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Aliases for RPP30 Gene

Aliases for RPP30 Gene

  • Ribonuclease P/MRP Subunit P30 2 3 5
  • Ribonuclease P Protein Subunit P30 2 3
  • Ribonuclease P/MRP 30kDa Subunit 2 3
  • RNaseP Protein P30 3 4
  • RNase P Subunit 2 3 4
  • EC 3.1.26.5 4
  • RNASEP2 4
  • TSG15 3

External Ids for RPP30 Gene

Previous GeneCards Identifiers for RPP30 Gene

  • GC10P091512
  • GC10P091852
  • GC10P092762
  • GC10P092295
  • GC10P092621
  • GC10P086260
  • GC10P092631

Summaries for RPP30 Gene

GeneCards Summary for RPP30 Gene

RPP30 (Ribonuclease P/MRP Subunit P30) is a Protein Coding gene. Diseases associated with RPP30 include Omenn Syndrome. Among its related pathways are Ribosome biogenesis in eukaryotes and rRNA processing in the nucleus and cytosol. GO annotations related to this gene include poly(A) RNA binding and ribonuclease P activity.

UniProtKB/Swiss-Prot for RPP30 Gene

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

Gene Wiki entry for RPP30 Gene

Additional gene information for RPP30 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPP30 Gene

Genomics for RPP30 Gene

Regulatory Elements for RPP30 Gene

Enhancers for RPP30 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
GH10H091607 1.9 FANTOM5 Ensembl ENCODE dbSUPER 59.2 +737.1 737053 2 PKNOX1 ARNT DMAP1 YY1 ZNF766 ZNF416 DEK MCM3 REST ZNF662 HECTD2 RPP30 BTAF1 PPP1R3C FGFBP3 TNKS2-AS1 MARK2P9 TNKS2 HECTD2-AS1 LOC105378433
GH10H091587 2 VISTA Ensembl ENCODE dbSUPER 29.9 +719.5 719504 7 PKNOX1 FOXA2 SIN3A FEZF1 BRCA1 TCF12 ZNF766 GATA2 ZNF548 ATF7 RPP30 BTAF1 HECTD2 TNKS2-AS1 PPP1R3C TNKS2 HECTD2-AS1 LOC105378433
GH10H090136 0.7 ENCODE 32.5 -734.8 -734828 0 KLF17 ZNF324 CBX5 RBAK ZNF547 ZNF416 ZNF143 ZNF391 KLF8 ZNF280D RPP30 KIF20B PIR49337 GC10M090146 GC10M090120
GH10H090911 1.3 Ensembl ENCODE dbSUPER 10.9 +40.5 40513 2 CTCF ZNF146 ZNF792 SAP130 RB1 ZNF837 ZNF133 ZNF384 ZNF2 RAD21 HTR7 RPP30 GC10M090914 PIR41318
GH10H091408 1.1 ENCODE 11.7 +538.7 538715 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 RPP30 ANKRD1 HECTD2 GC10M091340
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RPP30 on UCSC Golden Path with GeneCards custom track

Promoters for RPP30 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000031493 284 1601 ATF1 ARID4B SIN3A BRCA1 YY1 ETS1 ZNF143 RUNX3 SP3 SP5

Transcription factor binding sites by QIAGEN in the RPP30 gene promoter:

Genomic Location for RPP30 Gene

Chromosome:
10
Start:
90,871,716 bp from pter
End:
90,908,558 bp from pter
Size:
36,843 bases
Orientation:
Plus strand

Genomic View for RPP30 Gene

Genes around RPP30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPP30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPP30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPP30 Gene

Proteins for RPP30 Gene

  • Protein details for RPP30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78346-RPP30_HUMAN
    Recommended name:
    Ribonuclease P protein subunit p30
    Protein Accession:
    P78346
    Secondary Accessions:
    • B2R799
    • E9PB02

    Protein attributes for RPP30 Gene

    Size:
    268 amino acids
    Molecular mass:
    29321 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.
    Miscellaneous:
    • Autoantibodies against RPP30 are found in sera from scleroderma patients.

    Alternative splice isoforms for RPP30 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPP30 Gene

Post-translational modifications for RPP30 Gene

  • Ubiquitination at Lys138
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RPP30 Gene

Domains & Families for RPP30 Gene

Gene Families for RPP30 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RPP30 Gene

Suggested Antigen Peptide Sequences for RPP30 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78346

UniProtKB/Swiss-Prot:

RPP30_HUMAN :
  • Belongs to the eukaryotic/archaeal RNase P protein component 3 family.
Family:
  • Belongs to the eukaryotic/archaeal RNase P protein component 3 family.
genes like me logo Genes that share domains with RPP30: view

Function for RPP30 Gene

Molecular function for RPP30 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 RPP30 Gene

