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

Gene ID: 51096, updated on 3-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
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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 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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