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Aliases for RPUSD4 Gene

Aliases for RPUSD4 Gene

  • RNA Pseudouridylate Synthase Domain Containing 4 2 3 5

External Ids for RPUSD4 Gene

Previous GeneCards Identifiers for RPUSD4 Gene

  • GC11M125578
  • GC11M126071
  • GC11M122013

Summaries for RPUSD4 Gene

GeneCards Summary for RPUSD4 Gene

RPUSD4 (RNA Pseudouridylate Synthase Domain Containing 4) is a Protein Coding gene. GO annotations related to this gene include poly(A) RNA binding and pseudouridine synthase activity. An important paralog of this gene is RPUSD3.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPUSD4 Gene

Genomics for RPUSD4 Gene

Regulatory Elements for RPUSD4 Gene

Enhancers for RPUSD4 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
GH11F126188 1 ENCODE 16 +22.5 22470 2.1 PKNOX1 MLX ARID4B ZNF48 SP5 NFYC JUNB TBX21 PPARG KAT8 FAM118B FOXRED1 RPUSD4 ENSG00000254833 ENSG00000254790 RNU4-86P DCPS ENSG00000254771 ENSG00000254694
GH11F126418 1.6 FANTOM5 Ensembl ENCODE 9.6 -211.4 -211419 10.1 ATF1 ARNT YY1 ELK1 GATA2 ZNF263 NCOA1 TBX21 CREB3 MBD2 ST3GAL4 DCPS HP11014 ENSG00000254694 FAM118B RPUSD4 LOC105369558 FEZ1 ENSG00000278215 KIRREL3-AS1
GH11F126280 1.1 ENCODE 10.7 -70.8 -70755 4.2 ATF1 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF48 YY1 FOXRED1 FAM118B DCPS HP11014 RPUSD4 ENSG00000254694 RNU4-86P TIRAP ENSG00000254905
GH11F126190 0.7 ENCODE 16.2 +20.7 20709 1.2 GATAD2A PKNOX1 SAP130 GFI1B HLF ZEB2 RAD21 NFIL3 CTBP1 CEBPA FAM118B RPUSD4 RNU4-86P ENSG00000254790 DCPS ENSG00000254771 ENSG00000254694
GH11F125901 1 ENCODE 10 +308.7 308700 2.0 ATF1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ETS1 ELK1 ZNF143 SP3 DDX25 ENSG00000254694 STT3A ACRV1 LOC105369553 ENSG00000254790 TMEM218 RPUSD4 FAM118B PUS3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RPUSD4 on UCSC Golden Path with GeneCards custom track

Genomic Location for RPUSD4 Gene

126,202,094 bp from pter
126,211,692 bp from pter
9,599 bases
Minus strand

Genomic View for RPUSD4 Gene

Genes around RPUSD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPUSD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPUSD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPUSD4 Gene

Proteins for RPUSD4 Gene

  • Protein details for RPUSD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    RNA pseudouridylate synthase domain-containing protein 4
    Protein Accession:
    Secondary Accessions:
    • E9PML2
    • Q96K56

    Protein attributes for RPUSD4 Gene

    377 amino acids
    Molecular mass:
    42205 Da
    Quaternary structure:
    No Data Available
    • Sequence=AK308059; Type=Frameshift; Positions=101; Evidence={ECO:0000305};

    Alternative splice isoforms for RPUSD4 Gene


neXtProt entry for RPUSD4 Gene

Post-translational modifications for RPUSD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RPUSD4 Gene

No data available for DME Specific Peptides for RPUSD4 Gene

Domains & Families for RPUSD4 Gene

Gene Families for RPUSD4 Gene

Suggested Antigen Peptide Sequences for RPUSD4 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 RPUSD4: view

Function for RPUSD4 Gene

Gene Ontology (GO) - Molecular Function for RPUSD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 17577209
GO:0009982 pseudouridine synthase activity IEA,IBA --
GO:0019239 contributes_to deaminase activity IBA --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with RPUSD4: view

Phenotypes for RPUSD4 Gene

GenomeRNAi human phenotypes for RPUSD4:
genes like me logo Genes that share phenotypes with RPUSD4: view

Animal Model Products

miRNA for RPUSD4 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RPUSD4 Gene

Localization for RPUSD4 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 RPUSD4 gene
Compartment Confidence
mitochondrion 4