Phenotypes From GWAS Catalog for RPP30 Gene

Gene Ontology (GO) - Molecular Function for RPP30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,IBA 22658674
GO:0003824 catalytic activity IEA --
GO:0004526 contributes_to ribonuclease P activity IDA,TAS 16723659
GO:0004540 ribonuclease activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RPP30: view
genes like me logo Genes that share phenotypes with RPP30: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RPP30
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RPP30 Gene

Localization for RPP30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPP30 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 RPP30 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubule ends (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPP30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000172 ribonuclease MRP complex IDA 16723659
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 RPP30: view

Pathways & Interactions for RPP30 Gene

genes like me logo Genes that share pathways with RPP30: view

Gene Ontology (GO) - Biological Process for RPP30 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 IBA --
GO:0090501 RNA phosphodiester bond hydrolysis IEA --
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IBA --
genes like me logo Genes that share ontologies with RPP30: view

No data available for SIGNOR curated interactions for RPP30 Gene

Drugs & Compounds for RPP30 Gene

No Compound Related Data Available

Transcripts for RPP30 Gene

Unigene Clusters for RPP30 Gene

Ribonuclease P/MRP 30kDa subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RPP30
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RPP30 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: - - - - -
SP5: -
SP6: - -
SP7: -
SP8: - - -

Relevant External Links for RPP30 Gene

GeneLoc Exon Structure for
RPP30
ECgene alternative splicing isoforms for
RPP30

Expression for RPP30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPP30 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPP30 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.3) and Fetal testis (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPP30 Gene



Protein tissue co-expression partners for RPP30 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPP30 Gene:

RPP30

SOURCE GeneReport for Unigene cluster for RPP30 Gene:

Hs.139120

Evidence on tissue expression from TISSUES for RPP30 Gene

  • Nervous system(4.3)
  • Kidney(4.2)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with RPP30: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPP30 Gene

Orthologs for RPP30 Gene

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

Orthologs for RPP30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPP30 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia RPP30 33 34
  • 91.23 (n)
cow
(Bos Taurus)
Mammalia RPP30 33 34
  • 91.07 (n)
mouse
(Mus musculus)
Mammalia Rpp30 33 16 34
  • 88.68 (n)
rat
(Rattus norvegicus)
Mammalia Rpp30 33
  • 88.3 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 82 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia RPP30 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPP30 33 34
  • 72.98 (n)
lizard
(Anolis carolinensis)
Reptilia RPP30 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpp30 33
  • 69.81 (n)
Str.6755 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24769 33
zebrafish
(Danio rerio)
Actinopterygii rpp30 33 34
  • 63.6 (n)
Dr.28586 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5477 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008481 33
  • 43.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rpp30 33 34
  • 42.39 (n)
worm
(Caenorhabditis elegans)
Secernentea H35B03.2 34
  • 16 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C14718g 33
  • 44.34 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPP1 33 34 36
  • 41.51 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL046C 33
  • 34.32 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC3A12.04c 33
  • 46.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToOne
Species where no ortholog for RPP30 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPP30 Gene

ENSEMBL:
Gene Tree for RPP30 (if available)
TreeFam:
Gene Tree for RPP30 (if available)

Paralogs for RPP30 Gene

No data available for Paralogs for RPP30 Gene

Variants for RPP30 Gene

Sequence variations from dbSNP and Humsavar for RPP30 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000004952 -- 90,861,207(+) ATAGC(A/G)TCAAG intron-variant
rs1000009013 -- 90,906,572(+) GCATT(G/T)TAGAA intron-variant, utr-variant-3-prime
rs1000079898 -- 90,904,952(+) CAGGT(A/C/G)GATTA intron-variant
rs1000080805 -- 90,883,096(+) ATGGG(C/T)ATCTC intron-variant
rs1000200213 -- 90,886,788(+) GATTA(A/G)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RPP30 Gene

Variant ID Type Subtype PubMed ID
nsv473583 CNV novel sequence insertion 20440878
nsv831945 CNV gain 17160897

Variation tolerance for RPP30 Gene

Residual Variation Intolerance Score: 31.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.11; 38.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPP30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPP30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPP30 Gene

Disorders for RPP30 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RPP30 Gene - From: DISEASES

Disorder Aliases PubMed IDs
omenn syndrome
  • combined immunodeficiency with hypereosinophilia
- elite association - COSMIC cancer census association via MalaCards
Search RPP30 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RPP30

Genetic Association Database (GAD)
RPP30
Human Genome Epidemiology (HuGE) Navigator
RPP30
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPP30
genes like me logo Genes that share disorders with RPP30: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RPP30 Gene

Publications for RPP30 Gene

  1. Characterization of two scleroderma autoimmune antigens that copurify with human ribonuclease P. (PMID: 9037013) Eder PS … Altman S (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 22 60
  2. Rpp1, an essential protein subunit of nuclear RNase P required for processing of precursor tRNA and 35S precursor rRNA in Saccharomyces cerevisiae. (PMID: 9308968) Stolc V … Altman S (Genes & development 1997) 2 3 22 60
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 45 60
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for RPP30 Gene

Sources for RPP30 Gene

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