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    UTP18 UTP18 small subunit processome component [ Homo sapiens (human) ]

    Gene ID: 51096, updated on 27-Nov-2024

    Summary

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    Official Symbol
    UTP18provided by HGNC
    Official Full Name
    UTP18 small subunit processome componentprovided by HGNC
    Primary source
    HGNC:HGNC:24274
    See related
    Ensembl:ENSG00000011260 MIM:612816; AllianceGenome:HGNC:24274
    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
    WDR50; CGI-48
    Summary
    Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in nuclear membrane; nucleolus; and nucleoplasm. Part of small-subunit processome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 20.7), lymph node (RPKM 10.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UTP18 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (51260546..51297933)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (52127774..52165160)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (49337907..49375294)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:49230233-49231432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49232587-49233118 Neighboring gene NME1-NME2 readthrough Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:49243725-49244333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8725 Neighboring gene MPRA-validated peak2890 silencer Neighboring gene NME/NM23 nucleoside diphosphate kinase 1 Neighboring gene NME/NM23 nucleoside diphosphate kinase 2 Neighboring gene mbt domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8727 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12403 Neighboring gene long intergenic non-protein coding RNA 2071 Neighboring gene NANOG hESC enhancer GRCh37_chr17:49408132-49408651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49409544-49410044 Neighboring gene long intergenic non-protein coding RNA 2072

    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. Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression. Yokoyama A, et al. Mol Cell Biol, 2004 Jul. PMID 15199122, Free PMC Article
    2. Ubiquitin-like protein 3 (UBL3) is required for MARCH ubiquitination of major histocompatibility complex class II and CD86. Liu H, et al. Nat Commun, 2022 Apr 11. PMID 35411049, Free PMC Article
    3. The small-subunit processome is a ribosome assembly intermediate. Bernstein KA, et al. Eukaryot Cell, 2004 Dec. PMID 15590835, Free PMC Article
    4. Nucleolar maturation of the human small subunit processome. Singh S, et al. Science, 2021 Sep 10. PMID 34516797, Free PMC Article
    5. Functional proteomic analysis of human nucleolus. Scherl A, et al. Mol Biol Cell, 2002 Nov. PMID 12429849, Free PMC Article

    See all (95) 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)

    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 RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in rRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ribosomal small subunit biogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Pwp2p-containing subcomplex of 90S preribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of small-subunit processome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of small-subunit processome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    U3 small nucleolar RNA-associated protein 18 homolog
    Names
    UTP18, small subunit (SSU) processome component, homolog
    WD repeat domain 50
    WD repeat-containing protein 50

    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_016001.3 → NP_057085.2  U3 small nucleolar RNA-associated protein 18 homolog

      See identical proteins and their annotated locations for NP_057085.2

      Status: VALIDATED

      Source sequence(s)
      AY007138, BC025276, BG723023, BM548967
      Consensus CDS
      CCDS42362.1
      UniProtKB/Swiss-Prot
      Q9H4N6, Q9Y5J1
      UniProtKB/TrEMBL
      B2RAX6
      Related
      ENSP00000225298.7, ENST00000225298.12
      Conserved Domains (3) summary
      COG2319
      Location:270 → 554
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:254 → 294
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:230 → 493
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      51260546..51297933
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524870.3 → XP_011523172.1  U3 small nucleolar RNA-associated protein 18 homolog isoform X2

      UniProtKB/TrEMBL
      B2RAX6
      Conserved Domains (3) summary
      COG2319
      Location:270 → 491
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:254 → 294
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:230 → 493
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. XM_006721930.4 → XP_006721993.2  U3 small nucleolar RNA-associated protein 18 homolog isoform X1

      Conserved Domains (3) summary
      COG2319
      Location:270 → 480
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:254 → 294
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:230 → 452
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      52127774..52165160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316344.1 → XP_054172319.1  U3 small nucleolar RNA-associated protein 18 homolog isoform X2

    2. XM_054316343.1 → XP_054172318.1  U3 small nucleolar RNA-associated protein 18 homolog isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5J1.3 GenPept UniProtKB/Swiss-Prot:Q9Y5J1

    Gene LinkOut

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