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Aliases for DERL1 Gene

Aliases for DERL1 Gene

  • Derlin 1 2 3 5
  • Degradation In Endoplasmic Reticulum Protein 1 3 4
  • Der1-Like Domain Family, Member 1 2 3
  • DERtrin-1 3 4
  • DER1 3 4
  • Der1-Like Protein 1 4
  • Derlin-1 3
  • DER-1 3

External Ids for DERL1 Gene

Previous GeneCards Identifiers for DERL1 Gene

  • GC08M124094
  • GC08M119351

Summaries for DERL1 Gene

Entrez Gene Summary for DERL1 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 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]

GeneCards Summary for DERL1 Gene

DERL1 (Derlin 1) is a Protein Coding gene. Diseases associated with DERL1 include Cystic Fibrosis. Among its related pathways are Protein processing in endoplasmic reticulum and HIV Life Cycle. GO annotations related to this gene include receptor activity and MHC class I protein binding. An important paralog of this gene is DERL2.

UniProtKB/Swiss-Prot for DERL1 Gene

  • Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded protein (PubMed:15215856). Also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908).

  • (Microbial infection) In case of infection by cytomegaloviruses, it plays a central role in the export from the ER and subsequent degradation of MHC class I heavy chains via its interaction with US11 viral protein, which recognizes and associates with MHC class I heavy chains. Also participates in the degradation process of misfolded cytomegalovirus US2 protein.

Gene Wiki entry for DERL1 Gene

Additional gene information for DERL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DERL1 Gene

Genomics for DERL1 Gene

Regulatory Elements for DERL1 Gene

Enhancers for DERL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H123033 1.4 Ensembl ENCODE dbSUPER 33.9 +5.6 5647 6 HDGF PKNOX1 FOXA2 ATF1 TBL1XR1 SIN3A FEZF1 ZBTB40 BATF RAD21 DERL1 FAM91A1 LOC105375738 ENSG00000254000 ENSG00000253607 TBC1D31
GH08H123155 1.7 Ensembl ENCODE dbSUPER 22.5 -115.1 -115089 3 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 PPARGC1A SSRP1 GLIS1 NBN NR2C1 FAM91A1 DERL1 LOC105375738 ENSG00000254249 FER1L6-AS1 LOC392268 ENSG00000254000 ARF1P3 FAM83A C8orf76
GH08H123616 1.5 Ensembl ENCODE dbSUPER 15.2 -576.0 -575982 4 HDGF FOXA2 ATF1 MLX ZFP64 ARID4B SLC30A9 CBX5 ATF7 KAT8 DERL1 FAM91A1 KLHL38 FBXO32 LOC105375738
GH08H122779 1.7 FANTOM5 ENCODE dbSUPER 10.8 +260.5 260491 4 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZHX2 TBC1D31 DERL1 C8orf76 PIR52073
GH08H123065 1.2 Ensembl ENCODE 13.2 -23.4 -23378 0 HDAC1 HDGF RB1 ARNT ZNF133 FEZF1 ZBTB40 ZBTB7B RAD21 TCF12 DERL1 TBC1D31 ENSG00000238901 ENSG00000253607 FAM83A-AS1 RNY4P5 HMGB1P19
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DERL1 on UCSC Golden Path with GeneCards custom track

Promoters for DERL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000229947 323 1801 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 SP3

Genomic Location for DERL1 Gene

Chromosome:
8
Start:
123,013,164 bp from pter
End:
123,042,423 bp from pter
Size:
29,260 bases
Orientation:
Minus strand

Genomic View for DERL1 Gene

Genes around DERL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DERL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DERL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DERL1 Gene

Proteins for DERL1 Gene

  • Protein details for DERL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUN8-DERL1_HUMAN
    Recommended name:
    Derlin-1
    Protein Accession:
    Q9BUN8
    Secondary Accessions:
    • B3KW41
    • E9PH19

    Protein attributes for DERL1 Gene

    Size:
    251 amino acids
    Molecular mass:
    28801 Da
    Quaternary structure:
    • Forms homo- and heterooligomers with DERL2 and DERL3; binding to DERL3 is poorer than that between DERL2 and DERL3. Interacts with AMFR, SELENOS, SEL1L, SELENOK, SYVN1 and VCP, as well as with SEL1L-SYVN1 and VCP-SELENOS protein complexes; this interaction is weaker than that observed between DERL2 and these complexes. Interacts with NGLY1 and YOD1. Does not bind to EDEM1. Interacts with DNAJB9. Interacts with RNF103 (PubMed:15215856, PubMed:16055502, PubMed:16186509, PubMed:16186510, PubMed:16289116, PubMed:16449189, PubMed:18675248, PubMed:19818707, PubMed:22016385). Interacts with HM13 (PubMed:25239945). Interacts with XBP1 isoform 1 (via luminal/ectodomain domain); the interaction obviates the need for ectodomain shedding prior HM13/SPP-mediated XBP1 isoform 1 cleavage (PubMed:25239945). Interact with the signal recognition particle/SRP and the SRP receptor; in the process of endoplasmic reticulum stress-induced pre-emptive quality control (PubMed:26565908). May interact with UBXN6 (PubMed:19275885).
    • (Microbial infection) Interacts with the cytomegalovirus US11 protein.

    Three dimensional structures from OCA and Proteopedia for DERL1 Gene

    Alternative splice isoforms for DERL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DERL1 Gene

Post-translational modifications for DERL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DERL1 Gene

Domains & Families for DERL1 Gene

Gene Families for DERL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for DERL1 Gene

Suggested Antigen Peptide Sequences for DERL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BUN8

UniProtKB/Swiss-Prot:

DERL1_HUMAN :
  • Belongs to the derlin family.
Family:
  • Belongs to the derlin family.
genes like me logo Genes that share domains with DERL1: view

Function for DERL1 Gene

Molecular function for DERL1 Gene

UniProtKB/Swiss-Prot Function:
Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded protein (PubMed:15215856). Also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908).
UniProtKB/Swiss-Prot Function:
(Microbial infection) In case of infection by cytomegaloviruses, it plays a central role in the export from the ER and subsequent degradation of MHC class I heavy chains via its interaction with US11 viral protein, which recognizes and associates with MHC class I heavy chains. Also participates in the degradation process of misfolded cytomegalovirus US2 protein.

Gene Ontology (GO) - Molecular Function for DERL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 25239945
GO:0004252 serine-type endopeptidase activity IEA --
GO:0004872 receptor activity NAS 15215856
GO:0005515 protein binding IPI 15215856
GO:0031625 ubiquitin protein ligase binding IPI 24019521
genes like me logo Genes that share ontologies with DERL1: view
genes like me logo Genes that share phenotypes with DERL1: view

Animal Models for DERL1 Gene

MGI Knock Outs for DERL1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DERL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DERL1 Gene

Localization for DERL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DERL1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DERL1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
lysosome 2
endosome 2
mitochondrion 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DERL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IEA --
GO:0005770 late endosome IEA --
GO:0005783 endoplasmic reticulum IEA,IMP 16449189
GO:0005785 colocalizes_with signal recognition particle receptor complex IDA 26565908
GO:0005789 endoplasmic reticulum membrane TAS,IEA --
genes like me logo Genes that share ontologies with DERL1: view

Pathways & Interactions for DERL1 Gene

genes like me logo Genes that share pathways with DERL1: view

Gene Ontology (GO) - Biological Process for DERL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0006508 proteolysis IEA --
GO:0006810 transport IEA --
GO:0006986 response to unfolded protein IMP 15215855
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with DERL1: view

No data available for SIGNOR curated interactions for DERL1 Gene

Drugs & Compounds for DERL1 Gene

No Compound Related Data Available

Transcripts for DERL1 Gene

Unigene Clusters for DERL1 Gene

Derlin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DERL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DERL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b
SP1: -
SP2: - -
SP3:
SP4: -

Relevant External Links for DERL1 Gene

GeneLoc Exon Structure for
DERL1
ECgene alternative splicing isoforms for
DERL1

Expression for DERL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DERL1 Gene

