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RPS17 ribosomal protein S17 [ Homo sapiens (human) ]

Gene ID: 6218, updated on 10-Dec-2024

Summary

Official Symbol
RPS17provided by HGNC
Official Full Name
ribosomal protein S17provided by HGNC
Primary source
HGNC:HGNC:10397
See related
Ensembl:ENSG00000182774 MIM:180472; AllianceGenome:HGNC:10397
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; eS17; 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]
Expression
Ubiquitous expression in ovary (RPKM 529.6), bone marrow (RPKM 399.8) and 25 other tissues See more
Orthologs
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Genomic context

See RPS17 in Genome Data Viewer
Location:
15q25.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (82536750..82540457, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (80400970..80404677, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (83205501..83209208, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene golgin A6 family like 17, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6749 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:82825221-82825722 Neighboring gene dynamin 1 pseudogene 38 Neighboring gene cytoplasmic polyadenylation element binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6750 Neighboring gene CPEB1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 5793 Neighboring gene adaptor related protein complex 3 subunit beta 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6751 Neighboring gene serine and arginine rich splicing factor 9 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC72007

Gene Ontology Provided by GOA

General protein information

Preferred Names
small ribosomal subunit protein eS17
Names
40S ribosomal protein S17

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

  1. NG_009890.2 RefSeqGene

    Range
    5088..8795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1143

mRNA and Protein(s)

  1. NM_001021.6NP_001012.1  small ribosomal subunit protein eS17

    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
    Consensus CDS
    CCDS10320.1
    UniProtKB/Swiss-Prot
    B2R4U4, P08708, P0CW22
    UniProtKB/TrEMBL
    H0YN88
    Related
    ENSP00000498019.1, ENST00000647841.1
    Conserved Domains (1) summary
    pfam00833
    Location:1122
    Ribosomal_S17e; Ribosomal S17

RNA

  1. NR_111943.2 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
  2. NR_111944.3 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, BM457623
    Related
    ENST00000558397.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    82536750..82540457 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187606.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    325856..329563 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    80400970..80404677 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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