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Aliases for PUS7L Gene

Aliases for PUS7L Gene

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

External Ids for PUS7L Gene

Previous GeneCards Identifiers for PUS7L Gene

  • GC12M042409
  • GC12M044122
  • GC12M041149

Summaries for PUS7L Gene

GeneCards Summary for PUS7L Gene

PUS7L (Pseudouridylate Synthase 7 Like) is a Protein Coding gene. GO annotations related to this gene include RNA binding and pseudouridine synthase activity. An important paralog of this gene is PUS7.

Gene Wiki entry for PUS7L Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PUS7L Gene

Genomics for PUS7L Gene

Regulatory Elements for PUS7L Gene

Enhancers for PUS7L 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
GH12G043804 1.1 ENCODE 10.8 -47.5 -47460 2.7 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 ZNF143 ZNF207 KLF13 PUS7L IRAK4 TWF1 TMEM117
GH12G043795 0.8 ENCODE 11 -37.4 -37377 0.9 ESRRA FOXA2 FEZF1 CEBPG BMI1 RAD21 CTBP1 GATA3 FOS NR2F6 IRAK4 PUS7L TWF1 TMEM117
GH12G043882 0.6 ENCODE 10.3 -123.9 -123936 0.2 CTCF ZNF654 ZNF362 TRIM22 REST RAD21 ZNF664 KLF16 SMC3 ZNF143 TMEM117 TWF1 IRAK4 PUS7L GC12M044008
GH12G043737 0.4 ENCODE 12.4 +21.0 20985 0.2 JUND PUS7L IRAK4 ENSG00000257896
GH12G043740 0.5 ENCODE 0.4 +16.8 16811 2.7 HIC1 JUND FOS SPI1 ENSG00000257896 PUS7L
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PUS7L on UCSC Golden Path with GeneCards custom track

Promoters for PUS7L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000051069 -183 2001 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A YY1 ZNF143 DEK SP3 ZHX2

Genomic Location for PUS7L Gene

Chromosome:
12
Start:
43,718,993 bp from pter
End:
43,758,817 bp from pter
Size:
39,825 bases
Orientation:
Minus strand

Genomic View for PUS7L Gene

Genes around PUS7L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PUS7L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PUS7L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PUS7L Gene

Proteins for PUS7L Gene

  • Protein details for PUS7L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0K6-PUS7L_HUMAN
    Recommended name:
    Pseudouridylate synthase 7 homolog-like protein
    Protein Accession:
    Q9H0K6
    Secondary Accessions:
    • B3KUJ1
    • Q05CU0
    • Q6AHZ3
    • Q6NUP2

    Protein attributes for PUS7L Gene

    Size:
    701 amino acids
    Molecular mass:
    80700 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH20781.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for PUS7L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PUS7L Gene

Post-translational modifications for PUS7L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PUS7L Gene

Domains & Families for PUS7L Gene

Suggested Antigen Peptide Sequences for PUS7L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H0K6

UniProtKB/Swiss-Prot:

PUS7L_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 PUS7L: view

No data available for Gene Families for PUS7L Gene

Function for PUS7L Gene

Molecular function for PUS7L Gene

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

Enzyme Numbers (IUBMB) for PUS7L Gene

Gene Ontology (GO) - Molecular Function for PUS7L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0009982 pseudouridine synthase activity IEA,IBA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with PUS7L: view
genes like me logo Genes that share phenotypes with PUS7L: view

Animal Model Products

CRISPR Products

miRNA for PUS7L Gene

miRTarBase miRNAs that target PUS7L

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PUS7L Gene

Localization for PUS7L 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 PUS7L gene
Compartment Confidence
nucleus 3
cytosol 2
endosome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PUS7L Gene

Pathways & Interactions for PUS7L Gene

SuperPathways for PUS7L Gene

No Data Available

Gene Ontology (GO) - Biological Process for PUS7L 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 PUS7L: view

