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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DERL1 Gene

protein-coding   GIFtS: 56
GCID: GC08M124094

Derlin 1

(Previous names: Der1-like domain family, member 1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Derlin 11 2     DERtrin-12 3
Der1-Like Domain Family, Member 11 2     DER-12
Degradation In Endoplasmic Reticulum Protein 12 3     derlin-12
DER12 3     Der1-Like Protein 13

External Ids:    HGNC: 284541   Entrez Gene: 791392   Ensembl: ENSG000001369867   OMIM: 6088135   UniProtKB: Q9BUN83   

Export aliases for DERL1 gene to outside databases

Previous GC identifer: GC08M119351


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 sick building syndrome, and cavernous hemangioma, and among its related super-pathways are Regulation of degradation of deltaF508 CFTR in CF and Pathogenesis of ALS. GO annotations related to this gene include MHC class I protein binding and receptor activity. An important paralog of this gene is DERL2.

UniProtKB/Swiss-Prot: DERL1_HUMAN, Q9BUN8
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

Gene Wiki entry for DERL1 (Derlin-1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DERL1 gene promoter:
         Bach1   STAT5A   AP-2gamma   NF-kappaB   Max   AP-2beta   NF-kappaB1   AP-2alpha   c-Myc   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDERL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DERL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DERL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q24.13   Ensembl cytogenetic band:  8q24.13   HGNC cytogenetic band: 8q24.13

DERL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DERL1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M124094:  view genomic region     (about GC identifiers)

Start:
124,025,404 bp from pter      End:
124,054,663 bp from pter
Size:
29,260 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DERL1_HUMAN, Q9BUN8 (See protein sequence)
Recommended Name: Derlin-1  
Size: 251 amino acids; 28801 Da
Subunit: 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, 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 RNF103
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: B3KW41 E9PH19
Alternative splicing: 2 isoforms:  Q9BUN8-1   Q9BUN8-2   

Explore the universe of human proteins at neXtProt for DERL1: NX_Q9BUN8

Explore proteomics data for DERL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BUN8

  • DERL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DERL1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001128143.1  NP_077271.1  

    ENSEMBL proteins: 
     ENSP00000259512   ENSP00000384289   ENSP00000389965   ENSP00000430086   ENSP00000429199  

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    Cloud-Clone Corp. Proteins for DERL1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005769early endosome IEA--
    GO:0005770late endosome IEA--
    GO:0005783endoplasmic reticulum IMP16449189
    GO:0016021integral to membrane IDA15215855
    GO:0030176integral to endoplasmic reticulum membrane IDA15215856

    DERL1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007599 DER1

    Graphical View of Domain Structure for InterPro Entry Q9BUN8

    ProtoNet protein and cluster: Q9BUN8

    UniProtKB/Swiss-Prot: DERL1_HUMAN, Q9BUN8
    Similarity: Belongs to the derlin family


    DERL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DERL1_HUMAN, Q9BUN8
    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
    Induction: Up-regulated in response to endoplasmic reticulum stress via the ERN1-XBP1 pathway of the unfolded
    protein response (UPR) (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity NAS15215856
    GO:0005515protein binding IPI15215856
    GO:0042288MHC class I protein binding IDA15215855
         
    DERL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DERL1:
     Increased gamma-H2AX phosphory 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidDERL1 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DERL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of degradation of wt-CFTR
    Regulation of degradation of deltaF508 CFTR in CF0.59
    Regulation of degradation of wt-CFTR0.59
    2Pathogenesis of ALS
    Amyotrophic lateral sclerosis (ALS)0.31
    3Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum
    4Protein Stability
    Protein Stability
    5Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for DERL1
        Translational Control
    Protein Stability

    2 GeneGo (Thomson Reuters) Pathways for DERL1
        Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt-CFTR


    2         Kegg Pathways  (Kegg details for DERL1):
        Protein processing in endoplasmic reticulum
    Amyotrophic lateral sclerosis (ALS)


