Aliases for RWDD3 Gene

Aliases for RWDD3 Gene

  • RWD Domain Containing 3 2 3 5
  • RWD Domain-Containing Sumoylation Enhancer 3 4
  • RWD-Containing Sumoylation Enhancer 2 3
  • RWD Domain-Containing Protein 3 3 4
  • RSUME 3 4

External Ids for RWDD3 Gene

Previous GeneCards Identifiers for RWDD3 Gene

  • GC01P095090
  • GC01P095411
  • GC01P095699
  • GC01P093821

Summaries for RWDD3 Gene

GeneCards Summary for RWDD3 Gene

RWDD3 (RWD Domain Containing 3) is a Protein Coding gene. Among its related pathways are SUMOylation and Metabolism of proteins.

UniProtKB/Swiss-Prot Summary for RWDD3 Gene

  • Enhancer of SUMO conjugation. Via its interaction with UBE2I/UBC9, increases SUMO conjugation to proteins by promoting the binding of E1 and E2 enzymes, thioester linkage between SUMO and UBE2I/UBC9 and transfer of SUMO to specific target proteins which include HIF1A, PIAS, NFKBIA, NR3C1 and TOP1. Isoform 1 and isoform 2 positively regulate the NF-kappa-B signaling pathway by enhancing the sumoylation of NF-kappa-B inhibitor alpha (NFKBIA), promoting its stabilization which consequently leads to an increased inhibition of NF-kappa-B transcriptional activity. Isoform 1 and isoform 2 negatively regulate the hypoxia-inducible factor-1 alpha (HIF1A) signaling pathway by increasing the sumoylation of HIF1A, promoting its stabilization, transcriptional activity and the expression of its target gene VEGFA during hypoxia. Isoform 2 promotes the sumoylation and transcriptional activity of the glucocorticoid receptor NR3C1 and enhances the interaction of SUMO1 and NR3C1 with UBE2I/UBC9. Has no effect on ubiquitination.

Gene Wiki entry for RWDD3 Gene

Additional gene information for RWDD3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RWDD3 Gene

Genomics for RWDD3 Gene

GeneHancer (GH) Regulatory Elements for RWDD3 Gene

Promoters and enhancers for RWDD3 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
GH01J095232 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 -0.3 -254 2.6 ZNF785 ZNF24 CTCF RBPJ POLR2A MIXL1 ELF1 HLF L3MBTL2 MAX ENSG00000226026 LOC101928118 NONHSAG002143.2 RWDD3 TLCD4 ENSG00000228852 piR-55809-001 TLCD4-RWDD3
GH01J094921 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 18.6 -308.3 -308314 8.3 CTCF ZBTB6 LCORL NR2F6 ZNF362 NFYC HLF RAD21 ZNF121 POLR2A ENSG00000235501 CNN3 LOC105378862 lnc-ALG14-8 RWDD3 LINC01760 LINC01650 LINC01761 ENSG00000233482 GAPDHP29
GH01J094862 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 25.9 -369.2 -369187 5.8 PRDM1 HNF1A ZNF384 POLR2A SMARCC1 GATAD2A SP1 CEBPB CHD2 JUN RWDD3 ENSG00000228852 CNN3 ENSG00000235501 ALG14-AS1 SLC44A3 ENSG00000226026 SLC44A3-AS1 RF00017-278 lnc-ALG14-8
GH01J095071 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 19.7 -161.5 -161482 2.3 ZNF24 ZBTB40 SIX5 ZBTB6 FOXA1 SMARCE1 POLR2A ATF1 CREB1 HCFC1 ALG14 lnc-CNN3-2 lnc-TMEM56-3 RWDD3 ENSG00000223675 ENSG00000231992 ENSG00000226026 ENSG00000235501 LINC02790 ALG14-AS1
GH01J094232 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.5 -997.5 -997492 7.4 POLR2A ZNF362 RAD21 MNT BCL6B SP1 ZNF384 MAFK SP7 ZSCAN21 ARHGAP29 ARHGAP29-AS1 RWDD3 DNTTIP2 DR1 ABCA4 CCDC18-AS1 ABCD3 lnc-ABCA4-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RWDD3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RWDD3 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • FOXO4
  • NF-Y
  • NF-YA
  • NF-YB

Genomic Locations for RWDD3 Gene

Genomic Locations for RWDD3 Gene
chr1:95,234,155-95,247,225
(GRCh38/hg38)
Size:
13,071 bases
Orientation:
Plus strand
chr1:95,699,711-95,712,781
(GRCh37/hg19)
Size:
13,071 bases
Orientation:
Plus strand

