Aliases for RSL1D1 Gene

Aliases for RSL1D1 Gene

  • Ribosomal L1 Domain Containing 1 2 3 5
  • CSIG 2 3 4
  • PBK1 2 3 4
  • Cellular Senescence-Inhibited Gene Protein 3 4
  • Ribosomal L1 Domain-Containing Protein 1 3 4
  • CATX-11 3 4
  • UTP30 2 3
  • L12 2 3
  • DKFZP564M182 2
  • Protein PBK1 4
  • RSL1D1 5
  • CATX11 4

External Ids for RSL1D1 Gene

Previous GeneCards Identifiers for RSL1D1 Gene

  • GC16M011839
  • GC16M011929
  • GC16M011844
  • GC16M011930
  • GC16M011931
  • GC16M011933
  • GC16M011934

Summaries for RSL1D1 Gene

GeneCards Summary for RSL1D1 Gene

RSL1D1 (Ribosomal L1 Domain Containing 1) is a Protein Coding gene. Diseases associated with RSL1D1 include Bowen-Conradi Syndrome. Among its related pathways are Senescence and Autophagy in Cancer. Gene Ontology (GO) annotations related to this gene include RNA binding. An important paralog of this gene is RPL7A.

UniProtKB/Swiss-Prot Summary for RSL1D1 Gene

  • Regulates cellular senescence through inhibition of PTEN translation. Acts as a pro-apoptotic regulator in response to DNA damage.

Gene Wiki entry for RSL1D1 Gene

Additional gene information for RSL1D1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RSL1D1 Gene

Genomics for RSL1D1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RSL1D1 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
GH16J011850 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 610.6 0.0 -21 3.2 SP1 HNRNPL CREB1 ATF7 PRDM10 REST ZNF629 TFE3 NFKBIZ POLR2A ENSG00000263307 RSL1D1 LOC105371084 RF00017-1971 lnc-GSPT1-2 ENSG00000261560 HNRNPCP4 SOCS1 COX6CP1 ENSG00000261216
GH16J011913 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 25.1 -63.7 -63689 4.9 SP1 CREB1 GATAD2A PRDM10 ZNF629 TFE3 ZNF512 SIX5 SOX13 IKZF1 GSPT1 LOC112268177 piR-37519 lnc-NPIPB2-4 ENSG00000263307 ENSG00000261560 HNRNPCP4 NPIPB2 SOCS1 RSL1D1
GH16J011251 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 21.9 +597.0 596951 6.8 SP1 HNRNPL GATAD2A CTCF ZBTB33 ZNF629 IKZF1 ZNF692 POLR2A ZNF7 SOCS1 lnc-CLEC16A-8 ENSG00000261560 ENSG00000263307 RMI2 ZC3H7A HNRNPCP4 RSL1D1 COX6CP1 ENSG00000261216
GH16J011344 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13.8 +505.9 505879 3 SP1 CREB1 GATAD2A PRDM10 TFE3 IKZF1 NFKBIZ ZNF692 NFRKB RCOR2 RMI2 LOC105371083 RSL1D1 ENSG00000263307 GSPT1 ZC3H7A ENSG00000261560 ENSG00000262703 PRM1 LOC105371082
GH16J011667 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 +181.3 181310 6.9 SP1 HNRNPL GATAD2A KDM1A POLR2A BACH1 ETV6 LARP7 MTA2 ZNF143 SNN ZC3H7A TXNDC11 LITAF ENSG00000263307 ENSG00000261560 HNRNPCP4 RSL1D1 COX6CP1 SNX29
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RSL1D1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RSL1D1

Top Transcription factor binding sites by QIAGEN in the RSL1D1 gene promoter:
  • AREB6
  • Elk-1
  • FOXD1
  • GR
  • GR-alpha
  • GR-beta
  • ISGF-3
  • RFX1
  • Sox5
  • STAT1

