• Gene id: 84447

Gene Summary

• Gene Symbol: SYVN1   Gene   UCSC   Ensembl
• Aliases: DER3, HRD1
• Gene name: synoviolin 1
• Alternate names: E3 ubiquitin-protein ligase synoviolin, HMG-coA reductase degradation 1 homolog, RING-type E3 ubiquitin transferase synoviolin, synovial apoptosis inhibitor 1, synoviolin,
• Gene location: 11q13.1 (65135177: 65127278)     Exons: 16     NC_000011.10
• Gene summary(Entrez): This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquiti
• OMIM: 605239

Protein Summary

• Protein general information: Q86TM6  
  • Name: E3 ubiquitin protein ligase synoviolin (EC 2.3.2.27) (RING type E3 ubiquitin transferase synoviolin) (Synovial apoptosis inhibitor 1)
  • Length: 617  
  • Mass: 67685
  • Tissue specificity: Ubiquitously expressed, with highest levels in liver and kidney (at protein level). Up-regulated in synovial tissues from patients with rheumatoid arthritis (at protein level). {ECO
• Sequence:

  MFRTAVMMAASLALTGAVVAHAYYLKHQFYPTVVYLTKSSPSMAVLYIQAFVLVFLLGKVMGKVFFGQLRAAEME
  HLLERSWYAVTETCLAFTVFRDDFSPRFVALFTLLLFLKCFHWLAEDRVDFMERSPNISWLFHCRIVSLMFLLGI
  LDFLFVSHAYHSILTRGASVQLVFGFEYAILMTMVLTIFIKYVLHSVDLQSENPWDNKAVYMLYTELFTGFIKVL
  LYMAFMTIMIKVHTFPLFAIRPMYLAMRQFKKAVTDAIMSRRAIRNMNTLYPDATPEELQAMDNVCIICREEMVT
  GAKRLPCNHIFHTSCLRSWFQRQQTCPTCRMDVLRASLPAQSPPPPEPADQGPPPAPHPPPLLPQPPNFPQGLLP
  PFPPGMFPLWPPMGPFPPVPPPPSSGEAVAPPSTSAAALSRPSGAATTTAAGTSATAASATASGPGSGSAPEAGP
  APGFPFPPPWMGMPLPPPFAFPPMPVPPAGFAGLTPEELRALEGHERQHLEARLQSLRNIHTLLDAAMLQINQYL
  TVLASLGPPRPATSVNSTEETATTVVAAASSTSIPSSEATTPTPGASPPAPEMERPPAPESVGTEEMPEDGEPDA
  AELRRRRLQKLESPVAH

• Structural information:
  • Interpro: IPR032832  IPR001841  IPR013083  
  • Prosite: PS50089
  • PDB: 6A3Z
  • PDBsum: 6A3Z
  • DIP: 43982
  • STRING: ENSP00000366395
• Other Databases: GeneCards:  SYVN1  Malacards:  SYVN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0051082	unfolded protein binding	IPI	molecular function
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:0005790	smooth endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0061630	ubiquitin protein ligase activity	NAS	molecular function
GO:1990381	ubiquitin-specific protease binding	IPI	molecular function
GO:1990381	ubiquitin-specific protease binding	IPI	molecular function
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA	biological process
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0070936	protein K48-linked ubiquitination	IDA	biological process
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0000836	Hrd1p ubiquitin ligase complex	TAS	cellular component
GO:0000836	Hrd1p ubiquitin ligase complex	TAS	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	NAS	cellular component
GO:0051087	chaperone binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	TAS	biological process
GO:0036513	Derlin-1 retrotranslocation complex	IDA	cellular component
GO:0036503	ERAD pathway	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0016567	protein ubiquitination	IDA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IDA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IDA	biological process
GO:0050821	protein stabilization	IMP	biological process
GO:0016567	protein ubiquitination	TAS	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	TAS	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	TAS	biological process
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0030970	retrograde protein transport, ER to cytosol	IMP	biological process
GO:0036513	Derlin-1 retrotranslocation complex	IBA	cellular component
GO:0030970	retrograde protein transport, ER to cytosol	IBA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:1990381	ubiquitin-specific protease binding	IBA	molecular function
GO:0070936	protein K48-linked ubiquitination	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0051082	unfolded protein binding	IBA	molecular function
GO:0030968	endoplasmic reticulum unfolded protein response	IBA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0000836	Hrd1p ubiquitin ligase complex	IBA	cellular component
GO:0000839	Hrd1p ubiquitin ligase ERAD-L complex	IDA	cellular component
GO:0061630	ubiquitin protein ligase activity	IMP	molecular function
GO:0002327	immature B cell differentiation	ISS	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036503	ERAD pathway	IMP	biological process
GO:0000839	Hrd1p ubiquitin ligase ERAD-L complex	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0000836	Hrd1p ubiquitin ligase complex	IEA	cellular component
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IMP	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:1904380	endoplasmic reticulum mannose trimming	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:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0051082	unfolded protein binding	IPI	molecular function
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:0005790	smooth endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0061630	ubiquitin protein ligase activity	NAS	molecular function
GO:1990381	ubiquitin-specific protease binding	IPI	molecular function
GO:1990381	ubiquitin-specific protease binding	IPI	molecular function
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA	biological process
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0070936	protein K48-linked ubiquitination	IDA	biological process
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0000836	Hrd1p ubiquitin ligase complex	TAS	cellular component
GO:0000836	Hrd1p ubiquitin ligase complex	TAS	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	NAS	cellular component
GO:0051087	chaperone binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	TAS	biological process
GO:0036513	Derlin-1 retrotranslocation complex	IDA	cellular component
GO:0036503	ERAD pathway	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0016567	protein ubiquitination	IDA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IDA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IDA	biological process
GO:0050821	protein stabilization	IMP	biological process
GO:0016567	protein ubiquitination	TAS	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	TAS	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	TAS	biological process
GO:0044322	endoplasmic reticulum quality control compartment	TAS	cellular component
GO:0030970	retrograde protein transport, ER to cytosol	IMP	biological process
GO:0036513	Derlin-1 retrotranslocation complex	IBA	cellular component
GO:0030970	retrograde protein transport, ER to cytosol	IBA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:1990381	ubiquitin-specific protease binding	IBA	molecular function
GO:0070936	protein K48-linked ubiquitination	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0051082	unfolded protein binding	IBA	molecular function
GO:0030968	endoplasmic reticulum unfolded protein response	IBA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0000836	Hrd1p ubiquitin ligase complex	IBA	cellular component
GO:0000839	Hrd1p ubiquitin ligase ERAD-L complex	IDA	cellular component
GO:0061630	ubiquitin protein ligase activity	IMP	molecular function
GO:0002327	immature B cell differentiation	ISS	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036503	ERAD pathway	IMP	biological process
GO:0000839	Hrd1p ubiquitin ligase ERAD-L complex	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0000836	Hrd1p ubiquitin ligase complex	IEA	cellular component
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IMP	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0061630	ubiquitin protein ligase activity	TAS	molecular function
GO:1904380	endoplasmic reticulum mannose trimming	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:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum
hsa04120	Ubiquitin mediated proteolysis

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq