RPS6KC1

Chr 1q32.3

ribosomal protein S6 kinase C1

Aliases:: humS6PKh1, RSKL1
MANE:: ENST00000366960.8

OMIM: 617517 ↗NCBI: 26750 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RPS6KC1 · Q96S38

v62025-08-01

Predicted Aligned Error matrix for RPS6KC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

55.9/ 100

Low

1,066 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)25%
Low(50–70)5%
Very low(< 50)56%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

complex neurodevelopmental disorder
0.42
Alzheimer disease
0.32
lysosomal storage disease
0.32
Parkinson disease
0.32
neurodegenerative disease
0.32
multiple sclerosis
0.32
Global developmental delay
0.26
Delayed myelination
0.26
Hypoplasia of the corpus callosum
0.26
Abnormal cerebral white matter morphology
0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Inactive ribosomal protein S6 kinase delta-1

May be involved in transmitting sphingosine-1 phosphate (SPP)-mediated signaling into the cell (PubMed:12077123). Plays a role in the recruitment of PRDX3 to early endosomes (PubMed:15750338)