Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79139
Gene name Gene Name - the full gene name approved by the HGNC.
Derlin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DERL1
Synonyms (NCBI Gene) Gene synonyms aliases
DER-1, DER1, derlin-1
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.13
Summary Summary of gene provided in NCBI Entrez Gene.
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 degradatio
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000172 hsa-miR-21-5p Luciferase reporter assay, Quantitative proteomic approach 19253296
MIRT028468 hsa-miR-30a-5p Proteomics 18668040
MIRT000172 hsa-miR-21-5p Microarray 18591254
MIRT031154 hsa-miR-19b-3p Sequencing 20371350
MIRT050045 hsa-miR-26b-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608813 28454 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 (PubMed:15215856, PubMed:33658201). Forms homotetramers which encircle a large channel traversing the endoplasmic reticulum (ER) membrane
PDB 5GLF , 7CZB , 7Y4W , 7Y53 , 7Y59
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04511 DER1 11 204 Der1-like family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:15215855, ECO:0000269|PubMed:16449189}.
Sequence
Sequence length 251
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Protein processing in endoplasmic reticulum
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
  ABC-family proteins mediated transport
N-glycan trimming in the ER and Calnexin/Calreticulin cycle
Defective CFTR causes cystic fibrosis
E3 ubiquitin ligases ubiquitinate target proteins