RPS6KA3 - ribosomal protein S6 kinase A3 Gene

Homo sapiens

Also known as CLS; RSK; HU-3; RSK2; MRX19; ISPK-1; XLID19; p90-RSK2; pp90RSK2; MAPKAPK1B; S6K-alpha3

Gene ID: 6197 | Gene type: protein coding

About RPS6KA3

Cytogenetic location: Xp22.12 Genomic coordinates (GRCh38): X:20,149,911-20,267,097 (from NCBI)

This gene has 16 transcripts (splice variants), 252 orthologues, 7 paralogues and is associated with 8 phenotypes. Ubiquitous expression in appendix (RPKM 16.2), colon (RPKM 16.0) and 25 other tissues.

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) 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 Products(17)

mRNA	Protein	Name
XM_011545555.2	XP_011543857.1	ribosomal protein S6 kinase alpha-3 isoform X1
XM_017029718.3	XP_016885207.1	ribosomal protein S6 kinase alpha-3 isoform X10
XM_005274577.4	XP_005274634.1	ribosomal protein S6 kinase alpha-3 isoform X12
XM_047442334.1	XP_047298290.1	ribosomal protein S6 kinase alpha-3 isoform X8
XM_017029717.3	XP_016885206.1	ribosomal protein S6 kinase alpha-3 isoform X8
NM_004586.3	NP_004577.1	ribosomal protein S6 kinase alpha-3
XM_011545561.3	XP_011543863.1	ribosomal protein S6 kinase alpha-3 isoform X6
XM_017029719.3	XP_016885208.1	ribosomal protein S6 kinase alpha-3 isoform X11
XM_047442332.1	XP_047298288.1	ribosomal protein S6 kinase alpha-3 isoform X3
XM_011545557.3	XP_011543859.1	ribosomal protein S6 kinase alpha-3 isoform X6
XM_011545560.2	XP_011543862.1	ribosomal protein S6 kinase alpha-3 isoform X6
XM_005274573.3	XP_005274630.1	ribosomal protein S6 kinase alpha-3 isoform X4
XM_047442336.1	XP_047298292.1	ribosomal protein S6 kinase alpha-3 isoform X11
XM_011545562.3	XP_011543864.1	ribosomal protein S6 kinase alpha-3 isoform X7
XM_011545556.2	XP_011543858.1	ribosomal protein S6 kinase alpha-3 isoform X2
XM_047442333.1	XP_047298289.1	ribosomal protein S6 kinase alpha-3 isoform X5
XM_047442335.1	XP_047298291.1	ribosomal protein S6 kinase alpha-3 isoform X9

RPS6KA3 Protein Structure

Pkinase

Pkinase_C

Pkinase

0
200
400
600
740 a.a.

Protein Preferred Names

Protein Names

ribosomal protein S6 kinase alpha-3

MAP kinase-activated protein kinase 1b	MAPK-activated protein kinase 1b
MAPKAP kinase 1b	MAPKAPK-1b
RSK-2	S6K-alpha-3
epididymis secretory sperm binding protein	insulin-stimulated protein kinase 1
p90-RSK 3	ribosomal S6 kinase 2
ribosomal protein S6 kinase, 90kDa, polypeptide 3

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked 19

XLID19	Mrx19
Mrx31

Chromosome 16p13.3 Deletion Syndrome, Proximal

Rubinstein-Taybi Syndrome	Broad Thumb-Hallux Syndrome
Chromosome 16p13.3 Deletion Syndrome	Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion
Rubinstein Syndrome	Broad Thumbs-Halluces Syndrome
Rsts	Rubinstein-Taybi Deletion Syndrome
Rsts Deletion Syndrome	Proximal Chromosome 16p13.3 Deletion Syndrome
16p13.3 Deletion Syndrome	Broad Thumbs And Great Toes, Characteristic Facies, And Mental Retardation
Rts

Hypertelorism

Eyes Wide Apart	Eyes Widely Set
Hypertelorism Of Orbit	Ocular Hypertelorism
Orbital Separation Excessive

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Ventricular Septal Defect

Ventricular Septal Defects	Interventricular Septal Defect
Heart Septal Defects, Ventricular	Ventricular Septal Abnormality
Interventricular Septum Defect	Ventricular Septum Defect
Vsd - [Ventricular Septum Defect]	Congenital Ventricular Septal Defect
Single Ventricular Septal Defect

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers

Non-Syndromic X-Linked Intellectual Disability 73

Mrx73

X-Linked Mental Retardation 73

Coffin-Lowry Syndrome

CLS	Mental Retardation With Osteocartilaginous Abnormalities
Coffin Syndrome 1	Coffin Syndrome
Dwarfism, Lean Spastic Type	Lean Spastic Dwarfism
Coffin Lowry Syndrome

Non-Syndromic X-Linked Intellectual Disability 19

Mrx19

Orthostatic Intolerance

Mitral Valve Prolapse	Neurocirculatory Asthenia
Mitral Valve Prolapse Syndrome	Irritable Heart
Systolic Click-Murmur Syndrome	Soldiers Heart
Cardiovascular Malfunction Arising From Mental Factors	Cardiovascular Neurosis
Da Costa'S Syndrome	Krishaber'S Disease
Barlow'S Syndrome	Floppy Mitral Valve
Mitral Leaflet Syndrome	Myxomatous Mitral Valve Prolapse
Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency	Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency
Orthostatic Intolerance Due To Net Deficiency	Pots Due To Net Deficiency
OI	Intolerance, Orthostatic
Mitral Valve Prolapse, Familial, X-Linked	Ballooning Mitral Valve
Barlow Syndrome	Flail Mitral Leaflet
Myxomatous Mitral Valve	Mitral Valve Prolapse-Click Syndrome
Prolapsing Mitral Valve Leaflet Syndrome	Billowing Mitral Valve Leaflet
Posterior Mitral Leaflet Deformity	Ballooning Posterior Leaflet Syndrome
Blue Valve Syndrome	Floppy Mitral Valve Syndrome
Mitral Valvular Prolapse	Systolic Click Syndrome

Hypotonia

Specific Learning Disability

Specific Learning Difficulty

Specific Learning Disorder

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hlah	Hfe
Hemochromatosis, Hereditary	Diabetes Bronze
Classic Hemochromatosis	Hfe-Associated Hereditary Hemochromatosis
Hemochromatosis Classic	Bronzed Cirrhosis
Familial Hemochromatosis	Genetic Hemochromatosis
Hc	Hereditary Haemochromatosis
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Gastroesophageal Reflux

Gastroesophageal Reflux Disease	Gerd
GER	Gastroesophageal Reflux, Pediatric
Acid Reflux	Gastresophageal Reflux
Gastro-Esophageal Reflux	Gerd - Gastro-Esophageal Reflux Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-148061	DB1113		99.28%	Unkown
HY-150643	RSK2-IN-2	Inhibitor	/	Unkown
HY-150717	RSK2-IN-3	Inhibitor	/	Unkown
HY-RS12254	RPS6KA3 Human Pre-designed siRNA Set A		/	Unkown
HY-RS12255	Rps6ka3 Mouse Pre-designed siRNA Set A		/	Unkown
HY-RS12256	Rps6ka3 Rat Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RPS6KA3	RGD	RGD:1563860
Mus musculus	RPS6KA3	MGD	MGI:104557
Canis familiaris	RPS6KA3	VGNC	VGNC:45740
Bos taurus	RPS6KA3	VGNC	VGNC:34142
Macaca mulatta	RPS6KA3	VGNC	VGNC:76929
Felis catus	RPS6KA3	VGNC	VGNC:64756
Others	RPS6KA3	NCBI

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