Aliases for PUSL1 Gene

Aliases for PUSL1 Gene

  • Pseudouridine Synthase Like 1 2 3 5
  • TRNA Pseudouridylate Synthase-Like 1 3 4
  • TRNA Pseudouridine Synthase-Like 1 3 4
  • Pseudouridylate Synthase Like 1 2 3
  • TRNA-Uridine Isomerase-Like 1 3 4
  • EC 5.4.99.- 4
  • FLJ90811 2
  • PUSL1 5

External Ids for PUSL1 Gene

Previous GeneCards Identifiers for PUSL1 Gene

  • GC01P001283
  • GC01P001233
  • GC01P000515

Summaries for PUSL1 Gene

GeneCards Summary for PUSL1 Gene

PUSL1 (Pseudouridine Synthase Like 1) is a Protein Coding gene. Diseases associated with PUSL1 include Myopathy, Lactic Acidosis, And Sideroblastic Anemia. Gene Ontology (GO) annotations related to this gene include RNA binding and pseudouridine synthase activity. An important paralog of this gene is PUS3.

Additional gene information for PUSL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PUSL1 Gene

Genomics for PUSL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PUSL1 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
GH01J001304 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 610.9 -1.7 -1740 7.6 CEBPG HNRNPL CREB1 ZBTB33 ATF7 PRDM10 ZNF629 TFE3 LEF1 IKZF1 PUSL1 ACAP3 lnc-INTS11-1 ATAD3B INTS11 ENSG00000240731 LINC00115 SLC35E2A CCNL2 LINC01409
GH01J001428 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 +124.9 124913 10.5 HNRNPL GATAD2A CTCF ZBTB33 REST TFE3 LEF1 SOX13 IKZF1 NFKBIZ VWA1 LINC01770 LOC107985729 ATAD3B CCNL2 ENSG00000269737 RER1 CDK11A ATAD3C ENSG00000230092
GH01J001775 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.1 +471.0 470963 8.6 SP1 HNRNPL GATAD2A CTCF PRDM10 ZNF629 REST LEF1 IKZF1 ZNF692 NADK lnc-NADK-1 INTS11 CCNL2 CDK11A ENSG00000240731 ENSG00000269737 ATAD3B SDF4 ENSG00000230092
GH01J000997 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -308.6 -308622 5.3 ZNF221 RNF2 CEBPG SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 PRDM10 ENSG00000272512 ISG15 HES4 INTS11 ATAD3B ENSG00000240731 WASH7P CCNL2 ENSG00000230092 CDK11A
GH01J001269 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 -35.9 -35886 5.8 SP1 CREB1 HNRNPL SIX5 NFKBIZ KDM1A ZNF692 POLR2A BACH1 LARP7 UBE2J2 LINC01786 lnc-C1QTNF12-1 ENSG00000230092 CDK11A ENSG00000269737 ATAD3B ENSG00000237094 CCNL2 INTS11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PUSL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PUSL1

Top Transcription factor binding sites by QIAGEN in the PUSL1 gene promoter:
  • E47
  • Egr-3
  • Evi-1
  • HEN1
  • HTF
  • NRSF form 1
  • NRSF form 2
  • SRF
  • ZID

Genomic Locations for PUSL1 Gene

Genomic Locations for PUSL1 Gene
chr1:1,308,563-1,311,677
(GRCh38/hg38)
Size:
3,115 bases
Orientation:
Plus strand
chr1:1,243,947-1,247,057
(GRCh37/hg19)
Size:
3,111 bases
Orientation:
Plus strand

Genomic View for PUSL1 Gene

Genes around PUSL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PUSL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PUSL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PUSL1 Gene

Proteins for PUSL1 Gene

  • Protein details for PUSL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N0Z8-PUSL1_HUMAN
    Recommended name:
    tRNA pseudouridine synthase-like 1
    Protein Accession:
    Q8N0Z8
    Secondary Accessions:
    • B4DP76
    • Q5TA41

    Protein attributes for PUSL1 Gene

    Size:
    303 amino acids
    Molecular mass:
    33233 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PUSL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PUSL1 Gene

Post-translational modifications for PUSL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PUSL1 Gene

No data available for DME Specific Peptides for PUSL1 Gene

Domains & Families for PUSL1 Gene

Gene Families for PUSL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PUSL1 Gene

Suggested Antigen Peptide Sequences for PUSL1 Gene

GenScript: Design optimal peptide antigens:
  • tRNA-uridine isomerase-like 1 (PUSL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N0Z8

UniProtKB/Swiss-Prot:

PUSL1_HUMAN :
  • Belongs to the tRNA pseudouridine synthase TruA family.
Family:
  • Belongs to the tRNA pseudouridine synthase TruA family.
genes like me logo Genes that share domains with PUSL1: view

Function for PUSL1 Gene

Molecular function for PUSL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a uridine in tRNA = a pseudouridine in tRNA; Xref=Rhea:RHEA:54572, Rhea:RHEA-COMP:13339, Rhea:RHEA-COMP:13934, ChEBI:CHEBI:65314, ChEBI:CHEBI:65315;.

Enzyme Numbers (IUBMB) for PUSL1 Gene

Phenotypes From GWAS Catalog for PUSL1 Gene

Gene Ontology (GO) - Molecular Function for PUSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0009982 pseudouridine synthase activity IEA,IBA 21873635
GO:0016853 isomerase activity IEA --
GO:0106029 tRNA pseudouridine synthase activity IEA --
genes like me logo Genes that share ontologies with PUSL1: view
genes like me logo Genes that share phenotypes with PUSL1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PUSL1

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PUSL1 Gene

Localization for PUSL1 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 PUSL1 gene
Compartment Confidence
mitochondrion 2
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PUSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with PUSL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PUSL1 Gene

Pathways & Interactions for PUSL1 Gene

PathCards logo

SuperPathways for PUSL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PUSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001522 pseudouridine synthesis IEA --
GO:0008033 tRNA processing IEA --
GO:0009451 RNA modification IEA --
GO:0031119 tRNA pseudouridine synthesis IBA 21873635
genes like me logo Genes that share ontologies with PUSL1: view

No data available for Pathways by source and SIGNOR curated interactions for PUSL1 Gene

Drugs & Compounds for PUSL1 Gene

(1) Drugs for PUSL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine Experimental, Investigational Pharma 0

(1) Additional Compounds for PUSL1 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 PUSL1: view

Transcripts for PUSL1 Gene

mRNA/cDNA for PUSL1 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PUSL1

Alternative Splicing Database (ASD) splice patterns (SP) for PUSL1 Gene

No ASD Table

Relevant External Links for PUSL1 Gene

GeneLoc Exon Structure for
PUSL1

Expression for PUSL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PUSL1 Gene

Protein differential expression in normal tissues from HIPED for PUSL1 Gene

This gene is overexpressed in Lung (41.1), Retina (8.6), and Testis (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PUSL1 Gene



Protein tissue co-expression partners for PUSL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PUSL1

SOURCE GeneReport for Unigene cluster for PUSL1 Gene:

Hs.400659

Evidence on tissue expression from TISSUES for PUSL1 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with PUSL1: 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 PUSL1 Gene

Orthologs for PUSL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PUSL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PUSL1 30 31
  • 99.19 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PUSL1 30 31
  • 82.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pusl1 30 17 31
  • 80.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PUSL1 30 31
  • 79.71 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pusl1 30
  • 79.3 (n)
Chicken
(Gallus gallus)
Aves PUSL1 30 31
  • 55.99 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PUSL1 31
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pusl1 30
  • 56.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC555828 30
  • 53.01 (n)
PUSL1 31
  • 49 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG34140 30 31
  • 47.78 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009903 30
  • 46.43 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G09800 30
  • 44.4 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0194800 30
  • 46.31 (n)
Species where no ortholog for PUSL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 PUSL1 Gene

ENSEMBL:
Gene Tree for PUSL1 (if available)
TreeFam:
Gene Tree for PUSL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PUSL1: view image

Paralogs for PUSL1 Gene

Paralogs for PUSL1 Gene

genes like me logo Genes that share paralogs with PUSL1: view

Variants for PUSL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PUSL1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs12094447 - p.Arg103Gln
rs34738574 - p.Arg197Trp

Additional dbSNP identifiers (rs#s) for PUSL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PUSL1 Gene

Variant ID Type Subtype PubMed ID
dgv2n67 CNV gain 20364138
dgv6n100 CNV gain+loss 25217958
dgv7n100 CNV loss 25217958
esv2758912 CNV loss 17122850
esv3890636 CNV loss 25118596
nsv1000169 CNV gain 25217958
nsv1009541 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1160772 CNV duplication 26073780
nsv1160788 CNV deletion 26073780
nsv469848 CNV gain 16826518
nsv470680 CNV loss 18288195
nsv482937 CNV loss 15286789
nsv544969 CNV loss 21841781
nsv544971 CNV loss 21841781
nsv950452 CNV deletion 24416366
nsv997291 CNV gain 25217958

Variation tolerance for PUSL1 Gene

Residual Variation Intolerance Score: 71.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.38; 71.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PUSL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PUSL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PUSL1 Gene

Disorders for PUSL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PUSL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
myopathy, lactic acidosis, and sideroblastic anemia
  • myopathy with lactic acidosis and sideroblastic anaemia
- elite association - COSMIC cancer census association via MalaCards
Search PUSL1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with PUSL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PUSL1 Gene

Publications for PUSL1 Gene

  1. The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules. (PMID: 28082677) Zaganelli S … Martinou JC (The Journal of biological chemistry 2017) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. A SARS-CoV-2 protein interaction map reveals targets for drug repurposing. (PMID: 32353859) Gordon DE … Krogan NJ (Nature 2020) 3
  5. POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1. (PMID: 30745168) Wang B … Liu Y (EBioMedicine 2019) 3

Products for PUSL1 Gene

Sources for PUSL1 Gene