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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

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.

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 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
GH16F000709 0.8 Ensembl ENCODE 12.5 +77.8 77791 3.2 ZFP64 SIN3A ARID4B ZNF2 GLIS2 ZNF143 FOS ZNF263 MIER2 REST JMJD8 FBXL16 TMEM204 CHTF18 RPUSD1 MPG WFIKKN1 TPSG1 ENSG00000260954 ENSG00000262528
GH16F000386 0.5 Ensembl ENCODE 6.8 +400.4 400434 3.6 HDAC1 ATF1 ZBTB40 RAD21 ZNF362 REST SMARCA4 IKZF1 NBN ZBTB33 NHLRC4 PIGQ PRR35 NME4 TMEM8A LOC100134368 RPUSD1 GC16P000388
GH16F000785 0.2 ENCODE 5.5 +2.7 2662 0.2 CTCF ESRRA ARID4B SIN3A ZNF48 BCL11B ZNF2 RAD21 HIC1 ZNF121 RPUSD1 GC16M000889 MSLNL
GH16F000794 1.1 Ensembl ENCODE 5.3 -10.9 -10868 9.5 ZFP64 ZNF76 GLIS2 SCRT2 RCOR1 EGR2 USF2 REST RAD51 MTA1 MSLN CHTF18 RPUSD1 MSLNL NARFL GNG13
GH16F000635 0.6 ENCODE 5.1 +151.3 151325 4.1 PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 JMJD8 METTL26 WFIKKN1 ENSG00000260954 ENSG00000261505 ENSG00000226890 ENSG00000260051 HBZP1 PRSS29P IFT140
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000502097 -3 2001 PKNOX1 CREB3L1 ARID4B SIN3A GLI4 ZNF2 GLIS2 ELK1 ZNF207 FOS

Genomic Location for RPUSD1 Gene

Chromosome:
16
Start:
784,974 bp from pter
End:
788,397 bp from pter
Size:
3,424 bases
Orientation:
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:
    Q9UJJ7-RUSD1_HUMAN
    Recommended name:
    RNA pseudouridylate synthase domain-containing protein 1
    Protein Accession:
    Q9UJJ7
    Secondary Accessions:
    • D3DU66

    Protein attributes for RPUSD1 Gene

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

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

Q9UJJ7

UniProtKB/Swiss-Prot:

RUSD1_HUMAN :
  • Belongs to the pseudouridine synthase RluA family.
Family:
  • Belongs to the pseudouridine synthase RluA family.
genes like me logo Genes that share domains with RPUSD1: view

Function 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 IEA,IBA --
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

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 RPUSD1 Gene

Localization for RPUSD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RPUSD1 Gene COMPARTMENTS Subcellular localization image for RPUSD1 gene
Compartment Confidence
cytosol 3
mitochondrion 3
extracellular 2
golgi apparatus 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RPUSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IBA --
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: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
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 RPUSD1: view

Transcripts for RPUSD1 Gene

Unigene Clusters for RPUSD1 Gene

RNA pseudouridylate synthase domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: - -
SP5:

Relevant External Links for RPUSD1 Gene

GeneLoc Exon Structure for
RPUSD1
ECgene alternative splicing isoforms for
RPUSD1

Expression for RPUSD1 Gene

mRNA expression in normal human tissues 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:

RPUSD1

SOURCE GeneReport for Unigene cluster for RPUSD1 Gene:

Hs.101742
genes like me logo Genes that share expression patterns with RPUSD1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia RPUSD1 34 35
  • 98.82 (n)
cow
(Bos Taurus)
Mammalia RPUSD1 34 35
  • 85.5 (n)
dog
(Canis familiaris)
Mammalia RPUSD1 34 35
  • 82.39 (n)
rat
(Rattus norvegicus)
Mammalia Rpusd1 34
  • 80.39 (n)
mouse
(Mus musculus)
Mammalia Rpusd1 34 16 35
  • 79.96 (n)
oppossum
(Monodelphis domestica)
Mammalia RPUSD1 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPUSD1 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPUSD1 34 35
  • 70.52 (n)
lizard
(Anolis carolinensis)
Reptilia RPUSD1 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpusd1 34
  • 63.1 (n)
zebrafish
(Danio rerio)
Actinopterygii rpusd1 34 35
  • 65.39 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004401 34
  • 50.3 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUS6 35
  • 16 (a)
OneToOne
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

ENSEMBL:
Gene Tree for RPUSD1 (if available)
TreeFam:
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
rs1052629 -- 785,298(-) TGCCC(A/G)GATTC utr-variant-3-prime
rs10600947 -- 786,508(+) TCTCC(-/CT)GTCCC intron-variant
rs111345102 -- 787,411(+) CTGCC(A/G)GCGGC upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime
rs111537992 -- 786,594(+) GGTGG(C/T)GCTCG intron-variant

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

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

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
RPUSD1

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:
RPUSD1

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 R.J. … Higgs D.R. (Hum. Mol. Genet. 2001) 3 4 64
  2. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  3. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P. … Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012) 4 64
  4. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3 64
  5. Transcriptome analysis of human gastric cancer. (PMID: 16341674) Oh J.H. … Kim N.S. (Mamm. Genome 2005) 3 64

Products for RPUSD1 Gene

Sources for RPUSD1 Gene

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