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FLASH GENE

Symbol

DERL1

contributors: mct/npt - updated : 20-08-2013

HGNC name	Der1-like domain family, member 1
HGNC id	28454

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001134671 8 - 3284 NP_001128143 - 231 - 2008 18048502 NM_024295 8 - 3344 NP_077271 28.8 251 - 2008 18048502

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth       highly Endocrine pancreas         Hearing/Equilibrium ear       highly Lymphoid/Immune spleen           thymus         Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		other
STRUCTURE

motifs/domains

four transmembrane segments with both the amino and carboxy termini in the cytosol

HOMOLOGY

interspecies

ortholog to yeast Der1p

Homologene

FAMILY

derlin family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,endosome

basic FUNCTION	may be specifically required for the degradation proteins process associated with the ER
	growth factor-responsive endothelial antigen that promotes endothelial cell survival and growth
	DERL1 and FAF2 are engaged in dislocation and degradation of lipidated APOB at lipid droplets
	involved in retrotranslocation of misfolded or misassembled proteins across the ER membrane for degradation by cytosolic proteasomes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

presence of a Derlin-1-mediated ERAD pathway degrading wild-type and disease-causing vasopressin 2 R mutants with different misfolded domains

a component

forming a membrane protein complex with VIMP that serves as a receptor for VCP

INTERACTION

DNA

RNA

small molecule

protein	US11, a virally encoded ER protein
	interacting with CFTR (recognizes misfolded, nonubiquitylated CFTR to initiate its dislocation and degradation early in the course of CFTR biogenesis, perhaps by detecting structural instability within the first transmembrane domain)
	associates physically and functionally with BCAP31 in the CFTR DeltaF508 degradation pathway (Wang 2008)
	SELK interacts with all three Derlins and has a higher affinity for DERL1
	DNAJB9 associate with the integral membrane protein, DERL1
	FAF2 and DERL1 bind with each other and with lipidated APOB and show colocalization around lipid droplets (LDs)
	SOD1 (SOD1(WT)) comprises a masked DERL1 binding region, that, under zinc-deficient conditions, adopts a mutant-like conformation exposing the DBR and inducing the homeostatic ER stress response
	CAV1 may be a cofactor in the interaction of DERL1 and PTGS2 and may facilitate DERL1- and VCP complex-mediated PTGS2 ubiquitination, retrotranslocation, and degradation

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS