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Aliases for PUSL1 Gene

Aliases for PUSL1 Gene

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

External Ids for PUSL1 Gene

Previous GeneCards Identifiers for PUSL1 Gene

  • GC01P001283
  • GC01P001233
  • GC01P000515

Summaries for PUSL1 Gene

GeneCards Summary for PUSL1 Gene

PUSL1 (Pseudouridylate Synthase-Like 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include RNA binding and pseudouridine synthase activity.

Additional gene information for PUSL1 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 PUSL1 Gene

Genomics for PUSL1 Gene

GeneHancer (GH) Regulatory Elements for PUSL1 Gene

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
GH01I001303 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 561 -1.4 -1362 6.9 PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 PUSL1 ACAP3 ATAD3B CCNL2 ANKRD65 SCNN1D ENSG00000240731 INTS11 ENSG00000272455 LOC100288379
GH01I001269 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11.5 -36.1 -36075 5.5 PKNOX1 CLOCK ARID4B SIN3A ZNF2 ZBTB7B YY1 SLC30A9 POLR2B ZNF207 UBE2J2 LINC01786 ENSG00000230092 CDK11A ENSG00000237094 INTS11 LOC100288069 LOC100288379 ATAD3B CDK11B
GH01I000998 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.3 -308.1 -308078 3.8 CLOCK MLX FEZF1 DMAP1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ISG15 HES4 ATAD3B ENSG00000230092 WASH7P INTS11 ENSG00000272512 LINC01786 CCNL2 ENSG00000272455
GH01I001888 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.1 +584.4 584442 9.9 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ZNF207 GC01M001889 GNB1 LOC105378949 ATAD3B CCNL2 CALML6 FAAP20 INTS11 ENSG00000234396 ENSG00000240731
GH01I001405 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.4 +98.5 98483 3.6 HDGF PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 MRPL20 GC01P001407 RN7SL657P ATAD3B LOC100288379 INTS11 CCNL2 ENSG00000230092 CDK11A ANKRD65
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PUSL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PUSL1 gene promoter:

Genomic Locations for PUSL1 Gene

Genomic Locations for PUSL1 Gene
chr1:1,308,567-1,311,677
(GRCh38/hg38)
Size:
3,111 bases
Orientation:
Plus strand
chr1:1,243,947-1,247,057
(GRCh37/hg19)

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

No Post-translational modifications

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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PUSL1 Gene

GenScript: Design optimal peptide antigens:

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:
tRNA uridine = tRNA pseudouridine.

Enzyme Numbers (IUBMB) 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 --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with PUSL1: view

Phenotypes for PUSL1 Gene

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

Animal Model Products

Clone Products

No data available for Phenotypes From GWAS Catalog , 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

SuperPathways for PUSL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PUSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008033 tRNA processing IEA --
GO:0009451 RNA modification IEA --
GO:0031119 tRNA pseudouridine synthesis IBA --
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
  • 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 PUSL1: view

Transcripts for PUSL1 Gene

Unigene Clusters for PUSL1 Gene

Pseudouridylate synthase-like 1:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for PUSL1 Gene

GeneLoc Exon Structure for
PUSL1
ECgene alternative splicing isoforms for
PUSL1

Expression for PUSL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for PUSL1 Gene



Protein tissue co-expression partners for PUSL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PUSL1 Gene:

PUSL1

SOURCE GeneReport for Unigene cluster for PUSL1 Gene:

Hs.400659

Evidence on tissue expression from TISSUES for PUSL1 Gene

  • Skin(4.1)
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 33 34
  • 99.19 (n)
cow
(Bos Taurus)
Mammalia PUSL1 33 34
  • 82.81 (n)
mouse
(Mus musculus)
Mammalia Pusl1 33 16 34
  • 80.64 (n)
dog
(Canis familiaris)
Mammalia PUSL1 33 34
  • 79.71 (n)
rat
(Rattus norvegicus)
Mammalia Pusl1 33
  • 79.3 (n)
chicken
(Gallus gallus)
Aves PUSL1 33 34
  • 55.99 (n)
lizard
(Anolis carolinensis)
Reptilia PUSL1 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pusl1 33
  • 56.56 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC555828 33
  • 53.01 (n)
PUSL1 34
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG34140 33 34
  • 47.78 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009903 33
  • 46.43 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G09800 33
  • 44.4 (n)
rice
(Oryza sativa)
Liliopsida Os12g0194800 33
  • 46.31 (n)
Species where no ortholog for PUSL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • 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)

Paralogs for PUSL1 Gene

No data available for Paralogs for PUSL1 Gene

Variants for PUSL1 Gene

Sequence variations from dbSNP and Humsavar for PUSL1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000013557 -- 1,307,957(+) G/C upstream_transcript_variant
rs1000473668 -- 1,309,380(+) G/A intron_variant
rs1000778377 -- 1,308,812(+) C/T intron_variant
rs1001132193 -- 1,307,695(+) A/C upstream_transcript_variant
rs1001242875 -- 1,311,218(+) C/G downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

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

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

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

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

Disorders for PUSL1 Gene

Additional Disease Information for PUSL1

No disorders were found for PUSL1 Gene.

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

Publications for PUSL1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. 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
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X … Chen J (Molecular systems biology 2015) 3 58

Products for PUSL1 Gene

Sources for PUSL1 Gene

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