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Aliases for RPS6KC1 Gene

Aliases for RPS6KC1 Gene

  • Ribosomal Protein S6 Kinase C1 2 3 5
  • Ribosomal S6 Kinase-Like Protein With Two PSK Domains 118 KDa Protein 3 4
  • 52 KDa Ribosomal Protein S6 Kinase 3 4
  • SPHK1-Binding Protein 3 4
  • S6K-Delta-1 3 4
  • RPK118 3 4
  • Ribosomal Protein S6 Kinase, 52kDa, Polypeptide 1 3
  • Ribosomal Protein S6 Kinase, 52kD, Polypeptide 1 2
  • Ribosomal Protein S6 Kinase Delta-1 3
  • EC 2.7.11.1 4
  • HumS6PKh1 3
  • S6PKh1 3
  • RSKL1 3

External Ids for RPS6KC1 Gene

Previous GeneCards Identifiers for RPS6KC1 Gene

  • GC01P212070
  • GC01P209067
  • GC01P209840
  • GC01P210281
  • GC01P209612
  • GC01P211291
  • GC01P213224
  • GC01P183899

Summaries for RPS6KC1 Gene

Entrez Gene Summary for RPS6KC1 Gene

  • Sphingosine kinase catalyzes the formation of sphingosine 1 phosphate, a lipid cellular messenger. The protein encoded by this gene can bind to sphingosine kinase and to phosphatidylinositol 3-phosphate, suggesting a role in sphingosine 1 phophate signaling. The encoded protein can also bind to peroxiredoxin-3 and may help transport it to mitochondria. [provided by RefSeq, Mar 2017]

GeneCards Summary for RPS6KC1 Gene

RPS6KC1 (Ribosomal Protein S6 Kinase C1) is a Protein Coding gene. Among its related pathways are Nanog in Mammalian ESC Pluripotency and CNTF Signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein serine/threonine kinase activity. An important paralog of this gene is RPS6KL1.

UniProtKB/Swiss-Prot for RPS6KC1 Gene

  • May be involved in transmitting sphingosine-1 phosphate (SPP)-mediated signaling into the cell.

Gene Wiki entry for RPS6KC1 Gene

Additional gene information for RPS6KC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPS6KC1 Gene

Genomics for RPS6KC1 Gene

GeneHancer (GH) Regulatory Elements for RPS6KC1 Gene

Promoters and enhancers for RPS6KC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I213050 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 589.6 +0.5 489 3.1 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 POLR2B ZNF766 CBX5 RPS6KC1 ANGEL2 PPP2R5A GC01P213058
GH01I212977 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 20.9 -71.1 -71085 5.6 HDAC1 FOXA2 SMAD1 RB1 SIN3A BMI1 BATF KLF5 IRF4 ZNF207 RPS6KC1 VASH2 BATF3 ANGEL2 TATDN3
GH01I213008 Enhancer 0.5 ENCODE 37.1 -42.5 -42479 0.2 ZNF217 PKNOX1 DPF2 NFE2 RUNX3 SPI1 RPS6KC1 VASH2 ANGEL2 GC01M213006
GH01I212949 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6 -97.9 -97947 6.6 HDGF PKNOX1 SIN3A BATF ZNF2 ZEB1 ZNF335 GLIS2 SCRT2 FOS VASH2 RPS6KC1 TATDN3 ANGEL2
GH01I212634 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 6.5 -413.9 -413860 5.7 SMAD1 ARNT FEZF1 ZNF766 FOS REST MEF2D ZNF610 SMARCA4 GLIS1 LOC105372909 ATF3 BATF3 RPS6KC1 FLVCR1-AS1 TATDN3 PPP2R5A VASH2 ENSG00000235862 LOC102723761
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RPS6KC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPS6KC1 gene promoter:

Genomic Locations for RPS6KC1 Gene

Genomic Locations for RPS6KC1 Gene
chr1:213,051,233-213,274,773
(GRCh38/hg38)
Size:
223,541 bases
Orientation:
Plus strand
chr1:213,224,588-213,448,116
(GRCh37/hg19)

Genomic View for RPS6KC1 Gene

Genes around RPS6KC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPS6KC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPS6KC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPS6KC1 Gene

Proteins for RPS6KC1 Gene

  • Protein details for RPS6KC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96S38-KS6C1_HUMAN
    Recommended name:
    Ribosomal protein S6 kinase delta-1
    Protein Accession:
    Q96S38
    Secondary Accessions:
    • B1APS8
    • B3KVM4
    • D3DTA4
    • Q8TDD3
    • Q9NSF4
    • Q9UL66

    Protein attributes for RPS6KC1 Gene

    Size:
    1066 amino acids
    Molecular mass:
    118682 Da
    Quaternary structure:
    • Interacts with SPHK1 and phosphatidylinositol 3-phosphate.
    SequenceCaution:
    • Sequence=CAB92850.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RPS6KC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPS6KC1 Gene

Post-translational modifications for RPS6KC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RPS6KC1 Gene

Domains & Families for RPS6KC1 Gene

Gene Families for RPS6KC1 Gene

Suggested Antigen Peptide Sequences for RPS6KC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96S38

UniProtKB/Swiss-Prot:

KS6C1_HUMAN :
  • The first protein kinase domain appears to be a pseudokinase domain as it does not contain the classical characteristics, such as the ATP-binding motif, ATP-binding site and active site.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. S6 kinase subfamily.
Domain:
  • The first protein kinase domain appears to be a pseudokinase domain as it does not contain the classical characteristics, such as the ATP-binding motif, ATP-binding site and active site.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. S6 kinase subfamily.
genes like me logo Genes that share domains with RPS6KC1: view

Function for RPS6KC1 Gene

Molecular function for RPS6KC1 Gene

GENATLAS Biochemistry:
ribosomal protein S6 kinase,polypeptide 1,expressed highly in testis,skeletal muscle,brain and pancreas,not involved in vivo in the phosphorylation of RPS6,mediating protein synthesis initiation and elongation induced by hormones or growth factors,maybe playing an essentilal regulatory role in protein synthesis during cell proliferation
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
May be involved in transmitting sphingosine-1 phosphate (SPP)-mediated signaling into the cell.

Enzyme Numbers (IUBMB) for RPS6KC1 Gene

Phenotypes From GWAS Catalog for RPS6KC1 Gene

Gene Ontology (GO) - Molecular Function for RPS6KC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity TAS,IEA --
GO:0005515 protein binding IPI 15750338
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with RPS6KC1: view
genes like me logo Genes that share phenotypes with RPS6KC1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RPS6KC1

miRNA for RPS6KC1 Gene

miRTarBase miRNAs that target RPS6KC1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RPS6KC1 Gene

Localization for RPS6KC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPS6KC1 Gene

Cytoplasm. Membrane. Note=Also found in some small dot-like or ring-shaped early endosome structures.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPS6KC1 gene
Compartment Confidence
endosome 5
cytosol 4
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Endosomes (4)
  • Lysosomes (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPS6KC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005769 early endosome IDA 15750338
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RPS6KC1: view

Pathways & Interactions for RPS6KC1 Gene

genes like me logo Genes that share pathways with RPS6KC1: view

Pathways by source for RPS6KC1 Gene

2 Qiagen pathways for RPS6KC1 Gene

Gene Ontology (GO) - Biological Process for RPS6KC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction TAS 10552933
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with RPS6KC1: view

No data available for SIGNOR curated interactions for RPS6KC1 Gene

Drugs & Compounds for RPS6KC1 Gene

No Compound Related Data Available

Transcripts for RPS6KC1 Gene

Unigene Clusters for RPS6KC1 Gene

Ribosomal protein S6 kinase, 52kDa, polypeptide 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPS6KC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: - -
SP2: - - -
SP3: - -
SP4:

Relevant External Links for RPS6KC1 Gene

GeneLoc Exon Structure for
RPS6KC1
ECgene alternative splicing isoforms for
RPS6KC1

Expression for RPS6KC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPS6KC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPS6KC1 Gene

This gene is overexpressed in Adipocyte (57.5) and Monocytes (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPS6KC1 Gene



Protein tissue co-expression partners for RPS6KC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RPS6KC1 Gene:

RPS6KC1

SOURCE GeneReport for Unigene cluster for RPS6KC1 Gene:

Hs.591416

mRNA Expression by UniProt/SwissProt for RPS6KC1 Gene:

Q96S38-KS6C1_HUMAN
Tissue specificity: Highly expressed in testis, skeletal muscle, brain, heart, placenta, kidney and liver and weakly expressed in thymus, small intestine, lung and colon.

