RPS6KA1 ribosomal protein S6 kinase A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPS6KA1provided by HGNC
Official Full Name: ribosomal protein S6 kinase A1provided by HGNC
Primary source: HGNC:HGNC:10430
See related: Ensembl:ENSG00000117676 MIM:601684; AllianceGenome:HGNC:10430
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: RSK; HU-1; RSK1; p90Rsk; MAPKAPK1; MAPKAPK1A
Summary: This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical 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. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Expression: Broad expression in small intestine (RPKM 31.6), duodenum (RPKM 29.3) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.11

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (26529761..26575025)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (26367713..26412979)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (26856252..26901516)

Chromosome 1 - NC_000001.11 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?

The ribosomal protein S6 kinase alpha-1 (RPS6KA1) induces resistance to venetoclax/azacitidine in acute myeloid leukemia.
Title: The ribosomal protein S6 kinase alpha-1 (RPS6KA1) induces resistance to venetoclax/azacitidine in acute myeloid leukemia.
Comprehensive analysis of the RSK gene family in acute myeloid leukemia determines a prognostic signature for the prediction of clinical prognosis and treatment responses.
Title: Comprehensive analysis of the RSK gene family in acute myeloid leukemia determines a prognostic signature for the prediction of clinical prognosis and treatment responses.
Associations of the Methylation Levels of NFAT5, PVT1, RPS6KA1, and MIB1 with Steroid-Resistant Asthma.
Title: Associations of the Methylation Levels of NFAT5, PVT1, RPS6KA1, and MIB1 with Steroid-Resistant Asthma.
Oncogenic KRAS engages an RSK1/NF1 pathway to inhibit wild-type RAS signaling in pancreatic cancer.
Title: Oncogenic KRAS engages an RSK1/NF1 pathway to inhibit wild-type RAS signaling in pancreatic cancer.
The Preeclamptic Environment Promotes the Activation of Transcription Factor Kappa B by P53/RSK1 Complex in a HTR8/SVneo Trophoblastic Cell Line.
Title: The Preeclamptic Environment Promotes the Activation of Transcription Factor Kappa B by P53/RSK1 Complex in a HTR8/SVneo Trophoblastic Cell Line.
MAP Kinase-Mediated Activation of RSK1 and MK2 Substrate Kinases.
Title: MAP Kinase-Mediated Activation of RSK1 and MK2 Substrate Kinases.
Pathway-Affecting Single Nucleotide Polymorphisms (SNPs) in RPS6KA1 and MBIP Genes are Associated with Breast Cancer Risk.
Title: Pathway-Affecting Single Nucleotide Polymorphisms (SNPs) in RPS6KA1 and MBIP Genes are Associated with Breast Cancer Risk.
Oxidative Stress Orchestrates MAPK and Nitric-Oxide Synthase Signal.
Title: Oxidative Stress Orchestrates MAPK and Nitric-Oxide Synthase Signal.
Aberrant expression of RSK1 characterizes high-grade gliomas with immune infiltration.
Title: Aberrant expression of RSK1 characterizes high-grade gliomas with immune infiltration.
Proteomic Analysis Reveals a Role for RSK in p120-catenin Phosphorylation and Melanoma Cell-Cell Adhesion.
Title: Proteomic Analysis Reveals a Role for RSK in p120-catenin Phosphorylation and Melanoma Cell-Cell Adhesion.

Submit: New GeneRIF Correction See all GeneRIFs (84)

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

EBI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-153325 (e-PCR)
- UniSTS:177677

SHGC-155194 (e-PCR)
- UniSTS:182063

SHGC-74446 (e-PCR)
- UniSTS:81238

G34845 (e-PCR)
- UniSTS:18551

RH70250 (e-PCR)
- UniSTS:78250

RPS6KA1_8600 (e-PCR)
- UniSTS:468658

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	TAS Traceable Author Statement more info
enables protein serine/threonine/tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables ribosomal protein S6 kinase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info
involved_in hepatocyte proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-serine phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cell growth	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of hepatic stellate cell activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of translation in response to stress	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ribosomal protein S6 kinase alpha-1

Names: 90 kDa ribosomal protein S6 kinase 1; MAP kinase-activated protein kinase 1a; MAPK-activated protein kinase 1a; MAPKAP kinase 1a; MAPKAPK-1a; RSK-1; S6K-alpha 1; dJ590P13.1 (ribosomal protein S6 kinase, 90kD, polypeptide 1); p90-RSK 1; p90RSK1; p90S6K; ribosomal S6 kinase 1; ribosomal protein S6 kinase, 90kDa, polypeptide 1

