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Aliases for CD1E Gene

Aliases for CD1E Gene

  • CD1e Molecule 2 3 5
  • CD1E Antigen, E Polypeptide 2 3
  • CD1e Antigen 2 4
  • HCD1e 3 4
  • R2G1 3 4
  • Differentiation Antigen CD1-Alpha-3 3
  • Leukocyte Differentiation Antigen 3
  • Thymocyte Antigen CD1E 3
  • CD1A 3
  • R2 3

External Ids for CD1E Gene

Previous GeneCards Identifiers for CD1E Gene

  • GC01P156115
  • GC01P154056
  • GC01P155101
  • GC01P155540
  • GC01P155136
  • GC01P156590
  • GC01P129681

Summaries for CD1E Gene

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. Among its related pathways are Immune System and Dendritic Cells Developmental Lineage Pathway. GO annotations related to this gene include lipid binding and lipopeptide binding. An important paralog of this gene is CD1C.

UniProtKB/Swiss-Prot for CD1E Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD1E Gene

Genomics for CD1E Gene

Regulatory Elements for CD1E Gene

Genomic Location for CD1E Gene

Chromosome:
1
Start:
158,353,435 bp from pter
End:
158,357,553 bp from pter
Size:
4,119 bases
Orientation:
Plus strand

Genomic View for CD1E Gene

Genes around CD1E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD1E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD1E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD1E Gene

Proteins for CD1E Gene

  • Protein details for CD1E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15812-CD1E_HUMAN
    Recommended name:
    T-cell surface glycoprotein CD1e, membrane-associated
    Protein Accession:
    P15812
    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

    Protein attributes for CD1E Gene

    Size:
    388 amino acids
    Molecular mass:
    43626 Da
    Quaternary structure:
    • Heterodimer with B2M (beta-2-microglobulin). The association with B2M appears to be facilitated by the presence of the propeptide.
    SequenceCaution:
    • Sequence=CAA33100.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CD1E Gene

    Alternative splice isoforms for CD1E Gene

neXtProt entry for CD1E Gene

Proteomics data for CD1E Gene at MOPED

Post-translational modifications for CD1E Gene

  • Mono-ubiquitinated.
  • Proteolytically cleaved in late endosomes to yield a soluble form.
  • Ubiquitination at Lys 170, Lys 179, Lys 206, Lys 208, Lys 210, Lys 358, Lys 373, and Lys 331
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CD1E Gene

Domains & Families for CD1E Gene

Gene Families for CD1E Gene

Suggested Antigen Peptide Sequences for CD1E Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15812

UniProtKB/Swiss-Prot:

CD1E_HUMAN :
  • Contains 1 Ig-like (immunoglobulin-like) domain.
Domain:
  • Contains 1 Ig-like (immunoglobulin-like) domain.
genes like me logo Genes that share domains with CD1E: view

Function for CD1E Gene

Molecular function for CD1E Gene

GENATLAS Biochemistry:
cell differentiation antigen CD1E (see CD1@)
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with CD1E: view

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CD1E Gene

Localization for CD1E Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD1E Gene

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.
T-cell surface glycoprotein CD1e, soluble: Lysosome lumen.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CD1E Gene COMPARTMENTS Subcellular localization image for CD1E gene
Compartment Confidence
endosome 5
golgi apparatus 5
lysosome 5
plasma membrane 5
vacuole 5
extracellular 1

Gene Ontology (GO) - Cellular Components for CD1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043202 lysosomal lumen IEA --
genes like me logo Genes that share ontologies with CD1E: view

Pathways & Interactions for CD1E Gene

genes like me logo Genes that share pathways with CD1E: view

Pathways by source for CD1E Gene

Interacting Proteins for CD1E Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000357149%0d%0a9606.ENSP00000452780%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: P15812-CD1E_HUMAN ENSP00000357149 for CD1E Gene via I2D STRING

Gene Ontology (GO) - Biological Process for CD1E Gene

None

No data available for SIGNOR curated interactions for CD1E Gene

Drugs & Compounds for CD1E Gene

(3) Drugs for CD1E Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Full agonist, Agonist Endogenous agonist at S1P1-5 0

(462) Additional Compounds for CD1E Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with CD1E: view

Transcripts for CD1E Gene

Unigene Clusters for CD1E Gene

CD1e molecule:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CD1E Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7
SP1: - - - - - -
SP2: - - - -
SP3: - - -
SP4: - - - - - - - -
SP5: - - - - -
SP6: - - - - - - -
SP7: - - -
SP8: - - - - - - -
SP9: - - - - - -
SP10: - - - - - - - - -
SP11: - - -
SP12:
SP13: -

