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Aliases for UTP6 Gene

Aliases for UTP6 Gene

  • UTP6, Small Subunit Processome Component 2 3 5
  • 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
  • U3 Small Nucleolar RNA-Associated Protein 6 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 Deep Keratitis. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. GO annotations related to this gene include snoRNA binding.

UniProtKB/Swiss-Prot for UTP6 Gene

  • Involved in nucleolar processing of pre-18S ribosomal RNA.

Gene Wiki entry for UTP6 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UTP6 Gene

Genomics for UTP6 Gene

Regulatory Elements for UTP6 Gene

Enhancers for UTP6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G032348 1.4 ENCODE dbSUPER 43.3 -448.9 -448865 4.1 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 SUZ12 UTP6 PSMD11 LRRC37B RHBDL3 C17orf75 ZNF207 ENSG00000274341
GH17G032557 1.5 FANTOM5 Ensembl ENCODE 33.9 -656.8 -656795 2.3 HDGF TBP PKNOX1 ZFP64 ZNF121 CBX5 FOS RELB ETV6 IKZF2 SUZ12 UTP6 CDK5R1 SH3GL1P1 C17orf75 GC17M032557 ENSG00000265337
GH17G031548 1.6 Ensembl ENCODE dbSUPER 25.5 +352.0 351965 2.4 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 UTP6 SUZ12 ENSG00000266490 SH3GL1P2 ATAD5 RHBDL3 DPRXP4 RNF135 ENSG00000264456 TEFM
GH17G031403 0.8 dbSUPER 38.7 +497.6 497557 1.2 ZFP64 TCF12 ZNF121 GATA2 SMARCA5 ZNF202 ZNF654 ZNF680 ZBTB11 ZNF426 UTP6 SUZ12 SMURF2P1 ENSG00000266490 SH3GL1P2 LRRC37BP1 ENSG00000265139 RHBDL3 SUZ12P1 C17orf75
GH17G031923 1.1 Ensembl ENCODE 27.6 -22.1 -22088 1.5 HDGF PKNOX1 NFRKB ZBTB40 TCF12 GTF3C2 CEBPB ELF4 KAT8 POLR2H UTP6 COPRS SUZ12 DPRXP4 RNF135 ENSG00000264456
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UTP6 on UCSC Golden Path with GeneCards custom track

Promoters for UTP6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000093174 265 1800 HDGF PKNOX1 FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF2

Transcription factor binding sites by QIAGEN in the UTP6 gene promoter:

Genomic Location for UTP6 Gene

Chromosome:
17
Start:
31,860,899 bp from pter
End:
31,901,765 bp from pter
Size:
40,867 bases
Orientation:
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:
    Q9NYH9-UTP6_HUMAN
    Recommended name:
    U3 small nucleolar RNA-associated protein 6 homolog
    Protein Accession:
    Q9NYH9
    Secondary Accessions:
    • Q8IX96
    • Q96BL2
    • Q9NQ91

    Protein attributes for UTP6 Gene

    Size:
    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 posLast=180180, Lys295, isoforms=463, isoforms=479, posLast=498498, and posLast=575575
  • 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

Suggested Antigen Peptide Sequences for UTP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NYH9

UniProtKB/Swiss-Prot:

UTP6_HUMAN :
  • Belongs to the UTP6 family.
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.

Gene Ontology (GO) - Molecular Function for UTP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030515 snoRNA binding IBA --
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UTP6

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

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 UTP6 gene
Compartment Confidence
nucleus 5
cytosol 2

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 --
GO:0032040 small-subunit processome IBA --
GO:0034388 Pwp2p-containing subcomplex of 90S preribosome IBA --
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 --
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

Unigene Clusters for UTP6 Gene

UTP6, small subunit (SSU) processome component, homolog (yeast):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UTP6

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: - - - - -
SP4:
SP5: -
SP6:
SP7: -

ExUns: 19a · 19b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for UTP6 Gene

GeneLoc Exon Structure for
UTP6
ECgene alternative splicing isoforms for
UTP6

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, PaxDb, 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:

UTP6

SOURCE GeneReport for Unigene cluster for UTP6 Gene:

Hs.589862

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia UTP6 34 35
  • 99.42 (n)
dog
(Canis familiaris)
Mammalia UTP6 34 35
  • 89.34 (n)
mouse
(Mus musculus)
Mammalia Utp6 34 16 35
  • 85.35 (n)
rat
(Rattus norvegicus)
Mammalia Utp6 34
  • 81.64 (n)
cow
(Bos Taurus)
Mammalia UTP6 34 35
  • 81.57 (n)
oppossum
(Monodelphis domestica)
Mammalia UTP6 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UTP6 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves UTP6 34 35
  • 69.29 (n)
lizard
(Anolis carolinensis)
Reptilia UTP6 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia utp6 34
  • 60.13 (n)
Str.1163 34
African clawed frog
(Xenopus laevis)
Amphibia MGC53963 34
zebrafish
(Danio rerio)
Actinopterygii utp6 34 35
  • 59.09 (n)
zgc55648 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008427 34
  • 41.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7246 34 35
  • 40.66 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP6 35 37
  • 23 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G28200 34
  • 43.49 (n)
rice
(Oryza sativa)
Liliopsida Os02g0103900 34
  • 43.54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5527 35
  • 37 (a)
OneToOne
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

ENSEMBL:
Gene Tree for UTP6 (if available)
TreeFam:
Gene Tree for UTP6 (if available)

Paralogs for UTP6 Gene

Pseudogenes.org 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 Sequence Context AA Info Type
rs1000077478 -- 31,862,060(+) GGAGG(C/T)CAAGG downstream-variant-500B
rs1000106250 -- 31,882,862(+) CTCAC(A/G)GCAGC intron-variant
rs1000138850 -- 31,882,123(+) CCTCC(C/T)GGGTT intron-variant
rs1000177389 -- 31,885,297(+) CCACC(A/G)CCACA intron-variant
rs1000195681 -- 31,891,043(+) CTTTG(C/T)CCTTC 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)

Relevant External Links for UTP6 Gene

Human Gene Mutation Database (HGMD)
UTP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UTP6

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

Disorders for UTP6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for UTP6 Gene - From: DISEASES and GeneCards

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

Relevant External Links for UTP6

Genetic Association Database (GAD)
UTP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 D.E. … Thiel G. (Genomics 2000) 2 3 4 64
  2. Mammalian HCA66 protein is required for both ribosome synthesis and centriole duplication. (PMID: 22434888) Bonnart C. … Henras A.K. (Nucleic Acids Res. 2012) 2 3 64
  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 J.L. (Cell Death Differ. 2007) 3 22 64
  4. Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. (PMID: 16138909) Venturin M. … Riva P. (Ann. Hum. Genet. 2005) 2 3 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for UTP6 Gene

Sources for UTP6 Gene

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