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POP5 POP5 homolog, ribonuclease P/MRP subunit [ Homo sapiens (human) ]

Gene ID: 51367, updated on 5-Mar-2024

Summary

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Official Symbol
POP5provided by HGNC
Official Full Name
POP5 homolog, ribonuclease P/MRP subunitprovided by HGNC
Primary source
HGNC:HGNC:17689
See related
Ensembl:ENSG00000167272 MIM:609992; AllianceGenome:HGNC:17689
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
RPP2; RPP20; hPop5; HSPC004
Summary
Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Located in nucleolus. Part of multimeric ribonuclease P complex and ribonuclease MRP complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal (RPKM 15.3), fat (RPKM 13.2) and 25 other tissues See more
Orthologs
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Genomic context

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See POP5 in Genome Data Viewer
Location:
12q24.31
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (120578764..120581402, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (120567897..120570535, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121016567..121019205, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene coenzyme Q5, methyltransferase Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:120965951-120966721 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:120966722-120967491 Neighboring gene ribosomal protein L29 pseudogene 24 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:120972057-120972210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4954 Neighboring gene uncharacterized LOC128071547 Neighboring gene ring finger protein 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4956 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:121028475-121029374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:121029375-121030273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121034858-121035358 Neighboring gene ribosomal protein L11 pseudogene 5 Neighboring gene CABP1 divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr12:121076316-121076817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4957

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. Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. Welting TJ, et al. Biochim Biophys Acta, 2008 Mar. PMID 18164267
  2. 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
  3. Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex. Welting TJ, et al. Nucleic Acids Res, 2004. PMID 15096576, Free PMC Article
  4. Differential association of protein subunits with the human RNase MRP and RNase P complexes. Welting TJ, et al. RNA, 2006 Jul. PMID 16723659, Free PMC Article
  5. Cryo-EM Structure of the Human Ribonuclease P Holoenzyme. Wu J, et al. Cell, 2018 Nov 15. PMID 30454648

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Molecular mechanism by which Cartilage-hair hypolasia-associated mutations affect the function of RNase MRP.
    Title: Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly.
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

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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae; POP5) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

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

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
ribonuclease P/MRP protein subunit POP5
Names
processing of precursor 5, ribonuclease P/MRP subunit
NP_057002.2
NP_937845.1
XP_011536743.1
XP_054228175.1

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_015918.4 → NP_057002.2  ribonuclease P/MRP protein subunit POP5 isoform a

    See identical proteins and their annotated locations for NP_057002.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer protein (isoform a).
    Source sequence(s)
    AC063943, AJ306296, BI668578
    Consensus CDS
    CCDS9202.1
    UniProtKB/Swiss-Prot
    A6NL80, Q53FS5, Q969H6, Q9Y2Q6
    Related
    ENSP00000350098.4, ENST00000357500.5
    Conserved Domains (1) summary
    pfam01900
    Location:7 → 115
    RNase_P_Rpp14; Rpp14/Pop5 family

  2. NM_198202.2 → NP_937845.1  ribonuclease P/MRP protein subunit POP5 isoform c

    See identical proteins and their annotated locations for NP_937845.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame segment, compared to variant 1, resulting in a shorter protein (isoform c) that has a shorter C-terminus, compared to isoform a.
    Source sequence(s)
    AC063943, AF070660, BI549018, BU155588
    Consensus CDS
    CCDS9203.1
    UniProtKB/Swiss-Prot
    Q969H6
    Related
    ENSP00000341791.2, ENST00000341039.6
    Conserved Domains (1) summary
    cl00605
    Location:7 → 53
    RNase_P_Rpp14; Rpp14/Pop5 family

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    120578764..120581402 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538441.2 → XP_011536743.1  ribonuclease P/MRP protein subunit POP5 isoform X1

    Conserved Domains (1) summary
    pfam01900
    Location:7 → 133
    RNase_P_Rpp14; Rpp14/Pop5 family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    120567897..120570535 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372200.1 → XP_054228175.1  ribonuclease P/MRP protein subunit POP5 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_198201.1: Suppressed sequence

    Description
    NM_198201.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein and it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q969H6.1 GenPept UniProtKB/Swiss-Prot:Q969H6

Gene LinkOut

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