Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	25950
Gene name	RWD domain containing 3
Gene symbol	RWDD3
Synonyms (NCBI Gene)	RSUME
Chromosome	1
Chromosome location	1p21.3

Show/Hide all (50)

miRTarBase ID	miRNA	Experiments
MIRT1323204	hsa-miR-1206	CLIP-seq
MIRT1323205	hsa-miR-4255	CLIP-seq
MIRT1323206	hsa-miR-4729	CLIP-seq
MIRT1323207	hsa-miR-513a-3p	CLIP-seq
MIRT1323208	hsa-miR-579	CLIP-seq
MIRT2616263	hsa-miR-1200	CLIP-seq
MIRT2616264	hsa-miR-1322	CLIP-seq
MIRT2616265	hsa-miR-1343	CLIP-seq
MIRT2616266	hsa-miR-300	CLIP-seq
MIRT2616267	hsa-miR-3074-5p	CLIP-seq
MIRT2616268	hsa-miR-3119	CLIP-seq
MIRT2616269	hsa-miR-3124-3p	CLIP-seq
MIRT2616270	hsa-miR-3128	CLIP-seq
MIRT2616271	hsa-miR-3140-3p	CLIP-seq
MIRT2616272	hsa-miR-3140-5p	CLIP-seq
MIRT2616273	hsa-miR-3614-3p	CLIP-seq
MIRT2616274	hsa-miR-375	CLIP-seq
MIRT2616275	hsa-miR-381	CLIP-seq
MIRT2616276	hsa-miR-3919	CLIP-seq
MIRT2616277	hsa-miR-3977	CLIP-seq
MIRT2616278	hsa-miR-4326	CLIP-seq
MIRT2616279	hsa-miR-4470	CLIP-seq
MIRT2616280	hsa-miR-4659a-3p	CLIP-seq
MIRT2616281	hsa-miR-4659b-3p	CLIP-seq
MIRT2616282	hsa-miR-4666-3p	CLIP-seq
MIRT2616283	hsa-miR-4670-3p	CLIP-seq
MIRT2616284	hsa-miR-4756-3p	CLIP-seq
MIRT2616285	hsa-miR-889	CLIP-seq
MIRT2616286	hsa-miR-892b	CLIP-seq
MIRT2616263	hsa-miR-1200	CLIP-seq
MIRT2616264	hsa-miR-1322	CLIP-seq
MIRT2616265	hsa-miR-1343	CLIP-seq
MIRT2616266	hsa-miR-300	CLIP-seq
MIRT2616267	hsa-miR-3074-5p	CLIP-seq
MIRT2616268	hsa-miR-3119	CLIP-seq
MIRT2616269	hsa-miR-3124-3p	CLIP-seq
MIRT2616270	hsa-miR-3128	CLIP-seq
MIRT2616271	hsa-miR-3140-3p	CLIP-seq
MIRT2616272	hsa-miR-3140-5p	CLIP-seq
MIRT2616273	hsa-miR-3614-3p	CLIP-seq
MIRT2616274	hsa-miR-375	CLIP-seq
MIRT2616275	hsa-miR-381	CLIP-seq
MIRT2616278	hsa-miR-4326	CLIP-seq
MIRT2616279	hsa-miR-4470	CLIP-seq
MIRT2616280	hsa-miR-4659a-3p	CLIP-seq
MIRT2616281	hsa-miR-4659b-3p	CLIP-seq
MIRT2616282	hsa-miR-4666-3p	CLIP-seq
MIRT2616283	hsa-miR-4670-3p	CLIP-seq
MIRT2616285	hsa-miR-889	CLIP-seq
MIRT2616286	hsa-miR-892b	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17956732, 23469069
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IDA	23469069
GO:0033235	Process	Positive regulation of protein sumoylation	IDA	23469069
GO:0033235	Process	Positive regulation of protein sumoylation	IEA
GO:1902073	Process	Positive regulation of hypoxia-inducible factor-1alpha signaling pathway	IDA	23469069
GO:1902073	Process	Positive regulation of hypoxia-inducible factor-1alpha signaling pathway	IEA

MIM	HGNC	e!Ensembl
615875	21393	ENSG00000122481

Q9Y3V2

Protein name

RWD domain-containing protein 3 (RWD domain-containing sumoylation enhancer) (RSUME)

Protein function

Enhancer of SUMO conjugation. Via its interaction with UBE2I/UBC9, increases SUMO conjugation to proteins by promoting the binding of E1 and E2 enzymes, thioester linkage between SUMO and UBE2I/UBC9 and transfer of SUMO to specific target protei

PDB

2EBK , 4Y1L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05773	RWD	3 → 111	RWD domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in glioma tumors (at protein level). Expressed in a wide number of tissues with highest expression in cerebellum, pituitary, heart, kidney, liver, stomach, pancreas, prostate and spleen. Low levels

Sequence

MAEPVQEELSVLAAIFCRPHEWEVLSRSETDGTVFRIHTKAEGFMDVDIPLELVFHLPVN
YPSCLPGISINSEQLTRAQCVTVKENLLEQAESLLSEPMVHELVLWIQQNLRHILSQPET
GSGSEKCTFSTSTTMDDGLWITLLHLDHMRAKTKYVKIVEKWASDLRLTGRLMFMGKIIL
ILLQGDRNNLKEYLILQKTSKVDVDSSGKKCKEKMISVLFETKVQTEHKRFLAFEVKEYS
ALDELQKEFETAGLKKLFSEFVLALVK

Sequence length

267

Interactions

View interactions

	Reactome
			SUMO is transferred from E1 to E2 (UBE2I, UBC9)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	25500545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24098497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25500545, 30890701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	37330465	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29977365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29977365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29436665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	25500545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37925421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	34768754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25500545, 29436665, 30890701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	25500545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	19407504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30890701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	34031191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	25500545		★★★★★ ★☆☆☆☆ Found in Text Mining only

RWDD3 (RWD domain containing 3)