Genomic View for RWDD3 Gene

Genes around RWDD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RWDD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RWDD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RWDD3 Gene

Proteins for RWDD3 Gene

  • Protein details for RWDD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3V2-RWDD3_HUMAN
    Recommended name:
    RWD domain-containing protein 3
    Protein Accession:
    Q9Y3V2
    Secondary Accessions:
    • A6NP44
    • A8K9F0
    • C9J9L7
    • C9JI45
    • Q08AJ7
    • Q6FID3
    • Q9BX35

    Protein attributes for RWDD3 Gene

    Size:
    267 amino acids
    Molecular mass:
    30543 Da
    Quaternary structure:
    • Isoform 1 and isoform 2 interact with UBE2I/UBC9 (PubMed:17956732, PubMed:23469069, PubMed:25918163). Isoform 1 shows a greater interaction with NFKBIA and HIF1A as compared to isoform 2 (PubMed:17956732, PubMed:23469069). Isoform 2 interacts with NCOA2 and NR3C1 (PubMed:23508108).

    Three dimensional structures from OCA and Proteopedia for RWDD3 Gene

    Alternative splice isoforms for RWDD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RWDD3 Gene

Post-translational modifications for RWDD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RWDD3 Gene

No data available for DME Specific Peptides for RWDD3 Gene

Domains & Families for RWDD3 Gene

Gene Families for RWDD3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RWDD3 Gene

Suggested Antigen Peptide Sequences for RWDD3 Gene

GenScript: Design optimal peptide antigens:
  • RWD domain containing 3, isoform CRA_a (D3DT49_HUMAN)
  • RWD-containing sumoylation enhancer (RWDD3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y3V2

UniProtKB/Swiss-Prot:

RWDD3_HUMAN :
  • The RWD domain is required for the sumoylation enhancement activity.
Domain:
  • The RWD domain is required for the sumoylation enhancement activity.
genes like me logo Genes that share domains with RWDD3: view

Function for RWDD3 Gene

Molecular function for RWDD3 Gene

UniProtKB/Swiss-Prot Function:
Enhancer of SUMO conjugation. Via its interaction with UBE2I/UBC9, increases SUMO conjugation to proteins by promoting the binding of E1 and E2 enzymes, thioester linkage between SUMO and UBE2I/UBC9 and transfer of SUMO to specific target proteins which include HIF1A, PIAS, NFKBIA, NR3C1 and TOP1. Isoform 1 and isoform 2 positively regulate the NF-kappa-B signaling pathway by enhancing the sumoylation of NF-kappa-B inhibitor alpha (NFKBIA), promoting its stabilization which consequently leads to an increased inhibition of NF-kappa-B transcriptional activity. Isoform 1 and isoform 2 negatively regulate the hypoxia-inducible factor-1 alpha (HIF1A) signaling pathway by increasing the sumoylation of HIF1A, promoting its stabilization, transcriptional activity and the expression of its target gene VEGFA during hypoxia. Isoform 2 promotes the sumoylation and transcriptional activity of the glucocorticoid receptor NR3C1 and enhances the interaction of SUMO1 and NR3C1 with UBE2I/UBC9. Has no effect on ubiquitination.
UniProtKB/Swiss-Prot Induction:
Induced by hypoxia and heat shock.

Phenotypes From GWAS Catalog for RWDD3 Gene

Gene Ontology (GO) - Molecular Function for RWDD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17956732
genes like me logo Genes that share ontologies with RWDD3: view
genes like me logo Genes that share phenotypes with RWDD3: view

Animal Models for RWDD3 Gene

MGI Knock Outs for RWDD3:
  • Rwdd3 Rwdd3<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RWDD3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for RWDD3 Gene

Localization for RWDD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RWDD3 Gene

Nucleus. Cytoplasm. Note=Colocalizes with UBC9/UBE2I in nuclear spots. {ECO:0000269 PubMed:17956732}.

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 RWDD3 gene
Compartment Confidence
nucleus 3
cytoskeleton 1
mitochondrion 1
cytosol 1
extracellular 0
peroxisome 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for RWDD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with RWDD3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RWDD3 Gene

Pathways & Interactions for RWDD3 Gene

genes like me logo Genes that share pathways with RWDD3: view

SIGNOR curated interactions for RWDD3 Gene

Activates:

Gene Ontology (GO) - Biological Process for RWDD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032088 negative regulation of NF-kappaB transcription factor activity IDA 23469069
GO:0033235 positive regulation of protein sumoylation IDA,IBA 23469069
GO:1902073 positive regulation of hypoxia-inducible factor-1alpha signaling pathway IDA 23469069
genes like me logo Genes that share ontologies with RWDD3: view

