RPS24 Gene
protein-coding GIFtS: 62
GCID: GC10P079793
|
|
ribosomal protein S24
| |
Aliases
for RPS24 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ribosomal Protein S241 2 | | S241 2 | | DBA32 5 | | 40S Ribosomal Protein S242 |
Export aliases for RPS24 gene to outside databasesPrevious GC identifers: GC10P078750 GC10P079003 GC10P079686 GC10P079138 GC10P079463 GC10P073788 |
Summaries
for RPS24 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for RPS24:
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 geneencodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family ofribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have beenfound for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes ofthis gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. (provided by RefSeq,Nov 2008)
UniProtKB/Swiss-Prot: RS24_HUMAN, P62847Function: Required for processing of pre-rRNA and maturation of 40S ribosomal subunits
Gene Wiki entry for RPS24
|
Genomic Views
for RPS24 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_030059.13
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the RPS24 gene promoter:
C/EBPbeta AML1a Egr-1 FOXD1 CUTL1 Ik-3 POU3F2 RORalpha1 FOXC1 Nkx6-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for RPS24
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RPS24 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10q22 Ensembl cytogenetic band: 10q22.3 HGNC cytogenetic band: 10q22RPS24 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P079793: view genomic region
(about GC identifiers)
Start:
|
79,793,518 bp from pter |
End:
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79,816,571 bp from pter |
Size:
|
23,054 bases |
Orientation:
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plus strand |
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Proteins
for RPS24 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: RS24_HUMAN, P62847 (See
protein sequence)Recommended Name: 40S ribosomal protein S24 Size: 133 amino acids; 15423 Da
Secondary accessions: E7EPK6 P16632 Q5T0P7 Q5T0P8 Q7Z3D1Alternative splicing: 4 isoforms: P62847-1, P16632-1 P62847-2, P16632-2 P62847-3 P62847-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for RPS24: NX_P62847
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P62847
RPS24 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (6 alternative transcripts):
NP_001017.1 NP_001135754.1 NP_001135755.1 NP_001135756.1 NP_001135757.1 NP_148982.1
ENSEMBL proteins: ENSP00000361435 ENSP00000354074 ENSP00000414321 ENSP00000415549 Reactome Protein details: P62847
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
RPS24 for ontologies About GeneDecksing
RPS24 Antibody Products:
Assay Products for RPS24: |
Protein
Domains /
Families
for RPS24 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RPS24 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P62847ProtoNet protein and cluster: P62847 UniProtKB/Swiss-Prot: RS24_HUMAN, P62847Similarity: Belongs to the ribosomal protein S24e family |
Function
for RPS24 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: RS24_HUMAN, P62847Function: Required for processing of pre-rRNA and maturation of 40S ribosomal subunits Genatlas biochemistry entry for RPS24:40S ribosomal protein S24,small subunit,5kDa
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RPS24 (see all 6)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS24 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
RPS24 for ontologies About GeneDecksing
6 GenomeRNAi human phenotypes for RPS24:
|
Pathways & Interactions
for RPS24 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Synthesis of PB1-F2 | | | 2 | Translation initiation complex formation | | | 3 | Metabolism of mRNA | | | 4 | Disease | | | 5 | Generic Transcription Pathway | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  GeneGo (Thomson Reuters) Pathway for RPS24
1  BioSystems Pathway for RPS24
5/32 
Reactome Pathways for RPS24 (see all 32)
1 
Kegg Pathway (Kegg details for RPS24):
RPS24 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RPS24
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/379 Interacting proteins for RPS24 (P628472, 3 ENSP000004143214) via UniProtKB, MINT, STRING, and/or I2D (see all 379)About this table
Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay |
TAS | -- | | GO:0000462 | maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) |
IBA | -- | | GO:0006364 | rRNA processing |
IMP | 18230666 | | GO:0006412 | translation |
TAS | -- | | GO:0006413 | translational initiation |
TAS | -- |
RPS24 for ontologies About GeneDecksing
|
Drugs & Compounds
for RPS24 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for RPS24
Search CenterWatch for drugs/clinical trials and news about RPS24 / RS24
|
Transcripts
for RPS24 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for RPS24 gene (6 alternative transcripts): NM_001026.4 NM_001142282.1 NM_001142283.1 NM_001142284.1 NM_001142285.1 NM_033022.3 Unigene Cluster for RPS24: Ribosomal protein S24 Hs.280130 [show with all ESTs]Unigene Representative Sequence: NM_00114228514 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000485708 ENST00000478655 ENST00000372360 ENST00000464716 ENST00000476545
ENST00000360830 ENST00000466129 ENST00000475468 ENST00000482069 ENST00000465692
