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Aliases for RSL24D1 Gene

Aliases for RSL24D1 Gene

  • Ribosomal L24 Domain Containing 1 2 3 5
  • Ribosomal L24 Domain-Containing Protein 1 3 4
  • C15orf15 3 4
  • RPL24L 3 4
  • Homolog Of Yeast Ribosomal Like Protein 24 3
  • Probable Ribosome Biogenesis Protein RLP24 3
  • Chromosome 15 Open Reading Frame 15 2
  • 60S Ribosomal Protein L30 Isolog 3
  • Ribosomal Protein L24-Like 4
  • My024 Protein 3
  • HRP-L30-Iso 3
  • RLP24 3
  • RPL24 3
  • TVAS3 3
  • L30 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 Diamond-Blackfan Anemia. Among its related pathways are Viral mRNA Translation. GO annotations related to this gene include structural constituent of ribosome.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSL24D1 Gene

Genomics for RSL24D1 Gene

Regulatory Elements for RSL24D1 Gene

Enhancers for RSL24D1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G055194 1.4 FANTOM5 ENCODE 18.7 +0.5 456 3.4 HDGF PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 PIGB RSL24D1 PIGBOS1 RAB27A C15orf65 ENSG00000279145
GH15G055275 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -84.1 -84103 10.4 HDGF PKNOX1 ARNT WRNIP1 SIN3A ZNF766 CBX5 FOS JUNB REST PIGB RSL24D1 RAB27A GC15P055286 GC15M056548
GH15G055248 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -54.4 -54406 5.7 FOXA2 MLX YY1 ZNF766 FOS JUNB TBX21 MIER3 ATF4 STAT3 RAB27A RSL24D1 PIGB PYGO1 CCPG1 GC15M056548 GC15P055286
GH15G056037 1.7 FANTOM5 Ensembl ENCODE 10.7 -843.9 -843915 6.5 PKNOX1 FOXA2 MLX FEZF1 DMAP1 ZNF2 YY1 ZNF766 FOS DEK PRTG RSL24D1 PYGO1 RN7SL568P CD24P2
GH15G055401 1.2 ENCODE 13.5 -208.5 -208493 7.7 CREB3L1 AGO1 DMAP1 FEZF1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D RSL24D1 PYGO1 DNAAF4 C15orf65 PIGB CCPG1 GC15M056539
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RSL24D1 on UCSC Golden Path with GeneCards custom track

Promoters for RSL24D1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000076799 167 2200 HDGF PKNOX1 FOXA2 MLX CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for RSL24D1 Gene

Chromosome:
15
Start:
55,180,806 bp from pter
End:
55,197,067 bp from pter
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 isoforms=27, 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

Protein Domains for RSL24D1 Gene

Suggested Antigen Peptide Sequences for RSL24D1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for RSL24D1 Gene

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).

Gene Ontology (GO) - Molecular Function for RSL24D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome IEA,IBA --
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

Clone Products

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 5
mitochondrion 2
extracellular 1

Gene Ontology (GO) - Cellular Components for RSL24D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA,IEA --
GO:0005730 nucleolus IDA,IEA --
GO:0005840 ribosome IEA --
GO:0022625 cytosolic large ribosomal subunit IBA --
genes like me logo Genes that share ontologies with RSL24D1: view

Pathways & Interactions for RSL24D1 Gene

SuperPathways for RSL24D1 Gene

SuperPathway Contained pathways
1 Viral mRNA Translation
.56
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 --
GO:0006412 translation IBA,IEA --
GO:0042254 ribosome biogenesis IEA --
GO:1902626 assembly of large subunit precursor of preribosome IBA --
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
Alpha-Hydroxy-Beta-Phenyl-Propionic Acid Experimental Pharma Target 0
Anisomycin Experimental Pharma Target JNK agonist, potent and specific 0
puromycin Experimental Pharma Target 0
genes like me logo Genes that share compounds with RSL24D1: view

