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

    Gene ID: 51367, updated on 10-Dec-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, Dec 2024]
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (120578764..120581402, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (120567897..120570535, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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. hPop5, a protein subunit of the human RNase MRP and RNase P endoribonucleases. van Eenennaam H, et al. J Biol Chem, 2001 Aug 24. PMID 11413139
    4. Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex. Welting TJ, et al. Nucleic Acids Res, 2004. PMID 15096576, Free PMC Article
    5. 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

    See all (29) 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)

    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_2024_08

    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

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

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