ENST00000467106 ENST00000480662 ENST00000440692(uc001jzs.3) ENST00000435275(uc010qlo.2 uc001jzp.3 uc001jzq.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RPS24 (see all 11)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RPS24 (see all 6)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 6): RPS24 (NM_033022) | | | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA sequence: AF147330.1 AK094613.1 AK311776.1 AK311910.1 BC000523.2 BC003149.1 BC062293.1 BC071926.1 BX537975.1 M31520.1 24/99 DOTS entries (see all 99): DT.95193066 DT.100697535 DT.97856986 DT.100697069 DT.95109409 DT.100697545 DT.100697555 DT.100697534 DT.91714925 DT.120918612 DT.95207427 DT.101987192 DT.95249953 DT.100697543 DT.100031989 DT.91773577 DT.95250035 DT.121236718 DT.95350593 DT.100799006 DT.121236773 DT.100850480 DT.91773586 DT.120752814 24/1967 AceView cDNA sequences (see all 1967): AI081500 AA131903 AA961693 BG254235 AA622553 BM710360 AW873039 AA570177 BM907264 CD106586 BU943497 AI620920 BQ549757 BQ957367 BM830134 CB131084 BE392351 AA553754 CB137482 AI701906 N33455 AA584363 AA157078 AA877824
GeneLoc Exon Structure
|
Expression
for RPS24 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| RPS24 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCTGTATGA
About this image
See RPS24 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RPS24
SOURCE GeneReport for Unigene cluster: Hs.280130
UniProtKB/Swiss-Prot: RS24_HUMAN, P62847Tissue specificity: Mature tissues, such as adult brain, skeletal muscle, heart, and kidney, express low levels,whereas tissues and organs with significant populations of proliferating cells, such as fetal brain, placenta, bonemarrow, and various glandular organs, contain significantly higher levels
SABiosciences Custom PCR Arrays for RPS24
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RPS24
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS24 |
Orthologs
for RPS24 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for RPS24 gene from 10/39 species (see all 39) About this table
ENSEMBL Gene Tree for RPS24 (if available)
TreeFam Gene Tree for RPS24 (if available) |
Paralogs
for RPS24 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for RPS24 gene
RPS24 for paralogs About GeneDecksing
5/37 Pseudogenes.org Pseudogenes for RPS24 (see all 37)
PGOHUM00000256551 PGOHUM00000238649 PGOHUM00000242558 PGOHUM00000242633 PGOHUM00000242776
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Genomic Variants
for RPS24 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 10 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RPS24 (79793518 - 79816571 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RPS24: --
Human Gene Mutation Database (HGMD): RPS24
Locus Specific Mutation Databases (LSDB): RPS24
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RPS24 |
|
Disorders
/ Diseases
for RPS24 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
RPS24 for disorders About GeneDecksing
OMIM gene information: 602412
OMIM disorders: 610629
UniProtKB/Swiss-Prot: RS24_HUMAN, P62847
Defects in RPS24 are the cause of Diamond-Blackfan anemia type 3 (DBA3) [MIM:610629]. DBA3 is a form ofDiamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy.Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and anincreased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenitalanomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenitalanomalies
9  diseases for RPS24: About MalaCardsdiamond-blackfan anemia anemia macrocytic anemia short stature
aplastic anemia hepatitis e hepatitis melanoma
malaria
2 diseases from the University of Copenhagen DISEASES database for RPS24:Diamond-Blackfan anemia Pure red-cell aplasia GeneTests: RPS24
Diamond-Blackfan Anemia
Human Genome Epidemiology (HuGE) Navigator: RPS24 (2 documents)
Export disorders for RPS24 gene to outside databases
|
Publications
for RPS24 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for RPS24 gene, integrated from 9 sources (see all 50):
(articles sorted by number of sources associating them with RPS24) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The gene encoding human ribosomal protein S24 and tissue-specific expression of differentially spliced mRNAs. (PubMed id 8647458)1, 2, 9 Xu W.-B. and Roufa D.J. (1996)
- Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. (PubMed id 17186470)1, 2, 9 Gazda H.T.... Sieff C.A. (2006)
- A cDNA encoding human ribosomal protein S24. (PubMed id 2210388)1, 2, 9 Brown S.J.... Roufa D.J. (1990)
- Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. (PubMed id 18230666)1, 2 Choesmel V....Gleizes P.E. (2008)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- A map of 75 human ribosomal protein genes. (PubMed id 9582194)1, 3 Kenmochi N.... Page D.C. (1998)
- Mapping of the human ribosomal small subunit protein gene RPS24 to the chromosome 10q22-q23 boundary. (PubMed id 9027498)1, 3 Jones A.M....Hewitt J.E. (1997)
- Characterization of the human small-ribosomal-subunit proteins by N- terminal and internal sequencing, and mass spectrometry. (PubMed id 8706699)1, 2 Vladimirov S.N.... Otto A. (1996)
- Ribosomal protein S19 and S24 insufficiency cause dis tinct cell cycle defects in Diamond-Blackfan anemia. (PubMed id 19689926)1, 9 Badhai J....Dahl N. (2009)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
|
External Searches for RPS24 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing RPS24 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RPS24 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RPS24 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for RPS24 | Pharmacogenomics, SNPs, Pathways | | Diamond-Blackfan Anemia mutation database | http://www.dbagenes.unito.it/home.php?select_db=RPS24 |
|
| | |
About This Section
| Patent Information for RPS24 gene:
Search GeneIP for patents involving RPS24
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for RPS24 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS24 |
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