NP_001006666.1

EC 2.7.11.1

NP_001317370.1

EC 2.7.11.1

NP_002944.2

EC 2.7.11.1

XP_024304639.1

EC 2.7.11.1

XP_047283214.1

EC 2.7.11.1

XP_054187513.1

EC 2.7.11.1

XP_054187514.1

EC 2.7.11.1

XP_054194065.1

EC 2.7.11.1

XP_054194066.1

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.

mRNA and Protein(s)

NM_001006665.2 → NP_001006666.1 ribosomal protein S6 kinase alpha-1 isoform b

See identical proteins and their annotated locations for NP_001006666.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' end of the coding region compared to variant 1. These differences cause translation initiation at an in-frame AUG of an alternate exon and an isoform (b) with a distinct N-terminus compared to isoform a.

Source sequence(s)

AL627313

Consensus CDS

CCDS30649.1

UniProtKB/TrEMBL

E9PGT3

Related

ENSP00000435412.1, ENST00000531382.5

Conserved Domains (4) summary

smart00220
Location:71 → 329

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd05582
Location:75 → 391

STKc_RSK_N; N-terminal catalytic domain of the Serine/Threonine Kinase, 90 kDa ribosomal protein S6 kinase

cd14175
Location:425 → 715

STKc_RSK1_C; C-terminal catalytic domain of the Serine/Threonine Kinase, Ribosomal S6 kinase 1 (also called Ribosomal protein S6 kinase alpha-1 or 90kDa ribosomal protein S6 kinase 1)

pfam00069
Location:427 → 684

Pkinase; Protein kinase domain
NM_001330441.2 → NP_001317370.1 ribosomal protein S6 kinase alpha-1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and 5' end of the coding region compared to variant 1. These differences cause translation initiation at an in-frame AUG of an alternate exon and an isoform (c) with a distinct N-terminus compared to isoform a.

Source sequence(s)

AL627313

Consensus CDS

CCDS81286.1

UniProtKB/TrEMBL

E9PGT3

Related

ENSP00000432281.1, ENST00000530003.5

Conserved Domains (2) summary

cd05582
Location:50 → 366

STKc_RSK_N; N-terminal catalytic domain of the Serine/Threonine Kinase, 90 kDa ribosomal protein S6 kinase

cd14175
Location:400 → 690

STKc_RSK1_C; C-terminal catalytic domain of the Serine/Threonine Kinase, Ribosomal S6 kinase 1 (also called Ribosomal protein S6 kinase alpha-1 or 90kDa ribosomal protein S6 kinase 1)
NM_002953.4 → NP_002944.2 ribosomal protein S6 kinase alpha-1 isoform a

See identical proteins and their annotated locations for NP_002944.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.

Source sequence(s)

AL627313

Consensus CDS

CCDS284.1

UniProtKB/Swiss-Prot

A6NGG4, A8K9K7, B2RDY8, B7Z5J0, E9PRI4, Q15418, Q5SVM5, Q5SVM8, Q5SVM9, Q96C05, Q9BQK2

UniProtKB/TrEMBL

E9PGT3

Related

ENSP00000363283.2, ENST00000374168.7

Conserved Domains (2) summary

cd05582
Location:66 → 382

STKc_RSK_N; N-terminal catalytic domain of the Serine/Threonine Kinase, 90 kDa ribosomal protein S6 kinase

cd14175
Location:416 → 706

STKc_RSK1_C; C-terminal catalytic domain of the Serine/Threonine Kinase, Ribosomal S6 kinase 1 (also called Ribosomal protein S6 kinase alpha-1 or 90kDa ribosomal protein S6 kinase 1)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

26529761..26575025

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024448871.2 → XP_024304639.1 ribosomal protein S6 kinase alpha-1 isoform X2

UniProtKB/TrEMBL

E9PGT3

Related

ENSP00000431651.1, ENST00000526792.5

Conserved Domains (2) summary

cd05582
Location:1 → 290

STKc_RSK_N; N-terminal catalytic domain of the Serine/Threonine Kinase, 90 kDa ribosomal protein S6 kinase

cd14175
Location:324 → 614

STKc_RSK1_C; C-terminal catalytic domain of the Serine/Threonine Kinase, Ribosomal S6 kinase 1 (also called Ribosomal protein S6 kinase alpha-1 or 90kDa ribosomal protein S6 kinase 1)
XM_047427258.1 → XP_047283214.1 ribosomal protein S6 kinase alpha-1 isoform X1