Protein differential expression in normal tissues from HIPED for DERL1 Gene

This gene is overexpressed in Tlymphocyte (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DERL1 Gene



Protein tissue co-expression partners for DERL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DERL1 Gene:

DERL1

SOURCE GeneReport for Unigene cluster for DERL1 Gene:

Hs.241576

mRNA Expression by UniProt/SwissProt for DERL1 Gene:

Q9BUN8-DERL1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for DERL1 Gene

  • Nervous system(4.3)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with DERL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DERL1 Gene

Orthologs for DERL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DERL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DERL1 33 34
  • 99.87 (n)
dog
(Canis familiaris)
Mammalia DERL1 33 34
  • 95.09 (n)
cow
(Bos Taurus)
Mammalia DERL1 33 34
  • 92.7 (n)
mouse
(Mus musculus)
Mammalia Derl1 33 16 34
  • 92.16 (n)
rat
(Rattus norvegicus)
Mammalia Derl1 33
  • 92.16 (n)
oppossum
(Monodelphis domestica)
Mammalia DERL1 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DERL1 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves DERL1 33 34
  • 82.07 (n)
lizard
(Anolis carolinensis)
Reptilia DERL1 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia derl1 33
  • 76 (n)
Str.3016 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8076 33
zebrafish
(Danio rerio)
Actinopterygii derl1 33 34
  • 73.44 (n)
Dr.1920 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009288 33
  • 54.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta Der-1 33 34
  • 50 (n)
worm
(Caenorhabditis elegans)
Secernentea cup-2 33 34
  • 56.67 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8010 34
  • 57 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5559 33
Species where no ortholog for DERL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DERL1 Gene

ENSEMBL:
Gene Tree for DERL1 (if available)
TreeFam:
Gene Tree for DERL1 (if available)

Paralogs for DERL1 Gene

Paralogs for DERL1 Gene

(2) SIMAP similar genes for DERL1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DERL1: view

Variants for DERL1 Gene

Sequence variations from dbSNP and Humsavar for DERL1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000171640 -- 123,033,750(+) ACAAA(A/G)AAGAA intron-variant
rs1000260979 -- 123,041,616(+) GGAGG(A/T)CAGAG intron-variant, upstream-variant-2KB
rs1000376132 -- 123,024,231(+) TAGCC(C/T)TTGAA intron-variant
rs1000430911 -- 123,030,432(+) GGATT(A/T)AAAAT intron-variant
rs1000486364 -- 123,030,878(+) CACAC(C/G)AAATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DERL1 Gene

Variant ID Type Subtype PubMed ID
nsv1032827 CNV gain 25217958

Variation tolerance for DERL1 Gene

Residual Variation Intolerance Score: 37.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.99; 60.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DERL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DERL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DERL1 Gene

Disorders for DERL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DERL1 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
- elite association - COSMIC cancer census association via MalaCards
Search DERL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DERL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DERL1
genes like me logo Genes that share disorders with DERL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DERL1 Gene

Publications for DERL1 Gene

  1. A membrane protein required for dislocation of misfolded proteins from the ER. (PMID: 15215855) Lilley BN … Ploegh HL (Nature 2004) 2 3 4 22 60
  2. Ubiquitin ligase Kf-1 is involved in the endoplasmic reticulum-associated degradation pathway. (PMID: 18675248) Maruyama Y … Yamada M (Biochemical and biophysical research communications 2008) 3 4 22 60
  3. The ubiquitin-domain protein HERP forms a complex with components of the endoplasmic reticulum associated degradation pathway. (PMID: 16289116) Schulze A … Seeger M (Journal of molecular biology 2005) 3 4 22 60
  4. Multiprotein complexes that link dislocation, ubiquitination, and extraction of misfolded proteins from the endoplasmic reticulum membrane. (PMID: 16186509) Lilley BN … Ploegh HL (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 22 60
  5. The retrotranslocation protein Derlin-1 binds peptide:N-glycanase to the endoplasmic reticulum. (PMID: 16055502) Katiyar S … Lennarz WJ (Molecular biology of the cell 2005) 3 4 22 60

Products for DERL1 Gene

Sources for DERL1 Gene

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