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RIBOSOMAL PROTEIN S6 KINASE A6; RPS6KA6

RIBOSOMAL PROTEIN S6 KINASE A6; RPS6KA6

Alternative titles; symbolsRIBOSOMAL PROTEIN S6 KINASE, 90-KD, 6RIBOSOMAL S6 KINASE 4; RSK4HGNC Approved Gene Symbol: RPS6KA6Cytogenetic location: Xq21.1 Gen...

Alternative titles; symbols

  • RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 6
  • RIBOSOMAL S6 KINASE 4; RSK4

HGNC Approved Gene Symbol: RPS6KA6

Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38): X:84,058,345-84,188,198 (from NCBI)

▼ Description
The RSK (ribosomal S6 kinase) family comprises growth factor-regulated serine/threonine kinases. The highly conserved feature of all members of the RSK family is the presence of 2 nonidentical kinase catalytic domains, each of which is shared by other distinct protein kinases. RSKs are implicated in the activation of the mitogen-activated kinase (MAPK) cascade (see 176872) (summary by Yntema et al., 1999).

▼ Cloning and Expression
Using a positional cloning approach, Yntema et al. (1999) identified a novel member of the RSK family, designated RPS6KA6 or RSK4, within the mental retardation (MRX) critical region at Xq21. The RSK4 cDNA, which was cloned from a retina cDNA library, encodes a deduced 746-amino acid protein that shares high homology with previously characterized RSK proteins RSK1 (601684), RSK2 (300075), and RSK3 (602685). Northern blot analysis detected expression of 3 transcripts of approximately 3, 6.5, and 9 kb, with the 6.5-kb transcript being most prominent. Expression was most abundant in fetal and adult kidney and brain and lower in all other tissues tested.

▼ Gene Structure
Yntema et al. (1999) determined that the RSK4 gene contains at least 22 exons and spans approximately 75 kb of genomic DNA.

▼ Molecular Genetics
Exclusion Studies

Yntema et al. (1999) screened 200 unrelated males with MRX linked to the Xq21 region and found no causative mutations in the RSK4 gene.

Tags: Xq21.1