Evidence on tissue expression from TISSUES for RPS6KC1 Gene

  • Nervous system(4.7)
  • Heart(4.6)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with RPS6KC1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPS6KC1 Gene

Orthologs for RPS6KC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RPS6KC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPS6KC1 33 34
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia RPS6KC1 33 34
  • 92.75 (n)
cow
(Bos Taurus)
Mammalia RPS6KC1 33 34
  • 90.27 (n)
rat
(Rattus norvegicus)
Mammalia Rps6kc1 33
  • 80.52 (n)
oppossum
(Monodelphis domestica)
Mammalia RPS6KC1 34
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rps6kc1 33 16 34
  • 79.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RPS6KC1 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPS6KC1 33 34
  • 74.75 (n)
lizard
(Anolis carolinensis)
Reptilia RPS6KC1 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rps6kc1 33
  • 65.01 (n)
zebrafish
(Danio rerio)
Actinopterygii RPS6KC1 34
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7156 33 34
  • 44.87 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001909 33
  • 41.86 (n)
worm
(Caenorhabditis elegans)
Secernentea rskd-1 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
OneToMany
Species where no ortholog for RPS6KC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPS6KC1 Gene

ENSEMBL:
Gene Tree for RPS6KC1 (if available)
TreeFam:
Gene Tree for RPS6KC1 (if available)

Paralogs for RPS6KC1 Gene

Paralogs for RPS6KC1 Gene

(4) SIMAP similar genes for RPS6KC1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with RPS6KC1: view

Variants for RPS6KC1 Gene

Sequence variations from dbSNP and Humsavar for RPS6KC1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs193921071 uncertain-significance, Malignant tumor of prostate 213,272,596(+) T/C coding_sequence_variant, intron_variant, missense_variant
rs61751035 likely-pathogenic, Abnormality of the cerebral white matter, Delayed myelination, Global developmental delay, Hypoplasia of the corpus callosum, Muscular hypotonia, Periventricular leukomalacia 213,242,186(+) G/A coding_sequence_variant, missense_variant
VAR_040652 A lung neuroendocrine carcinoma sample p.Leu554Ile
VAR_040654 An ovarian mucinous carcinoma sample p.Gly663Ala
VAR_040656 A lung adenocarcinoma sample p.Cys1003Tyr

Structural Variations from Database of Genomic Variants (DGV) for RPS6KC1 Gene

Variant ID Type Subtype PubMed ID
dgv573n100 CNV gain 25217958
esv1004277 CNV gain 20482838
esv2666633 CNV deletion 23128226
esv2671923 CNV deletion 23128226
esv2675698 CNV deletion 23128226
esv275574 CNV gain+loss 21479260
esv28931 CNV loss 19812545
esv3546288 CNV deletion 23714750
esv3588764 CNV loss 21293372
esv3588765 CNV loss 21293372
nsv4476 CNV insertion 18451855
nsv508692 CNV deletion 20534489
nsv508693 CNV deletion 20534489
nsv549178 CNV loss 21841781
nsv826598 CNV loss 20364138

Variation tolerance for RPS6KC1 Gene

Residual Variation Intolerance Score: 20.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.32; 62.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPS6KC1 Gene

Human Gene Mutation Database (HGMD)
RPS6KC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPS6KC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPS6KC1 Gene

Disorders for RPS6KC1 Gene

Additional Disease Information for RPS6KC1

No disorders were found for RPS6KC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RPS6KC1 Gene

Publications for RPS6KC1 Gene

  1. Cloning, characterization, and chromosome mapping of RPS6KC1, a novel putative member of the ribosome protein S6 kinase family, to chromosome 12q12-q13.1. (PMID: 10552933) Zhang H … Zhao S (Genomics 1999) 2 3 4 58
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Identification and characterization of RPK118, a novel sphingosine kinase-1-binding protein. (PMID: 12077123) Hayashi S … Nakamura S (The Journal of biological chemistry 2002) 3 4 58

Products for RPS6KC1 Gene

Sources for RPS6KC1 Gene

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