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

Gene ID: 10556, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 4.1), lymph node (RPKM 2.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
10q23.31
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (90871974..90908556)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (91755650..91792233)
105.20220307 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 (86) 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)

Genotypes

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_2023_10

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

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