Transcripts for RSL24D1 Gene

Unigene Clusters for RSL24D1 Gene

Ribosomal L24 domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
RSL24D1

Expression for RSL24D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for RSL24D1 Gene



Protein tissue co-expression partners for RSL24D1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RSL24D1 Gene:

RSL24D1

SOURCE GeneReport for Unigene cluster for RSL24D1 Gene:

Hs.274772

Evidence on tissue expression from TISSUES for RSL24D1 Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Liver(4.5)
  • Blood(4.3)
  • Bone marrow(4.3)
  • Lymph node(4.3)
  • Spleen(4.3)
  • Skin(3.3)
  • Kidney(2.7)
  • Muscle(2.6)
  • Pancreas(2.3)
genes like me logo Genes that share expression patterns with RSL24D1: view

Primer Products

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 34 35
  • 99.59 (n)
oppossum
(Monodelphis domestica)
Mammalia RSL24D1 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RSL24D1 34 35
  • 92.96 (n)
cow
(Bos Taurus)
Mammalia RSL24D1 34 35
  • 90.95 (n)
mouse
(Mus musculus)
Mammalia Rsl24d1 34 16 35
  • 87.86 (n)
rat
(Rattus norvegicus)
Mammalia Rsl24d1 34
  • 87.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RSL24D1 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC768911 34
  • 80.95 (n)
lizard
(Anolis carolinensis)
Reptilia RSL24D1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rsl24d1 34
  • 79.63 (n)
zebrafish
(Danio rerio)
Actinopterygii rsl24d1 34 35
  • 74.95 (n)
wufa95d02 34
fruit fly
(Drosophila melanogaster)
Insecta RpL24-like 34 35
  • 58.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001545 34
  • 58.02 (n)
worm
(Caenorhabditis elegans)
Secernentea rpl-24.2 34 35
  • 57.68 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RLP24 34 35 37
  • 58.02 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR346W 34
  • 56.31 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E09439g 34
  • 54.45 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G44860 34
  • 59.91 (n)
rice
(Oryza sativa)
Liliopsida Os01g0514000 34
  • 55.28 (n)
Os.2120 34
barley
(Hordeum vulgare)
Liliopsida Hv.3722 34
corn
(Zea mays)
Liliopsida Zm.7161 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8868 35
  • 57 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU05235 34
  • 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 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)

Paralogs for RSL24D1 Gene

No data available for Paralogs for RSL24D1 Gene

Variants for RSL24D1 Gene

Sequence variations from dbSNP and Humsavar for RSL24D1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000007114 -- 55,194,943(+) GCTTA(A/T)GTACA intron-variant
rs1000354723 -- 55,189,111(+) TTGCT(C/T)GAACC intron-variant
rs1000405235 -- 55,191,790(+) TCTTT(C/T)ATATA intron-variant
rs1000419426 -- 55,186,017(+) AAATT(C/T)TCTAG intron-variant
rs1000455958 -- 55,185,619(+) TTCTC(C/T)TTCAC intron-variant

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)

Relevant External Links for RSL24D1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSL24D1 Gene

Disorders for RSL24D1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
diamond-blackfan anemia
  • diamond-blackfan anemia 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RSL24D1

Genetic Association Database (GAD)
RSL24D1
Human Genome Epidemiology (HuGE) Navigator
RSL24D1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RSL24D1
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. (Nat. Genet. 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Sequential protein association with nascent 60S ribosomal particles. (PMID: 12808088) Saveanu C. … Fromont-Racine M. (Mol. Cell. Biol. 2003) 2 3 64
  4. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A. … Diaz J.-J. (Mol. Biol. Cell 2002) 3 4 64
  5. Nog2p, a putative GTPase associated with pre-60S subunits and required for late 60S maturation steps. (PMID: 11707418) Saveanu C. … Fromont-Racine M. (EMBO J. 2001) 2 3 64

Products for RSL24D1 Gene

Sources for RSL24D1 Gene

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