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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 Homolog-Like Protein 3
  • 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. Diseases associated with PUS7L include Irak4 Deficiency. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for PUS7L Gene

Promoters and enhancers for PUS7L 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
GH12J043757 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -0.4 -403 3 PKNOX1 ARID4B SIN3A YY1 POLR2B ZNF213 ZNF143 DEK SP3 ZHX2 PUS7L IRAK4 TWF1 TMEM117
GH12J043804 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.8 -47.4 -47400 2.8 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ZNF213 ZNF207 TWF1 PUS7L IRAK4 TMEM117
GH12J043795 Enhancer 0.7 ENCODE 11 -37.4 -37377 0.9 NCOA3 ESRRA FOXA2 NEUROD1 FEZF1 CEBPG BMI1 CTBP1 GATA3 NR2F6 TMEM117 IRAK4 PUS7L TWF1
GH12J043882 Enhancer 0.6 ENCODE 10.3 -123.9 -123936 0.2 CTCF IRF2 ZNF654 ZNF362 TRIM22 REST RAD21 ZNF664 ATF3 KLF16 TMEM117 TWF1 IRAK4 PUS7L GC12M044008
GH12J043737 Enhancer 0.3 ENCODE 12.4 +21.0 20984 0.2 JUND ENSG00000257896 IRAK4 PUS7L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PUS7L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PUS7L gene promoter:
  • ATF-2
  • IRF-7A
  • Pax-2
  • Pax-2a

Genomic Locations for PUS7L Gene

Genomic Locations for PUS7L Gene
chr12:43,718,993-43,758,817
(GRCh38/hg38)
Size:
39,825 bases
Orientation:
Minus strand
chr12:44,122,410-44,152,620
(GRCh37/hg19)
Size:
30,211 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

Gene Families for PUS7L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Function for PUS7L Gene

Molecular function for PUS7L Gene

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

Enzyme Numbers (IUBMB) for PUS7L Gene

Phenotypes From GWAS Catalog 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 IBA,IEA --
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

miRNA for PUS7L Gene

miRTarBase miRNAs that target PUS7L

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PUS7L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with PUS7L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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
  • (1S)-1,4-anhydro-1-(2,4-dioxo-1,2,3,4-Tetrahydropyrimidin-5-yl)-D-ribitol
  • 5-(beta-D-Ribofuranosyl)uracil
  • beta-Pseudouridine
  • p
  • Psi-uridine
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:

Clone Products

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, 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

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 33
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PUS7L 34 33
  • 87.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PUS7L 34 33
  • 87.14 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pus7l 16 34 33
  • 76.89 (n)
rat
(Rattus norvegicus)
Mammalia Pus7l 33
  • 76.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 66 (a)
OneToMany
-- 34
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves PUS7L 34 33
  • 62.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PUS7L 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pus7l 33
  • 61.85 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13328 33
zebrafish
(Danio rerio)
Actinopterygii pus7l 34 33
  • 58.2 (n)
OneToOne
wufi64f08 33
worm
(Caenorhabditis elegans)
Secernentea B0024.11 34
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUS7 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PUS7L: view image

Paralogs for PUS7L Gene

Paralogs for PUS7L Gene

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

  • PUS7L_HUMAN
  • B3KUJ1_HUMAN
  • F8VP66_HUMAN
  • F8VW99_HUMAN
  • F8VWC0_HUMAN
  • F8VZA0_HUMAN
  • L8EB78_HUMAN
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 Variation AA Info Type
rs570128219 uncertain-significance, IRAK4 deficiency 43,758,960(-) G/A upstream_transcript_variant
rs886049382 uncertain-significance, IRAK4 deficiency 43,758,951(-) C/T upstream_transcript_variant
rs886049383 uncertain-significance, IRAK4 deficiency 43,758,972(-) G/A upstream_transcript_variant
rs886049384 uncertain-significance, IRAK4 deficiency 43,759,010(-) C/G upstream_transcript_variant
rs1000160876 -- 43,744,479(-) G/A 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)

Additional Variant Information for PUS7L Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PUS7L Gene

MalaCards: The human disease database

(1) MalaCards diseases for PUS7L Gene - From: GeneCards

Disorder Aliases PubMed IDs
irak4 deficiency
  • irak4d
- elite association - COSMIC cancer census association via MalaCards
Search PUS7L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PUS7L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PUS7L: view

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

Publications for PUS7L Gene

  1. Toward 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 research 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. 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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for PUS7L Gene

Sources for PUS7L Gene

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