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Aliases for PUS7 Gene

Aliases for PUS7 Gene

  • Pseudouridylate Synthase 7 (Putative) 2 3 5
  • Pseudouridylate Synthase 7 Homolog (S. Cerevisiae) 2
  • EC 5.4.99.- 4
  • KIAA1897 4

External Ids for PUS7 Gene

Previous GeneCards Identifiers for PUS7 Gene

  • GC07M104884
  • GC07M105080
  • GC07M099455

Summaries for PUS7 Gene

GeneCards Summary for PUS7 Gene

PUS7 (Pseudouridylate Synthase 7 (Putative)) is a Protein Coding gene. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is PUS7L.

Additional gene information for PUS7 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PUS7 Gene

Genomics for PUS7 Gene

GeneHancer (GH) Regulatory Elements for PUS7 Gene

Promoters and enhancers for PUS7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I105520 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 558.7 +0.4 366 2.2 HDGF CLOCK ARNT MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 PUS7 ATXN7L1 RINT1 KMT2E-AS1 LOC100131785 ENSG00000272604 GC07P105482
GH07I105509 Promoter 0.5 EPDnew 550.4 +12.8 12800 0.1 PUS7 LOC100131785 RNU6-1322P GC07P105482
GH07I105005 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 20.9 +510.0 509963 12.7 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 KMT2E LINC01004 RINT1 ATXN7L1 EIF4BP6 KMT2E-AS1 ORC5 PUS7 YBX1P2 SRPK2
GH07I106009 Enhancer 1.4 Ensembl ENCODE dbSUPER 20.9 -487.9 -487922 2.1 PKNOX1 CLOCK SIN3A ZNF2 ZBTB7B ZNF213 ZNF416 ZNF143 FOS KLF13 RINT1 PUS7 KMT2E ENSG00000280439 GC07P105932 CDHR3
GH07I106281 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.6 -762.0 -761972 4.9 HDGF FOXA2 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A YBX1 DMAP1 NAMPT ENSG00000273320 GC07M106278 ENSG00000272072 RINT1 HBP1 ATXN7L1 PUS7 RNU6-392P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PUS7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PUS7 gene promoter:

Genomic Locations for PUS7 Gene

Genomic Locations for PUS7 Gene
chr7:105,439,661-105,522,267
(GRCh38/hg38)
Size:
82,607 bases
Orientation:
Minus strand
chr7:105,080,108-105,162,714
(GRCh37/hg19)

Genomic View for PUS7 Gene

Genes around PUS7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PUS7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PUS7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PUS7 Gene

Proteins for PUS7 Gene

  • Protein details for PUS7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PZ0-PUS7_HUMAN
    Recommended name:
    Pseudouridylate synthase 7 homolog
    Protein Accession:
    Q96PZ0
    Secondary Accessions:
    • Q75MG4
    • Q9NX19

    Protein attributes for PUS7 Gene

    Size:
    661 amino acids
    Molecular mass:
    75035 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91203.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PUS7 Gene

neXtProt entry for PUS7 Gene

Post-translational modifications for PUS7 Gene

  • Ubiquitination at Lys278, Lys318, and Lys324
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PUS7 Gene

Domains & Families for PUS7 Gene

Gene Families for PUS7 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PUS7 Gene

Graphical View of Domain Structure for InterPro Entry

Q96PZ0

UniProtKB/Swiss-Prot:

PUS7_HUMAN :
  • Belongs to the pseudouridine synthase TruD family.
Family:
  • Belongs to the pseudouridine synthase TruD family.
genes like me logo Genes that share domains with PUS7: view

Function for PUS7 Gene

Molecular function for PUS7 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
tRNA uridine = tRNA pseudouridine.

Enzyme Numbers (IUBMB) for PUS7 Gene

Phenotypes From GWAS Catalog for PUS7 Gene

Gene Ontology (GO) - Molecular Function for PUS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA,HDA 22658674
GO:0009982 pseudouridine synthase activity IBA,IEA --
GO:0016853 isomerase activity IEA --
GO:0019899 enzyme binding IPI 23382074
genes like me logo Genes that share ontologies with PUS7: view
genes like me logo Genes that share phenotypes with PUS7: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PUS7 Gene

Localization for PUS7 Gene

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 PUS7 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PUS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with PUS7: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PUS7 Gene

Pathways & Interactions for PUS7 Gene

genes like me logo Genes that share pathways with PUS7: view

Pathways by source for PUS7 Gene

Gene Ontology (GO) - Biological Process for PUS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001522 pseudouridine synthesis IBA --
GO:0008033 tRNA processing IEA --
GO:0009451 RNA modification IEA --
genes like me logo Genes that share ontologies with PUS7: view

No data available for SIGNOR curated interactions for PUS7 Gene

Drugs & Compounds for PUS7 Gene

(1) Additional Compounds for PUS7 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pseudouridine
  • 5-(b-D-Ribofuranosyl)uracil
  • 5-(b-delta-Ribofuranosyl)uracil
  • 5-b-D-Ribofuranosyl-Uracil
  • 5-beta-delta-Ribofuranosyl-Uracil
  • 5-Ribosyluracil
1445-07-4
genes like me logo Genes that share compounds with PUS7: view

Transcripts for PUS7 Gene

Unigene Clusters for PUS7 Gene

Pseudouridylate synthase 7 homolog (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PUS7 Gene

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

Relevant External Links for PUS7 Gene

GeneLoc Exon Structure for
PUS7
ECgene alternative splicing isoforms for
PUS7

Expression for PUS7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PUS7 Gene

Protein differential expression in normal tissues from HIPED for PUS7 Gene

This gene is overexpressed in Breast (19.1) and Liver, secretome (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PUS7 Gene



Protein tissue co-expression partners for PUS7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PUS7 Gene:

PUS7

SOURCE GeneReport for Unigene cluster for PUS7 Gene:

Hs.520619

Evidence on tissue expression from TISSUES for PUS7 Gene

  • Nervous system(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with PUS7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PUS7 Gene

Orthologs for PUS7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PUS7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PUS7 33 34
  • 99.95 (n)
dog
(Canis familiaris)
Mammalia PUS7 33
  • 89.76 (n)
cow
(Bos Taurus)
Mammalia PUS7 33 34
  • 88.06 (n)
mouse
(Mus musculus)
Mammalia Pus7 33 16 34
  • 84.63 (n)
rat
(Rattus norvegicus)
Mammalia Pus7 33
  • 84.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PUS7 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PUS7 33 34
  • 78.09 (n)
lizard
(Anolis carolinensis)
Reptilia PUS7 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pus7 33
  • 73.03 (n)
Str.6483 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.28718 33
zebrafish
(Danio rerio)
Actinopterygii pus7 33 34
  • 66.61 (n)
Dr.14734 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005743 33
  • 47.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6745 33 34
  • 47.62 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F11253g 33
  • 52.77 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR136C 33
  • 50.31 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUS7 33 34 36
  • 50.03 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G04820 33
  • 49.69 (n)
rice
(Oryza sativa)
Liliopsida Os05g0509300 33
  • 46.76 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1A4.09 33
  • 49.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2343 34
  • 38 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.101 33
Species where no ortholog for PUS7 was found in the sources mined by GeneCards:
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 PUS7 Gene

ENSEMBL:
Gene Tree for PUS7 (if available)
TreeFam:
Gene Tree for PUS7 (if available)

Paralogs for PUS7 Gene

Paralogs for PUS7 Gene

(1) SIMAP similar genes for PUS7 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for PUS7 Gene

genes like me logo Genes that share paralogs with PUS7: view

Variants for PUS7 Gene

Sequence variations from dbSNP and Humsavar for PUS7 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000066699 -- 105,469,613(-) C/T intron_variant
rs1000127028 -- 105,483,635(-) G/C intron_variant
rs1000142579 -- 105,476,833(-) C/T intron_variant
rs1000274072 -- 105,502,274(-) C/T intron_variant
rs1000329436 -- 105,463,160(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PUS7 Gene

Variant ID Type Subtype PubMed ID
dgv237e55 CNV gain 17911159
dgv6547n100 CNV gain 25217958
esv2734973 CNV deletion 23290073
esv2759549 CNV gain 17122850
esv3542220 CNV deletion 23714750
esv3614417 CNV gain 21293372
esv3614423 CNV gain 21293372
esv3614424 CNV gain 21293372
esv3614426 CNV gain 21293372
esv3891174 CNV gain 25118596
nsv1023564 CNV gain 25217958
nsv1029832 CNV gain 25217958
nsv1114994 CNV deletion 24896259
nsv1117751 CNV deletion 24896259
nsv1120163 OTHER inversion 24896259
nsv464668 CNV gain 19166990
nsv608069 CNV gain 21841781
nsv8196 CNV gain 18304495
nsv8197 CNV gain 18304495

Variation tolerance for PUS7 Gene

Residual Variation Intolerance Score: 7.33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.10; 38.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PUS7 Gene

Human Gene Mutation Database (HGMD)
PUS7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PUS7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PUS7 Gene

Disorders for PUS7 Gene

Additional Disease Information for PUS7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PUS7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PUS7 Gene

Publications for PUS7 Gene

  1. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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 58
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58

Products for PUS7 Gene

Sources for PUS7 Gene

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