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    RWDD3 RWD domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 25950, updated on 17-Jun-2019

    Summary

    Official Symbol
    RWDD3provided by HGNC
    Official Full Name
    RWD domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:21393
    See related
    Ensembl:ENSG00000122481 MIM:615875
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RSUME
    Expression
    Ubiquitous expression in prostate (RPKM 8.1), endometrium (RPKM 7.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See RWDD3 in Genome Data Viewer
    Location:
    1p21.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (95234155..95247225)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (95699711..95712781)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ALG14 UDP-N-acetylglucosaminyltransferase subunit Neighboring gene uncharacterized LOC101928098 Neighboring gene TLCD4-RWDD3 readthrough Neighboring gene TLC domain containing 4 Neighboring gene uncharacterized LOC101928118 Neighboring gene uncharacterized LOC105378864 Neighboring gene uncharacterized LOC105379825 Neighboring gene long intergenic non-protein coding RNA 1760

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Processing and activation of SUMO, organism-specific biosystem (from REACTOME)
      Processing and activation of SUMO, organism-specific biosystemThe initial translation products of SUMO1, SUMO2, and SUMO3 are precursors that have extra amino acid residues at the C-terminus (reviewed in Wang and Dasso 2009, Wilkinson and Henley 2010, Hannoun ...
    • SUMO is transferred from E1 to E2 (UBE2I, UBC9), organism-specific biosystem (from REACTOME)
      SUMO is transferred from E1 to E2 (UBE2I, UBC9), organism-specific biosystemSUMO is transferred from cysteine-173 of UBA2 to cysteine-93 of UBC9 (UBE2I) in a transthiolation reaction (reviewed in Wang and Dasso 2009, Wilkinson and Henley 2010, Hannoun et al. 2010, Gareau and...
    • SUMOylation, organism-specific biosystem (from REACTOME)
      SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough TLCD4-RWDD3

    Readthrough gene: TLCD4-RWDD3, Included gene: TLCD4

    Homology

    Clone Names

    • FLJ51225, DKFZp566K023

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    RWD domain-containing protein 3
    Names
    RWD domain-containing sumoylation enhancer
    RWD-containing sumoylation enhancer

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001128142.1NP_001121614.1  RWD domain-containing protein 3 isoform b

      See identical proteins and their annotated locations for NP_001121614.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AA825527, AK292699, AL050062, CN306675
      Consensus CDS
      CCDS44177.1
      UniProtKB/Swiss-Prot
      Q9Y3V2
      UniProtKB/TrEMBL
      D3DT49
      Related
      ENSP00000263893.6, ENST00000263893.10
      Conserved Domains (1) summary
      pfam05773
      Location:1111
      RWD; RWD domain
    2. NM_001199682.1NP_001186611.1  RWD domain-containing protein 3 isoform c

      See identical proteins and their annotated locations for NP_001186611.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site, which results in a frameshift, compared to variant 1. The encoded isoform (c) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AA336662, AA825527, BC065813, DC409838
      Conserved Domains (1) summary
      pfam05773
      Location:1111
      RWD; RWD domain
    3. NM_001278247.1NP_001265176.1  RWD domain-containing protein 3 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains multiple differences compared to variant 1, including containing an alternate exon in the 5' region. It initiates translation at an alternate start site. The encoded isoform (d) is shorter and has distinct N- and C- termini, compared to isoform a.
      Source sequence(s)
      AA336662, AA825527, BC125142, DC409838
      UniProtKB/Swiss-Prot
      Q9Y3V2
      Conserved Domains (1) summary
      pfam05773
      Location:2096
      RWD; RWD domain
    4. NM_001278248.1NP_001265177.1  RWD domain-containing protein 3 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate exon in the 5' region, and initiates translation at an alternate start site, compared to variant 1. The encoded isoform (e) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AA825527, BC125142, CA454169, CN306675, DC409838
      UniProtKB/Swiss-Prot
      Q9Y3V2
      Conserved Domains (1) summary
      pfam05773
      Location:2096
      RWD; RWD domain
    5. NM_015485.5NP_056300.3  RWD domain-containing protein 3 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC092802
      Consensus CDS
      CCDS41357.1
      Related
      ENSP00000359221.4, ENST00000370202.5
      Conserved Domains (1) summary
      smart00591
      Location:8114
      RWD; domain in RING finger and WD repeat containing proteins and DEXDc-like helicases subfamily related to the UBCc domain

    RNA

    1. NR_103483.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA825527, BC010936, CN306675, DC409838
      Related
      ENST00000495272.5
    2. NR_103484.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) contains multiple differences in the internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AA825527, BC016307, BC125142, DC409838
      Related
      ENST00000497058.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      95234155..95247225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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