CD1E (CD1e molecule)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 913
Gene name CD1e molecule
Gene symbol CD1E
Synonyms (NCBI Gene)
CD1AR2
Chromosome 1
Chromosome location 1q23.1
Summary 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 o
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
miRTarBase ID miRNA Experiments Reference
MIRT874037 hsa-miR-190 CLIP-seq
MIRT874038 hsa-miR-190b CLIP-seq
MIRT874039 hsa-miR-3134 CLIP-seq
MIRT874040 hsa-miR-3201 CLIP-seq
MIRT874041 hsa-miR-3613-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IBA
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
188411 1638 ENSG00000158488
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P15812
Protein name T-cell surface glycoprotein CD1e, membrane-associated (hCD1e) (R2G1) (CD antigen CD1e) [Cleaved into: T-cell surface glycoprotein CD1e, soluble (sCD1e)]
Protein 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
PDB 3S6C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16497 MHC_I_3 19 → 204 MHC-I family domain Domain
PF07654 C1-set 219 → 292 Immunoglobulin C1-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed on cortical thymocytes, dendritic cells, Langerhans cells, on certain T-cell leukemias, and in various other tissues. {ECO:0000269|PubMed:10948205}.
Sequence
Sequence length 388
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Tight junction
Hematopoietic cell lineage
Amoebiasis 		 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
SCOLIOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (107)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia Pubtator 20592474 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 22253809
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31295725 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis cutis dyschromia Amyloidosis Cutis Dyschromia BEFREE 28853491
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia LHGDN 15556687
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 12841851 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 14872486, 16096332 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 24115371 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Avellino corneal dystrophy Avellino Corneal Dystrophy BEFREE 17215264, 28853491
★★★★★
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 15756258
★★★★★
★☆☆☆☆
Found in Text Mining only