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CD1E Gene

protein-coding   GIFtS: 62
GCID: GC01P158323

CD1e Molecule

(Previous names: CD1E antigen, e polypeptide, CD1e antigen)
  See CD1E-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)
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Aliases
CD1e Molecule1 2     R22
CD1E Antigen, E Polypeptide1 2     Differentiation Antigen CD1-Alpha-32
CD1e Antigen1 3     Leukocyte Differentiation Antigen2
R2G12 3     T-Cell Surface Glycoprotein CD1e, Membrane-Associated2
hCD1e2 3     Thymocyte Antigen CD1E2
CD1A2     

External Ids:    HGNC: 16381   Entrez Gene: 9132   Ensembl: ENSG000001584887   OMIM: 1884115   UniProtKB: P158123   

Export aliases for CD1E gene to outside databases

Previous GC identifers: GC01P156115 GC01P154056 GC01P155101 GC01P155540 GC01P155136 GC01P156590 GC01P129681


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CD1E Gene:
This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the
major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins
mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The
human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are
thought to differ in their cellular localization and specificity for particular lipid ligands. The protein
encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable
soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that
can be presented by other CD1 family members. Many alternatively spliced transcript variants encoding different
isoforms have been described. Additional transcript variants have been found; however, their biological validity
has not been determined. (provided by RefSeq, Jun 2010)

GeneCards Summary for CD1E Gene:
CD1E (CD1e molecule) is a protein-coding gene. Diseases associated with CD1E include mycobacterium malmoense, and multifocal motor neuropathy. GO annotations related to this gene include endogenous lipid antigen binding and beta-2-microglobulin binding. An important paralog of this gene is CD1A.

UniProtKB/Swiss-Prot: CD1E_HUMAN, P15812
Function: T-cell surface glycoprotein CD1e, soluble binds diacetylated lipids, including phosphatidyl inositides
and diacylated sulfoglycolipids, and is required for the presentation of glycolipid antigens on the cell surface.
The membrane-associated form is not active

Gene Wiki entry for CD1E 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CD1E gene promoter:
         Bach1   SREBP-1c   MyoD   LCR-F1   E47   GATA-1   AREB6   CREB   deltaCREB   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD1E promoter sequence
   Search Chromatin IP Primers for CD1E

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CD1E


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

Entrez Gene cytogenetic band: 1q23.1   Ensembl cytogenetic band:  1q23.1   HGNC cytogenetic band: 1q23.1

CD1E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD1E gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P158323:  view genomic region     (about GC identifiers)

Start:
158,323,254 bp from pter      End:
158,327,343 bp from pter
Size:
4,090 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CD1E_HUMAN, P15812 (See protein sequence)
Recommended Name: T-cell surface glycoprotein CD1e, membrane-associated precursor  
Size: 388 amino acids; 43626 Da
Subunit: Heterodimer with B2M (beta-2-microglobulin). The association with B2M appears to be facilitated by the
presence of the propeptide
Sequence caution: Sequence=CAA33100.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for CD1E:
3S6C (3D)    
Secondary accessions: B4DZV3 E7EP01 Q5TDJ9 Q5TDK3 Q5TDK4 Q5TDK5 Q5TDK6 Q5TDK8 Q5TDL1 Q712E4
Q712E5 Q712E6 Q712E7 Q712E8 Q712E9 Q712F0 Q712F1 Q712F2 Q712F3 Q712F4 Q712F5 Q96TD0 Q96TD1
Q9UMM1 Q9Y5M3
Alternative splicing: 13 isoforms:  P15812-1   P15812-2   P15812-3   P15812-4   P15812-5   P15812-6   P15812-7   P15812-8   
P15812-9   P15812-10   P15812-11   P15812-12   P15812-13   

Explore the universe of human proteins at neXtProt for CD1E: NX_P15812

Explore proteomics data for CD1E at MOPED

Post-translational modifications: 

  • Mono-ubiquitinated1
  • Proteolytically cleaved in late endosomes to yield a soluble form1
  • Ubiquitination2 at Lys170, Lys179, Lys206, Lys208, Lys210, Lys358, Lys373
  • Glycosylation2 at Asn47, Asn84

  • See CD1E Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (13 alternative transcripts): 
    NP_001036048.1  NP_001036049.1  NP_001036050.1  NP_001036051.1  NP_001036052.1  NP_001172036.1  NP_001172037.1  NP_001172039.1  
    NP_001172041.1  NP_001172042.1  NP_001172043.1  NP_001172044.1  NP_112155.2  

    ENSEMBL proteins: 
     ENSP00000357149   ENSP00000416228   ENSP00000357147   ENSP00000357148   ENSP00000357145  
     ENSP00000357146   ENSP00000357139   ENSP00000357138   ENSP00000357137   ENSP00000357136  
     ENSP00000357142   ENSP00000357143   ENSP00000357144   ENSP00000401957   ENSP00000402906  

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for CD1E 

     
    antibodies-online peptides for CD1E

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    C1SET: Immunoglobulin superfamily / C1-set domain containing

    5 InterPro protein domains:
     IPR011162 MHC_I/II-like_Ag-recog
     IPR013783 Ig-like_fold
     IPR003597 Ig_C1-set
     IPR007110 Ig-like_dom
     IPR011161 MHC_I-like_Ag-recog

    Graphical View of Domain Structure for InterPro Entry P15812

    ProtoNet protein and cluster: P15812

    1 Blocks protein domain: IPB003597 Immunoglobulin C-type

    UniProtKB/Swiss-Prot: CD1E_HUMAN, P15812
    Similarity: Contains 1 Ig-like (immunoglobulin-like) domain


    Find genes that share domains with CD1E           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CD1E_HUMAN, P15812
    Function: T-cell surface glycoprotein CD1e, soluble binds diacetylated lipids, including phosphatidyl inositides
    and diacylated sulfoglycolipids, and is required for the presentation of glycolipid antigens on the cell surface.
    The membrane-associated form is not active

         Genatlas biochemistry entry for CD1E:
    cell differentiation antigen CD1E (see CD1@)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0030881beta-2-microglobulin binding IBA--
    GO:0030883endogenous lipid antigen binding IBA--
    GO:0030884exogenous lipid antigen binding IBA--
    GO:0071723lipopeptide binding IBA--
         
    Find genes that share ontologies with CD1E           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CD1E:
     Increased 8N DNA content 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CD1E

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    SwitchGear 3'UTR luciferase reporter plasmidCD1E 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for CD1E
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD1E

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD1E


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CD1E_HUMAN, P15812: T-cell surface glycoprotein CD1e, membrane-associated: Golgi apparatus membrane; Single-pass
    type I membrane protein. Early endosome. Late endosome. Note=Predominantly localized in the trans-Golgi network
    in immature dendritic cells, and as a cleaved, soluble protein in the lysosome lumen of mature dendritic cells
    CD1E_HUMAN, P15812: T-cell surface glycoprotein CD1e, soluble: Lysosome lumen
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    golgi apparatus5
    lysosome5
    plasma membrane5
    vacuole5
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005769early endosome IEA--
    GO:0005770late endosome IEA--
    GO:0005887integral component of plasma membrane NAS2467814
    GO:0016020membrane ----

    Find genes that share ontologies with CD1E           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CD1E About    
    See pathways by source

    SuperPathContained pathways About
    1Hematopoietic cell lineage
    Hematopoietic cell lineage


    Find genes that share SuperPaths with CD1E           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for CD1E):
        Hematopoietic cell lineage

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CD1E
    Interactions:

        GeneGlobe Interaction Network for CD1E

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for CD1E (P158123 ENSP000003571494) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    B2MP617693, ENSP000003408584I2D: score=1 STRING: ENSP00000340858
    IGKCENSP000003747774STRING: ENSP00000374777
    TRBV2ENSP000003885234STRING: ENSP00000388523
    IGHG2ENSP000003749874STRING: ENSP00000374987
    IGHG4ENSP000003749854STRING: ENSP00000374985
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response NAS2467814
    GO:0019882antigen processing and presentation ----
    GO:0048007antigen processing and presentation, exogenous lipid antigen via MHC class Ib IBA--

    Find genes that share ontologies with CD1E           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CD1E

    Selected HMDB Compounds for CD1E (see all 519)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Dehydrosphinganine1-Hydroxy-2-amino-3-oxo-octadecane (see all 9)16105-69-4--
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CD1E gene (13 alternative transcripts): 
    NM_001042583.2  NM_001042584.2  NM_001042585.2  NM_001042586.2  NM_001042587.2  NM_001185107.1  NM_001185108.1  NM_001185110.1  
    NM_001185112.1  NM_001185113.1  NM_001185114.1  NM_001185115.1  NM_030893.3  

    Unigene Cluster for CD1E:

