Gene table of RPS6KA3 : ribosomal protein S6 kinase A3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with RPS6KA3	OMIM link	Number of associated genes	genes
303600	COFFIN-LOWRY SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	RPS6KA3
PS309530	MENTAL RETARDATION, NONSYNDROMIC, X-LINKED	ClinVar, OMIM, HUMSAVAR	link to OMIM	25	THOC2, HCFC1, RPS6KA3, USP9X, MID2, RAB39B, KIAA2022, ZNF81, PAK3, IQSEC2, DLG3, TSPAN7, ZDHHC15, ZNF711, KIF4A, ACSL4, BRWD3, IL1RAPL1, GDI1, SYP, ARHGEF6, ARX, DDX3X, GRIA3, FTSJ1

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Annotation of the gene RPS6KA3

Associated genes in ENSEMBL

ENSG00000177189

Associated proteins - SwissProt Accession ID

P51812

Associated PDB IDs

Cytogenetic Band

Xp22.12

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

NR3C1

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Oocyte meiosis	hsa04114	5.91
Long-term potentiation	hsa04720	6.64
Neurotrophin signaling pathway	hsa04722	5.78
Progesterone-mediated oocyte maturation	hsa04914	6.18
MAPK signaling pathway	hsa04010	4.63
mTOR signaling pathway	hsa04150	6.72

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
TRIF-mediated TLR3/TLR4 signaling	R-HSA-937061	6.47
Cellular Senescence	R-HSA-2559583	5.7
Senescence-Associated Secretory Phenotype (SASP)	R-HSA-2559582	6.77
Toll Like Receptor 2 (TLR2) Cascade	R-HSA-181438	6.51
Immune System	R-HSA-168256	2.37
Recycling pathway of L1	R-HSA-437239	7.62
Toll Like Receptor 5 (TLR5) Cascade	R-HSA-168176	6.73
RSK activation	R-HSA-444257	10.4
Post NMDA receptor activation events	R-HSA-438064	7.85
ERK/MAPK targets	R-HSA-198753	8.59
CREB phosphorylation through the activation of Ras	R-HSA-442742	8.23
Developmental Biology	R-HSA-1266738	3.48
Toll-Like Receptors Cascades	R-HSA-168898	5.91
MAPK targets/ Nuclear events mediated by MAP kinases	R-HSA-450282	8.08
Toll Like Receptor 10 (TLR10) Cascade	R-HSA-168142	6.73
Signalling by NGF	R-HSA-166520	4.23
Gastrin-CREB signalling pathway via PKC and MAPK	R-HSA-881907	4.26
Toll Like Receptor 3 (TLR3) Cascade	R-HSA-168164	6.47
Cellular responses to stress	R-HSA-2262752	4.56
CREB phosphorylation	R-HSA-199920	10.18
Nuclear Events (kinase and transcription factor activation)	R-HSA-198725	8.4
Neuronal System	R-HSA-112316	4.82
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	R-HSA-112314	5.85
Transmission across Chemical Synapses	R-HSA-112315	5.28
Toll Like Receptor TLR6:TLR2 Cascade	R-HSA-168188	6.56
L1CAM interactions	R-HSA-373760	6.19
Toll Like Receptor 4 (TLR4) Cascade	R-HSA-166016	6.11
Toll Like Receptor 7/8 (TLR7/8) Cascade	R-HSA-168181	6.68
Innate Immune System	R-HSA-168249	3.17
MAP kinase activation in TLR cascade	R-HSA-450294	7.28
MyD88-independent TLR3/TLR4 cascade	R-HSA-166166	6.47
Activation of NMDA receptor upon glutamate binding and postsynaptic events	R-HSA-442755	7.7
Activated TLR4 signalling	R-HSA-166054	6.27
NGF signalling via TRKA from the plasma membrane	R-HSA-187037	4.51
Toll Like Receptor TLR1:TLR2 Cascade	R-HSA-168179	6.51
Signaling by GPCR	R-HSA-372790	2.68
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation	R-HSA-975138	6.72
MyD88 cascade initiated on plasma membrane	R-HSA-975871	6.73
MyD88 dependent cascade initiated on endosome	R-HSA-975155	6.68
MyD88:Mal cascade initiated on plasma membrane	R-HSA-166058	6.56
Axon guidance	R-HSA-422475	3.93
Signal Transduction	R-HSA-162582	1.78
Toll Like Receptor 9 (TLR9) Cascade	R-HSA-168138	6.62

Associated GO terms for Molecular function

GO term	GO ID	GO IC
endopeptidase inhibitor activity	GO:0004866	4.6
purine ribonucleoside triphosphate binding	GO:0035639	2.22
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
enzyme inhibitor activity	GO:0004857	3.78
molecular function regulator	GO:0098772	2.51
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
kinase binding	GO:0019900	3.32
cysteine-type endopeptidase regulator activity involved in apoptotic process	GO:0043028	6.02
magnesium ion binding	GO:0000287	4.41
ribonucleoside binding	GO:0032549	2.22
ion binding	GO:0043167	1.36
protein serine/threonine kinase activity	GO:0004674	3.64
transferase activity	GO:0016740	1.95
purine nucleoside binding	GO:0001883	2.22
protein kinase activity	GO:0004672	3.27
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
endopeptidase regulator activity	GO:0061135	4.57
ATP binding	GO:0005524	2.43
kinase activity	GO:0016301	2.93
nucleotide binding	GO:0000166	1.96
enzyme regulator activity	GO:0030234	2.85
peptidase regulator activity	GO:0061134	4.37
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
peptidase inhibitor activity	GO:0030414	4.55
cysteine-type endopeptidase inhibitor activity	GO:0004869	5.71
protein kinase binding	GO:0019901	3.44
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
adenyl ribonucleotide binding	GO:0032559	2.41
cysteine-type endopeptidase inhibitor activity involved in apoptotic process	GO:0043027	6.6
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19