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DERL1 (derlin 1)

Identity

Alias_namesDer1-like domain family
Alias_symbol (synonym)MGC3067
PRO2577
FLJ13784
DER1
DER-1
derlin-1
Other alias
HGNC (Hugo) DERL1
LocusID (NCBI) 79139
Atlas_Id 46086
Location 8q24.13  [Link to chromosome band 8q24]
Location_base_pair Starts at 123013164 and ends at 123042423 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DERL1 (8q24.13) / C6orf132 (6p21.1)DERL1 8q24.13 / C6orf132 6p21.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DERL1   28454
Cards
Entrez_Gene (NCBI)DERL1  79139  derlin 1
AliasesDER-1; DER1; derlin-1
GeneCards (Weizmann)DERL1
Ensembl hg19 (Hinxton)ENSG00000136986 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136986 [Gene_View]  chr8:123013164-123042423 [Contig_View]  DERL1 [Vega]
ICGC DataPortalENSG00000136986
TCGA cBioPortalDERL1
AceView (NCBI)DERL1
Genatlas (Paris)DERL1
WikiGenes79139
SOURCE (Princeton)DERL1
Genetics Home Reference (NIH)DERL1
Genomic and cartography
GoldenPath hg38 (UCSC)DERL1  -     chr8:123013164-123042423 -  8q24.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DERL1  -     8q24.13   [Description]    (hg19-Feb_2009)
EnsemblDERL1 - 8q24.13 [CytoView hg19]  DERL1 - 8q24.13 [CytoView hg38]
Mapping of homologs : NCBIDERL1 [Mapview hg19]  DERL1 [Mapview hg38]
OMIM608813   
Gene and transcription
Genbank (Entrez)AA976062 AF116708 AF131854 AI755206 AK023846
RefSeq transcript (Entrez)NM_001134671 NM_001330601 NM_024295
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DERL1
Cluster EST : UnigeneHs.241576 [ NCBI ]
CGAP (NCI)Hs.241576
Alternative Splicing GalleryENSG00000136986
Gene ExpressionDERL1 [ NCBI-GEO ]   DERL1 [ EBI - ARRAY_EXPRESS ]   DERL1 [ SEEK ]   DERL1 [ MEM ]
Gene Expression Viewer (FireBrowse)DERL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79139
GTEX Portal (Tissue expression)DERL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BUN8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BUN8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BUN8
Splice isoforms : SwissVarQ9BUN8
PhosPhoSitePlusQ9BUN8
Domains : Interpro (EBI)DER1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)DERL1
DMDM Disease mutations79139
Blocks (Seattle)DERL1
PDB (SRS)5GLF   
PDB (PDBSum)5GLF   
PDB (IMB)5GLF   
PDB (RSDB)5GLF   
Structural Biology KnowledgeBase5GLF   
SCOP (Structural Classification of Proteins)5GLF   
CATH (Classification of proteins structures)5GLF   
SuperfamilyQ9BUN8
Human Protein AtlasENSG00000136986
Peptide AtlasQ9BUN8
HPRD12302
IPIIPI00013271   IPI00902975   IPI00384360   IPI00909815   IPI00984604   
Protein Interaction databases
DIP (DOE-UCLA)Q9BUN8
IntAct (EBI)Q9BUN8
FunCoupENSG00000136986
BioGRIDDERL1
STRING (EMBL)DERL1
ZODIACDERL1
Ontologies - Pathways
QuickGOQ9BUN8
Ontology : AmiGOprotease binding  serine-type endopeptidase activity  receptor activity  protein binding  early endosome  late endosome  endoplasmic reticulum  endoplasmic reticulum  signal recognition particle receptor complex  endoplasmic reticulum membrane  protein folding  response to unfolded protein  membrane  integral component of membrane  intracellular transport of viral protein in host cell  integral component of endoplasmic reticulum membrane  ubiquitin-dependent ERAD pathway  ubiquitin-dependent ERAD pathway  ubiquitin-dependent ERAD pathway  endoplasmic reticulum unfolded protein response  retrograde protein transport, ER to cytosol  retrograde protein transport, ER to cytosol  positive regulation of protein ubiquitination  ubiquitin protein ligase binding  protein destabilization  positive regulation of protein binding  VCP-NPL4-UFD1 AAA ATPase complex  Derlin-1-VIMP complex  ERAD pathway  Derlin-1 retrotranslocation complex  MHC class I protein binding  host cell  establishment of protein localization  signal recognition particle  ATPase binding  protein homooligomerization  transmembrane transport  ER-associated misfolded protein catabolic process  ubiquitin-specific protease binding  
Ontology : EGO-EBIprotease binding  serine-type endopeptidase activity  receptor activity  protein binding  early endosome  late endosome  endoplasmic reticulum  endoplasmic reticulum  signal recognition particle receptor complex  endoplasmic reticulum membrane  protein folding  response to unfolded protein  membrane  integral component of membrane  intracellular transport of viral protein in host cell  integral component of endoplasmic reticulum membrane  ubiquitin-dependent ERAD pathway  ubiquitin-dependent ERAD pathway  ubiquitin-dependent ERAD pathway  endoplasmic reticulum unfolded protein response  retrograde protein transport, ER to cytosol  retrograde protein transport, ER to cytosol  positive regulation of protein ubiquitination  ubiquitin protein ligase binding  protein destabilization  positive regulation of protein binding  VCP-NPL4-UFD1 AAA ATPase complex  Derlin-1-VIMP complex  ERAD pathway  Derlin-1 retrotranslocation complex  MHC class I protein binding  host cell  establishment of protein localization  signal recognition particle  ATPase binding  protein homooligomerization  transmembrane transport  ER-associated misfolded protein catabolic process  ubiquitin-specific protease binding  
Pathways : KEGGProtein processing in endoplasmic reticulum    Amyotrophic lateral sclerosis (ALS)   
NDEx NetworkDERL1
Atlas of Cancer Signalling NetworkDERL1
Wikipedia pathwaysDERL1
Orthology - Evolution
OrthoDB79139
GeneTree (enSembl)ENSG00000136986
Phylogenetic Trees/Animal Genes : TreeFamDERL1
HOVERGENQ9BUN8
HOGENOMQ9BUN8
Homologs : HomoloGeneDERL1
Homology/Alignments : Family Browser (UCSC)DERL1
Gene fusions - Rearrangements
Fusion : MitelmanDERL1/C6orf132 [8q24.13/6p21.1]  
Fusion: TCGADERL1 8q24.13 C6orf132 6p21.1 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDERL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DERL1
dbVarDERL1
ClinVarDERL1
1000_GenomesDERL1 
Exome Variant ServerDERL1
ExAC (Exome Aggregation Consortium)DERL1 (select the gene name)
Genetic variants : HAPMAP79139
Genomic Variants (DGV)DERL1 [DGVbeta]
DECIPHERDERL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDERL1 
Mutations
ICGC Data PortalDERL1 
TCGA Data PortalDERL1 
Broad Tumor PortalDERL1
OASIS PortalDERL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDERL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDERL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DERL1
DgiDB (Drug Gene Interaction Database)DERL1
DoCM (Curated mutations)DERL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DERL1 (select a term)
intoGenDERL1
Cancer3DDERL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608813   
Orphanet
MedgenDERL1
Genetic Testing Registry DERL1
NextProtQ9BUN8 [Medical]
TSGene79139
GENETestsDERL1
Target ValidationDERL1
Huge Navigator DERL1 [HugePedia]
snp3D : Map Gene to Disease79139
BioCentury BCIQDERL1
ClinGenDERL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79139
Chemical/Pharm GKB GenePA134926638
Clinical trialDERL1
Miscellaneous
canSAR (ICR)DERL1 (select the gene name)
Probes
Litterature
PubMed79 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDERL1
EVEXDERL1
GoPubMedDERL1
iHOPDERL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:31:01 CEST 2017

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