    CD1e molecule
    Hs.249217  [show with all ESTs]
    Unigene Representative Sequence: NM_030893
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368167 ENST00000452291 ENST00000368165 ENST00000368166 ENST00000368163(uc001fry.3 uc001fsj.3)
    ENST00000368164 ENST00000368157 ENST00000368156 ENST00000368155 ENST00000368154
    ENST00000368160 ENST00000368161 ENST00000464822 ENST00000368162 ENST00000434258(uc010pid.2 uc010pie.2)
    ENST00000444681(uc001fsd.3 uc001frz.3 uc010pig.2 uc001fsc.3 uc001fsh.3 uc001fse.3 uc001fsf.3 uc001fsg.3 uc009wsv.3 uc001fsk.3 uc001fsa.3 uc021pbm.1 uc009wsw.3)

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    Additional mRNA sequence: 

    AJ289111.1 AJ289112.1 AJ289113.1 AJ289114.1 AJ289115.1 AJ289116.1 AJ289117.1 AJ289118.1 
    AJ289119.1 AJ289120.1 AJ289121.1 AJ289122.1 AK303088.1 AK303108.1 AK303217.1 AK303233.1 
    AK303542.1 AK310673.1 AK311643.1 BC131693.1 X79517.1 X79518.1 X79519.1 

    16 DOTS entries:

    DT.40228740  DT.427460  DT.100653437  DT.92419690  DT.95163686  DT.100653436  DT.100829160  DT.100863952 
    DT.92419691  DT.100653438  DT.100653439  DT.121426569  DT.40227468  DT.87046839  DT.121426560  DT.121426571 

    Selected AceView cDNA sequences (see all 63):

    CR598515 AJ289121 AJ289112 AJ289120 AJ289122 X79518 AJ289113 X79519 
    BM921563 X79517 BP368048 AJ289119 AJ289118 CR608653 CR611169 AJ289111 
    NM_030893 BX404845 AA311140 BM919793 BX447451 AA309511 AJ289117 BX406609 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CD1E (see all 13)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7
    SP1:                                            -     -                 -           -     -     -         
    SP2:                                            -     -                 -                       -         
    SP3:                                            -     -                 -                                 
    SP4:                                            -     -     -     -     -           -     -     -         
    SP5:                                            -     -     -     -     -                                 


    ECgene alternative splicing isoforms for CD1E

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CD1E expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CD1E Expression
    About this image


    CD1E expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Thymus (Hematopoietic System)    fully expand to see all 3 entries
             Double Negative 3 Thymocytes Thymus
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Double Negative 3 Thymocytes Thymus
    CD1E Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CD1E Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.249217

    UniProtKB/Swiss-Prot: CD1E_HUMAN, P15812
    Tissue specificity: Expressed on cortical thymocytes, dendritic cells, Langerhans cells, on certain T-cell
    leukemias, and in various other tissues

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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CD1E gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia CD1E1 CD1e molecule 73.23(n)
    66.04(a)
      488610  XM_005640914.1  XP_005640971.1 
    chicken
    (Gallus gallus)
    Aves CD1A16
    CD1.26
    Gallus gallus CD1b molecule (CD1B), mRNA.
    26(a)
    24(a)
    many ↔ many
    many ↔ many
    16(2102-4938)
    16(5769-8509)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    27(a)
    1 → many
    2(189404875-189415760)


    ENSEMBL Gene Tree for CD1E (if available)
    TreeFam Gene Tree for CD1E (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CD1E gene
    CD1A2  CD1D2  CD1B2  CD1C2  
    14 SIMAP similar genes for CD1E using alignment to 4 protein entries:     CD1E_HUMAN (see all proteins):
    CDIE    CD1b    CD1A    CD1C    CD1B    CD1D
    MICA    HLA-DRB1    HLA-B    HLA-DQB    HLA-DRB4    HFE
    HLA-A    HLA-C

    Find genes that share paralogs with CD1E           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    CD1E_HUMAN, P15812: Six alleles of CD1E are known. CD1E*01 has His-102/Gln-106/Ser-149/Arg-164/Leu-194, CD1E*02 has
    His-102/Arg-106/Ser-149/Arg-164/Leu-194, CD1E*03 (9L) has His-102/Gln-106/Ser-149/Trp-164/Leu-194, CD1E*04 (15L)
    has His-102/Gln-106/Ser-149/Arg-164/Pro-194, CD1E*05 has Arg-102/Arg-106/Ser-149/Arg-164/Leu-194 and CD1E*06 has
    His-102/Arg-106/Asn-149/Arg-164/Leu-194. The sequence shown is that of allele CD1E*01


    Selected SNPs for CD1E (see all 215)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs357527481,2
    C--158321565(+) AAAATA/CAATGT 13 -- us2k17Minor allele frequency- C:0.36NA WA CSA EA 365
    rs1850798941,2
    --158321574(+) GTAGAC/TATTCT 13 -- us2k10--------
    rs1899173981,2
    --158321605(+) TTTTTA/TAATCT 13 -- us2k10--------
    rs2016701671,2
    --158321690(+) TGCAG-/TTTTTT 13 -- us2k10--------
    rs1996257021,2
    --158321714(+) TTATT-/TTTA  
            
    TTTAT
    13 -- us2k10--------
    rs1820830771,2
    --158321769(+) TGTGCA/GCAACG 13 -- us2k10--------
    rs1471021101,2
    --158321806(+) GTGTCA/GTGTTG 13 -- us2k10--------
    rs1125492401,2
    F--158321816(+) GGTGTG/ACTGCA 13 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1868430281,2
    --158321847(+) ATTAGA/GTATAT 13 -- us2k10--------
    rs97297371,2
    C,A--158322083(+) gtattT/Ccatgg 13 -- us2k12Minor allele frequency- C:0.25NA 4

    HapMap Linkage Disequilibrium report for CD1E (158323254 - 158327343 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CD1E:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv393n71CNV Gain21882294
    nsv831692CNV Gain17160897

    Human Gene Mutation Database (HGMD): CD1E
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CD1E
    DNA2.0 Custom Variant and Variant Library Synthesis for CD1E

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 188411    OMIM disorders: --

    2 diseases for CD1E:    
    About MalaCards
    mycobacterium malmoense    multifocal motor neuropathy

    1 disease from the University of Copenhagen DISEASES database for CD1E:
    Demyelinating polyneuropathy

    Find genes that share disorders with CD1E           About GenesLikeMe

    Genetic Association Database (GAD): CD1E
    Human Genome Epidemiology (HuGE) Navigator: CD1E (6 documents)

    Export disorders for CD1E 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)
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    PubMed articles for CD1E gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with CD1E)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of CD1e, a third type of CD1 molecule expressed in dendritic cells. (PubMed id 10948205)1, 2, 3 Angenieux C.... de La Salle H. (J. Biol. Chem. 2000)
    2. A naturally occurring mutation in CD1e impairs lipid antigen presentation. (PubMed id 18325888)1, 2, 9 Tourne S....de la Salle H. (J. Immunol. 2008)
    3. Crystal structure of human CD1e reveals a groove suited for lipid- exchange processes. (PubMed id 21788486)1, 2 Garcia-Alles L.F.... de la Salle H. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    4. Association of CD1A +622 T/C, +737 G/C and CD1E +6129 A/G genes polymorphisms with multiple sclerosis. (PubMed id 20954848)1, 4 Jamshidian A....Kamali-Sarvestani E. (Immunol. Invest. 2010)
    5. The assembly of CD1e is controlled by an N-terminal propeptide which is processed in endosomal compartments. (PubMed id 19196239)1, 2 Maitre B.... de la Salle H. (Biochem. J. 2009)
    6. Control of the intracellular pathway of CD1e. (PubMed id 18208508)1, 2 Maitre B....de la Salle H. (Traffic 2008)
    7. Susceptibility to Guillain-BarrAc syndrome is not associated with CD1A and CD1E gene polymorphisms. (PubMed id 18838176)1, 4 Kuijf M.L....Jacobs B.C. (J. Neuroimmunol. 2008)
    8. Polymorphisms of CD1 genes in chronic dysimmune neuropathies. (PubMed id 17428545)1, 4 De Angelis M.V....Uncini A. (J. Neuroimmunol. 2007)
    9. Susceptibility to Guillain-BarrAc syndrome is associated to polymorphisms of CD1 genes. (PubMed id 16820217)1, 4 Caporale C.M....Uncini A. (J. Neuroimmunol. 2006)
    10. Assistance of microbial glycolipid antigen processing by CD1e. (PubMed id 16311334)1, 2 de la Salle H....De Libero G. (Science 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 913 HGNC: 1638 AceView: CD1E Ensembl:ENSG00000158488 euGenes: HUgn913
    ECgene: CD1E Kegg: 913 H-InvDB: CD1E

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CD1E Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CD1E gene:
    Search GeneIP for patents involving CD1E

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



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