• Gene id: 51255

Gene Summary

• Gene Symbol: RNF181   Gene   UCSC   Ensembl
• Aliases: HSPC238
• Gene name: ring finger protein 181
• Alternate names: E3 ubiquitin-protein ligase RNF181, RING-type E3 ubiquitin transferase RNF181,
• Gene location: 2p11.2 (85593822: 85597707)     Exons: 5     NC_000002.12
• Gene summary(Entrez): RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008]

Protein Summary

• Protein general information: Q9P0P0  
  • Name: E3 ubiquitin protein ligase RNF181 (EC 2.3.2.27) (RING finger protein 181) (RING type E3 ubiquitin transferase RNF181)
  • Length: 153  
  • Mass: 17909
  • Tissue specificity: Widely expressed, with highest levels in liver and heart and lowest levels in brain and skeletal muscle. Expressed in platelets (at protein level). {ECO
• Sequence:

  MASYFDEHDCEPSDPEQETRTNMLLELARSLFNRMDFEDLGLVVDWDHHLPPPAAKTVVENLPRTVIRGSQAELK
  CPVCLLEFEEEETAIEMPCHHLFHSSCILPWLSKTNSCPLCRYELPTDDDTYEEHRRDKARKQQQQHRLENLHGA
  MYT

• Structural information:
  • Interpro: IPR001841  IPR013083  
  • Prosite: PS50089
  • STRING: ENSP00000306906
• Other Databases: GeneCards:  RNF181  Malacards:  RNF181

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016567	protein ubiquitination	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0051865	protein autoubiquitination	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	EXP	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray