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

Gene ID: 25950, updated on 28-Oct-2024

Summary

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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; AllianceGenome:HGNC:21393
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
Summary
Involved in negative regulation of NF-kappaB transcription factor activity; positive regulation of hypoxia-inducible factor-1alpha signaling pathway; and positive regulation of protein sumoylation. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in prostate (RPKM 8.1), endometrium (RPKM 7.8) and 25 other tissues See more
Orthologs
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Genomic context

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See RWDD3 in Genome Data Viewer
Location:
1p21.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (95234155..95247225)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (95082240..95095318)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 1352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1353 Neighboring gene ALG14 antisense RNA 1 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7351 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7352 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1354 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7357 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7358 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7359 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:95582918-95583064 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1104 Neighboring gene TLCD4-RWDD3 readthrough Neighboring gene TLC domain containing 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:95600812-95601312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:95601313-95601813 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:95602368-95602560 Neighboring gene RWDD3 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:95682171-95682671 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1106 Neighboring gene MPRA-validated peak328 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:95762972-95763562 Neighboring gene Sharpr-MPRA regulatory region 5488 Neighboring gene uncharacterized LOC105378864 Neighboring gene uncharacterized LOC105379825 Neighboring gene long intergenic non-protein coding RNA 1760

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Impact of RSUME Actions on Biomolecular Modifications in Physio-Pathological Processes. Fuertes M, et al. Front Endocrinol (Lausanne), 2022. PMID 35528020, Free PMC Article
  2. Knockdown of RWD domain containing 3 inhibits the malignant phenotypes of glioblastoma cells via inhibition of phosphoinositide 3-kinase/protein kinase B signaling. Chen X, et al. Exp Ther Med, 2018 Jul. PMID 29977365, Free PMC Article
  3. Role of RSUME in inflammation and cancer. Antico Arciuch VG, et al. FEBS Lett, 2015 Nov 14. PMID 26297826
  4. RSUME is implicated in tumorigenesis and metastasis of pancreatic neuroendocrine tumors. Wu Y, et al. Oncotarget, 2016 Sep 6. PMID 27506944, Free PMC Article
  5. Differential gene expression in models of pituitary prolactin-producing tumoral cells. Giacomini D, et al. Horm Res, 2009 Apr. PMID 19407504

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Impact of RSUME Actions on Biomolecular Modifications in Physio-Pathological Processes.
    Title: Impact of RSUME Actions on Biomolecular Modifications in Physio-Pathological Processes.
  2. The results show RSUME involvement in von Hippel-Lindau mutants deregulation that leads to the angiogenic phenotype of renal cell carcinoma tumors.
    Title: von Hippel-Lindau mutants in renal cell carcinoma are regulated by increased expression of RSUME.
  3. We found that PTTG overexpression in pituitary tumor cells is explained by its protein stabilization, is regulated by RSUME and accounts for PTTG tumor abundance and pathogenic action. There is no evidence so far that this mechanism operates in normal cells. This finding puts in a central role the protein stabilization-overexpression of proto-oncogenes as major regulators of cellular dysfunction.
    Title: Protein stabilization by RSUME accounts for PTTG pituitary tumor abundance and oncogenicity.
  4. RSUME has a role in tumorigenesis and metastasis of pancreatic neuroendocrine tumors
    Title: RSUME is implicated in tumorigenesis and metastasis of pancreatic neuroendocrine tumors.
  5. RSUME affects post-transcriptional expression of HIF-1a by regulating VEGF-A secretion and pituitary adenoma cells invasiveness.
    Title: Relationship between RSUME and HIF-1α/VEGF-A with invasion of pituitary adenoma.
  6. the present report suggest that the association of RWDD3 and TECTA with paclitaxel-induced peripheral neuropathy may have been a false positive signal
    Title: RWDD3 and TECTA variants not linked to paclitaxel induced peripheral neuropathy in North American trial Alliance N08C1.
  7. an important role of RSUME in cancer and inflammation
    Title: Role of RSUME in inflammation and cancer.
  8. RSUME is expressed in VHL tumors and inhibits VHL and regulates its tumor suppressor function.
    Title: RSUME inhibits VHL and regulates its tumor suppressor function.
  9. this study failed to replicate a GWAS reporting an association between the 2 SNPs rs2296308 in RWDD3 and rs1829 in the intron of TECTA and time to neuropathy in ovarian cancer patients treated with paclitaxel
    Title: GWAS-based association between RWDD3 and TECTA variants and paclitaxel induced neuropathy could not be confirmed in Scandinavian ovarian cancer patients.
  10. a degree of redundancy of the RSUME variants on the SUMO pathway
    Title: In silico structural and functional characterization of the RSUME splice variants.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI 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
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of hypoxia-inducible factor-1alpha signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein sumoylation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001128142.2 → NP_001121614.2  RWD domain-containing protein 3 isoform b

    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)
    AC092802
    Consensus CDS
    CCDS44177.1
    UniProtKB/TrEMBL
    B4DKA5
    Related
    ENSP00000263893.6, ENST00000263893.10
    Conserved Domains (1) summary
    smart00591
    Location:8 → 114
    RWD; domain in RING finger and WD repeat containing proteins and DEXDc-like helicases subfamily related to the UBCc domain

  2. NM_001199682.2 → NP_001186611.2  RWD domain-containing protein 3 isoform c

    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)
    AC092802
    Conserved Domains (1) summary
    smart00591
    Location:8 → 114
    RWD; domain in RING finger and WD repeat containing proteins and DEXDc-like helicases subfamily related to the UBCc domain

  3. NM_001278247.2 → NP_001265176.2  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)
    AC092802
    UniProtKB/TrEMBL
    B4DKA5
    Conserved Domains (1) summary
    smart00591
    Location:1 → 99
    RWD; domain in RING finger and WD repeat containing proteins and DEXDc-like helicases subfamily related to the UBCc domain

  4. NM_001278248.2 → NP_001265177.2  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)
    AC092802
    Related
    ENST00000495272.5
    Conserved Domains (1) summary
    smart00591
    Location:1 → 99
    RWD; domain in RING finger and WD repeat containing proteins and DEXDc-like helicases subfamily related to the UBCc domain

  5. NM_015485.5 → NP_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
    UniProtKB/Swiss-Prot
    A6NP44, A8K9F0, C9J9L7, C9JI45, Q08AJ7, Q6FID3, Q9BX35, Q9Y3V2
    Related
    ENSP00000359221.4, ENST00000370202.5
    Conserved Domains (1) summary
    smart00591
    Location:8 → 114
    RWD; domain in RING finger and WD repeat containing proteins and DEXDc-like helicases subfamily related to the UBCc domain

RNA

  1. NR_103483.2 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)
    AC092802

  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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    95082240..95095318
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y3V2.4 GenPept UniProtKB/Swiss-Prot:Q9Y3V2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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