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

    Gene ID: 51096, updated on 3-Dec-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_016001.3NP_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:270554
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:254294
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:230493
      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_011524870.3XP_011523172.1  U3 small nucleolar RNA-associated protein 18 homolog isoform X2

      UniProtKB/TrEMBL
      B2RAX6
      Conserved Domains (3) summary
      COG2319
      Location:270491
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:254294
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:230493
      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_006721930.4XP_006721993.2  U3 small nucleolar RNA-associated protein 18 homolog isoform X1

      Conserved Domains (3) summary
      COG2319
      Location:270480
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:254294
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:230452
      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_054316344.1XP_054172319.1  U3 small nucleolar RNA-associated protein 18 homolog isoform X2

      UniProtKB/TrEMBL
      B2RAX6
    2. XM_054316343.1XP_054172318.1  U3 small nucleolar RNA-associated protein 18 homolog isoform X1