• Gene id: 79139

Gene Summary

• Gene Symbol: DERL1   Gene   UCSC   Ensembl
• Aliases: DER-1, DER1, derlin-1
• Gene name: derlin 1
• Alternate names: derlin-1, DERtrin-1, Der1-like domain family, member 1, degradation in endoplasmic reticulum protein 1,
• Gene location: 8q24.13 (123042422: 123013163)     Exons: 9     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradatio
• OMIM: 608813

Protein Summary

• Protein general information: Q9BUN8  
  • Name: Derlin 1 (Degradation in endoplasmic reticulum protein 1) (DERtrin 1) (Der1 like protein 1)
  • Length: 251  
  • Mass: 28801
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MSDIGDWFRSIPAITRYWFAATVAVPLVGKLGLISPAYLFLWPEAFLYRFQIWRPITATFYFPVGPGTGFLYLVN
  LYFLYQYSTRLETGAFDGRPADYLFMLLFNWICIVITGLAMDMQLLMIPLIMSVLYVWAQLNRDMIVSFWFGTRF
  KACYLPWVILGFNYIIGGSVINELIGNLVGHLYFFLMFRYPMDLGGRNFLSTPQFLYRWLPSRRGGVSGFGVPPA
  SMRRAADQNGGGGRHNWGQGFRLGDQ

• Structural information:
  • Interpro: IPR007599  
  • PDB: 5GLF
  • PDBsum: 5GLF
  • STRING: ENSP00000259512
• Other Databases: GeneCards:  DERL1  Malacards:  DERL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0036502	Derlin-1-VIMP complex	IDA	cellular component
GO:1990381	ubiquitin-specific protease binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036513	Derlin-1 retrotranslocation complex	IDA	cellular component
GO:0036513	Derlin-1 retrotranslocation complex	IDA	cellular component
GO:0071712	ER-associated misfolded protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0036503	ERAD pathway	IMP	biological process
GO:0032092	positive regulation of protein binding	IMP	biological process
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	TAS	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0030970	retrograde protein transport, ER to cytosol	IMP	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:0031648	protein destabilization	IMP	biological process
GO:0002020	protease 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:0006986	response to unfolded protein	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0006986	response to unfolded protein	IMP	biological process
GO:0030970	retrograde protein transport, ER to cytosol	IMP	biological process
GO:0016567	protein ubiquitination	TAS	biological process
GO:0055085	transmembrane transport	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:0006457	protein folding	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: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: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:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0034620	cellular response to unfolded protein	IEA	biological process
GO:0005770	late endosome	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0030968	endoplasmic reticulum unfolded protein response	IDA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IDA	biological process
GO:0036513	Derlin-1 retrotranslocation complex	IDA	cellular component
GO:0042288	MHC class I protein binding	IDA	molecular function
GO:0030970	retrograde protein transport, ER to cytosol	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IDA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0038023	signaling receptor activity	NAS	molecular function
GO:0045184	establishment of protein localization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IMP	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum
hsa05014	Amyotrophic lateral sclerosis

Diseases

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