Gene Gene information from NCBI Gene database.
Entrez ID 6197
Gene name Ribosomal protein S6 kinase A3
Gene symbol RPS6KA3
Synonyms (NCBI Gene)
CLSHU-3ISPK-1MAPKAPK1BMRX19RSKRSK2S6K-alpha3XLID19p90-RSK2pp90RSK2
Chromosome X
Chromosome location Xp22.12
Summary 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.
65
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.
1051
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
NR3C1 Activation 11705993
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300075 10432 ENSG00000177189
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
544
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Coffin-Lowry syndrome Likely pathogenic; Pathogenic rs398124177, rs2148701884, rs2148721944, rs2148662359, rs2148653302, rs2148701829, rs2148686736, rs2148664069, rs2148649846, rs2148622591, rs2148686409, rs2148686334, rs2148721928, rs2519573579, rs2519686958
View all (58 more)
RCV000760975
RCV001376010
RCV001387622
RCV001788499
RCV001528143
RCV001528116
RCV001806395
RCV001843842
RCV001976344
RCV002014963
RCV002007421
RCV001942278
RCV006257356
RCV002283714
RCV002471454
RCV003041426
RCV003041427
RCV002914310
RCV003045421
RCV003029482
RCV000210889
RCV003223525
RCV000012417
RCV000012418
RCV000012419
RCV000012420
RCV000012421
RCV000012422
RCV000012423
RCV000012424
RCV000012426
RCV000012427
RCV000012429
RCV003233428
RCV000012430
RCV000012432
RCV000012433
RCV003322706
RCV004594694
RCV003806196
RCV003815530
RCV003807460
RCV003812312
RCV004006221
RCV004566622
RCV004594749
RCV004594999
RCV001249648
RCV000505211
RCV000578332
RCV001854124
RCV001798931
RCV000625970
RCV000660251
RCV000660250
RCV000660249
RCV000660247
RCV000660245
RCV000660244
RCV000677731
RCV000686752
RCV000702364
RCV000760275
RCV000790412
RCV000789047
RCV000808543
RCV000807329
RCV000990501
RCV002549278
RCV001216393
RCV001250664
RCV001251296
RCV001252610
Intellectual disability Likely pathogenic; Pathogenic rs28935171, rs1555943484, rs2067699201 RCV001257622
RCV001257663
RCV001257664
Intellectual disability, X-linked 19 Pathogenic; Likely pathogenic rs2148721944, rs1555939456, rs2148721833, rs2148649846, rs2148622591, rs2148686409, rs2148686334, rs2148643497, rs2148701796, rs2519686958, rs2519573317, rs2519725480, rs797045920, rs2519612941, rs2519732229
View all (21 more)
RCV001387622
RCV001809137
RCV001843741
RCV001976344
RCV002014963
RCV002007421
RCV001942278
RCV002250300
RCV002267697
RCV004720367
RCV003041426
RCV003041427
RCV000193195
RCV002914310
RCV003045421
RCV003029482
RCV000760245
RCV000012425
RCV003806196
RCV003815530
RCV003807460
RCV003812312
RCV000022822
RCV000022823
RCV002523411
RCV001854124
RCV000714792
RCV005223090
RCV000686752
RCV000702364
RCV000760275
RCV000808543
RCV000807329
RCV002549278
RCV001216393
RCV001253583
Nonpapillary renal cell carcinoma Pathogenic; Likely pathogenic rs2519568342, rs28935171 RCV005930773
RCV005887452
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Likely benign rs111948591 RCV005916286
Global developmental delay Conflicting classifications of pathogenicity rs1057518853 RCV000415404
Hirsutism Conflicting classifications of pathogenicity rs1040089025 RCV001007899
Lung cancer Benign rs4075126 RCV005923272
Associations from Text MiningDisease 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