RPS6KB1 ribosomal protein S6 kinase B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPS6KB1provided by HGNC
Official Full Name: ribosomal protein S6 kinase B1provided by HGNC
Primary source: HGNC:HGNC:10436
See related: Ensembl:ENSG00000108443 MIM:608938
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: S6K; PS6K; S6K1; STK14A; p70-S6K; p70 S6KA; p70-alpha; S6K-beta-1; p70(S6K)-alpha
Summary: This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013]
Expression: Ubiquitous expression in esophagus (RPKM 6.9), thyroid (RPKM 6.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q23.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
109.20201120	current	GRCh38.p13 (GCF_000001405.39)	17	NC_000017.11 (59893121..59950574)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (57970407..58027787)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibition of p70 isoforms of S6K1 induces anoikis to prevent transformed human hepatocyte growth.
Title: Inhibition of p70 isoforms of S6K1 induces anoikis to prevent transformed human hepatocyte growth.
Benzoxazole Derivative K313 Induces Cell Cycle Arrest, Apoptosis and Autophagy Blockage and Suppresses mTOR/p70S6K Pathway in Nalm-6 and Daudi Cells.
Title: Benzoxazole Derivative K313 Induces Cell Cycle Arrest, Apoptosis and Autophagy Blockage and Suppresses mTOR/p70S6K Pathway in Nalm-6 and Daudi Cells.
Predicting Radiation Resistance in Breast Cancer with Expression Status of Phosphorylated S6K1.
Title: Predicting Radiation Resistance in Breast Cancer with Expression Status of Phosphorylated S6K1.
The association of aberrant expression of NLRP3 and p-S6K1 in colorectal cancer.
Title: The association of aberrant expression of NLRP3 and p-S6K1 in colorectal cancer.
Regulation of Mumps Virus Replication and Transcription by Kinase RPS6KB1.
Title: Regulation of Mumps Virus Replication and Transcription by Kinase RPS6KB1.
Distinct Roles of mTOR Targets S6K1 and S6K2 in Breast Cancer.
Title: Distinct Roles of mTOR Targets S6K1 and S6K2 in Breast Cancer.
Circular RNA hsa_circ_0006168 contributes to cell proliferation, migration and invasion in esophageal cancer by regulating miR-384/RBBP7 axis via activation of S6K/S6 pathway.
Title: Circular RNA hsa_circ_0006168 contributes to cell proliferation, migration and invasion in esophageal cancer by regulating miR-384/RBBP7 axis via activation of S6K/S6 pathway.
Ginsenoside CK induces apoptosis and suppresses proliferation and invasion of human osteosarcoma cells through the PI3K/mTOR/p70S6K1 pathway.
Title: Ginsenoside CK induces apoptosis and suppresses proliferation and invasion of human osteosarcoma cells through the PI3K/mTOR/p70S6K1 pathway.
Direct imaging of the recruitment and phosphorylation of S6K1 in the mTORC1 pathway in living cells.
Title: Direct imaging of the recruitment and phosphorylation of S6K1 in the mTORC1 pathway in living cells.
Non-canonical Raf-1/p70S6K signalling in non-small-cell lung cancer.
Title: Non-canonical Raf-1/p70S6K signalling in non-small-cell lung cancer.

Submit: New GeneRIF Correction See all GeneRIFs (254)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	Secretion of IL-10 is upregulated by HIV-1 gp41 in monocytes through activation of cAMP/adenylate cyclase and p70 (S6)-kinase; up-regulation of IL-10 is paralleled by an enhanced expression of the chemokine receptor CCR5	PubMed
Tat	tat	HIV-1 Tat-peptide(48-60) inhibits AGC-family kinases (PKB, SGK1, S6K1, MSK1), CAMK-family kinases (CAMK1 and MELK) and a STE family kinase (MKK1)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1604 (e-PCR)
- UniSTS:39009

RH69849 (e-PCR)
- UniSTS:15737

G42204 (e-PCR)
- UniSTS:93307

WI-17810 (e-PCR)
- UniSTS:20107

MARC_10535-10536:1000147856:1 (e-PCR)
- UniSTS:267161

D17S1554 (e-PCR)
- UniSTS:61668

D17S1994 (e-PCR)
- UniSTS:6637

Homology

Homologs of the RPS6KB1 gene: The RPS6KB1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 333 organisms have orthologs with human gene RPS6KB1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
PDZ domain binding	IEA Inferred from Electronic Annotation more info
identical protein binding	IEA Inferred from Electronic Annotation more info
kinase activity	TAS Traceable Author Statement more info
peptide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
protein phosphatase 2A binding	IEA Inferred from Electronic Annotation more info
protein serine kinase activity	IEA Inferred from Electronic Annotation more info
protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein serine/threonine/tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
protein threonine kinase activity	IEA Inferred from Electronic Annotation more info
ribosomal protein S6 kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
TOR signaling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
TOR signaling	IDA Inferred from Direct Assay more info	PubMed
TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
aging	IEA Inferred from Electronic Annotation more info
apoptotic process	IEA Inferred from Electronic Annotation more info
behavioral fear response	IEA Inferred from Electronic Annotation more info
cell migration	IEA Inferred from Electronic Annotation more info
cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
cellular response to growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
cellular response to insulin stimulus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cellular response to interferon-gamma	IEA Inferred from Electronic Annotation more info
germ cell development	IEA Inferred from Electronic Annotation more info
long-chain fatty acid import into cell	ISS Inferred from Sequence or Structural Similarity more info
long-term memory	IEA Inferred from Electronic Annotation more info
negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of extrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
negative regulation of insulin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
peptidyl-serine phosphorylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
phosphatidylinositol-mediated signaling	TAS Traceable Author Statement more info	PubMed
positive regulation of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of skeletal muscle tissue growth	IEA Inferred from Electronic Annotation more info
positive regulation of smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
positive regulation of smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of translation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of translational initiation	IMP Inferred from Mutant Phenotype more info	PubMed
protein kinase B signaling	IEA Inferred from Electronic Annotation more info
regulation of glucose import	IEA Inferred from Electronic Annotation more info
response to drug	IEA Inferred from Electronic Annotation more info
response to electrical stimulus involved in regulation of muscle adaptation	IEA Inferred from Electronic Annotation more info
response to ethanol	IEA Inferred from Electronic Annotation more info
response to glucagon	IEA Inferred from Electronic Annotation more info
response to glucose	IEA Inferred from Electronic Annotation more info
response to heat	IEA Inferred from Electronic Annotation more info
response to leucine	IEA Inferred from Electronic Annotation more info
response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
response to nutrient	IEA Inferred from Electronic Annotation more info
response to nutrient levels	IDA Inferred from Direct Assay more info	PubMed
response to testosterone	IEA Inferred from Electronic Annotation more info
response to toxic substance	IEA Inferred from Electronic Annotation more info
response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
response to wounding	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed
skeletal muscle atrophy	IEA Inferred from Electronic Annotation more info
skeletal muscle contraction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cell surface	IEA Inferred from Electronic Annotation more info
cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cytosol	TAS Traceable Author Statement more info
mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
neuron projection	IEA Inferred from Electronic Annotation more info
nucleoplasm	IDA Inferred from Direct Assay more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ribosomal protein S6 kinase beta-1

Names: ribosomal protein S6 kinase I; ribosomal protein S6 kinase, 70kDa, polypeptide 1; serine/threonine kinase 14 alpha; serine/threonine-protein kinase 14A

NP_001258971.1

EC 2.7.11.1

NP_001258972.1

EC 2.7.11.1

NP_001258973.1

EC 2.7.11.1

NP_001258989.1

EC 2.7.11.1

NP_001356598.1

EC 2.7.11.1

NP_001356599.1

EC 2.7.11.1

NP_001356600.1

EC 2.7.11.1

NP_001356601.1

EC 2.7.11.1

NP_001356602.1

EC 2.7.11.1

NP_001356603.1

EC 2.7.11.1

NP_001356604.1

EC 2.7.11.1

NP_001356605.1

EC 2.7.11.1

NP_001356606.1

EC 2.7.11.1

NP_001356607.1

EC 2.7.11.1

NP_001356608.1

EC 2.7.11.1

NP_003152.1

EC 2.7.11.1

XP_011523404.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029513.1 RefSeqGene

Range

5040..62493

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001272042.2 → NP_001258971.1 ribosomal protein S6 kinase beta-1 isoform b

See identical proteins and their annotated locations for NP_001258971.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. This variant can initiate translation from two alternate in-frame AUG start codons. The isoform represented in this RefSeq (b) is derived from the first AUG start codon, and is shorter than isoform a.

Source sequence(s)

AC004686, AK297147, AK300202, BP359158, CA444907

Consensus CDS

CCDS62272.1

UniProtKB/Swiss-Prot

P23443

Related

ENSP00000441993.1, ENST00000443572.6

Conserved Domains (1) summary

cd05584
Location:94 → 393

STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase
NM_001272043.2 → NP_001258972.1 ribosomal protein S6 kinase beta-1 isoform c

See identical proteins and their annotated locations for NP_001258972.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. This variant can initiate translation from two alternate in-frame AUG start codons. The isoform represented in this RefSeq (c) is derived from the first AUG start codon. It has a distinct C-terminus, and is shorter than isoform a.

Source sequence(s)

AC004686, BC053365, BP359158, CA444907

Consensus CDS

CCDS62271.1

UniProtKB/Swiss-Prot

P23443

Related

ENSP00000384335.3, ENST00000406116.7

Conserved Domains (1) summary

cd05584
Location:94 → 416

STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase
NM_001272044.2 → NP_001258973.1 ribosomal protein S6 kinase beta-1 isoform d

See identical proteins and their annotated locations for NP_001258973.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate exon in the 5' region, and initiates translation at the third in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AC004686, AK297147, BP359158, CA444907

Consensus CDS

CCDS62273.1

UniProtKB/Swiss-Prot

P23443

Related

ENSP00000376744.3, ENST00000393021.7

Conserved Domains (1) summary

cd05584
Location:41 → 363

STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase
NM_001272060.2 → NP_001258989.1 ribosomal protein S6 kinase beta-1 isoform e

See identical proteins and their annotated locations for NP_001258989.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) can initiate translation from two alternate in-frame AUG start codons. The isoform represented in this RefSeq (e, also known as p70 or alpha II) is derived from the second AUG start codon, and is shorter at the N-terminus, compared to isoform a.