Genomic Locations for RSL1D1 Gene

Genomic Locations for RSL1D1 Gene
chr16:11,833,850-11,851,580
(GRCh38/hg38)
Size:
17,731 bases
Orientation:
Minus strand
chr16:11,928,053-11,945,442
(GRCh37/hg19)
Size:
17,390 bases
Orientation:
Minus strand

Genomic View for RSL1D1 Gene

Genes around RSL1D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSL1D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSL1D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSL1D1 Gene

Proteins for RSL1D1 Gene

  • Protein details for RSL1D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76021-RL1D1_HUMAN
    Recommended name:
    Ribosomal L1 domain-containing protein 1
    Protein Accession:
    O76021
    Secondary Accessions:
    • B4DJ58
    • D3DUG7
    • Q2M1T7
    • Q6PL22
    • Q8IWS7
    • Q8WUZ1
    • Q9HDA9
    • Q9Y3Z9

    Protein attributes for RSL1D1 Gene

    Size:
    490 amino acids
    Molecular mass:
    54973 Da
    Quaternary structure:
    • Interacts with ING1 (isoform 2).
    SequenceCaution:
    • Sequence=AAF98239.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH19069.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA07491.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for RSL1D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSL1D1 Gene

Post-translational modifications for RSL1D1 Gene

  • Ubiquitination at Lys188
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RSL1D1 Gene

Domains & Families for RSL1D1 Gene

Gene Families for RSL1D1 Gene

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

Protein Domains for RSL1D1 Gene

Suggested Antigen Peptide Sequences for RSL1D1 Gene

GenScript: Design optimal peptide antigens:
  • RSL1D1 protein (A0PJ61_HUMAN)
  • RSL1D1 protein (A0PJ87_HUMAN)
  • cDNA FLJ52304, highly similar to Ribosomal L1 domain-containing protein 1 (B4DJ58_HUMAN)
  • RSL1D1 protein (Q32Q62_HUMAN)
  • Protein PBK1 (RL1D1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O76021

UniProtKB/Swiss-Prot:

RL1D1_HUMAN :
  • Belongs to the universal ribosomal protein uL1 family. Highly divergent.
Family:
  • Belongs to the universal ribosomal protein uL1 family. Highly divergent.
genes like me logo Genes that share domains with RSL1D1: view

Function for RSL1D1 Gene

Molecular function for RSL1D1 Gene

UniProtKB/Swiss-Prot Function:
Regulates cellular senescence through inhibition of PTEN translation. Acts as a pro-apoptotic regulator in response to DNA damage.
UniProtKB/Swiss-Prot Induction:
Down-regulated during cellular senescence.

Phenotypes From GWAS Catalog for RSL1D1 Gene

Gene Ontology (GO) - Molecular Function for RSL1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IBA 21873635
GO:0003730 mRNA 3'-UTR binding IDA 16213212
GO:0045296 cadherin binding HDA 25468996
GO:0048027 mRNA 5'-UTR binding IDA 16213212
genes like me logo Genes that share ontologies with RSL1D1: view
genes like me logo Genes that share phenotypes with RSL1D1: view

Animal Model Products

CRISPR Products

miRNA for RSL1D1 Gene

miRTarBase miRNAs that target RSL1D1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RSL1D1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RSL1D1 Gene

Localization for RSL1D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSL1D1 Gene

Nucleus, nucleolus. Note=Colocalizes with ING1 in the nucleolus after UV stress. {ECO:0000269 PubMed:22419112}.

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 RSL1D1 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RSL1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA 18678645
GO:0016020 membrane HDA 16210410
GO:0030686 90S preribosome IBA 21873635
genes like me logo Genes that share ontologies with RSL1D1: view

Pathways & Interactions for RSL1D1 Gene

PathCards logo

SuperPathways for RSL1D1 Gene

genes like me logo Genes that share pathways with RSL1D1: view

Pathways by source for RSL1D1 Gene

1 BioSystems pathway for RSL1D1 Gene

Gene Ontology (GO) - Biological Process for RSL1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000470 maturation of LSU-rRNA IBA 21873635
GO:0001649 osteoblast differentiation HDA 16210410
GO:0032880 regulation of protein localization IMP 17158916
GO:0042981 regulation of apoptotic process IDA 18678645
GO:2000772 regulation of cellular senescence IDA 18678645
genes like me logo Genes that share ontologies with RSL1D1: view

