Aliases for RPUSD1 Gene

Aliases for RPUSD1 Gene

  • RNA Pseudouridine Synthase Domain Containing 1 2 3 5
  • Ribosomal Large Subunit Pseudouridine Synthase C-Like Protein 3 4
  • RNA Pseudouridylate Synthase Domain-Containing Protein 1 3 4
  • RNA Pseudouridylate Synthase Domain Containing 1 2 3
  • C16orf40 3 4
  • RLUCL 3 4
  • 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
  • GC16M000999
  • GC16M001017
  • GC16M000841
  • GC16M000866
  • GC16M000871
  • GC16M000904
  • GC16M000921
  • GC16M000940
  • GC16M000961
  • GC16M000983

Summaries for RPUSD1 Gene

GeneCards Summary for RPUSD1 Gene

RPUSD1 (RNA Pseudouridine Synthase Domain Containing 1) is a Protein Coding gene. Diseases associated with RPUSD1 include Basal Cell Nevus Syndrome. Gene Ontology (GO) annotations related to this gene include RNA binding and pseudouridine synthase activity. An important paralog of this gene is RPUSD4.

Additional gene information for RPUSD1 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 RPUSD1 Gene

Genomics for RPUSD1 Gene

GeneHancer (GH) Regulatory Elements for RPUSD1 Gene

Promoters and enhancers for RPUSD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPUSD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPUSD1 gene promoter:
  • CBF(2)
  • Elk-1
  • LCR-F1
  • LUN-1
  • MyoD
  • NF-Y
  • Nkx2-5
  • POU2F1
  • POU2F1a

Genomic Locations for RPUSD1 Gene

Genomic Locations for RPUSD1 Gene
chr16:784,974-788,397
(GRCh38/hg38)
Size:
3,424 bases
Orientation:
Minus strand
chr16:834,974-838,397
(GRCh37/hg19)
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

    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

GenScript: Design optimal peptide antigens:
  • RPUSD1 protein (Q96E34_HUMAN)
  • Ribosomal large subunit pseudouridine synthase C-like protein (RUSD1_HUMAN)

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

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

Animal Model Products

CRISPR 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

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 RPUSD1 gene
Compartment Confidence
extracellular 2
nucleus 2
cytosol 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

PathCards logo

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:0001522 pseudouridine synthesis IEA --
GO:0008150 biological_process ND --
GO:0009451 RNA modification IEA --
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
  • (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 RPUSD1: view

Transcripts for RPUSD1 Gene

CRISPR Products

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: - -
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 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, 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

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
chimpanzee
(Pan troglodytes)
Mammalia RPUSD1 33 32
  • 98.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RPUSD1 33 32
  • 85.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RPUSD1 33 32
  • 82.39 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rpusd1 32
  • 80.39 (n)
mouse
(Mus musculus)
Mammalia Rpusd1 17 33 32
  • 79.96 (n)
oppossum
(Monodelphis domestica)
Mammalia RPUSD1 33
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPUSD1 33
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPUSD1 33 32
  • 70.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RPUSD1 33
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpusd1 32
  • 63.1 (n)
zebrafish
(Danio rerio)
Actinopterygii rpusd1 33 32
  • 65.39 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004401 32
  • 50.3 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUS6 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RPUSD1: view image

Paralogs for RPUSD1 Gene

Paralogs for RPUSD1 Gene

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

Variants for RPUSD1 Gene

Sequence variations from dbSNP and Humsavar for RPUSD1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs193920771 uncertain-significance, Malignant tumor of prostate 786,368(-) T/C/G 3_prime_UTR_variant, coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs1000261081 -- 789,879(-) G/A/T upstream_transcript_variant
rs1001515157 -- 789,743(-) T/G upstream_transcript_variant
rs1001808659 -- 785,547(-) C/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1002088427 -- 784,826(-) G/C downstream_transcript_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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for RPUSD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
basal cell nevus syndrome
  • bcns
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RPUSD1

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

No data available for 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 56
  2. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 56
  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 56
  4. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J … Yang X (Molecular systems biology 2011) 3 56
  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 56

Products for RPUSD1 Gene

Sources for RPUSD1 Gene