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    RPP25L ribonuclease P/MRP subunit p25 like [ Homo sapiens (human) ]

    Gene ID: 138716, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RPP25Lprovided by HGNC
    Official Full Name
    ribonuclease P/MRP subunit p25 likeprovided by HGNC
    Primary source
    HGNC:HGNC:19909
    See related
    Ensembl:ENSG00000164967 AllianceGenome:HGNC:19909
    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
    C9orf23; bA296L22.5
    Summary
    This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in duodenum (RPKM 9.6), prostate (RPKM 9.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RPP25L in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34610495..34612097, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (34629041..34630643, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34610492..34612094, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34521732-34522284 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19848 Neighboring gene energy homeostasis associated Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34546795-34547294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:34555021-34555613 Neighboring gene ciliary neurotrophic factor receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34568415-34568949 Neighboring gene uncharacterized LOC105376023 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34570922-34571422 Neighboring gene CNTFR antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34578559-34579533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34611012-34611565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28311 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34624191-34624739 Neighboring gene dynactin subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19852 Neighboring gene AT-rich interaction domain 3C

    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. Inventory and analysis of the protein subunits of the ribonucleases P and MRP provides further evidence of homology between the yeast and human enzymes. Rosenblad MA, et al. Nucleic Acids Res, 2006. PMID 16998185, Free PMC Article
    2. Identification of genes related to Parkinson's disease using expressed sequence tags. Kim JM, et al. DNA Res, 2006 Dec 31. PMID 17213182
    3. Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins. Dho SE, et al. Sci Rep, 2019 Aug 28. PMID 31462741, Free PMC Article
    4. Combinatorial CRISPR screen identifies fitness effects of gene paralogues. Thompson NA, et al. Nat Commun, 2021 Feb 26. PMID 33637726, Free PMC Article
    5. MAP4K Interactome Reveals STRN4 as a Key STRIPAK Complex Component in Hippo Pathway Regulation. Seo G, et al. Cell Rep, 2020 Jul 7. PMID 32640226, Free PMC Article

    See all (41) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC29635

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in tRNA 5'-leader removal IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of ribonuclease MRP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ribonuclease P protein subunit p25-like protein
    Names
    RNase P protein subunit-like p25
    alba-like protein C9orf23
    ribonuclease P/MRP 25kDa subunit-like
    rpp25-like protein

    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_148178.3 → NP_680544.1  ribonuclease P protein subunit p25-like protein

      See identical proteins and their annotated locations for NP_680544.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL528391, BC032136
      Consensus CDS
      CCDS6559.1
      UniProtKB/Swiss-Prot
      D3DRM5, Q8N5L8
      Related
      ENSP00000368242.4, ENST00000378959.9
      Conserved Domains (1) summary
      pfam01918
      Location:27 → 89
      Alba

    2. NM_148179.3 → NP_680545.1  ribonuclease P protein subunit p25-like protein

      See identical proteins and their annotated locations for NP_680545.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AI016726, AL528391, DT218980
      Consensus CDS
      CCDS6559.1
      UniProtKB/Swiss-Prot
      D3DRM5, Q8N5L8
      Related
      ENSP00000297613.4, ENST00000297613.4
      Conserved Domains (1) summary
      pfam01918
      Location:27 → 89
      Alba

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      34610495..34612097 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      34629041..34630643 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5L8.1 GenPept UniProtKB/Swiss-Prot:Q8N5L8

    Gene LinkOut

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

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