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    URB1 URB1 ribosome biogenesis homolog [ Homo sapiens (human) ]

    Gene ID: 9875, updated on 14-Nov-2024

    Summary

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    Official Symbol
    URB1provided by HGNC
    Official Full Name
    URB1 ribosome biogenesis homologprovided by HGNC
    Primary source
    HGNC:HGNC:17344
    See related
    Ensembl:ENSG00000142207 MIM:608865; AllianceGenome:HGNC:17344
    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
    NPA1; C21orf108
    Summary
    Enables RNA binding activity. Predicted to be involved in maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) and maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Located in fibrillar center. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 5.5), endometrium (RPKM 5.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See URB1 in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (32311018..32393012, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (30680775..30762860, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (33683329..33765321, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905009 Neighboring gene Sharpr-MPRA regulatory region 333 Neighboring gene melanocortin 2 receptor accessory protein Neighboring gene MRAP antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr21:33702964-33703556 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:33706649-33707848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18361 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:33754437-33755636 Neighboring gene small nucleolar RNA, H/ACA box 80A Neighboring gene H3K27ac hESC enhancers GRCh37_chr21:33764587-33765369 and GRCh37_chr21:33765370-33766151 Neighboring gene URB1 antisense RNA 1 (head to head) Neighboring gene eva-1 homolog C Neighboring gene histone demethylase UTY-like

    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 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. RAPTOR promotes colorectal cancer proliferation by inducing mTORC1 and upregulating ribosome assembly factor URB1. Wang T, et al. Cancer Med, 2020 Feb. PMID 31886628, Free PMC Article
    2. Ribosome assembly factor URB1 contributes to colorectal cancer proliferation through transcriptional activation of ATF4. Wang T, et al. Cancer Sci, 2021 Jan. PMID 32888357, Free PMC Article
    3. mRNA 5' region sequence incompleteness: a potential source of systematic errors in translation initiation codon assignment in human mRNAs. Casadei R, et al. Gene, 2003 Dec 4. PMID 14637006
    4. Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21. Slavov D, et al. Gene, 2000 Apr 18. PMID 10773462
    5. NOP132 is required for proper nucleolus localization of DEAD-box RNA helicase DDX47. Sekiguchi T, et al. Nucleic Acids Res, 2006. PMID 16963496, Free PMC Article

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RAPTOR promotes colorectal cancer proliferation by inducing mTORC1 and upregulating ribosome assembly factor URB1.
      Title: RAPTOR promotes colorectal cancer proliferation by inducing mTORC1 and upregulating ribosome assembly factor URB1.
    2. Ribosome assembly factor URB1 contributes to colorectal cancer proliferation through transcriptional activation of ATF4.
      Title: Ribosome assembly factor URB1 contributes to colorectal cancer proliferation through transcriptional activation of ATF4.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0539

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    Process Evidence Code Pubs
    involved_in maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in fibrillar center IDA
    Inferred from Direct Assay
    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
    		 PubMed 
    located_in nucleolus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nucleolar pre-ribosomal-associated protein 1
    Names
    URB1 ribosome biogenesis 1 homolog
    nucleolar preribosomal-associated protein 1
    nucleolar protein 254 kDa

    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_014825.3 → NP_055640.2  nucleolar pre-ribosomal-associated protein 1

      See identical proteins and their annotated locations for NP_055640.2

      Status: VALIDATED

      Source sequence(s)
      AP000266, AP000267, AP000268, AP000269
      Consensus CDS
      CCDS46645.1
      UniProtKB/Swiss-Prot
      D3DSE5, O60287, Q96NX1, Q9NYQ1
      Related
      ENSP00000372199.3, ENST00000382751.4
      Conserved Domains (2) summary
      pfam11707
      Location:78 → 393
      Npa1; Ribosome 60S biogenesis N-terminal
      pfam16201
      Location:1668 → 1857
      NopRA1; Nucleolar pre-ribosomal-associated protein 1

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      32311018..32393012 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      30680775..30762860 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60287.4 GenPept UniProtKB/Swiss-Prot:O60287

    Gene LinkOut

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

    Chemical Information
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