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    RRP12 ribosomal RNA processing 12 homolog [ Homo sapiens (human) ]

    Gene ID: 23223, updated on 7-Apr-2024

    Summary

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    Official Symbol
    RRP12provided by HGNC
    Official Full Name
    ribosomal RNA processing 12 homologprovided by HGNC
    Primary source
    HGNC:HGNC:29100
    See related
    Ensembl:ENSG00000052749 MIM:617723; AllianceGenome:HGNC:29100
    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
    KIAA0690
    Summary
    Enables RNA binding activity. Predicted to be involved in rRNA processing. Located in cytosol; nucleolus; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in bone marrow (RPKM 30.6), testis (RPKM 10.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RRP12 in Genome Data Viewer
    Location:
    10q24.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (97356357..97401370, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (98236547..98290033, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (99116114..99161127, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:99093197-99094104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2675 Neighboring gene uncharacterized LOC105378448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2676 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:99096642-99097160 Neighboring gene FRAT regulator of WNT signaling pathway 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:99154004-99154171 Neighboring gene ribosomal protein L34 pseudogene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3850 Neighboring gene Sharpr-MPRA regulatory region 6385 Neighboring gene uncharacterized LOC644215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2677 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:99186899-99187121 Neighboring gene phosphoglycerate mutase 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. Visualizing late states of human 40S ribosomal subunit maturation. Ameismeier M, et al. Nature, 2018 Jun. PMID 29875412
    2. RRP12 is a crucial nucleolar protein that regulates p53 activity in osteosarcoma cells. Choi YJ, et al. Tumour Biol, 2016 Apr. PMID 26499779
    3. DEAD-box helicase DDX27 regulates 3' end formation of ribosomal 47S RNA and stably associates with the PeBoW-complex. Kellner M, et al. Exp Cell Res, 2015 May 15. PMID 25825154
    4. A Genome-wide ER-phagy Screen Highlights Key Roles of Mitochondrial Metabolism and ER-Resident UFMylation. Liang JR, et al. Cell, 2020 Mar 19. PMID 32160526, Free PMC Article
    5. ATRX proximal protein associations boast roles beyond histone deposition. Scott WA, et al. PLoS Genet, 2021 Nov. PMID 34780483, Free PMC Article

    See all (130) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study demonstrated that RRP12 was crucial for cell survival during cytotoxic stress via the repression of p53 stability. Thus, targeting RRP12 may enhance chemotherapeutic effect in cancers
      Title: RRP12 is a crucial nucleolar protein that regulates p53 activity in osteosarcoma cells.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. 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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20231, DKFZp762P1116

    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
    		  
    Process Evidence Code Pubs
    involved_in rRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear membrane 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
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    RRP12-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_001145114.1 → NP_001138586.1  RRP12-like protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK022496, AK296315, AL355490, BC012745
      Consensus CDS
      CCDS44467.1
      UniProtKB/TrEMBL
      B3KMR5
      Related
      ENSP00000414863.1, ENST00000414986.5
      Conserved Domains (1) summary
      pfam08161
      Location:411 → 608
      NUC173; NUC173 domain

    2. NM_001284337.2 → NP_001271266.1  RRP12-like protein isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks three alternate in-frame exons in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AB014590, AK022496, AL355490, BC012745, DA227012
      Consensus CDS
      CCDS60605.1
      UniProtKB/TrEMBL
      B3KMR5
      Related
      ENSP00000324315.6, ENST00000315563.10
      Conserved Domains (1) summary
      pfam08161
      Location:372 → 569
      NUC173; NUC173 domain

    3. NM_015179.4 → NP_055994.2  RRP12-like protein isoform 1

      See identical proteins and their annotated locations for NP_055994.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK022496, AK056614, BC012745, DA231457
      Consensus CDS
      CCDS7457.1
      UniProtKB/Swiss-Prot
      B4DK00, E9PCK7, Q5JTH8, Q5JTH9, Q69YK4, Q96E87, Q9BUH3, Q9Y4C7
      UniProtKB/TrEMBL
      B3KMR5
      Related
      ENSP00000360031.4, ENST00000370992.9
      Conserved Domains (1) summary
      pfam08161
      Location:472 → 669
      NUC173; NUC173 domain

    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
      97356357..97401370 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424903.1 → XP_047280859.1  RRP12-like protein isoform X1

    2. XM_011539556.3 → XP_011537858.1  RRP12-like protein isoform X2

      Conserved Domains (1) summary
      pfam08161
      Location:472 → 669
      NUC173; NUC173 domain

    3. XM_047424904.1 → XP_047280860.1  RRP12-like protein isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      98236547..98290033 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365336.1 → XP_054221311.1  RRP12-like protein isoform X4

    2. XM_054365337.1 → XP_054221312.1  RRP12-like protein isoform X1

    3. XM_054365338.1 → XP_054221313.1  RRP12-like protein isoform X2

    4. XM_054365339.1 → XP_054221314.1  RRP12-like protein isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JTH9.2 GenPept UniProtKB/Swiss-Prot:Q5JTH9

    Gene LinkOut

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

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