• Gene id: 8986

Gene Summary

• Gene Symbol: RPS6KA4   Gene   UCSC   Ensembl
• Aliases: MSK2, RSK-B, S6K-alpha-4
• Gene name: ribosomal protein S6 kinase A4
• Alternate names: ribosomal protein S6 kinase alpha-4, 90 kDa ribosomal protein S6 kinase 4, mitogen- and stress-activated protein kinase 2, nuclear mitogen- and stress-activated protein kinase 2, ribosomal protein S6 kinase, 90kDa, polypeptide 4, ribosomal protein kinase B,
• Gene location: 11q13.1 (64359161: 64372214)     Exons: 17     NC_000011.10
• Gene summary(Entrez): 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 CREB1 and ATF1. The encoded protein can also pho

SNPs

rs757326350

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.18688215T>A
NC_000012.12   g.18688215T>C
NC_000012.11   g.18841149T>A
NC_000012.11   g.18841149T>C
NG_050635.1   g.450251T>A
NG_050635.1   g.450251T>C
NG_052826.1   g.54845A>T
NG_052826.1   g.54845A>G
NM_033123.4   c.1465A>T
NM_033123.4   c.1465A>G
NM_0  

Protein Summary

• Protein general information: O75676  
  • Name: Ribosomal protein S6 kinase alpha 4 (S6K alpha 4) (EC 2.7.11.1) (90 kDa ribosomal protein S6 kinase 4) (Nuclear mitogen and stress activated protein kinase 2) (Ribosomal protein kinase B) (RSKB)
  • Length: 772  
  • Mass: 85606
• Sequence:

  MGDEDDDESCAVELRITEANLTGHEEKVSVENFELLKVLGTGAYGKVFLVRKAGGHDAGKLYAMKVLRKAALVQR
  AKTQEHTRTERSVLELVRQAPFLVTLHYAFQTDAKLHLILDYVSGGEMFTHLYQRQYFKEAEVRVYGGEIVLALE
  HLHKLGIIYRDLKLENVLLDSEGHIVLTDFGLSKEFLTEEKERTFSFCGTIEYMAPEIIRSKTGHGKAVDWWSLG
  ILLFELLTGASPFTLEGERNTQAEVSRRILKCSPPFPPRIGPVAQDLLQRLLCKDPKKRLGAGPQGAQEVRNHPF
  FQGLDWVALAARKIPAPFRPQIRSELDVGNFAEEFTRLEPVYSPPGSPPPGDPRIFQGYSFVAPSILFDHNNAVM
  TDGLEAPGAGDRPGRAAVARSAMMQDSPFFQQYELDLREPALGQGSFSVCRRCRQRQSGQEFAVKILSRRLEANT
  QREVAALRLCQSHPNVVNLHEVHHDQLHTYLVLELLRGGELLEHIRKKRHFSESEASQILRSLVSAVSFMHEEAG
  VVHRDLKPENILYADDTPGAPVKIIDFGFARLRPQSPGVPMQTPCFTLQYAAPELLAQQGYDESCDLWSLGVILY
  MMLSGQVPFQGASGQGGQSQAAEIMCKIREGRFSLDGEAWQGVSEEAKELVRGLLTVDPAKRLKLEGLRGSSWLQ
  DGSARSSPPLRTPDVLESSGPAVRSGLNATFMAFNRGKREGFFLKSVENAPLAKRRKQKLRSATASRRGSPAPAN
  PGRAPVASKGAPRRANGPLPPS

• Structural information:
  • Protein Domains: (33..30-)
    1 (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (302..37-)
    (/note="AGC-kinase-C-terminal)
    (411..67-)
    2 (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR000961  IPR011009  IPR037714  IPR017892  IPR000719   IPR017441  IPR016239  IPR008271  
  • Prosite: PS51285 PS00107 PS50011 PS00108
  • CDD: cd05614
  • STRING: ENSP00000333896
• Other Databases: GeneCards:  RPS6KA4  Malacards:  RPS6KA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0006468	protein phosphorylation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0051092	positive regulation of NF-kappaB transcription factor activity	TAS	biological process
GO:0043988	histone H3-S28 phosphorylation	IMP	biological process
GO:0043987	histone H3-S10 phosphorylation	IMP	biological process
GO:0032793	positive regulation of CREB transcription factor activity	TAS	biological process
GO:0001818	negative regulation of cytokine production	TAS	biological process
GO:0004674	protein serine/threonine kinase activity	IMP	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016572	histone phosphorylation	TAS	biological process
GO:0033129	positive regulation of histone phosphorylation	IMP	biological process
GO:0035066	positive regulation of histone acetylation	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0070498	interleukin-1-mediated signaling pathway	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006468	protein phosphorylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0035556	intracellular signal transduction	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004711	ribosomal protein S6 kinase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04668	TNF signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray