This gene encodes a protein sharing a low level of sequence similarity with human ribosomal protein L24. Although this gene has been referred to as RPL24, L30, and 60S ribosomal protein L30 isolog in the sequence databases, it is distinct from the human genes officially named RPL24 (which itself has been referred to as ribosomal protein L30) and RPL30. The protein encoded by th... See more...

Aliases for RSL24D1 Gene

Aliases for RSL24D1 Gene

  • Ribosomal L24 Domain Containing 1 2 3 5
  • RPL24L 2 3 4
  • Probable Ribosome Biogenesis Protein RLP24 3 4
  • Ribosomal L24 Domain-Containing Protein 1 3 4
  • HRP-L30-Iso 2 3
  • C15orf15 3 4
  • RPL24 2 3
  • L30 2 3
  • Homolog Of Yeast Ribosomal Like Protein 24 3
  • Chromosome 15 Open Reading Frame 15 2
  • 60S Ribosomal Protein L30 Isolog 3
  • Ribosomal Protein L24-Like 4
  • My024 Protein 3
  • RSL24D1 5
  • RLP24 3
  • TVAS3 3

External Ids for RSL24D1 Gene

Previous HGNC Symbols for RSL24D1 Gene

  • C15orf15

Previous GeneCards Identifiers for RSL24D1 Gene

  • GC15M053261
  • GC15M055473
  • GC15M032299

Summaries for RSL24D1 Gene

Entrez Gene Summary for RSL24D1 Gene

  • This gene encodes a protein sharing a low level of sequence similarity with human ribosomal protein L24. Although this gene has been referred to as RPL24, L30, and 60S ribosomal protein L30 isolog in the sequence databases, it is distinct from the human genes officially named RPL24 (which itself has been referred to as ribosomal protein L30) and RPL30. The protein encoded by this gene localizes to the nucleolus and is thought to play a role in the biogenesis of the 60S ribosomal subunit. The precise function of this gene is currently unknown. This gene utilizes alternative polyadenylation signals and has multiple pseudogenes. [provided by RefSeq, Jul 2012]

GeneCards Summary for RSL24D1 Gene

RSL24D1 (Ribosomal L24 Domain Containing 1) is a Protein Coding gene. Diseases associated with RSL24D1 include Robinow Syndrome, Autosomal Dominant 1 and Diamond-Blackfan Anemia. Among its related pathways are Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome. An important paralog of this gene is RPL24.

UniProtKB/Swiss-Prot Summary for RSL24D1 Gene

  • Involved in the biogenesis of the 60S ribosomal subunit. Ensures the docking of GTPBP4/NOG1 to pre-60S particles (By similarity).

Gene Wiki entry for RSL24D1 Gene

Additional gene information for RSL24D1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RSL24D1 Gene

Genomics for RSL24D1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RSL24D1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J055194 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 609.7 +0.9 948 4.6 BRCA1 CEBPG SP1 HNRNPL CREB1 GATAD2A ATF7 REST ZNF629 IKZF1 RSL24D1 lnc-RAB27A-3 RAB27A PIGB C15orf65 ENSG00000279145 lnc-PIGB-2
GH15J055228 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE dbSUPER 611.1 -33.7 -33652 4.2 NR2F2 RELA HLF RSL24D1 RAB27A lnc-RAB27A-3 RF00001-124 PIGB
GH15J055401 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 23.8 -208.5 -208516 7.7 HNRNPL CREB1 GATAD2A CTCF PRDM10 REST ZNF629 ZNF512 RFX1 SIX5 C15orf65 CCPG1 RSL24D1 NEDD4 PYGO1 DNAAF4 PIGBOS1 PIGB RF00017-1793 DNAAF4-CCPG1
GH15J056037 Enhancer 1.3 FANTOM5 ENCODE 23.8 -843.9 -843932 6.5 CEBPG CREB1 GATAD2A ZBTB33 ATF7 PRDM10 ZNF629 TFE3 LEF1 SOX13 ZNF280D RSL24D1 TEX9 PYGO1 PRTG RFX7 MNS1 TCF12 PIGBOS1 RN7SL568P
GH15J055497 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 13.5 -301.3 -301252 1.8 GATAD2A TFE3 RFX1 ZNF143 ZIC2 RBFOX2 POLR2A RXRB NR2C1 IRF2 DNAAF4 DNAAF4-CCPG1 RSL24D1 PYGO1 C15orf65 PIGB piR-31292-064 CCPG1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RSL24D1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RSL24D1

Top Transcription factor binding sites by QIAGEN in the RSL24D1 gene promoter:
  • c-Ets-1
  • CUTL1
  • Elk-1
  • MEF-2A
  • SEF-1 (1)
  • STAT1
  • STAT1alpha
  • STAT1beta
  • XBP-1

Genomic Locations for RSL24D1 Gene

Genomic Locations for RSL24D1 Gene
chr15:55,180,806-55,197,049
(GRCh38/hg38)
Size:
16,244 bases
Orientation:
Minus strand
chr15:55,473,004-55,489,265
(GRCh37/hg19)
Size:
16,262 bases
Orientation:
Minus strand

Genomic View for RSL24D1 Gene

Genes around RSL24D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSL24D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSL24D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSL24D1 Gene

Proteins for RSL24D1 Gene

  • Protein details for RSL24D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHA3-RLP24_HUMAN
    Recommended name:
    Probable ribosome biogenesis protein RLP24
    Protein Accession:
    Q9UHA3
    Secondary Accessions:
    • B2RD72
    • Q561V8
    • Q8N6S8
    • Q96B04
    • Q96C76
    • Q96HJ1

    Protein attributes for RSL24D1 Gene

    Size:
    163 amino acids
    Molecular mass:
    19621 Da
    Quaternary structure:
    • Associated with nucleolar and cytoplasmic pre-60S particles. At the end of biogenesis it dissociates from cytoplasmic pre-60S particles and is likely to be exchanged for its ribosomal homolog, RPL24 (By similarity).

neXtProt entry for RSL24D1 Gene

Post-translational modifications for RSL24D1 Gene

  • Ubiquitination at Lys27, Lys73, and Lys88
  • Modification sites at PhosphoSitePlus

Other Protein References for RSL24D1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RSL24D1 Gene

Domains & Families for RSL24D1 Gene

Gene Families for RSL24D1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for RSL24D1 Gene

InterPro:
Blocks:
  • TRASH
  • Ribosomal protein L24E
ProtoNet:

Suggested Antigen Peptide Sequences for RSL24D1 Gene

GenScript: Design optimal peptide antigens:
  • Ribosomal protein L24-like (RLP24_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UHA3

UniProtKB/Swiss-Prot:

RLP24_HUMAN :
  • Belongs to the eukaryotic ribosomal protein eL24 family.
Family:
  • Belongs to the eukaryotic ribosomal protein eL24 family.
genes like me logo Genes that share domains with RSL24D1: view

Function for RSL24D1 Gene

Molecular function for RSL24D1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the biogenesis of the 60S ribosomal subunit. Ensures the docking of GTPBP4/NOG1 to pre-60S particles (By similarity).

Phenotypes From GWAS Catalog for RSL24D1 Gene

Gene Ontology (GO) - Molecular Function for RSL24D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IBA 21873635
GO:0003735 structural constituent of ribosome IEA,IBA 21873635
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with RSL24D1: view
genes like me logo Genes that share phenotypes with RSL24D1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RSL24D1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RSL24D1 Gene

Localization for RSL24D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSL24D1 Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RSL24D1 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RSL24D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA,IDA --
GO:0005840 ribosome IEA --
GO:0022625 cytosolic large ribosomal subunit IBA 21873635
genes like me logo Genes that share ontologies with RSL24D1: view

Pathways & Interactions for RSL24D1 Gene

PathCards logo

SuperPathways for RSL24D1 Gene

SuperPathway Contained pathways
1 Viral mRNA Translation
.53
genes like me logo Genes that share pathways with RSL24D1: view

Pathways by source for RSL24D1 Gene

1 KEGG pathway for RSL24D1 Gene

Gene Ontology (GO) - Biological Process for RSL24D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000027 ribosomal large subunit assembly IBA 21873635
GO:0006412 translation IEA,IBA 21873635
GO:0042254 ribosome biogenesis IEA --
GO:1902626 assembly of large subunit precursor of preribosome IBA 21873635
genes like me logo Genes that share ontologies with RSL24D1: view

No data available for SIGNOR curated interactions for RSL24D1 Gene

Drugs & Compounds for RSL24D1 Gene

(3) Drugs for RSL24D1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anisomycin Experimental Pharma Target JNK agonist, potent and specific, JNK, SAPK and p38 activator 0
L-3-Phenyllactic acid Experimental Pharma Target 0
puromycin Experimental Pharma Target 0
genes like me logo Genes that share compounds with RSL24D1: view

Transcripts for RSL24D1 Gene

mRNA/cDNA for RSL24D1 Gene

1 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RSL24D1

Alternative Splicing Database (ASD) splice patterns (SP) for RSL24D1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1: - -
SP2: -
SP3: -

Relevant External Links for RSL24D1 Gene

GeneLoc Exon Structure for
RSL24D1

Expression for RSL24D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RSL24D1 Gene

Protein differential expression in normal tissues from HIPED for RSL24D1 Gene

This gene is overexpressed in Lung (52.8) and Pancreas (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RSL24D1 Gene



Protein tissue co-expression partners for RSL24D1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RSL24D1

SOURCE GeneReport for Unigene cluster for RSL24D1 Gene:

Hs.274772

Evidence on tissue expression from TISSUES for RSL24D1 Gene

  • Nervous system(5)
  • Lung(4.6)
  • Liver(4.6)
  • Bone marrow(4.5)
  • Blood(4.4)
  • Lymph node(4.4)
  • Spleen(4.3)
  • Skin(3.8)
  • Muscle(3.1)
  • Kidney(3.1)
  • Pancreas(2.6)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with RSL24D1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RSL24D1 Gene

Orthologs for RSL24D1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RSL24D1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RSL24D1 30 31
  • 99.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RSL24D1 31
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RSL24D1 30 31
  • 92.96 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RSL24D1 30 31
  • 90.95 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rsl24d1 30 17 31
  • 87.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rsl24d1 30
  • 87.86 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RSL24D1 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC768911 30
  • 80.95 (n)
Lizard
(Anolis carolinensis)
Reptilia RSL24D1 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rsl24d1 30
  • 79.63 (n)
Zebrafish
(Danio rerio)
Actinopterygii rsl24d1 30 31
  • 74.95 (n)
OneToOne
wufa95d02 30
Fruit Fly
(Drosophila melanogaster)
Insecta RpL24-like 30 31
  • 58.49 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001545 30
  • 58.02 (n)
Worm
(Caenorhabditis elegans)
Secernentea rpl-24.2 30 31
  • 57.68 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RLP24 30 31 33
  • 58.02 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR346W 30
  • 56.31 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E09439g 30
  • 54.45 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G44860 30
  • 59.91 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0514000 30
  • 55.28 (n)
Os.2120 30
Barley
(Hordeum vulgare)
Liliopsida Hv.3722 30
Corn
(Zea mays)
Liliopsida Zm.7161 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8868 31
  • 57 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU05235 30
  • 51.47 (n)
Species where no ortholog for RSL24D1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RSL24D1 Gene

ENSEMBL:
Gene Tree for RSL24D1 (if available)
TreeFam:
Gene Tree for RSL24D1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RSL24D1: view image

Paralogs for RSL24D1 Gene

Paralogs for RSL24D1 Gene

(1) SIMAP similar genes for RSL24D1 Gene using alignment to 3 proteins:

  • RLP24_HUMAN
  • H3BMQ2_HUMAN
  • H3BPF2_HUMAN
genes like me logo Genes that share paralogs with RSL24D1: view

Variants for RSL24D1 Gene

Additional dbSNP identifiers (rs#s) for RSL24D1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RSL24D1 Gene

Variant ID Type Subtype PubMed ID
esv2761899 CNV gain+loss 21179565
nsv1039471 CNV gain 25217958
nsv1043789 CNV gain 25217958
nsv525768 CNV loss 19592680
nsv976937 CNV duplication 23825009
nsv984073 CNV duplication 23825009

Variation tolerance for RSL24D1 Gene

Residual Variation Intolerance Score: 64.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.75; 15.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RSL24D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSL24D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RSL24D1 Gene

Disorders for RSL24D1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RSL24D1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
robinow syndrome, autosomal dominant 1
  • drs1
diamond-blackfan anemia
  • diamond-blackfan anemia 1
robinow syndrome
  • robinow dwarfism
shwachman-diamond syndrome 1
  • sds1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RSL24D1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RSL24D1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RSL24D1 Gene

Publications for RSL24D1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Sequential protein association with nascent 60S ribosomal particles. (PMID: 12808088) Saveanu C … Fromont-Racine M (Molecular and cellular biology 2003) 2 3
  4. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A … Diaz JJ (Molecular biology of the cell 2002) 3 4
  5. Nog2p, a putative GTPase associated with pre-60S subunits and required for late 60S maturation steps. (PMID: 11707418) Saveanu C … Fromont-Racine M (The EMBO journal 2001) 2 3

Products for RSL24D1 Gene

Sources for RSL24D1 Gene