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RPS17 ribosomal protein S17 [ Homo sapiens (human) ]

Gene ID: 6218, updated on 8-May-2016
Official Symbol
RPS17provided by HGNC
Official Full Name
ribosomal protein S17provided by HGNC
Primary source
HGNC:HGNC:10397
See related
Ensembl:ENSG00000182774 HPRD:01600; MIM:180472; Vega:OTTHUMG00000147355
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
S17; DBA4; RPS17L; RPS17L1; RPS17L2
Summary
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]
Orthologs
Location:
15q
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (82536750..82540544, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (82821161..82824865, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene golgin A6 family-like 17, pseudogene Neighboring gene dynamin 1 pseudogene 38 Neighboring gene cytoplasmic polyadenylation element binding protein 1 Neighboring gene CPEB1 antisense RNA 1 Neighboring gene adaptor related protein complex 3 beta 2 subunit Neighboring gene serine/arginine-rich splicing factor 9 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Diamond-Blackfan anemia 4
MedGen: C2675860 OMIM: 612527 GeneReviews: Diamond-Blackfan Anemia
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2015-12-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2015-12-10)

ClinGen Genome Curation PagePubMed

Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, ribosomal protein S17 (RPS17), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human ribosomal protein S18 (RPS18) at amino acid residues 116-117 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC72007

Gene Ontology Provided by GOA

Function Evidence Code Pubs
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
structural constituent of ribosome NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
SRP-dependent cotranslational protein targeting to membrane TAS
Traceable Author Statement
more info
 
erythrocyte homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
Traceable Author Statement
more info
 
rRNA processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
rRNA processing TAS
Traceable Author Statement
more info
 
ribosomal small subunit assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
ribosomal small subunit biogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
translation IC
Inferred by Curator
more info
PubMed 
translational initiation NAS
Non-traceable Author Statement
more info
PubMed 
translational initiation TAS
Traceable Author Statement
more info
 
viral transcription TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
cytosolic small ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
ribosome NAS
Non-traceable Author Statement
more info
PubMed 

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

  1. NG_009890.1 RefSeqGene

    Range
    4694..8488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001021.4NP_001012.1  40S ribosomal protein S17

    See identical proteins and their annotated locations for NP_001012.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the supported protein.
    Source sequence(s)
    BC062715, BE905890, BM017772
    Consensus CDS
    CCDS10320.1
    UniProtKB/Swiss-Prot
    P08708
    Related
    ENSP00000346046, OTTHUMP00000248655, ENST00000330244, OTTHUMT00000419038
    Conserved Domains (1) summary
    pfam00833
    Location:1122
    Ribosomal_S17e; Ribosomal S17

RNA

  1. NR_111943.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BE905890, BI597659, DA310472
    Related
    ENST00000560229
  2. NR_111944.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes an additional exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for non-stop mRNA decay (NSD).
    Source sequence(s)
    BC062715, BE905890, BM017772, BM457623
    Related
    ENST00000558397, OTTHUMT00000419042

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    82536750..82540544 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_1

Genomic

  1. NT_187606.1 Reference GRCh38.p2 ALT_REF_LOCI_1

    Range
    325856..329650 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    82947123..82950917 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001199057.1: Suppressed sequence

    Description
    NM_001199057.1: This RefSeq was permanently suppressed because it is a redundant RefSeq for the single RPS17 gene that is represented in the GRCh38 primary reference genome assembly.