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    RPS24 ribosomal protein S24 [ Homo sapiens (human) ]

    Gene ID: 6229, updated on 28-Oct-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See RPS24 in Genome Data Viewer
    Location:
    10q22.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (78033863..78056806)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (78902909..78925852)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (79793621..79816564)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:79730866-79731376 Neighboring gene H2A.Z histone pseudogene 5 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:79743812-79745011 Neighboring gene RNA polymerase III subunit A Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:79784551-79785750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3613 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:79799147-79799658 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:79799659-79800168 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:79800489-79800990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3616 Neighboring gene G protein subunit alpha i2 pseudogene 2 Neighboring gene VISTA enhancer hs2223 Neighboring gene uncharacterized LOC105378375

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Clone Names

    • DKFZp686N1586

    Gene Ontology Provided by GOA

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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  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:1130
      PTZ00071; 40S ribosomal protein S24; Provisional
    2. NM_001142282.2NP_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:1130
      PTZ00071; 40S ribosomal protein S24; Provisional
    3. NM_001142283.2NP_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:1130
      PTZ00071; 40S ribosomal protein S24; Provisional
    4. NM_001142284.2NP_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:1130
      PTZ00071; 40S ribosomal protein S24; Provisional
    5. NM_001142285.2NP_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:1130
      PTZ00071; 40S ribosomal protein S24; Provisional
    6. NM_033022.4NP_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:1130
      PTZ00071; 40S ribosomal protein S24; Provisional

    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_000010.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      78902909..78925852
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)