    DERL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DERL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/42 Interacting proteins for DERL1 (Q9BUN81, 3 ENSP000002595124) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFTRP135691, 3, ENSP000000030844EBI-398977,EBI-349854 I2D: score=2 STRING: ENSP00000003084
    ENSG00000183574Q999423I2D: score=1 
    ENSG00000223767Q999423I2D: score=1 
    ENSG00000225452Q999423I2D: score=1 
    ENSG00000227277Q999423I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006986response to unfolded protein IMP15215855
    GO:0019060intracellular transport of viral proteins in host cell TAS15215856
    GO:0030433ER-associated protein catabolic process IDA15215856
    GO:0030968endoplasmic reticulum unfolded protein response IDA15215856
    GO:0030970retrograde protein transport, ER to cytosol IMP15215855

    DERL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for DERL1 gene (2 alternative transcripts): 
    NM_001134671.2  NM_024295.5  

    Unigene Cluster for DERL1:

    Derlin 1
    Hs.241576  [show with all ESTs]
    Unigene Representative Sequence: NM_024295
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000259512(uc003ypl.2 uc003ypm.2 uc011lif.1) ENST00000524119(uc003ypn.2)
    ENST00000405944 ENST00000419562 ENST00000519018 ENST00000523036
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate DERL1 (see all 25):
    hsa-miR-4311 hsa-miR-520d-5p hsa-miR-181c hsa-miR-1224-3p hsa-miR-1323 hsa-miR-375 hsa-miR-2116 hsa-miR-580
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    Additional mRNA sequence: 

    AF131854.1 AK124086.1 AK303826.1 AK313675.1 AY358818.1 BC002457.2 BC037174.1 BC050691.1 

    13 DOTS entries:

    DT.101983892  DT.101960551  DT.75167554  DT.447123  DT.101983893  DT.97821362  DT.101956606  DT.92009072 
    DT.121483228  DT.121483235  DT.121483238  DT.121483256  DT.95153914 

    24/347 AceView cDNA sequences (see all 347):

    CF272440 CN482020 BC050691 N35562 T34562 CA436843 AI239703 T31952 
    AI825065 BC002457 AA279207 BG260555 BG168361 AW273433 BQ921602 AI696080 
    AA954498 BM985024 CR610166 AI967978 BE378720 BQ222388 T32762 BQ632856 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for DERL1    About this scheme

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


    ECgene alternative splicing isoforms for DERL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DERL1 expression in normal human tissues (normalized intensities)      DERL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAGTGGATT
    DERL1 Expression
    About this image


    DERL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/32 selected tissues (see all 32) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             bone marrow cd34+   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   

    See DERL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DERL1

    SOURCE GeneReport for Unigene cluster: Hs.241576

    UniProtKB/Swiss-Prot: DERL1_HUMAN, Q9BUN8
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Arrays including DERL1: 
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DERL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for DERL1 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Derl11 , 5 Der1-like domain family, member 11, 5 92.16(n)1
    97.61(a)1
      15 (24.06 cM)5
    678191  NM_024207.41  NP_077169.11 
     578695025 
    chicken
    (Gallus gallus)
    Aves DERL11 Der1-like domain family, member 1 82.07(n)
    91.24(a)
      420350  NM_001006350.1  NP_001006350.1 
    lizard
    (Anolis carolinensis)
    Reptilia DERL16
    Uncharacterized protein
    92(a)
    1 ↔ 1
    GL343581.1(383539-406924)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.80762 Xenopus laevis transcribed sequence with moderate similarity more 78.36(n)    BX845413.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.19202 Danio rerio mRNA similar to hypothetical protein MGC3 more 75.32(n)    BC045413.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Der-11 Derlin-1 49.86(n)
    43.8(a)
      33369  NM_134788.3  NP_608632.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cup-21 Protein CUP-2 56.67(n)
    49.58(a)
      172915  NM_060320.5  NP_492721.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DFM16
    Endoplasmic reticulum (ER) localized protein invol...
    18(a)
    1 → many
    IV(1293369-1294394)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DERL1 gene
    DERL22  DERL32  
    2 SIMAP similar genes for DERL1 using alignment to 4 protein entries:     DERL1_HUMAN (see all proteins):
    DERL3    DERL2

    DERL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/618 SNPs in DERL1 are shown (see all 618)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs756102131,2
    C,F--124024911(+) TCAAAG/TGTTAG 2 -- ds50011Minor allele frequency- T:0.12WA 118
    rs168978711,2
    C,F,H--124024912(+) CAAAGC/GTTAGT 2 -- ds500116Minor allele frequency- N:0.00NA NS EA CSA WA 1416
    rs1461957701,2
    --124024921(+) GTTATG/TCAGAG 2 -- ds50010--------
    rs773017361,2
    --124025091(+) TAAGCA/GGGATC 2 -- ds50010--------
    rs590692751,2
    F--124025248(+) AAAAAG/AGGGCT 2 -- ds50011Minor allele frequency- A:0.00NA 2
    rs1441638481,2
    --124025275(+) CCTGCA/TATCTA 2 -- ds50010--------
    rs1822780221,2
    --124025276(+) CTGCTA/GTCTAG 2 -- ds50010--------
    rs1465120811,2
    --124025318(+) AACTAA/CTTTTA 2 -- ds50010--------
    rs132659631,2
    C,F,H--124025343(+) TCAGAT/CCCATG 2 -- ds500113Minor allele frequency- C:0.37NA NS EA WA 902
    rs1868912101,2
    --124025368(+) AAATGC/TCATAA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for DERL1 (124025404 - 124054663 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for DERL1: --
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing DERL1:
    Ovarian Cancer
    SeqTarget long-range PCR primers for resequencing DERL1
    DNA2.0 Custom Variant and Variant Library Synthesis for DERL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608813    OMIM disorders: --

    15 diseases for DERL1:    About MalaCards
    sick building syndrome    cavernous hemangioma    secretory diarrhea    cystic fibrosis
    diarrhea    neuronal ceroid lipofuscinosis    hemangioma    amyotrophic lateral sclerosis
    lateral sclerosis    alzheimer's disease    cholera    endotheliitis
    neuronitis    adenocarcinoma    hepatitis


    DERL1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for DERL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystic fibrosis 14.7 1 16954204 (1)


    Export disorders for DERL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DERL1 gene, integrated from 9 sources (see all 75):
    (articles sorted by number of sources associating them with DERL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A membrane protein required for dislocation of misfolded proteins from the ER. (PubMed id 15215855)1, 2, 3, 9 Lilley B.N. and Ploegh H.L. (2004)
    2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (2003)
    3. Multiprotein complexes that link dislocation, ubiquitination, and extraction of misfolded proteins from the endoplasmic reticulum membrane. (PubMed id 16186509)1, 2, 9 Lilley B.N. and Ploegh H.L. (2005)
    4. The ubiquitin-domain protein HERP forms a complex with components of the endoplasmic reticulum associated degradation pathway. (PubMed id 16289116)1, 2, 9 Schulze A.... Seeger M. (2005)
    5. The retrotranslocation protein derlin-1 binds peptide:N-glycanase to the endoplasmic reticulum. (PubMed id 16055502)1, 2, 9 Katiyar S.... Lennarz W.J. (2005)
    6. Ubiquitin ligase Kf-1 is involved in the endoplasmic reticulum-associated degradation pathway. (PubMed id 18675248)1, 2, 9 Maruyama Y....Yamada M. (2008)
    7. The otubain YOD1 is a deubiquitinating enzyme that associates with p97 to facilitate protein dislocation from the ER. (PubMed id 19818707)1, 2 Ernst R.... Schlieker C. (2009)
    8. Derlin-2 and Derlin-3 are regulated by the mammalian unfolded protein response and are required for ER-associated degradation. (PubMed id 16449189)1, 2 Oda Y.... Mori K. (2006)
    9. Recruitment of the p97 ATPase and ubiquitin ligases to the site of retrotranslocation at the endoplasmic reticulum membrane. (PubMed id 16186510)1, 2 Ye Y....Rapoport T.A. (2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79139 HGNC: 28454 AceView: DER1 Ensembl:ENSG00000136986 euGenes: HUgn79139
    ECgene: DERL1 Kegg: 79139 H-InvDB: DERL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DERL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DERL1 gene:
    Search GeneIP for patents involving DERL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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