No data available for Pathways by source and SIGNOR curated interactions for PUS7L Gene

Drugs & Compounds for PUS7L Gene

(1) Additional Compounds for PUS7L 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 PUS7L: view

Transcripts for PUS7L Gene

Unigene Clusters for PUS7L Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for PUS7L Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b
SP1: - - - - -
SP2: -
SP3:
SP4: - -
SP5: - - -
SP6: -

Relevant External Links for PUS7L Gene

GeneLoc Exon Structure for
PUS7L
ECgene alternative splicing isoforms for
PUS7L

Expression for PUS7L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PUS7L Gene

Protein differential expression in normal tissues from HIPED for PUS7L Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (48.1) and Brain (19.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PUS7L Gene



Protein tissue co-expression partners for PUS7L Gene

NURSA nuclear receptor signaling pathways regulating expression of PUS7L Gene:

PUS7L

SOURCE GeneReport for Unigene cluster for PUS7L Gene:

Hs.445814

Evidence on tissue expression from TISSUES for PUS7L Gene

  • Nervous system(4.2)
  • Stomach(4.1)
genes like me logo Genes that share expression patterns with PUS7L: view

Primer Products

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 PUS7L Gene

Orthologs for PUS7L Gene

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

Orthologs for PUS7L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PUS7L 34 35
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia PUS7L 34 35
  • 87.66 (n)
cow
(Bos Taurus)
Mammalia PUS7L 34 35
  • 87.14 (n)
mouse
(Mus musculus)
Mammalia Pus7l 34 16 35
  • 76.89 (n)
rat
(Rattus norvegicus)
Mammalia Pus7l 34
  • 76.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 66 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves PUS7L 34 35
  • 62.35 (n)
lizard
(Anolis carolinensis)
Reptilia PUS7L 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pus7l 34
  • 61.85 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13328 34
zebrafish
(Danio rerio)
Actinopterygii pus7l 34 35
  • 58.2 (n)
wufi64f08 34
worm
(Caenorhabditis elegans)
Secernentea B0024.11 35
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUS7 35
  • 20 (a)
OneToMany
Species where no ortholog for PUS7L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 PUS7L Gene

ENSEMBL:
Gene Tree for PUS7L (if available)
TreeFam:
Gene Tree for PUS7L (if available)

Paralogs for PUS7L Gene

Paralogs for PUS7L Gene

(1) SIMAP similar genes for PUS7L Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with PUS7L: view

Variants for PUS7L Gene

Sequence variations from dbSNP and Humsavar for PUS7L Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs570128219 Uncertain significance 43,758,960(+) GCGGC(A/G)CTTCC upstream-variant-2KB, utr-variant-5-prime
rs886049382 Uncertain significance 43,758,951(+) CGCCC(C/T)TTCGC upstream-variant-2KB, utr-variant-5-prime
rs886049383 Uncertain significance 43,758,972(+) AGTTC(A/G)GCTGG upstream-variant-2KB, utr-variant-5-prime
rs886049384 Uncertain significance 43,759,010(+) GCGCC(C/G)GGGCA upstream-variant-2KB, utr-variant-5-prime
rs1000160876 -- 43,744,479(+) CTTCT(A/G)CCATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PUS7L Gene

Variant ID Type Subtype PubMed ID
esv3306391 CNV mobile element insertion 20981092
esv3360540 CNV insertion 20981092
esv3629351 CNV loss 21293372
nsv558750 CNV gain 21841781

Variation tolerance for PUS7L Gene

Residual Variation Intolerance Score: 98.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.56; 82.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PUS7L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PUS7L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PUS7L Gene

Disorders for PUS7L Gene

Relevant External Links for PUS7L

Genetic Association Database (GAD)
PUS7L
Human Genome Epidemiology (HuGE) Navigator
PUS7L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PUS7L

No disorders were found for PUS7L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PUS7L Gene

Publications for PUS7L Gene

  1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for PUS7L Gene

Sources for PUS7L Gene

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