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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 Regulation of degradation of deltaF508 CFTR in CF and Amyotrophic lateral sclerosis (ALS). 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 degradation substrate. 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

No data available for 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
- Elite enhancer/Elite enhancer-gene association

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

ENSRs around DERL1 on UCSC Golden Path with GeneCards custom track

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, VIMP/SELS, SEL1L, SELK, SYVN1 and VCP, as well as with SEL1L-SYVN1 and VCP-VIMP protein complexes; this interaction is weaker than that observed between DERL2 and these complexes. Interacts with the cytomegalovirus US11 protein. Interacts with NGLY1 and YOD1. Does not bind to EDEM1. Interacts with DNAJB9 and RNF103. Part of a complex which includes CANX, DERL1, DERL2, DDOST/OST48, RPN1, RPN2, SELK, VIMP, STT3A AND VCP (PubMed:15215855, 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).

    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

Other Protein References for DERL1 Gene

No data available for DME Specific Peptides for DERL1 Gene

Domains & Families for DERL1 Gene

Gene Families for DERL1 Gene

Protein Domains for DERL1 Gene

InterPro:
ProtoNet:

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 degradation substrate. 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.
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to endoplasmic reticulum stress via the ERN1-XBP1 pathway of the unfolded protein response (UPR).

Gene Ontology (GO) - Molecular Function for DERL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 25239945
GO:0004872 receptor activity NAS 15215856
GO:0005515 protein binding IPI 15215856
GO:0031625 ubiquitin protein ligase binding IPI 24019521
GO:0042288 MHC class I protein binding IDA 15215855
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

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for DERL1 Gene COMPARTMENTS Subcellular localization image for DERL1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
endosome 2
lysosome 2
vacuole 2
cytosol 1
mitochondrion 1
peroxisome 1

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 IMP 16449189
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IDA 15215855
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

Pathways by source for DERL1 Gene

1 Cell Signaling Technology pathway for DERL1 Gene
1 BioSystems pathway for DERL1 Gene

Gene Ontology (GO) - Biological Process for DERL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006986 response to unfolded protein IMP 15215855
GO:0019060 intracellular transport of viral protein in host cell TAS 15215856
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process TAS 22013210
GO:0030968 endoplasmic reticulum unfolded protein response IDA 15215856
GO:0030970 retrograde protein transport, ER to cytosol IMP 15215855
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

Flow Cytometry Products

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 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.
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 and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia DERL1 34
  • 92.7 (n)
  • 99.2 (a)
DERL1 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DERL1 34
  • 95.09 (n)
  • 99.2 (a)
DERL1 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Derl1 34
  • 92.16 (n)
  • 97.61 (a)
Derl1 16
Derl1 35
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DERL1 34
  • 99.87 (n)
  • 100 (a)
DERL1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Derl1 34
  • 92.16 (n)
  • 97.61 (a)
oppossum
(Monodelphis domestica)
Mammalia DERL1 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DERL1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves DERL1 34
  • 82.07 (n)
  • 91.24 (a)
DERL1 35
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DERL1 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia derl1 34
  • 76 (n)
  • 85.6 (a)
Str.3016 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8076 34
zebrafish
(Danio rerio)
Actinopterygii derl1 34
  • 73.44 (n)
  • 86.06 (a)
Dr.1920 34
derl1 35
  • 83 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009288 34
  • 54.84 (n)
  • 51.21 (a)
fruit fly
(Drosophila melanogaster)
Insecta Der-1 34
  • 50 (n)
  • 43.8 (a)
Der-1 35
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cup-2 34
  • 56.67 (n)
  • 49.58 (a)
cup-2 35
  • 48 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5559 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8010 35
  • 57 (a)
OneToOne
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
rs2272722 - 123,019,301(+) ATTGA(C/T)TACCC intron-variant, reference, missense
rs1059588 -- 123,014,660(-) AAACC(A/G)TGGGG utr-variant-3-prime
rs2294086 -- 123,015,061(+) GGGAG(A/G)GAGGC utr-variant-3-prime
rs2294087 -- 123,041,535(+) AAAAA(C/T)TCCAT intron-variant
rs2385073 -- 123,042,602(-) TGAGT(A/G)AGCAG upstream-variant-2KB

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 B.N. … Ploegh H.L. (Nature 2004) 2 3 4 22 65
  2. Ubiquitin ligase Kf-1 is involved in the endoplasmic reticulum- associated degradation pathway. (PMID: 18675248) Maruyama Y. … Yamada M. (Biochem. Biophys. Res. Commun. 2008) 3 4 22 65
  3. The retrotranslocation protein derlin-1 binds peptide:N-glycanase to the endoplasmic reticulum. (PMID: 16055502) Katiyar S. … Lennarz W.J. (Mol. Biol. Cell 2005) 3 4 22 65
  4. Multiprotein complexes that link dislocation, ubiquitination, and extraction of misfolded proteins from the endoplasmic reticulum membrane. (PMID: 16186509) Lilley B.N. … Ploegh H.L. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 22 65
  5. The ubiquitin-domain protein HERP forms a complex with components of the endoplasmic reticulum associated degradation pathway. (PMID: 16289116) Schulze A. … Seeger M. (J. Mol. Biol. 2005) 3 4 22 65

Products for DERL1 Gene

Sources for DERL1 Gene

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