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    RPP21 ribonuclease P/MRP subunit p21 [ Homo sapiens (human) ]

    Gene ID: 79897, updated on 9-Dec-2024

    Summary

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    Official Symbol
    RPP21provided by HGNC
    Official Full Name
    ribonuclease P/MRP subunit p21provided by HGNC
    Primary source
    HGNC:HGNC:21300
    See related
    Ensembl:ENSG00000241370 MIM:612524; AllianceGenome:HGNC:21300
    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
    CAT60; C6orf135
    Summary
    RPP21 is a protein subunit of nuclear ribonuclease P, which processes the 5-prime leader sequence of precursor tRNAs (Jarrous et al., 2001 [PubMed 11497433]).[supplied by OMIM, Jan 2009]
    Expression
    Ubiquitous expression in endometrium (RPKM 10.7), ovary (RPKM 10.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RPP21 in Genome Data Viewer
    Location:
    6p22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (30345156..30346857)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30209367..30211068)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30312933..30314634)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene HLA complex group 17 Neighboring gene MPRA-validated peak5750 silencer Neighboring gene major histocompatibility complex, class I, L (pseudogene) Neighboring gene HLA complex group 18 Neighboring gene MPRA-validated peak5752 silencer Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:30292740-30293383 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:30296621-30297820 Neighboring gene TRIM39-RPP21 readthrough Neighboring gene tripartite motif containing 39 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:30308084-30309283 Neighboring gene NANOG hESC enhancer GRCh37_chr6:30323175-30323676 Neighboring gene major histocompatibility complex, class I, N (pseudogene) Neighboring gene ubiquilin 1 pseudogene 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. Function and subnuclear distribution of Rpp21, a protein subunit of the human ribonucleoprotein ribonuclease P. Jarrous N, et al. RNA, 2001 Aug. PMID 11497433, Free PMC Article
    2. A role of human RNase P subunits, Rpp29 and Rpp21, in homology directed-repair of double-strand breaks. Abu-Zhayia ER, et al. Sci Rep, 2017 Apr 21. PMID 28432356, Free PMC Article
    3. cGMP-dependent protein kinase I interacts with TRIM39R, a novel Rpp21 domain-containing TRIM protein. Roberts JD Jr, et al. Am J Physiol Lung Cell Mol Physiol, 2007 Oct. PMID 17601797
    4. Protein-RNA interactions in the subunits of human nuclear RNase P. Jiang T, et al. RNA, 2001 Jul. PMID 11455963, Free PMC Article
    5. Sulindac suppresses beta-catenin expression in human cancer cells. Han A, et al. Eur J Pharmacol, 2008 Mar 31. PMID 18291362, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    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

    Readthrough TRIM39-RPP21

    Readthrough gene: TRIM39-RPP21, Included gene: TRIM39

    Homology

    Clone Names

    • FLJ22638

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    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 response to xenobiotic stimulus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    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
    		  

    General protein information

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    Preferred Names
    ribonuclease P protein subunit p21
    Names
    RNaseP protein p21
    ribonuclease P/MRP 21kDa subunit
    ribonucleoprotein V
    NP_001186049.1
    NP_001186050.1
    NP_079115.1

    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_001199120.3 → NP_001186049.1  ribonuclease P protein subunit p21 isoform 1

      See identical proteins and their annotated locations for NP_001186049.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AJ504713, BG708140, BI598757, DA270919
      Consensus CDS
      CCDS56409.1
      UniProtKB/TrEMBL
      A0A0G2JIT5, A0A140T9R9, A0A1U9X8H1, A0A1U9X8H3
      Related
      ENSP00000409799.2, ENST00000433076.6
      Conserved Domains (1) summary
      pfam04032
      Location:13 → 103
      Rpr2; RNAse P Rpr2/Rpp21/SNM1 subunit domain

    2. NM_001199121.3 → NP_001186050.1  ribonuclease P protein subunit p21 isoform 3

      See identical proteins and their annotated locations for NP_001186050.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, and an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AJ504716, BG708140, DA270919
      Consensus CDS
      CCDS56410.1
      UniProtKB/TrEMBL
      A0A0G2JJY3
      Related
      ENSP00000397778.2, ENST00000436442.2
      Conserved Domains (1) summary
      pfam04032
      Location:13 → 96
      Rpr2; RNAse P Rpr2/Rpp21/SNM1 subunit domain

    3. NM_024839.4 → NP_079115.1  ribonuclease P protein subunit p21 isoform 2

      See identical proteins and their annotated locations for NP_079115.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AJ504713, BG708140, DA270919
      Consensus CDS
      CCDS4679.1
      UniProtKB/Swiss-Prot
      A2AAZ8, B0S834, B0S835, Q5JPL9, Q5JPM1, Q5STF8, Q5STF9, Q5STG2, Q5SU41, Q5SU42, Q86Y49, Q86Y50, Q86Y51, Q96F16, Q9H633
      UniProtKB/TrEMBL
      A0A0G2JJ26
      Related
      ENSP00000403833.2, ENST00000442966.7
      Conserved Domains (1) summary
      pfam04032
      Location:13 → 96
      Rpr2; RNAse P Rpr2/Rpp21/SNM1 subunit domain

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      30345156..30346857
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1674652..1676353
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      1824837..1826538
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      1601002..1602703
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      1655390..1657091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      1600238..1601939
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      1643613..1645314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      30209367..30211068
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H633.1 GenPept UniProtKB/Swiss-Prot:Q9H633

    Gene LinkOut

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