Relevant External Links for CD1E Gene

GeneLoc Exon Structure for
CD1E
ECgene alternative splicing isoforms for
CD1E

Expression for CD1E Gene

mRNA expression in normal human tissues for CD1E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD1E Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x5.9), Esophagus - Mucosa (x5.2), and Skin - Sun Exposed (Lower leg) (x4.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CD1E Gene



SOURCE GeneReport for Unigene cluster for CD1E Gene Hs.249217

mRNA Expression by UniProt/SwissProt for CD1E Gene

P15812-CD1E_HUMAN
Tissue specificity: Expressed on cortical thymocytes, dendritic cells, Langerhans cells, on certain T-cell leukemias, and in various other tissues.
genes like me logo Genes that share expression patterns with CD1E: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for CD1E Gene

Orthologs for CD1E Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD1E Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD1E 36
  • 97 (a)
OneToOne
CD1E 35
  • 98.68 (n)
  • 96.84 (a)
cow
(Bos Taurus)
Mammalia CD1E 36
  • 68 (a)
OneToOne
CD1E 35
  • 77.87 (n)
  • 69.58 (a)
dog
(Canis familiaris)
Mammalia CD1E 35
  • 73.23 (n)
  • 66.04 (a)
CD1E 36
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves CD1.2 36
  • 24 (a)
ManyToMany
CD1A1 36
  • 26 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 27 (a)
OneToMany
Species with no ortholog for CD1E:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CD1E Gene

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

Paralogs for CD1E Gene

Paralogs for CD1E Gene

(14) SIMAP similar genes for CD1E Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CD1E: view

Variants for CD1E Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CD1E Gene

P15812-CD1E_HUMAN
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 (PubMed:12144626, PubMed:11019917, PubMed:18325888). The sequence shown is that of allele CD1E*01.

Sequence variations from dbSNP and Humsavar for CD1E Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1065457 - 158,354,635(+) TATCC(A/G)GATAG intron-variant, reference, missense
VAR_010192 -
rs200741122 - 158,355,525(+) ATTTC(C/T)AGCGG intron-variant, reference, missense
rs3180089 - 158,354,032(+) TCCTG(A/G)GGAAA reference, missense
rs2873587 - 158,354,623(+) CTTCC(A/G)TAGTT intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CD1E Gene

Variant ID Type Subtype PubMed ID
dgv393n71 CNV Gain 21882294
nsv831692 CNV Gain 17160897

Variation tolerance for CD1E Gene

Residual Variation Intolerance Score: 87.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.87; 35.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CD1E Gene

HapMap Linkage Disequilibrium report
CD1E
Human Gene Mutation Database (HGMD)
CD1E

Disorders for CD1E Gene

MalaCards: The human disease database

(2) MalaCards diseases for CD1E Gene - From: GeneCards

Disorder Aliases PubMed IDs
mycobacterium malmoense
  • m. malmoense
multifocal motor neuropathy
  • mmn
- elite association - COSMIC cancer census association via MalaCards
Search CD1E in MalaCards View complete list of genes associated with diseases

Relevant External Links for CD1E

Genetic Association Database (GAD)
CD1E
Human Genome Epidemiology (HuGE) Navigator
CD1E
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD1E
genes like me logo Genes that share disorders with CD1E: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CD1E Gene

Publications for CD1E Gene

  1. Characterization of CD1e, a third type of CD1 molecule expressed in dendritic cells. (PMID: 10948205) Angenieux C. … de La Salle H. (J. Biol. Chem. 2000) 2 3 4 67
  2. A naturally occurring mutation in CD1e impairs lipid antigen presentation. (PMID: 18325888) Tourne S. … de la Salle H. (J. Immunol. 2008) 3 23
  3. Probing nuclear pore complex architecture with proximity-dependent biotinylation. (PMID: 24927568) Kim D.I. … Roux K.J. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  4. Dynamics of the antigen-binding grooves in CD1 proteins: reversible hydrophobic collapse in the lipid-free state. (PMID: 23677998) GarzA^n D. … Faraldo-GA^mez J.D. (J. Biol. Chem. 2013) 3
  5. Deciphering the role of CD1e protein in mycobacterial phosphatidyl-myo-inositol mannosides (PIM) processing for presentation by CD1b to T lymphocytes. (PMID: 22782895) Cala-De Paepe D. … Gilleron M. (J. Biol. Chem. 2012) 3

Products for CD1E Gene

Sources for CD1E Gene

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