Aliases for UTP6 Gene

Aliases for UTP6 Gene

  • UTP6 Small Subunit Processome Component 2 3 5
  • U3 Small Nucleolar RNA-Associated Protein 6 Homolog 3 4
  • Hepatocellular Carcinoma-Associated Antigen 66 3 4
  • Multiple Hat Domains Protein 3 4
  • C17orf40 3 4
  • HCA66 3 4
  • UTP6, Small Subunit (SSU) Processome Component, Homolog (Yeast) 2
  • UTP6, Small Subunit (SSU) Processome Component, Homolog 3
  • Hepatocellular Carcinoma Associated Antigen 66 2
  • Chromosome 17 Open Reading Frame 40 2
  • MHAT 4

External Ids for UTP6 Gene

Previous HGNC Symbols for UTP6 Gene

  • C17orf40

Previous GeneCards Identifiers for UTP6 Gene

  • GC17M027216
  • GC17M030187
  • GC17M026401

Summaries for UTP6 Gene

GeneCards Summary for UTP6 Gene

UTP6 (UTP6 Small Subunit Processome Component) is a Protein Coding gene. Diseases associated with UTP6 include Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb and Interstitial Keratitis. Among its related pathways are Gene Expression and rRNA processing in the nucleus and cytosol. Gene Ontology (GO) annotations related to this gene include snoRNA binding.

UniProtKB/Swiss-Prot Summary for UTP6 Gene

Gene Wiki entry for UTP6 Gene

Additional gene information for UTP6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UTP6 Gene

Genomics for UTP6 Gene

GeneHancer (GH) Regulatory Elements for UTP6 Gene

Promoters and enhancers for UTP6 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J031900 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 780.6 +0.4 410 2.2 SIN3A SP1 ZBTB40 CTCF RBPJ POLR2A ATF1 CREB1 HCFC1 MYC UTP6 SUZ12 ZNF207 COPRS TEFM PSMD11 DPRXP4 SH3GL1P1 ENSG00000264456 lnc-COPRS-2
GH17J031902 Enhancer 0.5 ENCODE 750.6 -1.1 -1147 0.2 EED RUNX3 JUNB BATF IRF4 ATF2 UTP6 COPRS SUZ12
GH17J032340 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 96.3 -440.3 -440282 2.4 GTF3C2 ZNF785 SIN3A ZNF24 ZBTB40 SP1 CTCF SIX5 ZBTB6 RBPJ lnc-MYO1D-4 C17orf75 ZNF207 UTP6 SUZ12 COPRS ENSG00000266599 ENSG00000265337 ENSG00000264497 ENSG00000264300
GH17J031903 Enhancer 0.3 ENCODE 750.6 -0.9 -867 0.2 ATF2 UTP6 SUZ12
GH17J032348 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 74.8 -449.3 -449291 5.2 GTF3C2 SIN3A SP1 ZBTB40 LCORL MLX RBPJ POLR2A USF2 CREB1 ZNF207 C17orf75 MIR632 UTP6 PSMD11 COPRS LRRC37B ENSG00000266599 ENSG00000265337 ENSG00000264497
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UTP6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UTP6 gene promoter:
  • c-Myb
  • NF-1

Genomic Locations for UTP6 Gene

Genomic Locations for UTP6 Gene
40,807 bases
Minus strand
40,862 bases
Minus strand

Genomic View for UTP6 Gene

Genes around UTP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UTP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UTP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UTP6 Gene

Proteins for UTP6 Gene

  • Protein details for UTP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    U3 small nucleolar RNA-associated protein 6 homolog
    Protein Accession:
    Secondary Accessions:
    • Q8IX96
    • Q96BL2
    • Q9NQ91

    Protein attributes for UTP6 Gene

    597 amino acids
    Molecular mass:
    70194 Da
    Quaternary structure:
    No Data Available

neXtProt entry for UTP6 Gene

Post-translational modifications for UTP6 Gene

  • Ubiquitination at Lys180, Lys295, Lys463, Lys479, Lys498, and Lys575
  • Modification sites at PhosphoSitePlus

Other Protein References for UTP6 Gene

No data available for DME Specific Peptides for UTP6 Gene

Domains & Families for UTP6 Gene

Gene Families for UTP6 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for UTP6 Gene

GenScript: Design optimal peptide antigens:
  • Multiple hat domains protein (UTP6_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the UTP6 family.
  • Belongs to the UTP6 family.
genes like me logo Genes that share domains with UTP6: view

Function for UTP6 Gene

Molecular function for UTP6 Gene

UniProtKB/Swiss-Prot Function:
Involved in nucleolar processing of pre-18S ribosomal RNA.

Phenotypes From GWAS Catalog for UTP6 Gene

Gene Ontology (GO) - Molecular Function for UTP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0030515 snoRNA binding IEA --
genes like me logo Genes that share ontologies with UTP6: view
genes like me logo Genes that share phenotypes with UTP6: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UTP6 Gene

Localization for UTP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UTP6 Gene

Nucleus, nucleolus.

Subcellular locations from

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 UTP6 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UTP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA,IEA --
GO:0032040 small-subunit processome IBA 21873635
GO:0034388 Pwp2p-containing subcomplex of 90S preribosome IBA 21873635
genes like me logo Genes that share ontologies with UTP6: view

Pathways & Interactions for UTP6 Gene

genes like me logo Genes that share pathways with UTP6: view

Gene Ontology (GO) - Biological Process for UTP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA 21873635
GO:0006364 rRNA processing TAS --
GO:0006396 RNA processing IEA --
genes like me logo Genes that share ontologies with UTP6: view

No data available for SIGNOR curated interactions for UTP6 Gene

Drugs & Compounds for UTP6 Gene

No Compound Related Data Available

Transcripts for UTP6 Gene

mRNA/cDNA for UTP6 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UTP6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b ^ 17 ^ 18 ^
SP1: - - - - -
SP2: - - -
SP3: - - - - -
SP5: -
SP7: -

ExUns: 19a · 19b

Relevant External Links for UTP6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for UTP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UTP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UTP6 Gene

This gene is overexpressed in Bone (15.0), Peripheral blood mononuclear cells (12.3), Blymphocyte (8.4), and CD8 Tcells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UTP6 Gene

Protein tissue co-expression partners for UTP6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UTP6 Gene:


SOURCE GeneReport for Unigene cluster for UTP6 Gene:


Evidence on tissue expression from TISSUES for UTP6 Gene

  • Intestine(4.3)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with UTP6: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UTP6 Gene

Orthologs for UTP6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UTP6 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia UTP6 33 32
  • 99.42 (n)
(Canis familiaris)
Mammalia UTP6 33 32
  • 89.34 (n)
(Mus musculus)
Mammalia Utp6 17 33 32
  • 85.35 (n)
(Rattus norvegicus)
Mammalia Utp6 32
  • 81.64 (n)
(Bos Taurus)
Mammalia UTP6 33 32
  • 81.57 (n)
(Monodelphis domestica)
Mammalia UTP6 33
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia UTP6 33
  • 66 (a)
(Gallus gallus)
Aves UTP6 33 32
  • 69.29 (n)
(Anolis carolinensis)
Reptilia UTP6 33
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia utp6 32
  • 60.13 (n)
Str.1163 32
African clawed frog
(Xenopus laevis)
Amphibia MGC53963 32
(Danio rerio)
Actinopterygii utp6 33 32
  • 59.09 (n)
zgc55648 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008427 32
  • 41.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7246 33 32
  • 40.66 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP6 35 33
  • 23 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G28200 32
  • 43.49 (n)
(Oryza sativa)
Liliopsida Os02g0103900 32
  • 43.54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5527 33
  • 37 (a)
Species where no ortholog for UTP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UTP6 Gene

Gene Tree for UTP6 (if available)
Gene Tree for UTP6 (if available)
Evolutionary constrained regions (ECRs) for UTP6: view image

Paralogs for UTP6 Gene Pseudogenes for UTP6 Gene

genes like me logo Genes that share paralogs with UTP6: view

No data available for Paralogs for UTP6 Gene

Variants for UTP6 Gene

Sequence variations from dbSNP and Humsavar for UTP6 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000043203 -- 31,861,816(-) T/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000077478 -- 31,862,060(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000106250 -- 31,882,862(-) G/A/T intron_variant
rs1000138850 -- 31,882,123(-) T/C intron_variant
rs1000177389 -- 31,885,297(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UTP6 Gene

Variant ID Type Subtype PubMed ID
esv2758684 CNV gain 17122850
esv3582603 CNV loss 25503493
nsv1062194 CNV gain 25217958
nsv1067240 CNV gain 25217958
nsv1109067 CNV deletion 24896259

Variation tolerance for UTP6 Gene

Residual Variation Intolerance Score: 70.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.94; 93.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UTP6 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UTP6 Gene

Disorders for UTP6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UTP6 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
chromosome 17q11.2 deletion syndrome, 1.4-mb
  • neurofibromatosis 1 microdeletion syndrome
interstitial keratitis
congenital syphilis
  • mtct of syphilis
- elite association - COSMIC cancer census association via MalaCards
Search UTP6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UTP6

genes like me logo Genes that share disorders with UTP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UTP6 Gene

Publications for UTP6 Gene

  1. A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. (PMID: 10843809) Jenne DE … Thiel G (Genomics 2000) 2 3 4 56
  2. Mammalian HCA66 protein is required for both ribosome synthesis and centriole duplication. (PMID: 22434888) Bonnart C … Henras AK (Nucleic acids research 2012) 2 3 56
  3. Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients. (PMID: 17380155) Piddubnyak V … Poyet JL (Cell death and differentiation 2007) 3 23 56
  4. Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. (PMID: 16138909) Venturin M … Riva P (Annals of human genetics 2005) 2 3 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

Products for UTP6 Gene

Sources for UTP6 Gene