DERL1 (derlin 1)

Gene

• Entrez ID: 79139
• Gene name: Derlin 1
• Gene symbol: DERL1
• Synonyms: DER-1, DER1, derlin-1
• Chromosome: 8
• Chromosome location: 8q24.13
• Summary: 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 degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer`s disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000172	hsa-miR-21-5p	Luciferase reporter assay, Quantitative proteomic approach	19253296
MIRT000172	hsa-miR-21-5p	Microarray	18591254
MIRT028468	hsa-miR-30a-5p	Proteomics	18668040
MIRT031154	hsa-miR-19b-3p	Sequencing	20371350
MIRT050045	hsa-miR-26b-5p	CLASH	23622248
MIRT497912	hsa-miR-139-5p	PAR-CLIP	22291592
MIRT727878	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT727879	hsa-miR-27a-3p	HITS-CLIP	22473208

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000839	Component	Hrd1p ubiquitin ligase ERAD-L complex	IBA	21873635
GO:0002020	Function	Protease binding	IPI	25239945
GO:0005047	Function	Signal recognition particle binding	IDA	26565908
GO:0005515	Function	Protein binding	IPI	15215856, 16901789, 17872946, 18555783, 18675248, 19135427, 19275885, 19818707, 24089527, 25239945, 25416956, 29275994, 32296183
GO:0005769	Component	Early endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	15215855, 16186510
GO:0005783	Component	Endoplasmic reticulum	IMP	16449189
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006457	Process	Protein folding	TAS
GO:0006986	Process	Response to unfolded protein	IMP	15215855
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IDA	15215855
GO:0016032	Process	Viral process	IEA
GO:0016567	Process	Protein ubiquitination	TAS
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IBA	21873635
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IDA	15215856
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	IBA	21873635
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	IDA	15215856, 17872946
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	IMP	18555783
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	TAS	22013210
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IBA	21873635
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IDA	15215856
GO:0030970	Process	Retrograde protein transport, ER to cytosol	IDA	15215856
GO:0030970	Process	Retrograde protein transport, ER to cytosol	IMP	15215855, 25660456
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	24089527
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	24019521
GO:0031648	Process	Protein destabilization	IMP	25239945
GO:0032092	Process	Positive regulation of protein binding	IMP	24089527
GO:0036502	Component	Derlin-1-VIMP complex	IDA	15215856
GO:0036503	Process	ERAD pathway	IMP	25239945
GO:0036513	Component	Derlin-1 retrotranslocation complex	IDA	15215856, 17872946, 25239945
GO:0038023	Function	Signaling receptor activity	NAS	15215856
GO:0042288	Function	MHC class I protein binding	IDA	15215855
GO:0042802	Function	Identical protein binding	IPI	16186510
GO:0044322	Component	Endoplasmic reticulum quality control compartment	IEA
GO:0044877	Function	Protein-containing complex binding	IPI	26565908
GO:0045184	Process	Establishment of protein localization	TAS	15215856
GO:0051117	Function	ATPase binding	IPI	16186510, 24089527
GO:0051787	Function	Misfolded protein binding	IBA	21873635
GO:0055085	Process	Transmembrane transport	TAS
GO:0071712	Process	ER-associated misfolded protein catabolic process	IMP	24089527
GO:1990381	Function	Ubiquitin-specific protease binding	IBA	21873635
GO:1990381	Function	Ubiquitin-specific protease binding	IPI	17000876

Other IDs

• MIM: 608813
• HGNC: 28454
• e!Ensembl: ENSG00000136986

Protein

• UniProt ID: Q9BUN8
• Protein name: Derlin-1 (Degradation in endoplasmic reticulum protein 1) (DERtrin-1) (Der1-like protein 1)
• Protein function: Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded protein (PubMed:15215856). Also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). ; (Microbial infection) In case of infection by cytomegaloviruses, it plays a central role in the export from the ER and subsequent degradation of MHC class I heavy chains via its interaction with US11 viral protein, which recognizes and associates with MHC class I heavy chains. Also participates in the degradation process of misfolded cytomegalovirus US2 protein.
• PDB: 5GLF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04511	DER1	11 → 204	Der1-like family	Family

• Sequence:

  MSDIGDWFRSIPAITRYWFAATVAVPLVGKLGLISPAYLFLWPEAFLYRFQIWRPITATF
  YFPVGPGTGFLYLVNLYFLYQYSTRLETGAFDGRPADYLFMLLFNWICIVITGLAMDMQL
  LMIPLIMSVLYVWAQLNRDMIVSFWFGTRFKACYLPWVILGFNYIIGGSVINELIGNLVG
  HLYFFLMFRYPMDLGGRNFLSTPQFLYRWLPSRRGGVSGFGVPPASMRRAADQNGGGGRH
  NWGQGFRLGDQ

• Sequence length: 251