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DERL1 - derlin 1 Gene

Also Known as DER1; DER-1; derlin-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79139

About DERL1

Cytogenetic location: 8q24.13 Genomic coordinates (GRCh38): 8:123,013,170-123,042,302 (from NCBI)

This gene has 6 transcripts (splice variants), 209 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 22.2), fat (RPKM 21.9) and 25 other tissues.

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]

DERL1 Products (4)

mRNA	Protein	Name
NM_001134671.3	NP_001128143.1	derlin-1 isoform b
NM_001330601.2	NP_001317530.1	derlin-1 isoform c
NM_001363963.2	NP_001350892.1	derlin-1 isoform c
NM_024295.6	NP_077271.1	derlin-1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	16186510	GOA
enables MHC class I protein binding	IDA IDA: Inferred from direct assay	15215855	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16186510	GOA
enables protease binding	IPI IPI: Inferred from physical interaction	25239945	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15215856	GOA
enables protein-containing complex binding	IPI IPI: Inferred from physical interaction	26565908	GOA
enables signal recognition particle binding	IDA IDA: Inferred from direct assay	26565908	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	24019521	GOA
enables ubiquitin-specific protease binding	IPI IPI: Inferred from physical interaction	17000876	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ERAD pathway	IDA IDA: Inferred from direct assay	15215856	GOA
involved in ERAD pathway	IMP IMP: Inferred from mutant phenotype	18555783	GOA
involved in cellular response to misfolded protein	IMP IMP: Inferred from mutant phenotype	24089527	GOA
involved in endoplasmic reticulum unfolded protein response	IDA IDA: Inferred from direct assay	15215856	GOA
involved in positive regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	24089527	GOA
involved in protein destabilization	IMP IMP: Inferred from mutant phenotype	25239945	GOA
acts upstream of or within response to unfolded protein	IMP IMP: Inferred from mutant phenotype	15215855	GOA
involved in retrograde protein transport, ER to cytosol	IDA IDA: Inferred from direct assay	15215856	GOA
acts upstream of or within retrograde protein transport, ER to cytosol	IMP IMP: Inferred from mutant phenotype	15215855	GOA
involved in retrograde protein transport, ER to cytosol	IMP IMP: Inferred from mutant phenotype	25660456	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Derlin-1 retrotranslocation complex	IDA IDA: Inferred from direct assay	15215856	GOA
part of Derlin-1-VIMP complex	IDA IDA: Inferred from direct assay	15215856	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15215855	GOA
located in endoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	16449189	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15215856	GOA
located in membrane	IDA IDA: Inferred from direct assay	15215855	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DERL1 Protein Structure

DER1

0
100
200
251 a.a.

Protein Preferred Names	Protein Names
derlin-1	DERtrin-1

DERL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DERL1	Q9BUN8	RETREG3	Homo sapiens	Q86VR2	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	RETREG3	Homo sapiens	Q86VR2	Y2H Array	32296183
Intra	DERL1	Q9BUN8	SLC30A8	Homo sapiens	Q8IWU4	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	SLC30A8	Homo sapiens	Q8IWU4	Y2H Array	32296183
Intra	DERL1	Q9BUN8	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	DERL1	Q9BUN8	SLC7A8	Homo sapiens	Q9UHI5	Validated Y2H	32296183
Intra	DERL1	Q9BUN8	SLC7A8	Homo sapiens	Q9UHI5	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	SLC7A8	Homo sapiens	Q9UHI5	Y2H Array	32296183
Intra	DERL1	Q9BUN8	SCN3B	Homo sapiens	Q9NY72	Y2H Array	32296183
Intra	DERL1	Q9BUN8	SCN3B	Homo sapiens	Q9NY72	Validated Y2H	32296183
Intra	DERL1	Q9BUN8	SCN3B	Homo sapiens	Q9NY72	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	SLC10A6	Homo sapiens	Q3KNW5	Y2H Array	32296183
Intra	DERL1	Q9BUN8	SLC10A6	Homo sapiens	Q3KNW5	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	FFAR2	Homo sapiens	O15552	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	FFAR2	Homo sapiens	O15552	Y2H Array	32296183
Intra	DERL1	Q9BUN8	HM13	Homo sapiens	Q8TCT9	Anti Tag CoIP	25239945
Intra	DERL1	Q9BUN8	CFTR	Homo sapiens	P13569	Anti Bait CoIP	16901789
Intra	DERL1	Q9BUN8	SLC10A1	Homo sapiens	Q14973	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	SLC10A1	Homo sapiens	Q14973	Y2H Array	32296183
Intra	DERL1	Q9BUN8	FCRL4	Homo sapiens	Q96PJ5	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	FCRL4	Homo sapiens	Q96PJ5	Y2H Array	32296183
Intra	DERL1	Q9BUN8	SLC7A14	Homo sapiens	Q8TBB6	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	SLC7A14	Homo sapiens	Q8TBB6	Y2H Array	32296183
Intra	DERL1	Q9BUN8	TMX2	Homo sapiens	Q9Y320	Y2H Array	32296183
Intra	DERL1	Q9BUN8	TMX2	Homo sapiens	Q9Y320	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	TMX2	Homo sapiens	Q9Y320	Validated Y2H	32296183
Intra	DERL1	Q9BUN8	ABHD4	Homo sapiens	Q8TB40	Y2H Array	32296183
Intra	DERL1	Q9BUN8	ABHD4	Homo sapiens	Q8TB40	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	TCF25	Homo sapiens	Q9BQ70	Validated Y2H	25416956
Intra	DERL1	Q9BUN8	TCF25	Homo sapiens	Q9BQ70	Y2H Array	25416956
Intra	DERL1	Q9BUN8	TCF25	Homo sapiens	Q9BQ70	Y2H Prey Pooling	25416956
Intra	DERL1	Q9BUN8	KASH5	Homo sapiens	Q8N6L0	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	KASH5	Homo sapiens	Q8N6L0	Y2H Array	32296183
Intra	DERL1	Q9BUN8	CIAO2A	Homo sapiens	Q9H5X1	Validated Y2H	32296183
Intra	DERL1	Q9BUN8	REEP4	Homo sapiens	Q9H6H4	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	REEP4	Homo sapiens	Q9H6H4	Validated Y2H	32296183
Intra	DERL1	Q9BUN8	REEP4	Homo sapiens	Q9H6H4	Y2H Array	32296183
Intra	DERL1	Q9BUN8	BCAP31	Homo sapiens	P51572	Anti Bait CoIP	18555783
Intra	DERL1	Q9BUN8	GAD2	Homo sapiens	Q05329	Y2H Array	32296183
Intra	DERL1	Q9BUN8	GAD2	Homo sapiens	Q05329	Y2H Prey Pooling	32296183
Intra	DERL1	Q9BUN8	UBE2J1	Homo sapiens	Q9Y385	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03699	DERL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DERL1	MGD	MGI:1915069
Bos taurus	DERL1	VGNC	VGNC:28010
Canis familiaris	DERL1	VGNC	VGNC:39902
Felis catus	DERL1	VGNC	VGNC:61448
Macaca mulatta	DERL1	VGNC	VGNC:71777
Rattus norvegicus	DERL1	RGD	RGD:1311835
Others	DERL1	NCBI