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Aliases for RPP40 Gene

Aliases for RPP40 Gene

  • Ribonuclease P/MRP Subunit P40 2 3 5
  • Ribonuclease P/MRP 40kDa Subunit 2 3
  • RNaseP Protein P40 3 4
  • RNase P Subunit 1 3 4
  • Ribonuclease P1 2 3
  • EC 3.1.26.5 4 61
  • RNASEP1 3 4
  • Ribonuclease P Protein Subunit P40 3
  • Ribonuclease P 40kDa Subunit 2
  • Ribonuclease P, 40kD Subunit 3
  • Ribonuclease P (40 KD) 3
  • BA428J1.3 3

External Ids for RPP40 Gene

Previous HGNC Symbols for RPP40 Gene

  • RNASEP1

Previous GeneCards Identifiers for RPP40 Gene

  • GC06M004980
  • GC06M004941
  • GC06M004942

Summaries for RPP40 Gene

GeneCards Summary for RPP40 Gene

RPP40 (Ribonuclease P/MRP Subunit P40) is a Protein Coding gene. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. GO annotations related to this gene include ribonuclease P activity.

UniProtKB/Swiss-Prot for RPP40 Gene

  • Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5-ends.

Gene Wiki entry for RPP40 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPP40 Gene

Genomics for RPP40 Gene

Regulatory Elements for RPP40 Gene

Enhancers for RPP40 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
GH06G004973 0.9 Ensembl ENCODE 27.5 +29.6 29584 2.0 ZNF680 RBBP5 REST ATF2 ZNF335 POLR2A KLF16 ZFP3 ZNF600 ZBTB17 RPP40 LYRM4-AS1 ENSG00000271978 RPS18P8 GC06M004961
GH06G005003 1.1 ENCODE 15 -0.1 -104 2.1 HDGF CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 RPP40 LYRM4-AS1 ENSG00000271978 GC06P005005
GH06G004984 1 ENCODE 15.7 +19.3 19273 1.0 HDGF PKNOX1 ATF1 ARNT TCF12 CBX5 FOS KLF13 JUNB NCOA1 RPP40 ENSG00000271978 GC06M004979 GC06P004993
GH06G005025 1.1 Ensembl ENCODE 12.2 -22.2 -22183 1.5 TBP PKNOX1 ZNF76 KLF17 ZNF48 YY1 ZNF335 GLIS2 ZNF366 REST ENSG00000271978 RPP40 GC06M005033 GC06P005005
GH06G005036 0.9 Ensembl ENCODE 11.4 -32.3 -32338 0.4 CTCF TFAP4 CBX3 SAP130 MAX MNT RAD21 TEAD3 ZNF335 POLR2A ENSG00000271978 RPP40 GC06M005033 GC06M005047
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RPP40 on UCSC Golden Path with GeneCards custom track

Promoters for RPP40 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000192489 163 1401 HDGF CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766

Genomic Location for RPP40 Gene

Chromosome:
6
Start:
4,992,414 bp from pter
End:
5,004,063 bp from pter
Size:
11,650 bases
Orientation:
Minus strand

Genomic View for RPP40 Gene

Genes around RPP40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPP40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPP40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPP40 Gene

Proteins for RPP40 Gene

  • Protein details for RPP40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75818-RPP40_HUMAN
    Recommended name:
    Ribonuclease P protein subunit p40
    Protein Accession:
    O75818
    Secondary Accessions:
    • Q5VX97
    • Q8WVK8

    Protein attributes for RPP40 Gene

    Size:
    363 amino acids
    Molecular mass:
    41834 Da
    Quaternary structure:
    • RNase P consists of an RNA moiety and at least 8 protein subunits; POP1, RPP14, RPP20/POP7, RPP25, RPP29/POP4, RPP30, RPP38 and RPP40.
    SequenceCaution:
    • Sequence=AAC24114.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH17871.1; Type=Frameshift; Positions=327; Evidence={ECO:0000305}; Sequence=CAH73740.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RPP40 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPP40 Gene

Selected DME Specific Peptides for RPP40 Gene

O75818:
  • FKEKKPLKFDFLLAWH
  • IDEDNTVALLPNGKLILSLDKDTYEETGLQG
  • DYWLQMAVGA

Post-translational modifications for RPP40 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for RPP40 Gene

Protein Domains for RPP40 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RPP40 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RPP40: view

No data available for Gene Families and UniProtKB/Swiss-Prot for RPP40 Gene

Function for RPP40 Gene

Molecular function for RPP40 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Endonucleolytic cleavage of RNA, removing 5-extranucleotides from tRNA precursor.
UniProtKB/Swiss-Prot Function:
Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5-ends.

Enzyme Numbers (IUBMB) for RPP40 Gene

Gene Ontology (GO) - Molecular Function for RPP40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004526 ribonuclease P activity TAS,IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with RPP40: view
genes like me logo Genes that share phenotypes with RPP40: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RPP40 Gene

Localization for RPP40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPP40 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 RPP40 gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RPP40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 9630247
GO:0005654 nucleoplasm TAS --
GO:0005655 nucleolar ribonuclease P complex TAS 9630247
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with RPP40: view

Pathways & Interactions for RPP40 Gene

genes like me logo Genes that share pathways with RPP40: view

Gene Ontology (GO) - Biological Process for RPP40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001682 tRNA 5-leader removal TAS --
GO:0006364 rRNA processing TAS --
GO:0008033 tRNA processing IEA --
GO:0090501 RNA phosphodiester bond hydrolysis IEA --
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA --
genes like me logo Genes that share ontologies with RPP40: view

No data available for SIGNOR curated interactions for RPP40 Gene

Drugs & Compounds for RPP40 Gene

No Compound Related Data Available

Transcripts for RPP40 Gene

Unigene Clusters for RPP40 Gene

Ribonuclease P/MRP 40kDa subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPP40 Gene

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

Relevant External Links for RPP40 Gene

GeneLoc Exon Structure for
RPP40
ECgene alternative splicing isoforms for
RPP40

Expression for RPP40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPP40 Gene

Protein differential expression in normal tissues from HIPED for RPP40 Gene

This gene is overexpressed in Breast (47.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPP40 Gene



Protein tissue co-expression partners for RPP40 Gene

NURSA nuclear receptor signaling pathways regulating expression of RPP40 Gene:

RPP40

SOURCE GeneReport for Unigene cluster for RPP40 Gene:

Hs.511756

Evidence on tissue expression from TISSUES for RPP40 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with RPP40: 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 RPP40 Gene

Orthologs for RPP40 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RPP40 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPP40 34 35
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia RPP40 34 35
  • 86.96 (n)
mouse
(Mus musculus)
Mammalia Rpp40 34 16 35
  • 84.57 (n)
rat
(Rattus norvegicus)
Mammalia Rpp40 34
  • 84.16 (n)
cow
(Bos Taurus)
Mammalia RPP40 34 35
  • 83.29 (n)
oppossum
(Monodelphis domestica)
Mammalia RPP40 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPP40 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPP40 34 35
  • 69.54 (n)
lizard
(Anolis carolinensis)
Reptilia RPP40 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpp40 34
  • 64.06 (n)
Str.102 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7016 34
zebrafish
(Danio rerio)
Actinopterygii rpp40 34 35
  • 58.52 (n)
Species where no ortholog for RPP40 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RPP40 Gene

ENSEMBL:
Gene Tree for RPP40 (if available)
TreeFam:
Gene Tree for RPP40 (if available)

Paralogs for RPP40 Gene

genes like me logo Genes that share paralogs with RPP40: view

No data available for Paralogs for RPP40 Gene

Variants for RPP40 Gene

Sequence variations from dbSNP and Humsavar for RPP40 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000347581 -- 5,001,508(+) TACAG(A/G)TGAGT intron-variant
rs1000413680 -- 4,995,440(+) GATGT(C/T)ACACT intron-variant
rs1000478719 -- 4,994,625(+) TGTAT(G/T)TACAC intron-variant
rs1000818182 -- 4,995,006(+) ACACA(C/G)AGACC intron-variant
rs1001360277 -- 5,002,970(+) TTAAA(C/G)TGTAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for RPP40 Gene

Variant ID Type Subtype PubMed ID
esv2422499 CNV duplication 17116639
esv2668988 CNV deletion 23128226
esv3607963 CNV loss 21293372
nsv1033905 CNV gain 25217958
nsv462622 CNV gain 19166990
nsv600871 CNV gain 21841781
nsv600872 CNV gain 21841781
nsv830577 CNV loss 17160897

Variation tolerance for RPP40 Gene

Residual Variation Intolerance Score: 88.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.85; 73.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPP40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPP40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPP40 Gene

Disorders for RPP40 Gene

Relevant External Links for RPP40

Genetic Association Database (GAD)
RPP40
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPP40

No disorders were found for RPP40 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RPP40 Gene

Publications for RPP40 Gene

  1. Autoantigenic properties of some protein subunits of catalytically active complexes of human ribonuclease P. (PMID: 9630247) Jarrous N. … Altman S. (RNA 1998) 2 3 4 22 64
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  3. Identification and characterization of essential genes in the human genome. (PMID: 26472758) Wang T. … Sabatini D.M. (Science 2015) 3 64
  4. A high-throughput approach for measuring temporal changes in the interactome. (PMID: 22863883) Kristensen A.R. … Foster L.J. (Nat. Methods 2012) 3 64
  5. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3 64

Products for RPP40 Gene

Sources for RPP40 Gene

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