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UTP20 UTP20 small subunit processome component [ Homo sapiens (human) ]

Gene ID: 27340, updated on 10-Dec-2024

Summary

Official Symbol
UTP20provided by HGNC
Official Full Name
UTP20 small subunit processome componentprovided by HGNC
Primary source
HGNC:HGNC:17897
See related
Ensembl:ENSG00000120800 MIM:612822; AllianceGenome:HGNC:17897
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
DRIM; 1A6/DRIM
Summary
UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by OMIM, Jun 2009]
Expression
Ubiquitous expression in testis (RPKM 4.3), ovary (RPKM 3.4) and 25 other tissues See more
Orthologs
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Genomic context

See UTP20 in Genome Data Viewer
Location:
12q23.2
Exon count:
62
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (101280105..101386618)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (101241888..101347734)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (101673883..101780396)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 5 member 8 Neighboring gene RNA, U6 small nuclear 768, pseudogene Neighboring gene ribosomal protein S6 pseudogene 19 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:101673582-101674173 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:101693090-101694289 Neighboring gene small nucleolar RNA U13 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:101779819-101780033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6863 Neighboring gene RNA, U6 small nuclear 1068, pseudogene Neighboring gene ARF like GTPase 1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease.
EBI GWAS Catalog
Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.
EBI GWAS Catalog
Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of 90S preribosome  
part_of 90S preribosome PubMed 
located_in cytoplasm PubMed 
is_active_in nucleolus  
located_in nucleolus PubMed 
located_in nucleolus PubMed 
located_in nucleoplasm PubMed 
located_in nucleoplasm  
located_in plasma membrane  
part_of preribosome, small subunit precursor PubMed 
part_of small-subunit processome  
part_of small-subunit processome PubMed 
part_of small-subunit processome PubMed 

General protein information

Preferred Names
small subunit processome component 20 homolog
Names
NNP73
UTP20 small subunit (SSU) processome component
UTP20, small subunit (SSU) processome component, homolog
down regulated in metastasis
down-regulated in metastasis protein
novel nucleolar protein 73

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_014503.3NP_055318.2  small subunit processome component 20 homolog

    See identical proteins and their annotated locations for NP_055318.2

    Status: VALIDATED

    Source sequence(s)
    AA306482, AC063948, AC063951, AJ006778, BX957203
    Consensus CDS
    CCDS9081.1
    UniProtKB/Swiss-Prot
    O75691, Q9H3H4
    Related
    ENSP00000261637.4, ENST00000261637.5
    Conserved Domains (1) summary
    pfam07539
    Location:9111531
    DRIM; Down-regulated in metastasis

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    101280105..101386618
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    101241888..101347734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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