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] See more...

Aliases for UTP20 Gene

Aliases for UTP20 Gene

  • UTP20 Small Subunit Processome Component 2 3 5
  • Small Subunit Processome Component 20 Homolog 3 4
  • Down-Regulated In Metastasis Protein 3 4
  • Down Regulated In Metastasis 2 3
  • Novel Nucleolar Protein 73 3 4
  • NNP73 3 4
  • DRIM 3 4
  • UTP20, Small Subunit (SSU) Processome Component, Homolog (Yeast) 2
  • UTP20, Small Subunit (SSU) Processome Component, Homolog 3
  • UTP20 Small Subunit (SSU) Processome Component 3
  • Protein Key-1A6 4
  • 1A6/DRIM 3

External Ids for UTP20 Gene

Previous GeneCards Identifiers for UTP20 Gene

  • GC12P100198
  • GC12P101673
  • GC12P098734

Summaries for UTP20 Gene

Entrez Gene Summary for UTP20 Gene

  • 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]

GeneCards Summary for UTP20 Gene

UTP20 (UTP20 Small Subunit Processome Component) is a Protein Coding gene. Diseases associated with UTP20 include Deafness, Autosomal Dominant 25. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot Summary for UTP20 Gene

Gene Wiki entry for UTP20 Gene

Additional gene information for UTP20 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UTP20 Gene

Genomics for UTP20 Gene

GeneHancer (GH) Regulatory Elements for UTP20 Gene

Promoters and enhancers for UTP20 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UTP20 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UTP20

Top Transcription factor binding sites by QIAGEN in the UTP20 gene promoter:
  • AREB6
  • Arnt
  • Evi-1
  • FOXI1
  • HFH-3
  • Pax-4a
  • POU6F1 (c2)
  • USF-1
  • USF1
  • XBP-1

Genomic Locations for UTP20 Gene

Genomic Locations for UTP20 Gene
chr12:101,280,105-101,386,619
(GRCh38/hg38)
Size:
106,515 bases
Orientation:
Plus strand
chr12:101,673,887-101,780,397
(GRCh37/hg19)
Size:
106,511 bases
Orientation:
Plus strand

Genomic View for UTP20 Gene

Genes around UTP20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UTP20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UTP20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UTP20 Gene

Proteins for UTP20 Gene

  • Protein details for UTP20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75691-UTP20_HUMAN
    Recommended name:
    Small subunit processome component 20 homolog
    Protein Accession:
    O75691
    Secondary Accessions:
    • Q9H3H4

    Protein attributes for UTP20 Gene

    Size:
    2785 amino acids
    Molecular mass:
    318385 Da
    Quaternary structure:
    • Interacts with FBL and PPP1R26.
    SequenceCaution:
    • Sequence=AAG35208.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for UTP20 Gene

Post-translational modifications for UTP20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UTP20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UTP20 Gene

Domains & Families for UTP20 Gene

Gene Families for UTP20 Gene

Protein Domains for UTP20 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UTP20 Gene

GenScript: Design optimal peptide antigens:
  • Protein Key-1A6 (UTP20_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75691

UniProtKB/Swiss-Prot:

UTP20_HUMAN :
  • Belongs to the UTP20 family.
Family:
  • Belongs to the UTP20 family.
genes like me logo Genes that share domains with UTP20: view

Function for UTP20 Gene

Molecular function for UTP20 Gene

UniProtKB/Swiss-Prot Function:
Involved in 18S pre-rRNA processing. Associates with U3 snoRNA.

Phenotypes From GWAS Catalog for UTP20 Gene

Gene Ontology (GO) - Molecular Function for UTP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 16053918
genes like me logo Genes that share ontologies with UTP20: view
genes like me logo Genes that share phenotypes with UTP20: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UTP20 Gene

Localization for UTP20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UTP20 Gene

Nucleus, nucleolus. Note=Colocalizes with NCL in the nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UTP20 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UTP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IBA,ISS 15590835
GO:0005737 cytoplasm ISS 17652137
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with UTP20: view

Pathways & Interactions for UTP20 Gene

genes like me logo Genes that share pathways with UTP20: view

Gene Ontology (GO) - Biological Process for UTP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000447 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 15590835
GO:0000472 endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) ISS 17652137
GO:0000480 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) ISS 17652137
GO:0006364 rRNA processing TAS --
GO:0008285 negative regulation of cell proliferation TAS 9673349
genes like me logo Genes that share ontologies with UTP20: view

No data available for SIGNOR curated interactions for UTP20 Gene

Drugs & Compounds for UTP20 Gene

No Compound Related Data Available

Transcripts for UTP20 Gene

mRNA/cDNA for UTP20 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UTP20 Gene

No ASD Table

Relevant External Links for UTP20 Gene

GeneLoc Exon Structure for
UTP20

Expression for UTP20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UTP20 Gene

Protein differential expression in normal tissues from HIPED for UTP20 Gene

This gene is overexpressed in Stomach (16.9), Blymphocyte (10.9), and Adrenal (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UTP20 Gene



Protein tissue co-expression partners for UTP20 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UTP20

SOURCE GeneReport for Unigene cluster for UTP20 Gene:

Hs.295732

mRNA Expression by UniProt/SwissProt for UTP20 Gene:

O75691-UTP20_HUMAN
Tissue specificity: Expressed in appendix, brain, colon, fetal liver, heart, ovary, pancreas, placenta, prostate, skeletal muscle, small intestine, spleen, testis and thymus.
genes like me logo Genes that share expression patterns with UTP20: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for UTP20 Gene

Orthologs for UTP20 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UTP20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UTP20 31 30
  • 99.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UTP20 31 30
  • 89.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UTP20 31 30
  • 89.14 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Utp20 30
  • 84.29 (n)
mouse
(Mus musculus)
Mammalia Utp20 17 31 30
  • 84.25 (n)
oppossum
(Monodelphis domestica)
Mammalia UTP20 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UTP20 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves UTP20 31 30
  • 69.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UTP20 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia utp20 30
  • 65.96 (n)
zebrafish
(Danio rerio)
Actinopterygii im:7159098 30
  • 60.89 (n)
UTP20 31
  • 57 (a)
OneToOne
wufb83c08 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1547 30
fruit fly
(Drosophila melanogaster)
Insecta CG4554 31 30
  • 42.13 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005033 30
  • 40.84 (n)
worm
(Caenorhabditis elegans)
Secernentea tag-184 31 30
  • 42.8 (n)
OneToMany
C56E6.9 31
  • 22 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17425g 30
  • 43.27 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL006W 30
  • 42.44 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP20 33 31 30
  • 42.3 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes utp20 30
  • 43.44 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02494 30
  • 41.19 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
OneToOne
Species where no ortholog for UTP20 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UTP20 Gene

ENSEMBL:
Gene Tree for UTP20 (if available)
TreeFam:
Gene Tree for UTP20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UTP20: view image

Paralogs for UTP20 Gene

No data available for Paralogs for UTP20 Gene

Variants for UTP20 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UTP20 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
707902 Benign: not provided 101,281,124(+) A/G SYNONYMOUS_VARIANT
707903 Benign: not provided 101,292,060(+) A/T MISSENSE_VARIANT
707904 Likely Benign: not provided 101,361,983(+) G/A MISSENSE_VARIANT
713651 Benign: not provided 101,363,586(+) A/G MISSENSE_VARIANT
713652 Benign: not provided 101,363,720(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for UTP20 Gene

Structural Variations from Database of Genomic Variants (DGV) for UTP20 Gene

Variant ID Type Subtype PubMed ID
esv2152079 CNV deletion 18987734
esv2497077 CNV deletion 19546169
esv2663815 CNV deletion 23128226
esv2746278 CNV deletion 23290073
esv2746279 CNV deletion 23290073
esv3549687 CNV deletion 23714750
esv3630567 CNV loss 21293372
nsv470315 CNV gain 18288195
nsv510315 OTHER sequence alteration 20534489
nsv527122 CNV loss 19592680
nsv527505 CNV loss 19592680
nsv53174 CNV deletion 16902084

Variation tolerance for UTP20 Gene

Residual Variation Intolerance Score: 82.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.16; 80.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UTP20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UTP20

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UTP20 Gene

Disorders for UTP20 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UTP20 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal dominant 25
  • dfna25
- elite association - COSMIC cancer census association via MalaCards
Search UTP20 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UTP20

genes like me logo Genes that share disorders with UTP20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UTP20 Gene

Publications for UTP20 Gene

  1. Human 1A6/DRIM, the homolog of yeast Utp20, functions in the 18S rRNA processing. (PMID: 17498821) Wang Y … Ke Y (Biochimica et biophysica acta 2007) 2 3 4 54
  2. Differential gene expression in mammary carcinoma cell lines: identification of DRIM, a new gene down-regulated in metastasis. (PMID: 9673349) Schwirzke M … Weidle UH (Anticancer research 1998) 2 3 4 54
  3. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PMID: 17903303) O'Donnell CJ … Demissie S (BMC medical genetics 2007) 3 41 54
  4. Mapping nucleolar localization sequences of 1A6/DRIM. (PMID: 16458307) Liu J … Ke Y (FEBS letters 2006) 3 4 54
  5. KIAA0649, a 1A6/DRIM-interacting protein with the oncogenic potential. (PMID: 16053918) Yang L … Ke Y (Biochemical and biophysical research communications 2005) 3 4 54

Products for UTP20 Gene

Sources for UTP20 Gene