Gene Gene information from NCBI Gene database.
Entrez ID 79139
Gene name Derlin 1
Gene symbol DERL1
Synonyms (NCBI Gene)
DER-1DER1derlin-1
Chromosome 8
Chromosome location 8q24.13
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 degradatio
miRNA miRNA information provided by mirtarbase database.
523
miRTarBase ID miRNA Experiments Reference
MIRT000172 hsa-miR-21-5p Luciferase reporter assayQuantitative 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IPI 25239945
GO:0005047 Function Signal recognition particle binding IBA
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, 26618866, 29275994, 32296183, 36012204
GO:0005769 Component Early endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608813 28454 ENSG00000136986
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
STEVENS-JOHNSON SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 10565302
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18036400, 27664585, 8207990
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 10485627
★☆☆☆☆
Found in Text Mining only
Adult Acute Myeloblastic Leukemia Myeloblastic Leukemia BEFREE 20513531
★☆☆☆☆
Found in Text Mining only
Adult Oligodendroglioma Oligodendroglioma BEFREE 17021403
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 21185345, 29991716
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 24076220 Associate
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman Syndrome BEFREE 15384094
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 35046954 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 27977784, 28178653
★☆☆☆☆
Found in Text Mining only