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

SEL1L Gene

protein-coding   GIFtS: 66
GCID: GC14M081937

sel-1 suppressor of lin-12-like (C. elegans)

(Previous names: sel-1 (suppressor of lin-12, C.elegans)-like )
 Explore 26 diseases affiliated with
SEL1L via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SEL1L    

Aliases
for SEL1L gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Sel-1 Suppressor Of Lin-12-Like (C. Elegans)1 2     SEL1-LIKE2
SEL1L11 2     Protein Sel-1 Homolog 12
Suppressor Of Lin-12-Like Protein 12 3     Sel-1 Suppressor Of Lin-12-Like 12
IBD21     Suppressor Of Lin 12 (Sel-1), C. Elegans, Homolog Of2
Sel-1 (Suppressor Of Lin-12, C.Elegans)-Like1     Sel-1L3
PRO10632     TSA3053

External Ids:    HGNC: 107171   Entrez Gene: 64002   Ensembl: ENSG000000715377   OMIM: 6023295   UniProtKB: Q9UBV23   

Export aliases for SEL1L gene to outside databases

Previous GC identifers: GC14M079443 GC14M075754 GC14M079927 GC14M081007 GC14M062108


Summaries
for SEL1L 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 SEL1L:
The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of
misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a
ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for
this gene. (provided by RefSeq, Oct 2011)

UniProtKB/Swiss-Prot: SE1L1_HUMAN, Q9UBV2
Function: May play a role in Notch signaling (By similarity). May be involved in the endoplasmic reticulum quality
control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of
misfolded endoplasmic reticulum proteins

Gene Wiki entry for SEL1L


Genomic Views
for SEL1L 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_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SEL1L gene promoter:
         FOXF2   Nkx2-2   LCR-F1   AREB6   CBF-A   E2F   E2F-1   CBF-B   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SEL1L promoter sequence
   Search SABiosciences Chromatin IP Primers for SEL1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEL1L


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

Entrez Gene cytogenetic band: 14q31   Ensembl cytogenetic band:  14q31.1   HGNC cytogenetic band: 14q31

SEL1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEL1L gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M081937:  view genomic region     (about GC identifiers)

Start:
 81,937,893 bp from pter      End:
 82,000,205 bp from pter
Size:
 62,313 bases      Orientation:
 minus strand

Proteins
for SEL1L 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: SE1L1_HUMAN, Q9UBV2 (See protein sequence)
Recommended Name: Protein sel-1 homolog 1 precursor  
Size: 794 amino acids; 88755 Da
Subunit: Part of a complex containing SEL1L, SYVN1 and DERL2. May form a complex with ERLEC1, HSPA5, OS9, and SYVN1.
Interacts with FOXRED2 and EDEM1
Subcellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein
Secondary accessions: Q6UWT6 Q9P1T9 Q9UHK7
Alternative splicing: 2 isoforms:  Q9UBV2-1   Q9UBV2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEL1L: NX_Q9UBV2

Post-translational modifications:

  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UBV2

    • SEL1L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001231913.1  NP_005056.3  

    ENSEMBL proteins: 
     ENSP00000337053   ENSP00000450709   ENSP00000451144  

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    Uscn Proteins for SEL1L

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane NAS--


    SEL1L for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SEL1L gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SEL1L for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011990 TPR-like_helical
     IPR013806 Kringle-like
     IPR000562 FN_type2_col-bd
     IPR006597 Sel1-like

    Graphical View of Domain Structure for InterPro Entry Q9UBV2

    ProtoNet protein and cluster: Q9UBV2

    2 Blocks protein families:
    IPB000562 Type II fibronectin collagen-binding domain
    IPB006597 Sel1-like repeat


    UniProtKB/Swiss-Prot: SE1L1_HUMAN, Q9UBV2
    Similarity: Belongs to the sel-1 family
    Similarity: Contains 1 fibronectin type-II domain
    Similarity: Contains 11 Sel1-like repeats


    Function
    for SEL1L 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: SE1L1_HUMAN, Q9UBV2
    Function: May play a role in Notch signaling (By similarity). May be involved in the endoplasmic reticulum quality
    control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of
    misfolded endoplasmic reticulum proteins

         Genatlas biochemistry entry for SEL1L:
    sel-1 (suppressor of lin-12,C elegans)-like,negative regulator of the NOTCH pathway, specifically expressed in pancreas

    miRNA
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    hsa-mir-125b (MIRT005008)

    OriGene 3'-UTR Clone: SEL1L
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEL1L
    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate SEL1L (see all 49):
    hsa-miR-140-5p hsa-miR-2052 hsa-miR-4254 hsa-miR-607 hsa-miR-188-5p hsa-miR-4272 hsa-miR-650 hsa-miR-105
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SEL1L (see all 7)
    OriGene shRNA RFP: SEL1L
    OriGene siRNA: SEL1L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SEL1L

    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for SEL1L

    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18502753


    SEL1L for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for SEL1L:
     Decreased number of cells in m  Synthetic lethal with c-Myc af  Synthetic lethal with imatinib 

    Animal Models:
         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Sel1l):
     cellular  endocrine/exocrine gland  liver/biliary system  mortality/aging 

    SEL1L for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SEL1L 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
    1Protein processing in endoplasmic reticulum
    		Protein processing in endoplasmic reticulum1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for SEL1L):
        Protein processing in endoplasmic reticulum


    SEL1L for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SEL1L

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

    5/61 Interacting proteins for SEL1L (Q9UBV22, 3 ENSP000003370534) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFRSF1AP194382, 3, ENSP000001627494MINT-49296 I2D: score=2 STRING: ENSP00000162749
    ERN1O754603, ENSP000004014454I2D: score=1 STRING: ENSP00000401445
    RPN1P048433, ENSP000002962554I2D: score=1 STRING: ENSP00000296255
    UNC93B1Q9H1C43, ENSP000002274714I2D: score=1 STRING: ENSP00000227471
    SYVN1Q86TM63, ENSP000003663954I2D: score=1 STRING: ENSP00000366395
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007219Notch signaling pathway IEA--
    GO:0034976response to endoplasmic reticulum stress IEA--


    SEL1L for ontologies           About GeneDecksing



    Drugs & Compounds
    for SEL1L 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 SEL1L
    Search CenterWatch for drugs/clinical trials and news about SEL1L / SE1L1 

    Transcripts
    for SEL1L 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 SEL1L gene (2 alternative transcripts): 
    NM_001244984.1  NM_005065.5  

    Unigene Cluster for SEL1L:

    Sel-1 suppressor of lin-12-like (C. elegans)
    Hs.181300  [show with all ESTs]
    Unigene Representative Sequence: NM_005065
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000336735(uc010tvv.2) ENST00000554293 ENST00000555923 ENST00000554744
    ENST00000555824(uc001xvo.4) ENST00000557372

    miRNA
    Products:             		 OriGene 3'-UTR Clone: SEL1L
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEL1L
    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate SEL1L (see all 49):
    hsa-miR-140-5p hsa-miR-2052 hsa-miR-4254 hsa-miR-607 hsa-miR-188-5p hsa-miR-4272 hsa-miR-650 hsa-miR-105
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SEL1L (see all 7)
    OriGene shRNA RFP: SEL1L
    OriGene siRNA: SEL1L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SEL1L
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SEL1L
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEL1L

    Additional cDNA sequence: 

    AB020335.1 AF052059.1 AK075511.1 AK130629.1 AY358651.1 BC040498.1 BC054336.1 U11037.1 

    16 DOTS entries:

    DT.441809  DT.91767327  DT.100792905  DT.97864187  DT.100688206  DT.91790115  DT.100680503  DT.120788936 
    DT.120788947  DT.40189743  DT.101970317  DT.120788954  DT.120788955  DT.120788964  DT.95358021  DT.97797315 

    24/298 AceView cDNA sequences (see all 298):

    CR613747 BQ878580 BX498096 CA312030 AA040516 BU184503 AA564969 AI744602 
    BC054336 AI927770 AW239339 BM931703 AW264083 AA931443 CA443069 AW769404 
    BU155815 AL046817 BE220218 AW272445 BF435792 BM699970 BM550406 BU073280 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SEL1L (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a ·
    SP1:                                                        -                             -                 -                             -     -               
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:              -                                                                                                                                             
    SP5:                                                                                                                                                            

    ExUns: 19b ^ 20
    SP1:  -         
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for SEL1L

    Expression
    for SEL1L 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

    SEL1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTAGACTCTT

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

    SEL1L expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyS-shaped BodyKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SEL1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEL1L

    SOURCE GeneReport for Unigene cluster: Hs.181300

    UniProtKB/Swiss-Prot: SE1L1_HUMAN, Q9UBV2
    Tissue specificity: Highly expressed in pancreas

        SABiosciences Expression via Pathway-Focused PCR Arrays including SEL1L: 
              Notch Signaling Pathway in human mouse rat
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for SEL1L 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 last universal common ancestor (LUCA).

    Orthologs for SEL1L gene from 9/32 species (see all 32)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SEL1L1 sel-1 suppressor of lin-12-like (C. elegans) 78.36(n)
    84.69(a)    		   423391  XM_421303.3  XP_421303.2 
    lizard
    (Anolis carolinensis)    		 Reptilia SEL1L6
    		 --
    		 81(a)
    		 1 ↔ 1
    		 1(17749234-17770479)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.14422 Xenopus laevis transcribed sequence with moderate similarity more 79.77(n)    CA988511.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.154922 Transcribed sequence with moderate similarity to protein more 79.57(n)    57044715 
    fruit fly
    (Drosophila melanogaster)    		 Insecta BcDNA:LD235873
    Hrd31    		 CG10221-PA1 51(a)3
    56.66(n)1
    53.36(a)1    		   95B13
    428061  NM_142922.21  NP_651179.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea sel-11 , 3 Yeast hypothetical gene L8167.5 like3
    Protein SEL-11    		 46(a)3
    53.98(n)1
    48.12(a)1    		   V(12563329-12565654)3
    1797201  NM_073743.41  NP_506144.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G735706
    AT1G182606
    		 Hr.3 like protein
    		 28(a)
    28(a)
    		 many ↔ many
    many ↔ many
    		 1(27650992-27653942)
    1(6278848-6282103)
    rice
    (Oryza sativa)    		 Liliopsida Os.473192 Oryza sativa (japonica cultivar-group) cDNA clone0 more 79.77(n)    AK063394.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria ybeT6
    ybeQ6
    		 conserved protein
    		 26(a)
    15(a)
    		 many ↔ many
    many ↔ many
    		 Chromosome(678075-678629)
    Chromosome(674793-675770)


    ENSEMBL Gene Tree for SEL1L (if available)
    TreeFam Gene Tree for SEL1L (if available) 

    Paralogs
    for SEL1L gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SEL1L gene
    SEL1L32  SEL1L22  
    1 SIMAP similar gene for SEL1L using alignment to 5 protein entries:     SE1L1_HUMAN (see all proteins):
    SEL1L2

    SEL1L for paralogs           About GeneDecksing



    Genomic Variants
    for SEL1L 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

    10/1128 NCBI SNPs in SEL1L are shown (see all 1128)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs560171881,2
    		C,--62106758(+) CAAGAT/ACAGAG 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs118463371,2
    		C,H,--62106823(+) ATTTTC/TGAAGT 1 -- ds50015Minor allele frequency- T:0.04NS EA NA WA 418
    rs71524481,2
    		C,F,H,--62106951(+) GAAACC/TGGATT 1 -- ds500111Minor allele frequency- T:0.03NS EA NA WA 1306
    rs413108521,2
    		--62107044(+) TGTGGC/TTTTTA 1 -- ut310--------
    rs178474531,2
    		C,--62107221(-) TCAAAC/TTGAAC 1 -- ut310--------
    rs413173121,2
    		C,F,--62107770(+) NNNNCC/TAAGAT 1 -- ut311Minor allele frequency- T:0.05NA 120
    rs413145271,2
    		C,F,--62107910(+) NNNNCA/TTTTCT 1 -- ut311Minor allele frequency- T:0.03NA 120
    rs118475841,2
    		C,F,H,--62108011(+) ATAAAC/TAAACT 1 -- ut3116Minor allele frequency- T:0.08NS EA NA WA 1844
    rs101420091,2
    		H--62108693(+) GAATCC/TTTTTC 1 -- ut31 ese34Minor allele frequency- T:0.00NS EA 416
    rs768273441,2
    		C,F,--62108866(+) GTGTTA/GTATTT 1 -- ut311Minor allele frequency- G:0.13WA 118

    HapMap Linkage Disequilibrium report for SEL1L (81937893 - 82000205 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SEL1L: --
    Human Gene Mutation Database (HGMD): SEL1L

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SEL1L
    DNA2.0 Custom Variant and Variant Library Synthesis for SEL1L

    Disorders / Diseases
    for SEL1L 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
    SEL1L for disorders           About GeneDecksing

    OMIM gene information: 602329    OMIM disorders: --

    20/26 diseases for SEL1L (see all 26):    About MalaCards
    persistent hyperinsulinemic hypoglycemia of infancy    ceroid lipofuscinosis    neuronal ceroid-lipofuscinosis    hyperinsulinemic hypoglycemia
    hypoglycemia of infancy    hypoglycemia    diabetes mellitus    pancreatic ductal carcinoma
    ulcerative colitis    squamous cell carcinoma    autoimmune thyroiditis    pancreatic cancer
    pancreatitis    carcinoma    esophageal cancer    alzheimer's disease
    esophagitis    gastric cancer    thyroiditis    lung cancer

    1 disease from the University of Copenhagen DISEASES database for SEL1L:
    Inflammatory bowel disease

    10 Novoseek disease relationships for SEL1L gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aggressive behavior 36.9 2 16331889 (1), 14729273 (1)
    pancreatic cancer 33.5 5 16331889 (2), 10763137 (1), 15355917 (1)
    graves disease 33 2 12030374 (1)
    aggressiveness 32.6 3 11809711 (2), 16331677 (1)
    breast carcinoma 30.5 7 11809711 (3), 15880780 (2), 14729273 (1)
    diabetes mellitus insulin-dependent 22 2 11544613 (2)
    carcinoma squamous cell 16.1 3 17822620 (2), 15355917 (1)
    adenocarcinoma 13.6 2 9417916 (1), 16623793 (1)
    tumors 3.27 23 17822620 (6), 11809711 (3), 16647946 (2), 16331677 (2) (see all 7)
    cancer 0 4 15355917 (3), 16331677 (1)

    Genetic Association Database (GAD): SEL1L
    Human Genome Epidemiology (HuGE) Navigator: SEL1L (5 documents)

    Export disorders for SEL1L gene to outside databases

    Publications
    for SEL1L 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 SEL1L gene, integrated from 9 sources (see all 63):
    (articles sorted by number of sources associating them with SEL1L)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. No evidence for SEL1L as a candidate gene for IDDM11-conferred susceptibility. (PubMed id 11544613)1, 4, 9 Pociot F....Cucca F. (2001)
    2. SEL1L a multifaceted protein playing a role in tumor progression. (PubMed id 16331677)1, 3, 9 Biunno I....Menard S. (2006)
    3. SEL1L microsatellite polymorphism in Japanese patients with autoimmune thyroid diseases. (PubMed id 11349831)1, 4, 9 Ban Y....Ban Y. (2001)
    4. Allele frequency of two intragenic microsatellite loci of SEL1L gene in Northern Italian population. (PubMed id 12030374)1, 4, 9 Chiaramonte R....Sherbet G.V. (2002)
    5. Complete cDNA sequence and genomic organization of a human pancreas- specific gene homologous to Caenorhabditis elegans sel-1. (PubMed id 10496078)1, 2, 9 Harada Y.... Tanigami A. (1999)
    6. OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD. (PubMed id 18264092)1, 2, 9 Christianson J.C.... Kopito R.R. (2008)
    7. SEL1L, the human homolog of C. elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers. (PubMed id 10746565)1, 2, 9 Biunno I.... Zollo M. (2000)
    8. Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas. (PubMed id 9417916)1, 3, 9 Biunno I.... Sgaramella V. (1997)
    9. A luminal flavoprotein in endoplasmic reticulum-associated degradation. (PubMed id 19706418)1, 2 Riemer J.... Ellgaard L. (2009)
    10. EDEM1 recognition and delivery of misfolded proteins to the SEL1L- containing ERAD complex. (PubMed id 19524542)1, 2 Cormier J.H.... Hebert D.N. (2009)

    External Searches for SEL1L 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 SEL1L gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6400 HGNC: 10717 AceView: SEL1L Ensembl:ENSG00000071537 euGenes: HUgn6400
    ECgene: SEL1L Kegg: 6400 H-InvDB: SEL1L

    Other Databases showing SEL1L gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SEL1L 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 SEL1L Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SEL1L Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for SEL1L gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SEL1L gene:
    Search GeneIP for patents involving SEL1L

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



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    About This Section

     
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