Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]
RPS6KA3 (Ribosomal Protein S6 Kinase A3) is a Protein Coding gene. Diseases associated with RPS6KA3 include Coffin-Lowry Syndrome and Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers. Among its related pathways are ERK Signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is RPS6KA2.
Ribosomal S6 protein kinases (RSKs) are a family of protein serine/threonine kinases that regulate diverse cellular processes such as cellular growth, motility, survival and proliferation. The RSK family can be divided into two subfamilies, namely p90 RSK and p70 S6K.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000287 | magnesium ion binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA,TAS | 10436156 |
GO:0004674 | protein serine/threonine kinase activity | IEA,IBA | 21873635 |
GO:0004711 | ribosomal protein S6 kinase activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | IDA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated TLR4 signalling | ||
2 | Post NMDA receptor activation events |
.01
|
|
3 | Nuclear Events (kinase and transcription factor activation) |
.88
|
|
4 | GDNF-Family Ligands and Receptor Interactions |
GDNF-Family Ligands and Receptor Interactions
.41
Development GDNF family signaling
.41
|
BDNF Pathway
.39
|
5 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
|
ERK5 Signaling
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | TAS | 8955270 |
GO:0002224 | toll-like receptor signaling pathway | ISS | -- |
GO:0006468 | protein phosphorylation | IEA | -- |
GO:0006915 | apoptotic process | IEA | -- |
GO:0007049 | cell cycle | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Aspirin | Approved, Vet_approved | Pharma | Target, inhibitor | 1578 | ||
fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
ATP | Investigational | Nutra | 0 | |||
AT9283 | Investigational | Pharma | inhibitor | Aurora kinase/JAK inhibitor, Kinase Inhibitors, Inhibitors of mitosis Aurora kinase inhibitors | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
|||
RMM 46 |
|
1307896-46-3 |
|
|
Compound | Action | Cas Number |
---|---|---|
BRD 7389 | Ribosomal S6 kinase inhibitor | 376382-11-5 |
PF 4708671 | S6K1 inhibitor | 1255517-76-0 |
RMM 46 | MSK/RSK family kinase inhibitor | 1307896-46-3 |
SL 0101-1 | Selective ribosomal S6 kinase (RSK) inhibitor | 77307-50-7 |
Compound | Action | Cas Number |
---|---|---|
BI-D1870 | P90 RSK inhibitor,ATP-competitive and cell-permeable | 501437-28-1 |
BIX 02565 | RSK2 inhibitor | 1311367-27-7 |
BRD 7389 | P90 RSK inhibitor | 376382-11-5 |
CMK | RSK2 kinase inhibitor | 821794-90-5 |
PF-4708671 | P70 S6K1 isoform inhibitor,cell-permeable | 1255517-76-0 |
SL 0101-1 | 77307-50-7 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Oppossum (Monodelphis domestica) |
Mammalia | RPS6KA3 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | RPS6KA3 30 |
|
||
Dog (Canis familiaris) |
Mammalia | RPS6KA3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RPS6KA3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rps6ka3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rps6ka3 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RPS6KA3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RPS6KA3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RPS6KA3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100496161 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.33175 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rps6ka3a 31 |
|
OneToMany | |
rps6ka3b 30 31 |
|
OneToMany | |||
Dr.21039 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003040 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | S6kII 30 31 32 |
|
OneToMany | |
Pk17E 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | T01H8.1b 32 |
|
|
|
rskn-1 31 |
|
OneToMany | |||
R04A9.5 32 |
|
|
|||
F28C10.3 32 |
|
|
|||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.5313 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.3835 30 |
|
||
Barley (Hordeum vulgare) |
Liliopsida | Hv.12219 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os.11068 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8096 30 |
|
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
225519 | Pathogenic: Mental retardation, X-linked 19; Coffin-Lowry syndrome | 20,177,017(-) |
G/A NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter) |
NONSENSE | |
620064 | Likely Pathogenic: Mental retardation, X-linked 19; Coffin-Lowry syndrome | 20,187,953(-) |
C/T NM_004586.3(RPS6KA3):c.649G>A (p.Glu217Lys) |
MISSENSE | |
842764 | Uncertain Significance: Mental retardation, X-linked 19; Coffin-Lowry syndrome | 20,176,348(-) |
A/G NM_004586.3(RPS6KA3):c.1004T>C (p.Leu335Pro) |
MISSENSE | |
860809 | Uncertain Significance: Mental retardation, X-linked 19; Coffin-Lowry syndrome | 20,176,431(-) |
T/TA NM_004586.3(RPS6KA3):c.999+2dup |
SPLICE_DONOR | |
930812 | Uncertain Significance: Mental retardation, X-linked 19 | 20,195,160(-) |
A/AT NM_004586.3(RPS6KA3):c.326-16dup |
INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2672797 | CNV | deletion | 23128226 |
esv3558672 | CNV | deletion | 23714750 |
esv3576795 | CNV | gain | 25503493 |
nsv478641 | CNV | novel sequence insertion | 20440878 |
nsv520690 | CNV | gain | 19592680 |
nsv526033 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
coffin-lowry syndrome |
|
|
symptomatic form of coffin-lowry syndrome in female carriers |
|
|
non-syndromic x-linked intellectual disability |
|
|
cohen syndrome |
|
|
disease of mental health |
|
|