Source sequence(s)

AC004686, AK297147, AK312875, BP359158, CA444907

UniProtKB/Swiss-Prot

P23443

Conserved Domains (2) summary

smart00220
Location:68 → 329

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd05584
Location:71 → 393

STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase
NM_001369669.1 → NP_001356598.1 ribosomal protein S6 kinase beta-1 isoform f

Status: REVIEWED

Source sequence(s)

AC004686

Conserved Domains (1) summary

cd05584
Location:94 → 380

STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase
NM_001369670.1 → NP_001356599.1 ribosomal protein S6 kinase beta-1 isoform g

Status: REVIEWED

Source sequence(s)

AC004686

Conserved Domains (1) summary

cd05584
Location:41 → 342

STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase
NM_001369671.1 → NP_001356600.1 ribosomal protein S6 kinase beta-1 isoform h

Status: REVIEWED

Source sequence(s)

AC004686

Conserved Domains (1) summary

cd05584
Location:48 → 336

STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase
NM_001369672.1 → NP_001356601.1 ribosomal protein S6 kinase beta-1 isoform i

Status: REVIEWED

Source sequence(s)

AC004686

Conserved Domains (1) summary

cd05584
Location:41 → 327

STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase
NM_001369673.1 → NP_001356602.1 ribosomal protein S6 kinase beta-1 isoform j

Status: REVIEWED

Source sequence(s)

AC004686

Conserved Domains (1) summary

cl21453
Location:41 → 142

PKc_like; Protein Kinases, catalytic domain
NM_001369674.1 → NP_001356603.1 ribosomal protein S6 kinase beta-1 isoform k

Status: REVIEWED

Description

Transcript Variant: This variant (10), as well as variant 11, encodes isoform k.

Source sequence(s)

AC004686

Conserved Domains (1) summary

cl21453
Location:94 → 210

PKc_like; Protein Kinases, catalytic domain
NM_001369675.1 → NP_001356604.1 ribosomal protein S6 kinase beta-1 isoform k

Status: REVIEWED

Description

Transcript Variant: This variant (11), as well as variant 10, encodes isoform k.

Source sequence(s)

AC004686

Conserved Domains (1) summary

cl21453
Location:94 → 210

PKc_like; Protein Kinases, catalytic domain
NM_001369676.1 → NP_001356605.1 ribosomal protein S6 kinase beta-1 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (12), as well as variants 13-15, encodes isoform l.

Source sequence(s)

AC004686

Conserved Domains (1) summary

cl21453
Location:94 → 195

PKc_like; Protein Kinases, catalytic domain
NM_001369677.1 → NP_001356606.1 ribosomal protein S6 kinase beta-1 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (13), as well as variants 12, 14, and 15, encodes isoform l.

Source sequence(s)

AC004686

Conserved Domains (1) summary

cl21453
Location:94 → 195

PKc_like; Protein Kinases, catalytic domain
NM_001369678.1 → NP_001356607.1 ribosomal protein S6 kinase beta-1 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (14), as well as variants 12, 13, and 15, encodes isoform l.

Source sequence(s)

AC004686

Conserved Domains (1) summary

cl21453
Location:94 → 195

PKc_like; Protein Kinases, catalytic domain
NM_001369679.1 → NP_001356608.1 ribosomal protein S6 kinase beta-1 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (15), as well as variants 12-14, encodes isoform l.

Source sequence(s)

AC004686

Conserved Domains (1) summary

cl21453
Location:94 → 195

PKc_like; Protein Kinases, catalytic domain
NM_003161.4 → NP_003152.1 ribosomal protein S6 kinase beta-1 isoform a

See identical proteins and their annotated locations for NP_003152.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) can initiate translation from two alternate in-frame AUG start codons. The isoform represented in this RefSeq (a, also known as p85 or alpha I) is derived from the first AUG start codon, and is the longest isoform.

Source sequence(s)

AC004686, AK297147, AK312875, BP359158, CA444907

Consensus CDS

CCDS11621.1

UniProtKB/Swiss-Prot

P23443

Related

ENSP00000225577.4, ENST00000225577.9

Conserved Domains (1) summary

cd05584
Location:94 → 416

STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase

RNA

NR_161455.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004686
NR_161456.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004686
NR_161457.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004686
NR_161458.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004686
NR_161459.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004686
NR_161460.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004686
NR_161461.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004686
NR_161462.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004686

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p13 Primary Assembly

Range

59893121..59950574

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011525102.3 → XP_011523404.1 ribosomal protein S6 kinase beta-1 isoform X3

Conserved Domains (2) summary

smart00220
Location:91 → 352

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd05584
Location:94 → 378

STKc_p70S6K; Catalytic domain of the Serine/Threonine Kinase, 70 kDa ribosomal protein S6 kinase