InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: DERL1

Summary

InnateDB Gene

IDBG-34429.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DERL1

Gene Name

derlin 1

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000136986

Encoded Proteins

IDBP-34431

Der1-like domain family, member 1

IDBP-295464

Der1-like domain family, member 1

IDBP-375878

Der1-like domain family, member 1

IDBP-474293

Der1-like domain family, member 1

IDBP-478053

Der1-like domain family, member 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 8:123013164-123042423

Strand

Reverse strand

Band

q24.13

Transcripts

ENST00000259512	ENSP00000259512
ENST00000405944	ENSP00000384289
ENST00000419562	ENSP00000389965
ENST00000524119
ENST00000519018	ENSP00000430086
ENST00000523036	ENSP00000429199

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 58 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	58 [view]
Protein-Protein	57 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0005515	protein binding
GO:0042288	MHC class I protein binding

Biological Process

GO:0006986	response to unfolded protein
GO:0019060	intracellular transport of viral protein in host cell
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process
GO:0030968	endoplasmic reticulum unfolded protein response
GO:0030970	retrograde protein transport, ER to cytosol
GO:0034620	cellular response to unfolded protein
GO:0045184	establishment of protein localization

Cellular Component

GO:0000836	Hrd1p ubiquitin ligase complex
GO:0005769	early endosome
GO:0005770	late endosome
GO:0005783	endoplasmic reticulum
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030176	integral component of endoplasmic reticulum membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000022365

View Gene Order

ENSBTAG00000020693

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa05014

Amyotrophic lateral sclerosis (ALS) pathway

hsa04141

Protein processing in endoplasmic reticulum pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.241576 Hs.597382

RefSeq

NM_001134671 NM_024295 XM_006716657

HUGO

OMIM

CCDS

CCDS47915 CCDS6337

HPRD

12302

IMGT

EMBL

GenPept

RNA Seq Atlas