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

DERL1 Gene

protein-coding   GIFtS: 54
GCID: GC08M124094

derlin 1

(Previous names: Der1-like domain family, member 1 )
 Explore 20 diseases affiliated with
DERL1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DERL1    

Aliases
for DERL1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Derlin 11 2     DERtrin-12 3
DER11 2 3     FLJ137841
DER-11 2     MGC30671
Der1-Like Domain Family, Member 11 2     PRO25771
Derlin-11     Der1-Like Protein 13
Degradation In Endoplasmic Reticulum Protein 12 3     

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


Summaries
for DERL1 gene

(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:
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)

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)


Genomic Views
for DERL1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008046.16  
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 plasmid: DERL1 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:
 124,025,458 bp from pter      End:
 124,054,663 bp from pter
Size:
 29,206 bases      Orientation:
 minus strand

Proteins
for DERL1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BUN8

    • DERL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000259512   ENSP00000384289   ENSP00000389965   ENSP00000430086   ENSP00000429199  

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    Novus Biologicals DERL1 Proteins
    Novus Biologicals DERL1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for DERL1

    Protein Domains /
    Families
    for DERL1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DERL1 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for DERL1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Induction: Up-regulated in response to endoplasmic reticulum stress via the ERN1-XBP1 pathway of the unfolded protein
    response (UPR) (By similarity)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DERL1
    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
    SwitchGear 3'UTR luciferase reporter plasmid: DERL1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: DERL1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DERL1

    Gene Editing
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    Clone
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    In Situ Assay
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    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 IPI18555783
    GO:0042288MHC class I protein binding IDA15215855


    DERL1 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for DERL1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of degradation of wt-CFTR
    		Regulation of degradation of wt-CFTR1.00
    		Regulation of degradation of deltaF508 CFTR in CF0.59
    2Protein Stability
    		Protein Stability1.00
    3Protein processing in endoplasmic reticulum
    		Protein processing in endoplasmic reticulum1.00
    4Translational Control
    		Translational Control1.00
    5Pathogenesis of ALS
    		Amyotrophic lateral sclerosis (ALS)0.30

    Pathway sources
    See GeneCards unified pathways
    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)

    5/34 Interacting proteins for DERL1 (Q9BUN81, 3 ENSP000002595124) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFTRP135691, 3, ENSP000000030844EBI-398977,EBI-349854 I2D: score=2 STRING: ENSP00000003084
    HLA-AP304433, ENSP000003660054I2D: score=1 I2D: score=1 STRING: ENSP00000366005
    BCAP31P515721, 3, ENSP000003923304EBI-398977,EBI-77683 I2D: score=1 STRING: ENSP00000392330
    SNX2O607493, ENSP000003688314I2D: score=5 STRING: ENSP00000368831
    VCPP550723, ENSP000003517774I2D: score=3 STRING: ENSP00000351777
    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



    Drugs & Compounds
    for DERL1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DERL1
    Search CenterWatch for drugs/clinical trials and news about DERL1 

    Transcripts
    for DERL1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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

    miRNA
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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
    SwitchGear 3'UTR luciferase reporter plasmid: DERL1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DERL1 (see all 7)
    OriGene shRNA RFP: DERL1
    OriGene siRNA: DERL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DERL1
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): DERL1 (NM_024295)
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    Primer
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    Additional cDNA 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.101956606  DT.97821362  DT.92009072 
    DT.121483228  DT.121483235  DT.121483238  DT.121483256  DT.95153914 

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

    AW590320 T32762 CA436843 AI796095 BQ772143 CA488241 CF272440 CR610166 
    BI766851 AW590813 AA279207 AI309246 BQ006679 BG260555 AI917503 BQ921602 
    AU140976 CF551865 BM985024 CB107716 BE378720 BC050691 N35562 BG168361 

    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

    Expression
    for DERL1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACAGTGGATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DERL1

    Orthologs
    for DERL1 gene

    (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 eukaryotes.

    Orthologs for DERL1 gene from 9/29 species (see all 29)    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
    		 --
    		 91(a)
    		 1 ↔ 1
    		 GL343581.1(384589-402068)
    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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons DER16
    		 derlin-1
    		 26(a)
    		 1 ↔ 1
    		 4(14444819-14447115)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 Der1-like family domain containing protein, expres...
    		 27(a)
    		 1 ↔ 1
    		 5(5394314-5398119)


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

    Paralogs
    for DERL1 gene

    (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



    Genomic Variants
    for DERL1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/514 NCBI SNPs in DERL1 are shown (see all 514)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs756102131,2
    		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
    		--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 (124025458 - 124054663 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DERL1: --

    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing DERL1:
    Ovarian Cancer
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DERL1
    DNA2.0 Custom Variant and Variant Library Synthesis for DERL1

    Disorders / Diseases
    for DERL1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DERL1 for disorders           About GeneDecksing

    OMIM gene information: 608813    OMIM disorders: --

    20 diseases for DERL1:    About MalaCards
    cystic fibrosis    fibrosis    ceroid lipofuscinosis    neuronal ceroid-lipofuscinosis
    amyotrophic lateral sclerosis (als)    sick building syndrome    amyotrophic lateral sclerosis    secretory diarrhea
    lateral sclerosis    cavernous hemangioma    alzheimer's disease    hemangioma
    diarrhea    cholera    breast carcinoma    neuronitis
    adenocarcinoma    carcinoma    hepatitis    malaria

    1 Novoseek 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

    Publications
    for DERL1 gene

    (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 71):
    (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)

    External Searches for DERL1 gene

    (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)

    Genome Databases showing DERL1 gene

    (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

    Other Databases showing DERL1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DERL1 gene

    (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

    Intellectual Property
    for DERL1 gene

    (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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