• Gene id: 55819

Gene Summary

• Gene Symbol: RNF130   Gene   UCSC   Ensembl
• Aliases: G1RZFP, GOLIATH, GP
• Gene name: ring finger protein 130
• Alternate names: E3 ubiquitin-protein ligase RNF130, RING-type E3 ubiquitin transferase RNF130, g1-related zinc finger protein, goliath homolog,
• Gene location: 5q35.3 (180071758: 179911650)     Exons: 10     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated i
• OMIM: 607659

Protein Summary

• Protein general information: Q86XS8  
  • Name: E3 ubiquitin protein ligase RNF130 (EC 2.3.2.27) (Goliath homolog) (H Goliath) (RING finger protein 130) (RING type E3 ubiquitin transferase RNF130)
  • Length: 419  
  • Mass: 46405
  • Tissue specificity: Ubiquitously expressed. Highly expressed in leukocytes. Not expressed in erythroblasts. {ECO
• Sequence:

  MSCAGRAGPARLAALALLTCSLWPARADNASQEYYTALINVTVQEPGRGAPLTFRIDRGRYGLDSPKAEVRGQVL
  APLPLHGVADHLGCDPQTRFFVPPNIKQWIALLQRGNCTFKEKISRAAFHNAVAVVIYNNKSKEEPVTMTHPGTG
  DIIAVMITELRGKDILSYLEKNISVQMTIAVGTRMPPKNFSRGSLVFVSISFIVLMIISSAWLIFYFIQKIRYTN
  ARDRNQRRLGDAAKKAISKLTTRTVKKGDKETDPDFDHCAVCIESYKQNDVVRILPCKHVFHKSCVDPWLSEHCT
  CPMCKLNILKALGIVPNLPCTDNVAFDMERLTRTQAVNRRSALGDLAGDNSLGLEPLRTSGISPLPQDGELTPRT
  GEINIAVTKEWFIIASFGLLSALTLCYMIIRATASLNANEVEWF

• Structural information:
  • Protein Domains: (105..17-)
    (/note="PA"-)
  • Interpro: IPR003137  IPR001841  IPR013083  
  • Prosite: PS50089
  • STRING: ENSP00000430237
• Other Databases: GeneCards:  RNF130  Malacards:  RNF130

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0012501	programmed cell death	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0012501	programmed cell death	ISS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray