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

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

1A6/DRIM activates Pol I transcription most likely by associating with both hALP and UBF and thereby affecting the acetylation of UBF
Title: 1A6/DRIM, a novel t-UTP, activates RNA polymerase I transcription and promotes cell proliferation.
DRIM is involved in 18S rRNA processing
Title: Human 1A6/DRIM, the homolog of yeast Utp20, functions in the 18S rRNA processing.
Analysis of the relationship between DRIM gene expression and the metastatic phenotype of breast neoplasms.
Title: The interrelationship between DRIM gene expression and cytogenetic and phenotypic characteristics in human breast tumor cell lines.
a single region located between amino acids 2744 and 2761 at the C-terminus is capable of nucleolar accumulation. Two basic amino acid clusters within this region are essential for nucleolar accumulation.
Title: Mapping nucleolar localization sequences of 1A6/DRIM.

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

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 EBI GWAS CatalogPubMed
Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

A009L38 (e-PCR)
- UniSTS:60292

D12S1153E (e-PCR)
- UniSTS:151435

SHGC-150879 (e-PCR)
- UniSTS:173468

G64595 (e-PCR)
- UniSTS:163749

RH65919 (e-PCR)
- UniSTS:42159

D12S1727 (e-PCR), detects polymorphism
- UniSTS:16078

PMC222913P1 (e-PCR)
- UniSTS:272104

G32661 (e-PCR)
- UniSTS:117243

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ribosomal small subunit biogenesis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of 90S preribosome	IBA Inferred from Biological aspect of Ancestor more info
part_of 90S preribosome	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in nucleoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
part_of preribosome, small subunit precursor	ISS Inferred from Sequence or Structural Similarity 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
part_of small-subunit processome	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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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.