• Gene id: 11342

Gene Summary

• Gene Symbol: RNF13   Gene   UCSC   Ensembl
• Aliases: EIEE73, RZF
• Gene name: ring finger protein 13
• Alternate names: E3 ubiquitin-protein ligase RNF13, RING zinc finger protein, RING-type E3 ubiquitin transferase RNF13,
• Gene location: 3q25.1 (149812687: 149962138)     Exons: 16     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same prot
• OMIM: 604578

Protein Summary

• Protein general information: O43567  
  • Name: E3 ubiquitin protein ligase RNF13 (EC 2.3.2.27) (RING finger protein 13) (RING type E3 ubiquitin transferase RNF13)
  • Length: 381  
  • Mass: 42814
  • Tissue specificity: Widely expressed (at protein level). In normal pancreas, expressed in islets, but not in ducts, nor in acini (at protein level). {ECO
• Sequence:

  MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENASQTFDDLPARFGYRLPAEGLKGFLINSKPEN
  ACEPIVPPPVKDNSSGTFIVLIRRLDCNFDIKVLNAQRAGYKAAIVHNVDSDDLISMGSNDIEVLKKIDIPSVFI
  GESSANSLKDEFTYEKGGHLILVPEFSLPLEYYLIPFLIIVGICLILIVIFMITKFVQDRHRARRNRLRKDQLKK
  LPVHKFKKGDEYDVCAICLDEYEDGDKLRILPCSHAYHCKCVDPWLTKTKKTCPVCKQKVVPSQGDSDSDTDSSQ
  EENEVTEHTPLLRPLASVSAQSFGALSESRSHQNMTESSDYEEDDNEDTDSSDAENEINEHDVVVQLQPNGERDY
  NIANTV

• Structural information:
  • Protein Domains: (65..16-)
    (/note="PA"-)
  • Interpro: IPR003137  IPR001841  IPR013083  
  • Prosite: PS50089
  • PDB: 5ZBU 5ZC4
  • PDBsum: 5ZBU 5ZC4
  • STRING: ENSP00000341361
• Other Databases: GeneCards:  RNF13  Malacards:  RNF13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0008432	JUN kinase binding	IDA	molecular function
GO:0031902	late endosome membrane	ISS	cellular component
GO:0005765	lysosomal membrane	ISS	cellular component
GO:0004842	ubiquitin-protein transferase activity	ISS	molecular function
GO:0070304	positive regulation of stress-activated protein kinase signaling cascade	IMP	biological process
GO:0051865	protein autoubiquitination	ISS	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051865	protein autoubiquitination	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005765	lysosomal membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq