• Gene id: 283514

Gene Summary

• Gene Symbol: SIAH3   Gene   UCSC   Ensembl
• Gene name: siah E3 ubiquitin protein ligase family member 3
• Alternate names: seven in absentia homolog 3, siah-3,
• Gene location: 13q14.13 (45851752: 45777241)     Exons: 11     NC_000013.11
• OMIM: 615609

Protein Summary

• Protein general information: Q8IW03  
  • Name: Seven in absentia homolog 3 (Siah 3)
  • Length: 269  
  • Mass: 30660
• Sequence:

  MLFFTQCFGAVLDLIHLRFQHYKAKRVFSAAGQLVCVVNPTHNLKYVSSRRAVTQSAPEQGSFHPHHLSHHHCHH
  RHHHHLRHHAHPHHLHHQEAGLHANPVTPCLCMCPLFSCQWEGRLEVVVPHLRQIHRVDILQGAEIVFLATDMHL
  PAPADWIIMHSCLGHHFLLVLRKQERHEGHPQFFATMMLIGTPTQADCFTYRLELNRNHRRLKWEATPRSVLECV
  DSVITDGDCLVLNTSLAQLFSDNGSLAIGIAITATEVLPSEAEM

• Structural information:
  • Interpro: IPR018121  IPR004162  IPR008974  
  • STRING: ENSP00000383256
• Other Databases: GeneCards:  SIAH3  Malacards:  SIAH3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903215	negative regulation of protein targeting to mitochondrion	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0031647	regulation of protein stability	IMP	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0031624	ubiquitin conjugating enzyme binding	IBA	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq