• Gene id: 25950

Gene Summary

• Gene Symbol: RWDD3   Gene   UCSC   Ensembl
• Aliases: RSUME
• Gene name: RWD domain containing 3
• Alternate names: RWD domain-containing protein 3, RWD domain-containing sumoylation enhancer, RWD-containing sumoylation enhancer,
• Gene location: 1p21.3 (95234154: 95247224)     Exons: 5     NC_000001.11
• OMIM: 615875

Protein Summary

• Protein general information: Q9Y3V2  
  • Name: RWD domain containing protein 3 (RWD domain containing sumoylation enhancer) (RSUME)
  • Length: 267  
  • Mass: 30543
  • 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:

  MAEPVQEELSVLAAIFCRPHEWEVLSRSETDGTVFRIHTKAEGFMDVDIPLELVFHLPVNYPSCLPGISINSEQL
  TRAQCVTVKENLLEQAESLLSEPMVHELVLWIQQNLRHILSQPETGSGSEKCTFSTSTTMDDGLWITLLHLDHMR
  AKTKYVKIVEKWASDLRLTGRLMFMGKIILILLQGDRNNLKEYLILQKTSKVDVDSSGKKCKEKMISVLFETKVQ
  TEHKRFLAFEVKEYSALDELQKEFETAGLKKLFSEFVLALVK

• Structural information:
  • Protein Domains: (7..11-)
    (/note="RWD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00179"-)
  • Interpro: IPR006575  IPR038840  IPR016135  
  • Prosite: PS50908
  • PDB: 2EBK 4Y1L
  • PDBsum: 2EBK 4Y1L
  • STRING: ENSP00000359221
• Other Databases: GeneCards:  RWDD3  Malacards:  RWDD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033235	positive regulation of protein sumoylation	IBA	biological process
GO:1902073	positive regulation of hypoxia-inducible factor-1alpha signaling pathway	IDA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0033235	positive regulation of protein sumoylation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033235	positive regulation of protein sumoylation	IEA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IEA	biological process
GO:1902073	positive regulation of hypoxia-inducible factor-1alpha signaling pathway	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R