Human Gene RWDD3 (uc009wdu.3) Description and Page Index
  Description: Homo sapiens RWD domain containing 3 (RWDD3), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:95,699,711-95,712,781 Size: 13,071 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr1:95,699,787-95,712,426 Size: 12,640 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:95,699,711-95,712,781)mRNA (may differ from genome)Protein (267 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
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H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: RWDD3_HUMAN
DESCRIPTION: RecName: Full=RWD domain-containing protein 3; AltName: Full=RWD-containing sumoylation enhancer;
FUNCTION: Enhances the sumoylation of a number of proteins including HIF1A, PIAS and I-kappa-B, through direct interaction with UBC9. Has no effect on ubiquitination.
INTERACTION: P63165:SUMO1; NbExp=2; IntAct=EBI-1549885, EBI-80140; P63279:UBE2I; NbExp=5; IntAct=EBI-1549885, EBI-80168;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Colocalizes with UBC9/UBE2I in nuclear spots.
TISSUE SPECIFICITY: 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.
INDUCTION: By hypoxia.
DOMAIN: The RWD domain is required for the sumoylation enhancement activity (By similarity).
SIMILARITY: Contains 1 RWD domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RWDD3
CDC HuGE Published Literature: RWDD3
Positive Disease Associations: Blood Coagulation Factors , Blood Pressure , Body Mass Index , C-Reactive Protein , Eosinophils , Fibrinogen , Interleukin-6 , Neuroblastoma , Pain Measurement , Platelet Count , Resistin , Stroke
Related Studies:
  1. Blood Coagulation Factors
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
  2. Blood Pressure
    Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics. [PubMed 17903302]
    These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
  3. Body Mass Index
    , , . [PubMed 0]
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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.00 RPKM in Thyroid
Total median expression: 164.27 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.7076-0.457 Picture PostScript Text
3' UTR -69.10355-0.195 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006575 - RWD-domain
IPR016135 - UBQ-conjugating_enzyme/RWD

Pfam Domains:
PF05773 - RWD domain

SCOP Domains:
54495 - UBC-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2EBK
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y3V2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0032088 negative regulation of NF-kappaB transcription factor activity
GO:0033235 positive regulation of protein sumoylation
GO:1902073 positive regulation of hypoxia-inducible factor-1alpha signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC063464 - Homo sapiens cDNA clone IMAGE:5196802, **** WARNING: chimeric clone ****.
AK309126 - Homo sapiens cDNA, FLJ99167.
AK292699 - Homo sapiens cDNA FLJ77908 complete cds, highly similar to Homo sapiens RWD domain containing 3 (RWDD3), mRNA.
AK292665 - Homo sapiens cDNA FLJ75384 complete cds, highly similar to Homo sapiens RWD domain containing 3 (RWDD3), mRNA.
AK296476 - Homo sapiens cDNA FLJ51225 complete cds, highly similar to RWD domain-containing protein 3.
BC125142 - Homo sapiens RWD domain containing 3, mRNA (cDNA clone MGC:150370 IMAGE:40119943), complete cds.
AL050062 - Homo sapiens mRNA; cDNA DKFZp566K023 (from clone DKFZp566K023).
BC065813 - Homo sapiens RWD domain containing 3, mRNA (cDNA clone IMAGE:6503104), partial cds.
BC010936 - Homo sapiens RWD domain containing 3, mRNA (cDNA clone IMAGE:4281796).
BC016307 - Homo sapiens RWD domain containing 3, mRNA (cDNA clone IMAGE:4072447), with apparent retained intron.
AB528227 - Synthetic construct DNA, clone: pF1KE0409, Homo sapiens RWDD3 gene for RWD domain containing protein 3, without stop codon, in Flexi system.
AM392773 - Synthetic construct Homo sapiens clone IMAGE:100001718 for hypothetical protein (RWDD3 gene).
AM393257 - Synthetic construct Homo sapiens clone IMAGE:100001713 for hypothetical protein (RWDD3 gene).
KJ898576 - Synthetic construct Homo sapiens clone ccsbBroadEn_07970 RWDD3 gene, encodes complete protein.
CR533493 - Homo sapiens full open reading frame cDNA clone RZPDo834D1217D for gene RWDD3, RWD domain containing 3; complete cds, incl. stopcodon.
KJ906107 - Synthetic construct Homo sapiens clone ccsbBroadEn_15777 RWDD3 gene, encodes complete protein.
BX648581 - Homo sapiens mRNA; cDNA DKFZp686A23224 (from clone DKFZp686A23224).
BX537497 - Homo sapiens mRNA; cDNA DKFZp779M0963 (from clone DKFZp779M0963).
JD303954 - Sequence 284978 from Patent EP1572962.
JD412523 - Sequence 393547 from Patent EP1572962.
JD314631 - Sequence 295655 from Patent EP1572962.
JD184478 - Sequence 165502 from Patent EP1572962.
JD358246 - Sequence 339270 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NP44, A8K9F0, C9J9L7, C9JI45, NM_015485, NP_056300, Q08AJ7, Q6FID3, Q9BX35, Q9Y3V2, RSUME, RWDD3_HUMAN
UCSC ID: uc009wdu.3
RefSeq Accession: NM_015485
Protein: Q9Y3V2 (aka RWDD3_HUMAN or RWD3_HUMAN)
CCDS: CCDS41357.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015485.4
exon count: 4CDS single in 3' UTR: no RNA size: 1250
ORF size: 804CDS single in intron: no Alignment % ID: 99.92
txCdsPredict score: 1808.00frame shift in genome: no % Coverage: 98.80
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.