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RPS24 ribosomal protein S24 [ Homo sapiens (human) ]

Gene ID: 6229, updated on 13-Jun-2021

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
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
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Genomic context

See RPS24 in Genome Data Viewer
Location:
10q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (78033863..78056806)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (79793621..79816564)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9595 Neighboring gene RNA polymerase III subunit A Neighboring gene G protein subunit alpha i2 pseudogene 2 Neighboring gene uncharacterized LOC105378373

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686N1586

Gene Ontology Provided by GOA

General protein information

Preferred Names
40S ribosomal protein S24
Names
small ribosomal subunit protein eS24

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_012633.1 RefSeqGene

    Range
    5104..11938
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1145

mRNA and Protein(s)

  1. NM_001026.5NP_001017.1  40S ribosomal protein S24 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
    P62847
    Related
    ENSP00000478869.2, ENST00000613865.5
    Conserved Domains (1) summary
    PTZ00071
    Location:1130
    PTZ00071; 40S ribosomal protein S24; Provisional
  2. NM_001142282.2NP_001135754.1  40S ribosomal protein S24 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
    Related
    ENSP00000354074.5, ENST00000360830.9
    Conserved Domains (1) summary
    PTZ00071
    Location:1130
    PTZ00071; 40S ribosomal protein S24; Provisional
  3. NM_001142283.2NP_001135755.1  40S ribosomal protein S24 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/Swiss-Prot
    P62847
    Related
    ENSP00000494231.1, ENST00000464716.6
    Conserved Domains (1) summary
    PTZ00071
    Location:1130
    PTZ00071; 40S ribosomal protein S24; Provisional
  4. NM_001142284.2NP_001135756.1  40S ribosomal protein S24 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
    Related
    ENSP00000496738.1, ENST00000645440.1
    Conserved Domains (1) summary
    PTZ00071
    Location:1130
    PTZ00071; 40S ribosomal protein S24; Provisional
  5. NM_001142285.2NP_001135757.1  40S ribosomal protein S24 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:1130
    PTZ00071; 40S ribosomal protein S24; Provisional
  6. NM_033022.4NP_148982.1  40S ribosomal protein S24 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/Swiss-Prot
    P62847
    Related
    ENSP00000361435.4, ENST00000372360.9
    Conserved Domains (1) summary
    PTZ00071
    Location:1130
    PTZ00071; 40S ribosomal protein S24; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    78033863..78056806
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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