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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RWDD1 Gene

protein-coding   GIFtS: 46
GCID: GC06P116938

RWD domain containing 1

 Explore 3 diseases affiliated with
RWDD1 via our new
 Human Malady Compendium 
Biological research products
for RWDD1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RWD Domain Containing 11 2
PTD0131 2
DRG Family-Regulatory Protein 22 3
RWD Domain-Containing Protein 12
DFRP23

External Ids:    HGNC: 209931   Entrez Gene: 513892   Ensembl: ENSG000001118327   UniProtKB: Q9H4463   

Export aliases for RWDD1 gene to outside databases

Previous GC identifers: GC06P116892 GC06P116999 GC06P114472


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RWDD1_HUMAN, Q9H446
Function: Protects DRG2 from proteolytic degradation (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RWDD1 gene promoter:
         Nkx3-1   Brachyury   FOXD1   Nkx3-1 v1   Nkx2-5   C/EBPalpha   Nkx3-1 v2   AREB6   MZF-1   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRWDD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RWDD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RWDD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q13-q22.33   Ensembl cytogenetic band:  6q22.1   HGNC cytogenetic band: 6q13-q22.33

RWDD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RWDD1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P116938:  view genomic region     (about GC identifiers)

Start:
116,892,530 bp from pter      End:
116,918,838 bp from pter
Size:
26,309 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RWDD1_HUMAN, Q9H446 (See protein sequence)
Recommended Name: RWD domain-containing protein 1  
Size: 243 amino acids; 27940 Da
Subunit: Interacts with DRG2. Interacts with androgen receptor (By similarity)
1 PDB 3D structure from and Proteopedia for RWDD1:
2EBM (3D)    
Secondary accessions: A8K3W2 A8MT24 Q9Y313 Q9Y6B3
Alternative splicing: 2 isoforms:  Q9H446-1   Q9H446-2   

Explore the universe of human proteins at neXtProt for RWDD1: NX_Q9H446

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H446

  • RWDD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001007465.1  NP_057036.2  NP_057188.2  

    ENSEMBL proteins: 
     ENSP00000420357   ENSP00000429070   ENSP00000428778   ENSP00000429942   ENSP00000428704  
     ENSP00000376311  

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    Uscn Proteins for RWDD1


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    Uscn ELISAs and CLIAs for RWDD1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RWDD1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR016135 UBQ-conjugating_enzyme/RWD
     IPR006575 RWD-domain

    Graphical View of Domain Structure for InterPro Entry Q9H446

    ProtoNet protein and cluster: Q9H446

    2 Blocks protein families:
    IPB000608 Ubiquitin-conjugating enzymes
    IPB006575 RWD


    UniProtKB/Swiss-Prot: RWDD1_HUMAN, Q9H446
    Similarity: Belongs to the RWDD1/GIR2 family
    Similarity: Contains 1 RWD domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: RWDD1_HUMAN, Q9H446
    Function: Protects DRG2 from proteolytic degradation (By similarity)

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16189514


    RWDD1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for RWDD1:
     Increased S DNA content 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RWDD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/10 Interacting proteins for RWDD1 (Q9H4461, 2, 3 ENSP000004203574) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DRG1Q9Y2951, 2, 3, ENSP000003297154EBI-748952,EBI-719554 MINT-67401 I2D: score=6 STRING: ENSP00000329715
    DRG2P550392, 3, ENSP000002257294MINT-67842 I2D: score=5 STRING: ENSP00000225729
    NUDT18Q6ZVK82, 3, ENSP000003078524MINT-67544 I2D: score=5 STRING: ENSP00000307852
    RAC3P607633I2D: score=1 
    HDAC6ENSP000003340614STRING: ENSP00000334061
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RWDD1
    Search CenterWatch for drugs/clinical trials and news about RWDD1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RWDD1 gene (3 alternative transcripts): 
    NM_001007464.1  NM_015952.2  NM_016104.2  

    Unigene Cluster for RWDD1:

    RWD domain containing 1
    Hs.532164  [show with all ESTs]
    Unigene Representative Sequence: AK301089
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000466444(uc003pxd.3) ENST00000368590 ENST00000487832 ENST00000517800
    ENST00000518117 ENST00000468204 ENST00000392526(uc003pxb.3 uc003pxc.3)


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    Inhib. RNA
    Products:
         
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    Clone
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    Additional cDNA sequence: 

    AF092134.1 AF132958.1 AK290727.1 AK301089.1 AY927558.1 BC008693.1 BC012534.1 BC015802.1 

    9 DOTS entries:

    DT.86854671  DT.215262  DT.101983054  DT.95358329  DT.215260  DT.91776425  DT.95082296  DT.95191775 
    DT.75156789 

    24/141 AceView cDNA sequences (see all 141):

    CK299234 AI963143 BM761228 BM905886 AI090297 AI990780 AW134621 AA829929 
    AI589074 AL043237 BQ019003 BM714565 AI696402 AA687141 AI080045 AI417770 
    AA429976 AA487499 BF445815 BC008693 CF128570 BP341655 AI129713 W70016 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for RWDD1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9
    SP1:                                                                        
    SP2:                                                                        
    SP3:              -     -                                                   


    ECgene alternative splicing isoforms for RWDD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RWDD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTACTCCAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RWDD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RWDD1

    SOURCE GeneReport for Unigene cluster: Hs.532164
        SABiosciences Custom PCR Arrays for RWDD1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RWDD1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RWDD1 gene from 10/33 species (see all 33)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rwdd11 , 5 RWD domain containing 11, 5 89.03(n)1
    96.3(a)1
      10 (18.85 cM)5
    665211  NM_025614.31  NP_079890.11 
     339965555 
    chicken
    (Gallus gallus)
    Aves RWDD11 RWD domain containing 1 83.33(n)
    88.33(a)
      421741  NM_001031075.2  NP_001026246.2 
    lizard
    (Anolis carolinensis)
    Reptilia RWDD16
    --
    88(a)
    1 ↔ 1
    1(186181873-186193133)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.81412 Xenopus laevis transcribed sequence with moderate similarity more 80.19(n)    CD302941.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CK360785.12   -- 76.16(n)    CK360785.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG55151 CG5515 49.15(n)
    44.02(a)
      42875  NM_142970.2  NP_651227.2 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_T26E3.41 Protein T26E3.4 48.07(n)
    37.5(a)
      173136  NM_060806.7  NP_493207.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GIR21 Gir2p 48.65(n)
    37.84(a)
      851730   NP_010436.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G517301 ubiquitin-conjugating enzyme-like protein 47.64(n)
    37.77(a)
      841598  NM_104051.4  NP_175584.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g05583001 hypothetical protein 53.06(n)
    39.45(a)
      4324673  NM_001049869.1  NP_001043334.1 


    ENSEMBL Gene Tree for RWDD1 (if available)
    TreeFam Gene Tree for RWDD1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RWDD1 gene

    RWDD1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for RWDD1
    PGOHUM00000239868 PGOHUM00000246859 PGOHUM00000247192


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/372 NCBI SNPs in RWDD1 are shown (see all 372    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1494724441,2
    --116890641(+) TATGGC/TCAAAA 3 -- us2k10--------
    rs1459696151,2
    --116890748(+) GTATCA/GAAGTA 3 -- us2k10--------
    rs1148992641,2
    F,--116890836(+) ATTTTG/TTTAAT 3 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1385465831,2
    --116890837(+) TTTTGC/TTAATG 3 -- us2k10--------
    rs1155393111,2
    F,--116890949(+) ATCTCA/CTTTCT 3 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1415112681,2
    --116890988(+) AGGAGA/CAAAAA 3 -- us2k10--------
    rs1836840861,2
    --116891039(+) AAAGAC/TGTAAT 3 -- us2k10--------
    rs1462807791,2
    --116891098(+) CAACAC/GAACTT 3 -- us2k10--------
    rs1484738391,2
    --116891127(+) AGCCAA/GAAATC 3 -- us2k10--------
    rs748450411,2
    F,--116891161(+) TTAATG/CCACTA 3 -- us2k11Minor allele frequency- C:0.03NA 120

    HapMap Linkage Disequilibrium report for RWDD1 (116892530 - 116918838 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RWDD1: --

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RWDD1 for disorders           About GeneDecksing

    3 diseases for RWDD1:    About MalaCards
    cleft lip/palate    cleft lip    malaria

    Human Genome Epidemiology (HuGE) Navigator: RWDD1 (1 document)

    Export disorders for RWDD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RWDD1 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with RWDD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2, 3 Lai C.H....Lin W. (2000)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1 Vieira A.R....Marazita M.L. (2008)
    10. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51389 HGNC: 20993 AceView: RWDD1 Ensembl:ENSG00000111832 euGenes: HUgn51389
    ECgene: RWDD1 H-InvDB: RWDD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RWDD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RWDD1 gene:
    Search GeneIP for patents involving RWDD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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