Gene Ontology (GO) - Cellular Components for RPUSD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
genes like me logo Genes that share ontologies with RPUSD4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RPUSD4 Gene

Pathways & Interactions for RPUSD4 Gene

SuperPathways for RPUSD4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RPUSD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009451 RNA modification IEA --
GO:0031119 tRNA pseudouridine synthesis IBA --
genes like me logo Genes that share ontologies with RPUSD4: view

No data available for Pathways by source and SIGNOR curated interactions for RPUSD4 Gene

Drugs & Compounds for RPUSD4 Gene

(1) Additional Compounds for RPUSD4 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 RPUSD4: view

Transcripts for RPUSD4 Gene

Unigene Clusters for RPUSD4 Gene

RNA pseudouridylate synthase domain containing 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPUSD4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b
SP1: - - -
SP2: - - - - -
SP3: - - - - - - - - -
SP4: -
SP6: - - - - - -
SP8: - - - - - - - - - -

Relevant External Links for RPUSD4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RPUSD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RPUSD4 Gene

mRNA differential expression in normal tissues according to GTEx for RPUSD4 Gene

This gene is overexpressed in Muscle - Skeletal (x7.2).

Protein differential expression in normal tissues from HIPED for RPUSD4 Gene

This gene is overexpressed in Pancreas (34.8), Lung (24.6), and Adrenal (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPUSD4 Gene

Protein tissue co-expression partners for RPUSD4 Gene

NURSA nuclear receptor signaling pathways regulating expression of RPUSD4 Gene:


SOURCE GeneReport for Unigene cluster for RPUSD4 Gene:

genes like me logo Genes that share expression patterns with RPUSD4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for RPUSD4 Gene

Orthologs for RPUSD4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RPUSD4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RPUSD4 34 35
  • 99.47 (n)
(Canis familiaris)
Mammalia RPUSD4 34 35
  • 85.23 (n)
(Bos Taurus)
Mammalia RPUSD4 34 35
  • 84.75 (n)
(Mus musculus)
Mammalia Rpusd4 34 16 35
  • 82.32 (n)
(Rattus norvegicus)
Mammalia Rpusd4 34
  • 81.87 (n)
(Ornithorhynchus anatinus)
Mammalia RPUSD4 35
  • 66 (a)
(Monodelphis domestica)
Mammalia RPUSD4 35
  • 62 (a)
(Gallus gallus)
Aves RPUSD4 34 35
  • 64.24 (n)
(Anolis carolinensis)
Reptilia RPUSD4 35
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC734064 34
  • 56 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10103 34
(Danio rerio)
Actinopterygii rpusd4 34 35
  • 57.02 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3295 35
  • 25 (a)
Species where no ortholog for RPUSD4 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)
  • 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)
  • 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 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 RPUSD4 Gene

Gene Tree for RPUSD4 (if available)
Gene Tree for RPUSD4 (if available)

Paralogs for RPUSD4 Gene

Paralogs for RPUSD4 Gene

genes like me logo Genes that share paralogs with RPUSD4: view

Variants for RPUSD4 Gene

Sequence variations from dbSNP and Humsavar for RPUSD4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1062002 -- 126,202,797(-) GCggg(C/G)agcag utr-variant-3-prime
rs10790793 -- 126,212,318(+) TTGGG(A/G)GTCTC intron-variant, upstream-variant-2KB
rs10909380 -- 126,210,520(+) ATACA(C/T)ACACA intron-variant, upstream-variant-2KB
rs111250104 -- 126,202,957(+) CTATA(G/T)CTGGG utr-variant-3-prime
rs111253708 -- 126,205,891(+) ATTTC(C/T)TATGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RPUSD4 Gene

Variant ID Type Subtype PubMed ID
nsv536 CNV deletion 18451855
nsv556529 CNV loss 21841781
nsv556528 CNV loss 21841781
nsv556527 CNV loss 21841781

Variation tolerance for RPUSD4 Gene

Residual Variation Intolerance Score: 58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.11; 90.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPUSD4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPUSD4 Gene

Disorders for RPUSD4 Gene

Relevant External Links for RPUSD4

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

No disorders were found for RPUSD4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RPUSD4 Gene

Publications for RPUSD4 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64

Products for RPUSD4 Gene

Sources for RPUSD4 Gene

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