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Aliases for RPS17 Gene

Aliases for RPS17 Gene

  • Ribosomal Protein S17 2 3 5
  • Small Ribosomal Subunit Protein ES17 3 4
  • RPS17L 3 4
  • Ribosomal Protein S17-Like 2
  • 40S Ribosomal Protein S17 3
  • RPS17L1 3
  • RPS17L2 3
  • DBA4 3
  • S17 3

External Ids for RPS17 Gene

Previous HGNC Symbols for RPS17 Gene

  • RPS17L

Previous GeneCards Identifiers for RPS17 Gene

  • GC15M079008
  • GC15M076138
  • GC15M080395
  • GC15M080536
  • GC15M080608
  • GC15M082821
  • GC15M059476

Summaries for RPS17 Gene

Entrez Gene Summary for RPS17 Gene

  • Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]

GeneCards Summary for RPS17 Gene

RPS17 (Ribosomal Protein S17) is a Protein Coding gene. Diseases associated with RPS17 include Diamond-Blackfan Anemia 4 and Diamond-Blackfan Anemia. Among its related pathways are Viral mRNA Translation and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. GO annotations related to this gene include poly(A) RNA binding and structural constituent of ribosome.

Gene Wiki entry for RPS17 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPS17 Gene

Genomics for RPS17 Gene

Regulatory Elements for RPS17 Gene

Enhancers for RPS17 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G082146 1.4 Ensembl ENCODE dbSUPER 4 +393.5 393516 2.1 PKNOX1 ARNT SIN3A TCF12 GATA2 FOS JUNB NCOA1 ZNF592 MAFF RPS17 GC15P082150 GC15P082104
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RPS17 on UCSC Golden Path with GeneCards custom track

Promoters for RPS17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000080222 244 2201 HDGF ARID4B SIN3A GLI4 YBX1 ZNF2 ZBTB7B GLIS2 ELK1 ZNF143

Genomic Location for RPS17 Gene

Chromosome:
15
Start:
82,536,750 bp from pter
End:
82,540,564 bp from pter
Size:
3,815 bases
Orientation:
Minus strand

Genomic View for RPS17 Gene

Genes around RPS17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPS17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPS17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPS17 Gene

Proteins for RPS17 Gene

  • Protein details for RPS17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08708-RS17_HUMAN
    Recommended name:
    40S ribosomal protein S17
    Protein Accession:
    P08708
    Secondary Accessions:
    • B2R4U4
    • P0CW22

    Protein attributes for RPS17 Gene

    Size:
    135 amino acids
    Molecular mass:
    15550 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RPS17 Gene

neXtProt entry for RPS17 Gene

Post-translational modifications for RPS17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RPS17 Gene

No data available for DME Specific Peptides for RPS17 Gene

Domains & Families for RPS17 Gene

Gene Families for RPS17 Gene

Protein Domains for RPS17 Gene

Suggested Antigen Peptide Sequences for RPS17 Gene

Graphical View of Domain Structure for InterPro Entry

P08708

UniProtKB/Swiss-Prot:

RS17_HUMAN :
  • Belongs to the eukaryotic ribosomal protein eS17 family.
Family:
  • Belongs to the eukaryotic ribosomal protein eS17 family.
genes like me logo Genes that share domains with RPS17: view

Function for RPS17 Gene

Molecular function for RPS17 Gene

GENATLAS Biochemistry:
40S ribosomal protein S17,15kDa

Gene Ontology (GO) - Molecular Function for RPS17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003735 structural constituent of ribosome NAS,IEA 17647292
genes like me logo Genes that share ontologies with RPS17: view
genes like me logo Genes that share phenotypes with RPS17: view

Human Phenotype Ontology for RPS17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RPS17 Gene

Localization for RPS17 Gene

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 RPS17 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for RPS17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0005840 ribosome IEA,NAS 3240863
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with RPS17: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RPS17 Gene

Pathways & Interactions for RPS17 Gene

SuperPathways for RPS17 Gene

SuperPathway Contained pathways
1 Viral mRNA Translation
.56
2 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
3 Influenza Viral RNA Transcription and Replication
4 rRNA processing in the nucleus and cytosol
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with RPS17: view

Gene Ontology (GO) - Biological Process for RPS17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000028 ribosomal small subunit assembly IBA --
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0006364 rRNA processing TAS --
GO:0006412 translation IEA,IC 8706699
GO:0006413 translational initiation TAS --
genes like me logo Genes that share ontologies with RPS17: view

No data available for SIGNOR curated interactions for RPS17 Gene

Drugs & Compounds for RPS17 Gene

No Compound Related Data Available

Transcripts for RPS17 Gene

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPS17 Gene

No ASD Table

Relevant External Links for RPS17 Gene

GeneLoc Exon Structure for
RPS17
ECgene alternative splicing isoforms for
RPS17

Expression for RPS17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPS17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPS17 Gene

This gene is overexpressed in Pancreas (21.3), Lung (14.3), and Nasal epithelium (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPS17 Gene



Protein tissue co-expression partners for RPS17 Gene

NURSA nuclear receptor signaling pathways regulating expression of RPS17 Gene:

RPS17

Evidence on tissue expression from TISSUES for RPS17 Gene

  • Lung(4.9)
  • Pancreas(4.9)
  • Kidney(4.8)
  • Liver(4.8)
  • Skin(4.8)
  • Nervous system(4.7)
  • Eye(4.6)
  • Muscle(4.4)
  • Blood(3.9)
  • Intestine(3.8)
  • Heart(3.3)
  • Bone(3.2)
  • Spleen(3.1)
  • Bone marrow(2.8)
  • Lymph node(2.6)
  • Adrenal gland(2.4)
  • Stomach(2.4)
  • Thyroid gland(2.1)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPS17 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • pelvis
  • penis
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RPS17: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RPS17 Gene

Orthologs for RPS17 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPS17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 35
  • 100 (a)
OneToMany
RPS17 34
  • 96.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 99 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 91 (a)
OneToMany
RPS17 34
  • 89.14 (n)
cow
(Bos Taurus)
Mammalia RPS17 34 35
  • 90.62 (n)
mouse
(Mus musculus)
Mammalia Rps17 34 16 35
  • 89.14 (n)
chicken
(Gallus gallus)
Aves RPS17 35
  • 98 (a)
OneToMany
RPS17L 34
  • 83.95 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 99 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rps17 34
  • 83.21 (n)
Str.6800 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8337 34
zebrafish
(Danio rerio)
Actinopterygii RPS17L 35
  • 98 (a)
OneToMany
zgc:114188 34
  • 82.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta RpS17 36 35
  • 79 (a)
worm
(Caenorhabditis elegans)
Secernentea rps-17 36 34 35
  • 69.49 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01474g 34
  • 66.06 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER319W 34
  • 65.75 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPS17A 34 35
  • 63.61 (n)
RPS17B 35 37
  • 57 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G05220 34
  • 58.2 (n)
rice
(Oryza sativa)
Liliopsida Os03g0109500 34
  • 61.16 (n)
Os.46371 34
wheat
(Triticum aestivum)
Liliopsida Ta.22649 34
bread mold
(Neurospora crassa)
Ascomycetes NCU07014 34
  • 69.59 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rps1701 34
  • 62.87 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14632 34
Species where no ortholog for RPS17 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RPS17 Gene

ENSEMBL:
Gene Tree for RPS17 (if available)
TreeFam:
Gene Tree for RPS17 (if available)

Paralogs for RPS17 Gene

No data available for Paralogs for RPS17 Gene

Variants for RPS17 Gene

Sequence variations from dbSNP and Humsavar for RPS17 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs116840811 Pathogenic 82,540,427(-) CAACA(G/T)GGTAG nc-transcript-variant, reference, missense
rs116840812 Pathogenic 82,538,940(-) AGTAA(-/GA)GGTAT nc-transcript-variant, reference, frameshift-variant
rs6991 Pathogenic 82,538,982(-) AGTTA(C/G/T)GTCAC nc-transcript-variant, reference, synonymous-codon
rs1000298418 -- 82,537,392(+) GCCAC(C/T)TGCTT intron-variant
rs1000328941 -- 82,537,177(+) AACAC(C/T)GTTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RPS17 Gene

Variant ID Type Subtype PubMed ID
esv21531 CNV gain+loss 19812545
esv22027 CNV gain+loss 19812545
nsv1035899 CNV gain 25217958
nsv1069878 CNV deletion 25765185
nsv1120052 OTHER inversion 24896259
nsv1126402 CNV deletion 24896259
nsv1131093 CNV deletion 24896259
nsv469699 CNV loss 16826518
nsv471686 CNV gain+loss 15918152
nsv483125 CNV loss 15286789
nsv833071 CNV gain 17160897
nsv952012 CNV deletion 24416366
nsv976958 CNV duplication 23825009

Relevant External Links for RPS17 Gene

Human Gene Mutation Database (HGMD)
RPS17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPS17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for RPS17 Gene

Disorders for RPS17 Gene

MalaCards: The human disease database

(19) MalaCards diseases for RPS17 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 4
  • dba4
diamond-blackfan anemia
  • diamond-blackfan anemia 1
rps17-related diamond-blackfan anemia
  • diamond-blackfan anemia 4
congenital hypoplastic anemia
  • congenital aplastic anemia
immune system disease
  • immune system and disorders
- elite association - COSMIC cancer census association via MalaCards
Search RPS17 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RS17_HUMAN
  • Diamond-Blackfan anemia 4 (DBA4) [MIM:612527]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269 PubMed:17647292, ECO:0000269 PubMed:19061985}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RPS17

Genetic Association Database (GAD)
RPS17
Human Genome Epidemiology (HuGE) Navigator
RPS17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPS17
genes like me logo Genes that share disorders with RPS17: view

No data available for Genatlas for RPS17 Gene

Publications for RPS17 Gene

  1. [Mapping the genes for ribosomal proteins S14 and S17 on human chromosomes using cDNA from a panel of hybrid cells]. (PMID: 7661859) Filipenko M.L. … Mertvetsov N.P. (Bioorg. Khim. 1995) 2 3 22 64
  2. Initial characterization of the human central proteome. (PMID: 21269460) Burkard T.R. … Colinge J. (BMC Syst. Biol. 2011) 3 4 64
  3. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PMID: 21406692) Rigbolt K.T. … Blagoev B. (Sci. Signal. 2011) 3 4 64
  4. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PMID: 20068231) Olsen J.V. … Mann M. (Sci. Signal. 2010) 3 4 64
  5. Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. (PMID: 20378560) Konno Y. … Ito E. (Haematologica 2010) 3 46 64

Products for RPS17 Gene

Sources for RPS17 Gene

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