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Aliases for RPUSD1 Gene

Aliases for RPUSD1 Gene

  • RNA Pseudouridylate Synthase Domain Containing 1 2 3 5
  • Ribosomal Large Subunit Pseudouridine Synthase C-Like Protein 3 4
  • C16orf40 3 4
  • RLUCL 3 4
  • RNA Pseudouridylate Synthase Domain-Containing Protein 1 3
  • Chromosome 16 Open Reading Frame 40 2

External Ids for RPUSD1 Gene

Previous HGNC Symbols for RPUSD1 Gene

  • C16orf40

Previous GeneCards Identifiers for RPUSD1 Gene

  • GC16M000779
  • GC16M000834
  • GC16M000756
  • GC16M000802
  • GC16M000822
  • GC16M000841
  • GC16M000866
  • GC16M000871
  • GC16M000904

Summaries for RPUSD1 Gene

GeneCards Summary for RPUSD1 Gene

RPUSD1 (RNA Pseudouridylate Synthase Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include RNA binding and pseudouridine synthase activity.

Additional gene information for RPUSD1 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 RPUSD1 Gene

Genomics for RPUSD1 Gene

Regulatory Elements for RPUSD1 Gene

Enhancers for RPUSD1 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
GH16H000323 2 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +462.0 461965 5.3 PKNOX1 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF416 ZNF207 FOS WDR90 LUC7L JMJD8 UBE2I ENSG00000228779 ENSG00000261505 RHOT2 WDR24 ENSG00000262528 MPG
GH16H000709 1.5 Ensembl ENCODE dbSUPER 12.6 +77.9 77897 3 ARID4B ZNF2 GLIS2 ZNF143 FOS REST MIER2 ZNF623 ZNF592 MEF2D FBXL16 CHTF18 RPUSD1 WFIKKN1 JMJD8 FAM234A WDR90 ENSG00000262528 ENSG00000279255 ENSG00000259840
GH16H001296 1.6 Ensembl ENCODE dbSUPER 10.3 -510.8 -510787 5.3 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZBTB7B YY1 ZNF766 ZNF143 FOS ENSG00000261505 UBE2I ENSG00000260051 RHOT2 ENSG00000226890 ENSG00000200059 ENSG00000260954 E4F1 BAIAP3 ENSG00000261240
GH16H000386 1.4 Ensembl ENCODE dbSUPER 6.8 +400.4 400434 3.6 HDAC1 PKNOX1 ATF1 ZBTB40 TCF12 EGR1 ATF7 ZNF362 ZEB2 REST NHLRC4 PIGQ PRR35 NME4 TMEM8A LOC100134368 RPUSD1 GC16P000448
GH16H000950 0.9 dbSUPER 10.3 -163.5 -163485 2.3 HDAC1 PKNOX1 ATF1 EGR1 SIRT6 ATF7 CREM EGR2 NCOA1 TFDP1 LUC7L LMF1-AS1 IFT140 WASH4P EME2 LMF1 ENSG00000269482 WDR90 CRAMP1 WDR24
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RPUSD1 on UCSC Golden Path with GeneCards custom track

Promoters for RPUSD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082249 -103 1401 PKNOX1 ATF1 ARID4B SIN3A ZNF2 GLIS2 ELK1 ZNF143 ZNF207 FOS

Genomic Locations for RPUSD1 Gene

Genomic Locations for RPUSD1 Gene
3,424 bases
Minus strand

Genomic View for RPUSD1 Gene

Genes around RPUSD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPUSD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPUSD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPUSD1 Gene

Proteins for RPUSD1 Gene

  • Protein details for RPUSD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    RNA pseudouridylate synthase domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • D3DU66

    Protein attributes for RPUSD1 Gene

    312 amino acids
    Molecular mass:
    34756 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RPUSD1 Gene

neXtProt entry for RPUSD1 Gene

Post-translational modifications for RPUSD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RPUSD1 Gene

Domains & Families for RPUSD1 Gene

Gene Families for RPUSD1 Gene

Protein Domains for RPUSD1 Gene

Suggested Antigen Peptide Sequences for RPUSD1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the pseudouridine synthase RluA family.
  • Belongs to the pseudouridine synthase RluA family.
genes like me logo Genes that share domains with RPUSD1: view

Function for RPUSD1 Gene

Phenotypes From GWAS Catalog for RPUSD1 Gene

Gene Ontology (GO) - Molecular Function for RPUSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003723 RNA binding IEA --
GO:0009982 pseudouridine synthase activity IBA,IEA --
GO:0019239 contributes_to deaminase activity IBA --
genes like me logo Genes that share ontologies with RPUSD1: view

Phenotypes for RPUSD1 Gene

genes like me logo Genes that share phenotypes with RPUSD1: view

Animal Model Products

miRNA for RPUSD1 Gene

miRTarBase miRNAs that target RPUSD1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RPUSD1 Gene

Localization for RPUSD1 Gene

Subcellular locations from

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 RPUSD1 gene
Compartment Confidence
cytosol 3
extracellular 2
nucleus 2
golgi apparatus 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPUSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with RPUSD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RPUSD1 Gene

Pathways & Interactions for RPUSD1 Gene

SuperPathways for RPUSD1 Gene

No Data Available

Interacting Proteins for RPUSD1 Gene

Gene Ontology (GO) - Biological Process for RPUSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000455 enzyme-directed rRNA pseudouridine synthesis IBA --
GO:0001522 pseudouridine synthesis IEA --
GO:0008150 biological_process ND --
GO:0009451 RNA modification IEA --
GO:0031119 tRNA pseudouridine synthesis IBA --
genes like me logo Genes that share ontologies with RPUSD1: view

No data available for Pathways by source and SIGNOR curated interactions for RPUSD1 Gene

Drugs & Compounds for RPUSD1 Gene

(1) Additional Compounds for RPUSD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5-(b-D-Ribofuranosyl)uracil
  • 5-(b-delta-Ribofuranosyl)uracil
  • 5-b-D-Ribofuranosyl-Uracil
  • 5-beta-delta-Ribofuranosyl-Uracil
  • 5-Ribosyluracil
genes like me logo Genes that share compounds with RPUSD1: view

Transcripts for RPUSD1 Gene

Unigene Clusters for RPUSD1 Gene

RNA pseudouridylate synthase domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPUSD1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d
SP1: - -
SP2: -
SP3: - -
SP4: - -

Relevant External Links for RPUSD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RPUSD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPUSD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPUSD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RPUSD1 Gene:


SOURCE GeneReport for Unigene cluster for RPUSD1 Gene:


Evidence on tissue expression from TISSUES for RPUSD1 Gene

  • Lung(4.2)
genes like me logo Genes that share expression patterns with RPUSD1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPUSD1 Gene

Orthologs for RPUSD1 Gene

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

Orthologs for RPUSD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RPUSD1 33 34
  • 98.82 (n)
(Bos Taurus)
Mammalia RPUSD1 33 34
  • 85.5 (n)
(Canis familiaris)
Mammalia RPUSD1 33 34
  • 82.39 (n)
(Rattus norvegicus)
Mammalia Rpusd1 33
  • 80.39 (n)
(Mus musculus)
Mammalia Rpusd1 33 16 34
  • 79.96 (n)
(Monodelphis domestica)
Mammalia RPUSD1 34
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia RPUSD1 34
  • 63 (a)
(Gallus gallus)
Aves RPUSD1 33 34
  • 70.52 (n)
(Anolis carolinensis)
Reptilia RPUSD1 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rpusd1 33
  • 63.1 (n)
(Danio rerio)
Actinopterygii rpusd1 33 34
  • 65.39 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004401 33
  • 50.3 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUS6 34
  • 16 (a)
Species where no ortholog for RPUSD1 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)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RPUSD1 Gene

Gene Tree for RPUSD1 (if available)
Gene Tree for RPUSD1 (if available)

Paralogs for RPUSD1 Gene

No data available for Paralogs for RPUSD1 Gene

Variants for RPUSD1 Gene

Sequence variations from dbSNP and Humsavar for RPUSD1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs193920771 Uncertain significance 786,368(-) GACAC(A/G)CCAGC reference, missense, utr-variant-3-prime
rs1000261081 -- 789,879(+) ACACA(A/G/T)CCTCC intron-variant, upstream-variant-2KB
rs1001515157 -- 789,743(+) CACGG(G/T)GGGTG intron-variant, upstream-variant-2KB
rs1001808659 -- 785,547(+) AGCAG(A/C)CCATC utr-variant-3-prime
rs1002088427 -- 784,826(+) TGCTT(C/G)CTGTC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for RPUSD1 Gene

Variant ID Type Subtype PubMed ID
nsv952898 CNV deletion 24416366
nsv9321 CNV gain+loss 18304495
nsv817712 CNV loss 17921354
nsv571043 CNV loss 21841781
nsv571042 CNV loss 21841781
nsv571040 CNV loss 21841781
nsv526903 CNV loss 19592680
nsv517488 CNV loss 19592680
nsv471063 CNV loss 18288195
nsv457312 CNV loss 19166990
nsv1160326 CNV duplication 26073780
nsv1160325 CNV duplication 26073780
esv3637582 CNV gain 21293372
esv2422427 CNV duplication 17116639
dgv4828n54 CNV gain 21841781
dgv4827n54 CNV loss 21841781

Variation tolerance for RPUSD1 Gene

Residual Variation Intolerance Score: 43.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.86; 67.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPUSD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPUSD1 Gene

Disorders for RPUSD1 Gene

Relevant External Links for RPUSD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for RPUSD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RPUSD1 Gene

Publications for RPUSD1 Gene

  1. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels RJ … Higgs DR (Human molecular genetics 2001) 3 4 60
  2. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60
  3. N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P … Aldabe R (Proceedings of the National Academy of Sciences of the United States of America 2012) 4 60
  4. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J … Yang X (Molecular systems biology 2011) 3 60
  5. Transcriptome analysis of human gastric cancer. (PMID: 16341674) Oh JH … Kim NS (Mammalian genome : official journal of the International Mammalian Genome Society 2005) 3 60

Products for RPUSD1 Gene

Sources for RPUSD1 Gene

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