• Gene id: 91319

Gene Summary

• Gene Symbol: DERL3   Gene   UCSC   Ensembl
• Aliases: C22orf14, IZP6, LLN2, derlin-3
• Gene name: derlin 3
• Alternate names: derlin-3, DERtrin 3, Der1-like domain family, member 3, degradation in endoplasmic reticulum protein 3, der1-like protein 3,
• Gene location: 22q11.23 (23839347: 23834497)     Exons: 8     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be

Protein Summary

• Protein general information: Q96Q80  
  • Name: Derlin 3 (Degradation in endoplasmic reticulum protein 3) (DERtrin 3) (Der1 like protein 3)
  • Length: 235  
  • Mass: 26679
  • Tissue specificity: Unlike DERL1 and DERL2, restricted to several tissues. Expressed at high levels in placenta, pancreas, spleen and small intestine. {ECO
• Sequence:

  MAWQGLAAEFLQVPAVTRAYTAACVLTTAAVQLELLSPFQLYFNPHLVFRKFQVWRLVTNFLFFGPLGFSFFFNM
  LFVFRYCRMLEEGSFRGRTADFVFMFLFGGVLMTLLGLLGSLFFLGQALMAMLVYVWSRRSPRVRVNFFGLLTFQ
  APFLPWALMGFSLLLGNSILVDLLGIAVGHIYYFLEDVFPNQPGGKRLLQTPGFLKLLLDAPAEDPNYLPLPEEQ
  PGPHLPPPQQ

• Structural information:
  • Interpro: IPR007599  
  • STRING: ENSP00000384744
• Other Databases: GeneCards:  DERL3  Malacards:  DERL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904153	negative regulation of retrograde protein transport, ER to cytosol	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	TAS	biological process
GO:1990381	ubiquitin-specific protease binding	IBA	molecular function
GO:0051787	misfolded protein binding	IBA	molecular function
GO:0030968	endoplasmic reticulum unfolded protein response	IBA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0000839	Hrd1p ubiquitin ligase ERAD-L complex	IBA	cellular component
GO:0005785	signal recognition particle receptor complex	IDA	colocalizes with
GO:0048500	signal recognition particle	IDA	colocalizes with
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0018279	protein N-linked glycosylation via asparagine	IMP	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
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: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:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0030968	endoplasmic reticulum unfolded protein response	IDA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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