RPS24 ribosomal protein S24 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPS24provided by HGNC
Official Full Name: ribosomal protein S24provided by HGNC
Primary source: HGNC:HGNC:10411
See related: Ensembl:ENSG00000138326 MIM:602412; AllianceGenome:HGNC:10411
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: S24; DBA3; eS24
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 4 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 S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]
Expression: Ubiquitous expression in ovary (RPKM 356.3), bone marrow (RPKM 246.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (78033863..78056806)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (78902909..78925852)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (79793621..79816564)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Autophagy-dependent alternative splicing of ribosomal protein S24 produces a more stable isoform that aids in hypoxic cell survival.
Title: Autophagy-dependent alternative splicing of ribosomal protein S24 produces a more stable isoform that aids in hypoxic cell survival.
Downregulated long intergenic non-coding RNA 00,174 represses malignant biological behaviors of lung cancer cells by regulating microRNA-584-3p/ribosomal protein S24 axis.
Title: Downregulated long intergenic non-coding RNA 00,174 represses malignant biological behaviors of lung cancer cells by regulating microRNA-584-3p/ribosomal protein S24 axis.
RPS24c Isoform Facilitates Tumor Angiogenesis Via Promoting the Stability of MVIH in Colorectal Cancer.
Title: RPS24c Isoform Facilitates Tumor Angiogenesis Via Promoting the Stability of MVIH in Colorectal Cancer.
Three functional variants were identified to affect RPS24 expression and significantly associated with risk of colorectal cancer.
Title: Three functional variants were identified to affect RPS24 expression and significantly associated with risk of colorectal cancer.
The results show that RPS19, RPS21 or RPS24 are upregulated in malignant tissue and may serve as putative biomarkers for prostate cancer.
Title: Expression of ribosomal proteins in normal and cancerous human prostate tissue.
findings suggest that two rare heterozygous truncating variations (RPS24 Q191X and CD300LF P261fsX266) are risk candidates for autism spectrum disorder.
Title: Rare heterozygous truncating variations and risk of autism spectrum disorder: Whole-exome sequencing of a multiplex family and follow-up study in a Japanese population.
RPS24 gene may be a promising biomarker for therapy in human colon cancer and may have a potential application in the diagnosis or treatment of human colon cancer.
Title: RPS24 knockdown inhibits colorectal cancer cell migration and proliferation in vitro.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.
Primary fibroblasts from Diamond-Blackfan anemia patients with truncating mutations in RPS19 or in RPS24 have a marked reduction in proliferative capacity.
Title: Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.
Cells from Diamond-Blackfan anemia patients carrying mutations in RPS24 have defective pre-rRNA maturation, as in the case of RPS19 mutations.
Title: Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.

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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 3 MedGen: C1857719 OMIM: 610629 GeneReviews: Diamond-Blackfan Anemia	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2019-10-23) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2019-10-23) 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
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human ribosomal protein S24 (RPS24) at amino acid residues 96-97 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

D8S2279 (e-PCR)
- UniSTS:473907

RP_S24_2 (e-PCR)
- UniSTS:53577

D10S2201 (e-PCR)
- UniSTS:31067

D14S647E (e-PCR)
- UniSTS:151548

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
enables translation initiation factor binding	ISS Inferred from Sequence or Structural Similarity more info

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

Component	Evidence Code	Pubs
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
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 endoplasmic reticulum	IDA Inferred from Direct Assay more info
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 nucleus	HDA more info	PubMed
part_of small ribosomal subunit	HDA 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 eS24

Names: 40S ribosomal protein S24

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_012633.1 RefSeqGene

Range

5104..11938

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1145

mRNA and Protein(s)

NM_001026.5 → NP_001017.1 small ribosomal subunit protein eS24 isoform c

See identical proteins and their annotated locations for NP_001017.1

Status: REVIEWED

Description

Transcript Variant: This variant (c) uses an alternate splice pattern in the 3' coding region, compared to variant d. The resulting protein (isoform c) has a shorter and distinct C-terminus, compared to isoform d.

Source sequence(s)

BG944046, M31520

Consensus CDS

CCDS7355.1

UniProtKB/Swiss-Prot

E7EPK6, P16632, P62847, Q5T0P7, Q5T0P8, Q7Z3D1

UniProtKB/TrEMBL

E7ETK0

Related

ENSP00000478869.2, ENST00000613865.5

Conserved Domains (1) summary

PTZ00071
Location:1 → 130

PTZ00071; 40S ribosomal protein S24; Provisional
NM_001142282.2 → NP_001135754.1 small ribosomal subunit protein eS24 isoform b

See identical proteins and their annotated locations for NP_001135754.1

Status: REVIEWED

Description

Transcript Variant: This variant (f) uses an alternate splice pattern in the 3' coding region, compared to variant d. The resulting protein (isoform b) has a shorter and distinct C-terminus, compared to isoform d. Variants b and f both encode the same protein.

Source sequence(s)

AL512628, BM745909, BX647260

Consensus CDS

CCDS86123.1

UniProtKB/TrEMBL

A0A2R8Y849, E7ETK0

Related

ENSP00000354074.5, ENST00000360830.9

Conserved Domains (1) summary

PTZ00071
Location:1 → 130

PTZ00071; 40S ribosomal protein S24; Provisional
NM_001142283.2 → NP_001135755.1 small ribosomal subunit protein eS24 isoform e

See identical proteins and their annotated locations for NP_001135755.1

Status: REVIEWED

Description

Transcript Variant: This variant (e) uses an alternate splice pattern in the 3' coding region, compared to variant d. The resulting protein (isoform e) has a shorter and distinct C-terminus, compared to isoform d.

Source sequence(s)

AL512628, BG944046, BX537975

Consensus CDS

CCDS86122.1

UniProtKB/TrEMBL

E7ETK0

Related

ENSP00000494231.1, ENST00000464716.6

Conserved Domains (1) summary

PTZ00071
Location:1 → 130

PTZ00071; 40S ribosomal protein S24; Provisional
NM_001142284.2 → NP_001135756.1 small ribosomal subunit protein eS24 isoform b

See identical proteins and their annotated locations for NP_001135756.1

Status: REVIEWED

Description

Transcript Variant: This variant (b) uses an alternate splice pattern in the 3' coding region, compared to variant d. The resulting protein (isoform b) has a shorter and distinct C-terminus, compared to isoform d. Variants b and f both encode the same protein.

Source sequence(s)

BG944046, CD677556

Consensus CDS

CCDS86124.1

UniProtKB/TrEMBL

A0A2R8Y849, E7ETK0

Related

ENSP00000496738.1, ENST00000645440.1

Conserved Domains (1) summary

PTZ00071
Location:1 → 130

PTZ00071; 40S ribosomal protein S24; Provisional
NM_001142285.2 → NP_001135757.1 small ribosomal subunit protein eS24 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (d) represents the longest transcript and encodes the longest protein (isoform d).

Source sequence(s)

AL512628, BE300488, BG944046, DB116225

Consensus CDS

CCDS44443.1

UniProtKB/Swiss-Prot

P62847

Related

ENSP00000414321.1, ENST00000440692.6

Conserved Domains (1) summary

PTZ00071
Location:1 → 130

PTZ00071; 40S ribosomal protein S24; Provisional
NM_033022.4 → NP_148982.1 small ribosomal subunit protein eS24 isoform a

See identical proteins and their annotated locations for NP_148982.1

Status: REVIEWED

Description

Transcript Variant: This variant (a) uses an alternate splice pattern in the 3' coding region, compared to variant d. The resulting protein (isoform a) has a shorter and distinct C-terminus, compared to isoform d.

Source sequence(s)

BC071926, BG944046

Consensus CDS

CCDS7356.1

UniProtKB/TrEMBL

E7ETK0

Related

ENSP00000361435.4, ENST00000372360.9

Conserved Domains (1) summary

PTZ00071
Location:1 → 130

PTZ00071; 40S ribosomal protein S24; Provisional