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Aliases for RPP25L Gene

Aliases for RPP25L Gene

  • Ribonuclease P/MRP Subunit P25 Like 2 3 5
  • Ribonuclease P/MRP 25kDa Subunit-Like 2 3
  • RNase P Protein Subunit-Like P25 3 4
  • Rpp25-Like Protein 3 4
  • C9orf23 3 4
  • Ribonuclease P Protein Subunit P25-Like Protein 3
  • Chromosome 9 Open Reading Frame 23 2
  • Alba-Like Protein C9orf23 3
  • BA296L22.5 3

External Ids for RPP25L Gene

Previous HGNC Symbols for RPP25L Gene

  • C9orf23

Summaries for RPP25L Gene

Entrez Gene Summary for RPP25L Gene

  • This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for RPP25L Gene

RPP25L (Ribonuclease P/MRP Subunit P25 Like) is a Protein Coding gene. Among its related pathways are RNA transport and Ribosome biogenesis in eukaryotes. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is RPP25.

UniProtKB/Swiss-Prot for RPP25L Gene

  • May be a component of ribonuclease P or MRP.

Additional gene information for RPP25L Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPP25L Gene

Genomics for RPP25L Gene

GeneHancer (GH) Regulatory Elements for RPP25L Gene

Promoters and enhancers for RPP25L 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
GH09I034610 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 560.6 +0.0 5 2.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 IRF4 ZNF48 YY1 POLR2B RPP25L GALT SIGMAR1 CNTFR
GH09I034662 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11.2 -52.6 -52649 5 HNRNPUL1 PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 POLR2B E2F8 ENSG00000230074 CCL27 ENSG00000261215 LOC730098 GALT ENSG00000228352 RPP25L ENSG00000231393 SIGMAR1
GH09I034619 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 11.8 -8.3 -8273 1.5 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 BRCA1 ZNF48 YY1 ELK1 DCTN3 UBAP2 FAM205A RPP25L C9orf131 ATP8B5P VCP SIGMAR1
GH09I034575 Enhancer 0.8 FANTOM5 ENCODE 22.4 +33.9 33885 5.1 ZFHX2 POLR2A ZNF366 ZNF341 REST EZH2 EGR2 GC09P034579 GC09P034580 GALT RPP25L ENSG00000230074 ENHO FAM219A ENSG00000232983 ARID3C CNTFR
GH09I034987 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.6 -381.2 -381167 10.6 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A YY1 ZNF207 ZNF143 FOS DNAJB5 UBAP2 VCP FANCG PIGO FAM205A C9orf131 ATP8B5P RPP25L FAM205C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RPP25L on UCSC Golden Path with GeneCards custom track

Genomic Locations for RPP25L Gene

Genomic Locations for RPP25L Gene
chr9:34,610,485-34,612,113
(GRCh38/hg38)
Size:
1,629 bases
Orientation:
Minus strand
chr9:34,610,483-34,612,101
(GRCh37/hg19)

Genomic View for RPP25L Gene

Genes around RPP25L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPP25L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPP25L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPP25L Gene

Proteins for RPP25L Gene

  • Protein details for RPP25L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5L8-RP25L_HUMAN
    Recommended name:
    Ribonuclease P protein subunit p25-like protein
    Protein Accession:
    Q8N5L8
    Secondary Accessions:
    • D3DRM5

    Protein attributes for RPP25L Gene

    Size:
    163 amino acids
    Molecular mass:
    17631 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RPP25L Gene

Post-translational modifications for RPP25L Gene

  • Ubiquitination at posLast=8686
  • Modification sites at PhosphoSitePlus

Other Protein References for RPP25L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RPP25L Gene

Domains & Families for RPP25L Gene

Gene Families for RPP25L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RPP25L Gene

Suggested Antigen Peptide Sequences for RPP25L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N5L8

UniProtKB/Swiss-Prot:

RP25L_HUMAN :
  • Belongs to the histone-like Alba family.
Family:
  • Belongs to the histone-like Alba family.
genes like me logo Genes that share domains with RPP25L: view

Function for RPP25L Gene

Molecular function for RPP25L Gene

UniProtKB/Swiss-Prot Function:
May be a component of ribonuclease P or MRP.

Phenotypes From GWAS Catalog for RPP25L Gene

Gene Ontology (GO) - Molecular Function for RPP25L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,HDA 22681889
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RPP25L: view
genes like me logo Genes that share phenotypes with RPP25L: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RPP25L Gene

Localization for RPP25L Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPP25L Gene

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 RPP25L gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RPP25L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with RPP25L: view

Pathways & Interactions for RPP25L Gene

genes like me logo Genes that share pathways with RPP25L: view

Pathways by source for RPP25L Gene

2 KEGG pathways for RPP25L Gene

Gene Ontology (GO) - Biological Process for RPP25L Gene

None

No data available for SIGNOR curated interactions for RPP25L Gene

Drugs & Compounds for RPP25L Gene

No Compound Related Data Available

Transcripts for RPP25L Gene

mRNA/cDNA for RPP25L Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(163) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RPP25L Gene

Ribonuclease P/MRP 25kDa subunit-like:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPP25L Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b
SP1: -
SP2:

Relevant External Links for RPP25L Gene

GeneLoc Exon Structure for
RPP25L
ECgene alternative splicing isoforms for
RPP25L

Expression for RPP25L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPP25L Gene

mRNA differential expression in normal tissues according to GTEx for RPP25L Gene

This gene is overexpressed in Muscle - Skeletal (x4.6).

Protein differential expression in normal tissues from HIPED for RPP25L Gene

This gene is overexpressed in Monocytes (23.0), Lung (20.5), Breast (8.7), and Pancreas (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPP25L Gene



NURSA nuclear receptor signaling pathways regulating expression of RPP25L Gene:

RPP25L

SOURCE GeneReport for Unigene cluster for RPP25L Gene:

Hs.15961

Evidence on tissue expression from TISSUES for RPP25L Gene

  • Skin(4.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with RPP25L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPP25L Gene

Orthologs for RPP25L Gene

This gene was present in the common ancestor of animals.

Orthologs for RPP25L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPP25L 33 34
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
OneToMany
-- 34
  • 95 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rpp25l 33
  • 85.09 (n)
mouse
(Mus musculus)
Mammalia Rpp25l 33 16 34
  • 84.87 (n)
cow
(Bos Taurus)
Mammalia RPP25L 33 34
  • 84.77 (n)
oppossum
(Monodelphis domestica)
Mammalia RPP25L 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPP25L 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves C9ORF23 33
  • 59.66 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 46 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii rpp25l 33
  • 59.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9422 33 34
  • 49.38 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007301 33
  • 46.76 (n)
Species where no ortholog for RPP25L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RPP25L Gene

ENSEMBL:
Gene Tree for RPP25L (if available)
TreeFam:
Gene Tree for RPP25L (if available)

Paralogs for RPP25L Gene

Paralogs for RPP25L Gene

(1) SIMAP similar genes for RPP25L Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RPP25L: view

Variants for RPP25L Gene

Sequence variations from dbSNP and Humsavar for RPP25L Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000505174 -- 34,611,576(-) C/G intron_variant
rs1000743330 -- 34,610,045(-) G/A downstream_transcript_variant
rs1002756597 -- 34,612,953(-) G/A upstream_transcript_variant
rs1003801732 -- 34,613,216(-) G/T upstream_transcript_variant
rs1004324586 -- 34,613,608(-) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RPP25L Gene

Variant ID Type Subtype PubMed ID
dgv12659n54 CNV loss 21841781
esv3620335 CNV gain 21293372
nsv1125318 OTHER inversion 24896259
nsv1161857 CNV deletion 26073780
nsv818699 CNV gain 17921354
nsv831543 CNV loss 17160897

Variation tolerance for RPP25L Gene

Residual Variation Intolerance Score: 30.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPP25L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPP25L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPP25L Gene

Disorders for RPP25L Gene

Additional Disease Information for RPP25L

No disorders were found for RPP25L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RPP25L Gene

Publications for RPP25L Gene

  1. Inventory and analysis of the protein subunits of the ribonucleases P and MRP provides further evidence of homology between the yeast and human enzymes. (PMID: 16998185) Rosenblad MA … Samuelsson T (Nucleic acids research 2006) 2 3 4 58
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  3. 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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for RPP25L Gene

Sources for RPP25L Gene

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