DERL1 - derlin 1 Gene

Homo sapiens

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

Gene ID: 79139 | Gene type: protein coding

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

DERL1 Protein Structure

DER1

0
100
200
251 a.a.

Protein Preferred Names

Protein Names

derlin-1

DERtrin-1

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

Bioactive Molecules (1)

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

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