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    RPP30 ribonuclease P/MRP subunit p30 [ Homo sapiens (human) ]

    Gene ID: 10556, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RPP30provided by HGNC
    Official Full Name
    ribonuclease P/MRP subunit p30provided by HGNC
    Primary source
    HGNC:HGNC:17688
    See related
    Ensembl:ENSG00000148688 MIM:606115; AllianceGenome:HGNC:17688
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TSG15
    Summary
    Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Part of multimeric ribonuclease P complex and ribonuclease MRP complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 4.1), lymph node (RPKM 2.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RPP30 in Genome Data Viewer
    Location:
    10q23.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (90871974..90908556)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (91755650..91792233)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (92631731..92668313)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3755 Neighboring gene 5-hydroxytryptamine receptor 7 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:92564844-92565562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2601 Neighboring gene Sharpr-MPRA regulatory region 7939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3757 Neighboring gene RNA, U6 small nuclear 740, pseudogene Neighboring gene ankyrin repeat domain 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. RPP30, a transcriptional regulator, is a potential pathogenic factor in glioblastoma. Li G, et al. Aging (Albany NY), 2020 Jul 23. PMID 32702667, Free PMC Article
    2. Rpp1, an essential protein subunit of nuclear RNase P required for processing of precursor tRNA and 35S precursor rRNA in Saccharomyces cerevisiae. Stolc V, et al. Genes Dev, 1997 Sep 15. PMID 9308968, Free PMC Article
    3. On archaeal homologs of the human RNase P proteins Pop5 and Rpp30 in the hyperthermophilic archaeon Thermococcus kodakarensis. Suematsu K, et al. Biosci Biotechnol Biochem, 2015. PMID 25704799
    4. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Wimplinger I, et al. Am J Hum Genet, 2006 Nov. PMID 17033964, Free PMC Article
    5. Endoribonucleolytic Cleavage of m(6)A-Containing RNAs by RNase P/MRP Complex. Park OH, et al. Mol Cell, 2019 May 2. PMID 30930054

    See all (100) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RPP30, a transcriptional regulator, is a potential pathogenic factor in glioblastoma.
      Title: RPP30, a transcriptional regulator, is a potential pathogenic factor in glioblastoma.
    2. We also find that a subset of m(6)A-containing circular RNAs associates with YTHDF2 in an HRSP12-dependent manner and is selectively downregulated by RNase P/MRP.
      Title: Endoribonucleolytic Cleavage of m(6)A-Containing RNAs by RNase P/MRP Complex.
    3. archaeal homologs of the human RNase P proteins Pop5 and Rpp30
      Title: On archaeal homologs of the human RNase P proteins Pop5 and Rpp30 in the hyperthermophilic archaeon Thermococcus kodakarensis.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    The genetic architecture of economic and political preferences.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38491

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribonuclease P RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to ribonuclease P activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in rRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tRNA 5'-leader removal IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of multimeric ribonuclease P complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nucleolar ribonuclease P complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of ribonuclease MRP complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ribonuclease P protein subunit p30
    Names
    RNase P subunit 2
    RNaseP protein p30
    ribonuclease P/MRP 30kDa subunit
    NP_001098016.1
    NP_006404.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001104546.2 → NP_001098016.1  ribonuclease P protein subunit p30 isoform a

      See identical proteins and their annotated locations for NP_001098016.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK095810, AL590622, BC044601, BM978236, DB049454, U77665
      Consensus CDS
      CCDS44458.1
      UniProtKB/Swiss-Prot
      P78346
      Related
      ENSP00000389182.1, ENST00000413330.5
      Conserved Domains (2) summary
      pfam01876
      Location:21 → 224
      RNase_P_p30; RNase P subunit p30
      pfam13900
      Location:270 → 299
      GVQW; Putative domain of unknown function

    2. NM_006413.5 → NP_006404.1  ribonuclease P protein subunit p30 isoform b

      See identical proteins and their annotated locations for NP_006404.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR, which results in a frameshift, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AL590622, AL833628, DB049454, U77665
      Consensus CDS
      CCDS7411.1
      UniProtKB/Swiss-Prot
      B2R799, E9PB02, P78346
      UniProtKB/TrEMBL
      Q5VU11
      Related
      ENSP00000360768.3, ENST00000371703.8
      Conserved Domains (1) summary
      pfam01876
      Location:21 → 224
      RNase_P_p30; RNase P subunit p30

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      90871974..90908556
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      91755650..91792233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P78346.1 GenPept UniProtKB/Swiss-Prot:P78346

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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