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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
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Genomic context

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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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