial spoke head 3
Exons: 8 Introns: 7

RSPH3 is one of the many radial spoke proteins identified in the blue-green algae Chlamydomonas, which form a large multisubunit complex required for flagellar motility. Radial spoke proteins are important for signal transduction. The human homologue acts as a protein kinase A anchoring protein that scaffolds the cAMP-dependent protein kinase (PKA) holoenzyme. RASPH3 also interacts with ERK1/2 and may serve as a point of convergence for ERK1/2 MAPK and PKA signalling. Both MAPK (ERK1/2, p38, JNK/Jun) and cAMP-dependent pathways have been implicated in the regulation of hydroxyurea-induced Hb F. A variation in RSPH3 associated with Hb F response to hydroxyurea in sickle cell disease cohorts.

Synonyms: RSP3 , RSHL2 , CILD32 , dJ111C20.1


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Publications / Origin

  1. Jivan A, Earnest S, Juang YC, Cobb MH, Radial spoke protein 3 is a mammalian protein kinase A-anchoring protein that binds ERK1/2., J. Biol. Chem., 284(43), 29437-45, 2009 PubMed
  2. Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014 PubMed
  3. Pule GD, Mowla S, Novitzky N, Wiysonge CS, Wonkam A, A systematic review of known mechanisms of hydroxyurea-induced fetal hemoglobin for treatment of sickle cell disease., Expert Rev Hematol, 8(5), 669-79, 2015 PubMed
Created on 2019-09-24 13:10:22, Last reviewed on (Show full history)

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