RPS17 ribosomal protein S17 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nuclear and nucleolar localization signals within the human ribosomal protein S17 have been mapped.
Title: Identification and fine mapping of nuclear and nucleolar localization signals within the human ribosomal protein S17.
Human S17 insertion was a major factor for hepatitis E virus in cell culture adaptation.
Title: Adaptation of a genotype 3 hepatitis E virus to efficient growth in cell culture depends on an inserted human gene segment acquired by recombination.
Data show 1 proband with an RPL5 deletion, 1 patient with an RPL35A deletion, 3 with RPS17 deletions, and 1 with an RPS19 deletion.
Title: Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.
Studies identified deletions at known Diamond-Blackfan anemia (DBA)-related ribosomal protein gene loci in 17% (9 of 51) of patients without an identifiable mutation, including RPS19, RPS17, RPS26, and RPL35A.
Title: Ribosomal protein gene deletions in Diamond-Blackfan anemia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.
Data show in Diamond-Blackfan anemia, mutation in RPS17 wasn detected and the mutation affects the translation initiation start codon, changing T to G (c.2T>G), thus eliminating the natural start of RPS17 protein biosynthesis
Title: Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.

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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

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S1199 (e-PCR)
- UniSTS:64560

RH67507 (e-PCR)
- UniSTS:85108

G32815 (e-PCR)
- UniSTS:117394

REN76280 (e-PCR)
- UniSTS:401080

RH71452 (e-PCR)
- UniSTS:19157

GDB:388551 (e-PCR)
- UniSTS:157157

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables structural constituent of ribosome	HDA more info	PubMed
enables structural constituent of ribosome	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of ribosome	IMP Inferred from Mutant Phenotype more info	PubMed
enables structural constituent of ribosome	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cytoplasmic translation	IC Inferred by Curator more info	PubMed
involved_in cytoplasmic translation	NAS Non-traceable Author Statement more info	PubMed
involved_in erythrocyte homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ribosomal small subunit biogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in ribosomal small subunit biogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in translation	IC Inferred by Curator more info	PubMed
involved_in translational initiation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in cytosolic ribosome	IDA Inferred from Direct Assay more info	PubMed
part_of cytosolic small ribosomal subunit	HDA more info	PubMed
part_of cytosolic small ribosomal subunit	IDA Inferred from Direct Assay more info	PubMed
part_of cytosolic small ribosomal subunit	NAS Non-traceable Author Statement more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in ribosome	NAS Non-traceable Author Statement more info	PubMed
part_of small-subunit processome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

NG_009890.2 RefSeqGene

Range

5088..8795

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_1143

mRNA and Protein(s)

NM_001021.6 → NP_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:1 → 122

Ribosomal_S17e; Ribosomal S17

RNA

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
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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

82536750..82540457 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187606.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

325856..329563 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

80400970..80404677 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.