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

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; 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, Nov 2024]
Expression: Ubiquitous expression in prostate (RPKM 8.1), endometrium (RPKM 7.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impact of RSUME Actions on Biomolecular Modifications in Physio-Pathological Processes.
Title: Impact of RSUME Actions on Biomolecular Modifications in Physio-Pathological Processes.
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.
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.
RSUME has a role in tumorigenesis and metastasis of pancreatic neuroendocrine tumors
Title: RSUME is implicated in tumorigenesis and metastasis of pancreatic neuroendocrine tumors.
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.
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.
an important role of RSUME in cancer and inflammation
Title: Role of RSUME in inflammation and cancer.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL033903 (e-PCR)
- UniSTS:93779

RH68937 (e-PCR)
- UniSTS:36743

AL009789 (e-PCR)
- UniSTS:9878

NoName (e-PCR)
- UniSTS:486074

SHGC-75187 (e-PCR)
- UniSTS:46543

Readthrough TLCD4-RWDD3

Readthrough gene: TLCD4-RWDD3, Included gene: TLCD4

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)

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
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
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
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
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

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
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