No data available for SIGNOR curated interactions for RSL1D1 Gene

Drugs & Compounds for RSL1D1 Gene

No Compound Related Data Available

Transcripts for RSL1D1 Gene

mRNA/cDNA for RSL1D1 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
12 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 RSL1D1

Alternative Splicing Database (ASD) splice patterns (SP) for RSL1D1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1: - -
SP2: - - - - - - -
SP3:
SP4:

Relevant External Links for RSL1D1 Gene

GeneLoc Exon Structure for
RSL1D1

Expression for RSL1D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RSL1D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RSL1D1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RSL1D1 Gene



Protein tissue co-expression partners for RSL1D1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RSL1D1

SOURCE GeneReport for Unigene cluster for RSL1D1 Gene:

Hs.401842

mRNA Expression by UniProt/SwissProt for RSL1D1 Gene:

O76021-RL1D1_HUMAN
Tissue specificity: Expressed at high intensities in the heart, skeletal muscle, and placenta.

Evidence on tissue expression from TISSUES for RSL1D1 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Blood(4.5)
  • Lung(4.5)
  • Intestine(4.5)
  • Skin(2.9)
  • Eye(2.6)
  • Kidney(2.4)
  • Heart(2.3)
  • Muscle(2.2)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with RSL1D1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RSL1D1 Gene

Orthologs for RSL1D1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RSL1D1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RSL1D1 30 31
  • 99.25 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RSL1D1 30 31
  • 78.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RSL1D1 30 31
  • 75.07 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rsl1d1 30 17 31
  • 70.21 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC102552945 30
  • 68.97 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 45 (a)
OneToMany
-- 31
  • 37 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia RSL1D1 31
  • 43 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RSL1D1 30 31
  • 56.24 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rsl1d1 30
  • 55.25 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-16i5.10 30
  • 54 (n)
RSL1D1 31
  • 35 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG13096 31
  • 13 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F53F4.11 31
  • 13 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP30 33
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10596 31
  • 25 (a)
OneToOne
Species where no ortholog for RSL1D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • 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 (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RSL1D1 Gene

ENSEMBL:
Gene Tree for RSL1D1 (if available)
TreeFam:
Gene Tree for RSL1D1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RSL1D1: view image

Paralogs for RSL1D1 Gene

Paralogs for RSL1D1 Gene

Pseudogenes.org Pseudogenes for RSL1D1 Gene

genes like me logo Genes that share paralogs with RSL1D1: view

Variants for RSL1D1 Gene

Additional dbSNP identifiers (rs#s) for RSL1D1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RSL1D1 Gene

Variant ID Type Subtype PubMed ID
esv3637942 CNV gain 21293372
nsv1043909 CNV gain 25217958
nsv1120318 CNV tandem duplication 24896259
nsv571458 CNV gain 21841781

Variation tolerance for RSL1D1 Gene

Residual Variation Intolerance Score: 82.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.13; 38.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RSL1D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSL1D1

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 RSL1D1 Gene

Disorders for RSL1D1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RSL1D1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bowen-conradi syndrome
  • bwcns
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RSL1D1

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 RSL1D1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RSL1D1 Gene

Publications for RSL1D1 Gene

  1. CSIG inhibits PTEN translation in replicative senescence. (PMID: 18678645) Ma L … Tong T (Molecular and cellular biology 2008) 3 4 23
  2. Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer. (PMID: 15334068) Petroziello J … Carter P (Oncogene 2004) 2 3 4
  3. Identification of differentially expressed genes in human trophoblast cells by differential-display RT-PCR. (PMID: 9859858) Huch G … Denker HW (Placenta 1998) 2 3 4
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4

Products for RSL1D1 Gene

Sources for RSL1D1 Gene