Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6197
Gene name Gene Name - the full gene name approved by the HGNC.
Ribosomal protein S6 kinase A3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RPS6KA3
Synonyms (NCBI Gene) Gene synonyms aliases
CLS, HU-3, ISPK-1, MAPKAPK1B, MRX19, RSK, RSK2, S6K-alpha3, XLID19, p90-RSK2, pp90RSK2
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.12
Summary Summary of gene provided in NCBI Entrez Gene.
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) s
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28935171 C>T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs122454124 C>A Pathogenic Coding sequence variant, missense variant
rs122454125 A>C Pathogenic Coding sequence variant, missense variant
rs122454126 C>A,T Pathogenic Coding sequence variant, missense variant
rs122454127 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030861 hsa-miR-21-5p Microarray 18591254
MIRT031564 hsa-miR-16-5p Microarray 21199864
MIRT049971 hsa-miR-29a-3p CLASH 23622248
MIRT044599 hsa-miR-320a CLASH 23622248
MIRT041136 hsa-miR-503-5p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
NR3C1 Activation 11705993
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IEA
GO:0001501 Process Skeletal system development TAS 8955270
GO:0002224 Process Toll-like receptor signaling pathway IEA
GO:0002224 Process Toll-like receptor signaling pathway ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300075 10432 ENSG00000177189
Protein
UniProt ID P51812
Protein name Ribosomal protein S6 kinase alpha-3 (S6K-alpha-3) (EC 2.7.11.1) (90 kDa ribosomal protein S6 kinase 3) (p90-RSK 3) (p90RSK3) (Insulin-stimulated protein kinase 1) (ISPK-1) (MAP kinase-activated protein kinase 1b) (MAPK-activated protein kinase 1b) (MAPKAP
Protein function Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through R
PDB 4D9T , 4D9U , 4JG6 , 4JG7 , 4JG8 , 4NUS , 4NW5 , 4NW6 , 5D9K , 5D9L , 7OPO , 8EQ5 , 8R58 , 8XEY , 8XFY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 68 327 Protein kinase domain Domain
PF00433 Pkinase_C 350 387 Protein kinase C terminal domain Family
PF00069 Pkinase 422 679 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues, highest levels in skeletal muscle.
Sequence
Sequence length 740
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
Oocyte meiosis
mTOR signaling pathway
Thermogenesis
Long-term potentiation
Neurotrophin signaling pathway
Progesterone-mediated oocyte maturation
Insulin resistance
Yersinia infection
Chemical carcinogenesis - receptor activation
  ERK/MAPK targets
CREB phosphorylation
Senescence-Associated Secretory Phenotype (SASP)
CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling
RSK activation
Gastrin-CREB signalling pathway via PKC and MAPK
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Coffin-Lowry Syndrome coffin-lowry syndrome rs1555943479, rs1085307639, rs1555943484, rs122454130, rs1555927532, rs122454124, rs1603426293, rs1555943492, rs1325953089, rs122454125, rs1603417213, rs1555943503, rs1603417191, rs122454126, rs2147483647
View all (16 more)
N/A
Mental retardation intellectual disability rs28935171, rs1555943484 N/A
Mental Retardation, X-Linked Intellectual disability, X-linked 19 rs797045920, rs122454129, rs1555924331, rs398122813, rs387906703 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Developmental Delay global developmental delay N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 10528858
Breast Neoplasms Associate 27476168, 27852068, 28582508, 35022570
Carcinogenesis Associate 24988079
Carcinoma Hepatocellular Associate 22561517, 23082062, 24988079, 37243268
Coffin Lowry Syndrome Associate 10528858, 11189448, 11992250, 14973203, 17100996, 17318637, 24086335, 25049390, 31512387, 35638718, 35888677, 9832033, 9837815
Cognition Disorders Associate 17318637, 24086335
Colorectal Neoplasms Associate 36045417
Depressive Disorder Major Associate 30945684
Diabetic Foot Associate 33053534
Glioblastoma Associate 25943352, 27132626