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    RPP38 ribonuclease P/MRP subunit p38 [ Homo sapiens (human) ]

    Gene ID: 10557, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RPP38provided by HGNC
    Official Full Name
    ribonuclease P/MRP subunit p38provided by HGNC
    Primary source
    HGNC:HGNC:30329
    See related
    Ensembl:ENSG00000152464 MIM:606116; AllianceGenome:HGNC:30329
    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
    Summary
    Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Located in fibrillar center. Part of multimeric ribonuclease P complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 13.4), lymph node (RPKM 4.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RPP38 in Genome Data Viewer
    Location:
    10p13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (15097355..15104257)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (15111088..15118231)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (15139354..15146256)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:15138899-15139470 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 45 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3091 Neighboring gene RPP38 divergent transcript Neighboring gene uncharacterized LOC105376431 Neighboring gene N-myristoyltransferase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3093 Neighboring gene uncharacterized LOC107984210

    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. Structural basis for recognition of a kink-turn motif by an archaeal homologue of human RNase P protein Rpp38. Oshima K, et al. Biochem Biophys Res Commun, 2016 Jun 3. PMID 27114305
    2. Protein-RNA interactions in the subunits of human nuclear RNase P. Jiang T, et al. RNA, 2001 Jul. PMID 11455963, Free PMC Article
    3. Localization in the nucleolus and coiled bodies of protein subunits of the ribonucleoprotein ribonuclease P. Jarrous N, et al. J Cell Biol, 1999 Aug 9. PMID 10444065, Free PMC Article
    4. Autoantigenic properties of some protein subunits of catalytically active complexes of human ribonuclease P. Jarrous N, et al. RNA, 1998 Apr. PMID 9630247, Free PMC Article
    5. Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex. Welting TJ, et al. Nucleic Acids Res, 2004. PMID 15096576, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A pull-down assay further suggested the presence of a second K-turn in SL12. Based on the present results, together with available data, we discuss a structural basis for recognition of K-turn motifs in PhopRNA by PhoRpp38.
      Title: Structural basis for recognition of a kink-turn motif by an archaeal homologue of human RNase P protein Rpp38.
    2. 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
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    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

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    is_active_in fibrillar center IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    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
    		  
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ribonuclease P protein subunit p38
    Names
    RNaseP protein p38
    ribonuclease P/MRP 38kDa subunit
    NP_001091059.1
    NP_001252530.1
    NP_006405.2
    NP_892117.1
    XP_006717426.1
    XP_006717427.1
    XP_011517595.1
    XP_016870968.1
    XP_016870969.1
    XP_016870970.1
    XP_054220467.1
    XP_054220468.1
    XP_054220469.1
    XP_054220470.1
    XP_054220471.1
    XP_054220472.1

    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_001097590.3 → NP_001091059.1  ribonuclease P protein subunit p38

      See identical proteins and their annotated locations for NP_001091059.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AW292674, BC029494, CX872398
      Consensus CDS
      CCDS7108.1
      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8
      Related
      ENSP00000367445.1, ENST00000378203.5
      Conserved Domains (1) summary
      pfam01248
      Location:107 → 185
      Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

    2. NM_001265601.2 → NP_001252530.1  ribonuclease P protein subunit p38

      See identical proteins and their annotated locations for NP_001252530.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AW292674, BC029494, BU180901, BU197354
      Consensus CDS
      CCDS7108.1
      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8
      Related
      ENSP00000478982.1, ENST00000616640.1
      Conserved Domains (1) summary
      pfam01248
      Location:107 → 185
      Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

    3. NM_006414.5 → NP_006405.2  ribonuclease P protein subunit p38

      See identical proteins and their annotated locations for NP_006405.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AW292674, BC029494, BP247818
      Consensus CDS
      CCDS7108.1
      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8
      Related
      ENSP00000367444.5, ENST00000378202.5
      Conserved Domains (1) summary
      pfam01248
      Location:107 → 185
      Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

    4. NM_183005.5 → NP_892117.1  ribonuclease P protein subunit p38

      See identical proteins and their annotated locations for NP_892117.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All variants encode the same protein.
      Source sequence(s)
      AW292674, BC029494, BU197354
      Consensus CDS
      CCDS7108.1
      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8
      Related
      ENSP00000367439.4, ENST00000378197.5
      Conserved Domains (1) summary
      pfam01248
      Location:107 → 185
      Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      15097355..15104257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015479.3 → XP_016870968.1  ribonuclease P protein subunit p38 isoform X1

      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8
      Conserved Domains (1) summary
      pfam01248
      Location:107 → 185
      Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

    2. XM_017015481.3 → XP_016870970.1  ribonuclease P protein subunit p38 isoform X1

      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8
      Conserved Domains (1) summary
      pfam01248
      Location:107 → 185
      Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

    3. XM_006717363.3 → XP_006717426.1  ribonuclease P protein subunit p38 isoform X1

      See identical proteins and their annotated locations for XP_006717426.1

      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8
      Conserved Domains (1) summary
      pfam01248
      Location:107 → 185
      Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

    4. XM_011519293.3 → XP_011517595.1  ribonuclease P protein subunit p38 isoform X1

      See identical proteins and their annotated locations for XP_011517595.1

      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8
      Conserved Domains (1) summary
      pfam01248
      Location:107 → 185
      Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

    5. XM_017015480.3 → XP_016870969.1  ribonuclease P protein subunit p38 isoform X1

      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8
      Conserved Domains (1) summary
      pfam01248
      Location:107 → 185
      Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

    6. XM_006717364.5 → XP_006717427.1  ribonuclease P protein subunit p38 isoform X1

      See identical proteins and their annotated locations for XP_006717427.1

      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8
      Conserved Domains (1) summary
      pfam01248
      Location:107 → 185
      Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      15111088..15118231
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364492.1 → XP_054220467.1  ribonuclease P protein subunit p38 isoform X1

      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8

    2. XM_054364493.1 → XP_054220468.1  ribonuclease P protein subunit p38 isoform X1

      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8

    3. XM_054364494.1 → XP_054220469.1  ribonuclease P protein subunit p38 isoform X1

      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8

    4. XM_054364497.1 → XP_054220472.1  ribonuclease P protein subunit p38 isoform X1

      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8

    5. XM_054364496.1 → XP_054220471.1  ribonuclease P protein subunit p38 isoform X1

      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8

    6. XM_054364495.1 → XP_054220470.1  ribonuclease P protein subunit p38 isoform X1

      UniProtKB/Swiss-Prot
      B3KPY0, D3DRT8, P78345, Q53F71, Q8NHS8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P78345.2 GenPept UniProtKB/Swiss-Prot:P78345

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