RPS6KA3 - ribosomal protein S6 kinase A3 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6197

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
Molecular Function GO Annotation Evidence Références Source
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process IDA
IDA: Inferred from direct assay
18402937 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10094392 GOA
Biological Process GO Annotation Evidence Références Source
involved in negative regulation of apoptotic process IDA
IDA: Inferred from direct assay
18402937 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
22065586 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RPS6KA3 Protein Structure

Pkinase

Pkinase: Protein kinase domain (68 - 327)

Pkinase_C

Pkinase_C: Protein kinase C terminal domain (351 - 388)

Pkinase

Pkinase: Protein kinase domain (422 - 679)

  • 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

RPS6KA3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
RPS6KA3 P51812 CSNK2B Homo sapiens P67870 32707033
Intra
RPS6KA3 P51812 CSNK2B Homo sapiens P67870 35271311
Intra
RPS6KA3 P51812 CSNK2B Homo sapiens P67870 31980649
Intra
RPS6KA3 P51812 CSNK2B Homo sapiens P67870
Y2H
10094392
Intra
RPS6KA3 P51812 HSP90AB1 Homo sapiens P08238 31980649
Intra
RPS6KA3 P51812 HSP90AB1 Homo sapiens P08238 22939624
Intra
RPS6KA3 P51812 MAPK1 Homo sapiens P28482 32707033
Intra
RPS6KA3 P51812 MAPK1 Homo sapiens P28482
PLA
25241761
Intra
RPS6KA3 P51812 MAPK1 Homo sapiens P28482
Y2H
21988832
Cross
RPS6KA3 P51812 yopM Yersinia enterocolitica serotype O:8/biotype 1B A1JU68 25513777
Cross: Cross-species interaction Intra: Intraspecies interaction

RPS6KA3 Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P80850 Phospho-RSK2 (Ser227) Antibody (YA156) WB, IP Human, Mouse, Rat
HY-P85356 RSK2 Antibody (YA5048) WB; IHC-P; IHC-F; FC; IF-Tissue Human, Mouse, Rat
HY-P86159 RSK2 Antibody (YA5851) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

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

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