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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
  • T-Cell Surface Glycoprotein CD1e, Membrane-Associated 3
  • 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 Autoimmune Neuropathy. Among its related pathways are Hematopoietic cell lineage and Tight junction. GO annotations related to this gene include lipid binding and lipopeptide binding. An important paralog of this gene is CD1A.

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

Additional gene information for CD1E Gene

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

Genomics for CD1E Gene

Regulatory Elements for CD1E Gene

Enhancers for CD1E Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H157991 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -345.9 -345925 32 GLI4 ZNF2 ETS1 ZNF121 GLIS2 ZNF143 FOS RUNX3 MCM3 REST LOC246784 KIRREL1 CD1E OR10T2 KIRREL1-IT1
GH01H158333 0.6 FANTOM5 dbSUPER 22 -19.5 -19456 0 CD1E CD1B OR6Y1 OR10K2 OR6K6 OR10T2 CD1C
GH01H158400 0.6 FANTOM5 dbSUPER 15.7 +47.6 47590 0 CD1E CD1B OR10T2 OR10K1 OR6K3 OR6N1 OR10K2
GH01H158283 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.2 -65.3 -65317 9 HDGF PKNOX1 RB1 SIN3A BMI1 BATF ZNF143 FOS ATF7 ETV6 CD1B CD1E CD1C GC01P158286
GH01H158247 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.9 -104.7 -104735 2 CBFB MAX POLR2A EED IKZF1 SCRT2 ETV6 MLLT1 RUNX3 IKZF2 CD1C CD1E CD1D CD1B OR10T2 CD1A GC01P158261 GC01P158260
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CD1E on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for CD1E Gene

  • Mono-ubiquitinated.
  • Proteolytically cleaved in late endosomes to yield a soluble form.
  • Ubiquitination at posLast=170170, Lys179, posLast=206206, Lys208, posLast=210210, posLast=358358, Lys373, and posLast=331331
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for CD1E

No data available for DME Specific Peptides for CD1E Gene

Domains & Families for CD1E Gene

Gene Families for CD1E Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CD1E Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

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.

Phenotypes From GWAS Catalog for CD1E Gene

Gene Ontology (GO) - Molecular Function for CD1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
GO:0030881 beta-2-microglobulin binding IBA --
GO:0030883 endogenous lipid antigen binding IBA --
GO:0030884 exogenous lipid antigen binding IBA --
GO:0071723 lipopeptide binding IBA --
genes like me logo Genes that share ontologies with CD1E: view
genes like me logo Genes that share phenotypes with CD1E: view

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for CD1E
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD1E gene
Compartment Confidence
plasma membrane 5
lysosome 5
golgi apparatus 5
endosome 5
extracellular 1

Gene Ontology (GO) - Cellular Components for CD1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005764 lysosome IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005770 late endosome IEA --
genes like me logo Genes that share ontologies with CD1E: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD1E Gene

Pathways & Interactions for CD1E Gene

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

Pathways by source for CD1E Gene

2 KEGG pathways for CD1E Gene

Gene Ontology (GO) - Biological Process for CD1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006955 immune response NAS 2467814
GO:0048007 antigen processing and presentation, exogenous lipid antigen via MHC class Ib IBA --
genes like me logo Genes that share ontologies with CD1E: view

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 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:

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for CD1E
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CD1E Gene



NURSA nuclear receptor signaling pathways regulating expression of CD1E Gene:

CD1E

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.

Evidence on tissue expression from TISSUES for CD1E Gene

  • Blood(2.3)
genes like me logo Genes that share expression patterns with CD1E: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 98.68 (n)
cow
(Bos Taurus)
Mammalia CD1E 33 34
  • 77.87 (n)
dog
(Canis familiaris)
Mammalia CD1E 33 34
  • 73.23 (n)
chicken
(Gallus gallus)
Aves CD1A1 34
  • 26 (a)
ManyToMany
CD1.2 34
  • 24 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 27 (a)
OneToMany
Species where no ortholog for CD1E was found in the sources mined by GeneCards:
  • 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

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 (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
rs1000634046 -- 158,355,854(+) CTGTG(A/G)CCCCA reference, missense
rs1000913010 -- 158,357,316(+) ATCTG(A/T)ATTCA utr-variant-3-prime
rs1000936446 -- 158,355,440(+) GGGCC(A/C)AGAAC intron-variant, reference, missense
rs1001005830 -- 158,352,190(+) GTTTG(G/T)TTTTT upstream-variant-2KB
rs1001334616 -- 158,353,257(+) CCTGC(C/T)CTCTA upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv1010608 CNV loss 25217958
nsv831692 CNV gain 17160897
nsv999542 CNV loss 25217958

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

Human Gene Mutation Database (HGMD)
CD1E
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD1E

Disorders for CD1E Gene

MalaCards: The human disease database

(4) MalaCards diseases for CD1E Gene - From: HGMD, DISEASES, and GeneCards

- 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. Cutting edge: a naturally occurring mutation in CD1e impairs lipid antigen presentation. (PMID: 18325888) Tourne S … de la Salle H (Journal of immunology (Baltimore, Md. : 1950) 2008) 3 4 22 60
  2. Characterization of CD1e, a third type of CD1 molecule expressed in dendritic cells. (PMID: 10948205) Angenieux C … de La Salle H (The Journal of biological chemistry 2000) 2 3 4 60
  3. Crystal structure of human CD1e reveals a groove suited for lipid-exchange processes. (PMID: 21788486) Garcia-Alles LF … de la Salle H (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4 60
  4. Association of CD1A +622 T/C, +737 G/C and CD1E +6129 A/G genes polymorphisms with multiple sclerosis. (PMID: 20954848) Jamshidian A … Kamali-Sarvestani E (Immunological investigations 2010) 3 45 60
  5. The assembly of CD1e is controlled by an N-terminal propeptide which is processed in endosomal compartments. (PMID: 19196239) Maître B … de la Salle H (The Biochemical journal 2009) 3 4 60

Products for CD1E Gene

Sources for CD1E Gene

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