Drugs & Compounds for RWDD3 Gene

No Compound Related Data Available

Transcripts for RWDD3 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RWDD3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RWDD3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7a · 7b · 7c
SP1:
SP2: - - - - - - -
SP3: - - - -
SP4: - - - -
SP5: - - -
SP6: - - - - - -
SP7: - - - - -
SP8:
SP9: - -
SP10: - -

Relevant External Links for RWDD3 Gene

GeneLoc Exon Structure for
RWDD3
ECgene alternative splicing isoforms for
RWDD3

Expression for RWDD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RWDD3 Gene

Protein differential expression in normal tissues from HIPED for RWDD3 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RWDD3 Gene



Protein tissue co-expression partners for RWDD3 Gene

NURSA nuclear receptor signaling pathways regulating expression of RWDD3 Gene:

RWDD3

SOURCE GeneReport for Unigene cluster for RWDD3 Gene:

Hs.709591

mRNA Expression by UniProt/SwissProt for RWDD3 Gene:

Q9Y3V2-RWDD3_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are expressed in glioma tumors (at protein level). Expressed in a wide number of tissues with highest expression in cerebellum, pituitary, heart, kidney, liver, stomach, pancreas, prostate and spleen. Low levels in thalamus, spinal cord, esophagus, thymus, lung and peripheral blood leukocytes. A higher level expression seen in pituitary tumors as compared to the pituitary gland.

Evidence on tissue expression from TISSUES for RWDD3 Gene

  • Nervous system(4.4)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with RWDD3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RWDD3 Gene

Orthologs for RWDD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RWDD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RWDD3 33 32
  • 99.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RWDD3 33 32
  • 91.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RWDD3 33 32
  • 88.14 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rwdd3 32
  • 84.39 (n)
mouse
(Mus musculus)
Mammalia Rwdd3 17 33 32
  • 84.14 (n)
oppossum
(Monodelphis domestica)
Mammalia RWDD3 33
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RWDD3 33
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves RWDD3 33 32
  • 76.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RWDD3 33
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rwdd3 32
  • 65.53 (n)
Str.17439 32
zebrafish
(Danio rerio)
Actinopterygii rwdd3 32
  • 54.69 (n)
-- 32
Species where no ortholog for RWDD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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 RWDD3 Gene

ENSEMBL:
Gene Tree for RWDD3 (if available)
TreeFam:
Gene Tree for RWDD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RWDD3: view image

Paralogs for RWDD3 Gene

No data available for Paralogs for RWDD3 Gene

Variants for RWDD3 Gene

Sequence variations from dbSNP and Humsavar for RWDD3 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000049754 -- 95,240,946(+) G/A intron_variant
rs1000081823 -- 95,241,278(+) G/A intron_variant
rs1000149480 -- 95,234,568(+) C/T intron_variant
rs1000287364 -- 95,240,565(+) C/T intron_variant
rs1000452458 -- 95,246,440(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RWDD3 Gene

Variant ID Type Subtype PubMed ID
nsv823620 CNV gain 20364138
nsv830636 CNV loss 17160897

Variation tolerance for RWDD3 Gene

Residual Variation Intolerance Score: 41.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.90; 35.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RWDD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RWDD3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RWDD3 Gene

Disorders for RWDD3 Gene

Additional Disease Information for RWDD3

No disorders were found for RWDD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RWDD3 Gene

Publications for RWDD3 Gene

  1. RSUME, a small RWD-containing protein, enhances SUMO conjugation and stabilizes HIF-1alpha during hypoxia. (PMID: 17956732) Carbia-Nagashima A … Arzt E (Cell 2007) 2 3 4 56
  2. Protein stabilization by RSUME accounts for PTTG pituitary tumor abundance and oncogenicity. (PMID: 29622689) Fuertes M … Arzt E (Endocrine-related cancer 2018) 2 3 56
  3. Knockdown of RWD domain containing 3 inhibits the malignant phenotypes of glioblastoma cells via inhibition of phosphoinositide 3-kinase/protein kinase B signaling. (PMID: 29977365) Chen X … Yan L (Experimental and therapeutic medicine 2018) 2 3 56
  4. In silico structural and functional characterization of the RSUME splice variants. (PMID: 23469069) Gerez J … Arzt E (PloS one 2013) 3 4 56
  5. RSUME enhances glucocorticoid receptor SUMOylation and transcriptional activity. (PMID: 23508108) Druker J … Arzt E (Molecular and cellular biology 2013) 3 4 56

Products for RWDD3 Gene

Sources for RWDD3 Gene