CD1E (CD1e molecule)

Gene

• Entrez ID: 913
• Gene name: CD1e molecule
• Gene symbol: CD1E
• Synonyms (NCBI Gene): CD1A, R2
• 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

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
MIRT874042	hsa-miR-4534	CLIP-seq
MIRT874043	hsa-miR-4791	CLIP-seq
MIRT874044	hsa-miR-4310	CLIP-seq
MIRT874045	hsa-miR-4461	CLIP-seq
MIRT874046	hsa-miR-4704-3p	CLIP-seq
MIRT874047	hsa-miR-4729	CLIP-seq

Gene ontology (GO)

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
GO:0005730	Component	Nucleolus	IDA
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	NAS	2467814
GO:0006955	Process	Immune response	IBA
GO:0006955	Process	Immune response	NAS	2467814
GO:0008289	Function	Lipid binding	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030883	Function	Endogenous lipid antigen binding	IBA
GO:0030884	Function	Exogenous lipid antigen binding	IBA
GO:0043202	Component	Lysosomal lumen	IEA
GO:0048006	Process	Antigen processing and presentation, endogenous lipid antigen via MHC class Ib	IBA
GO:0048007	Process	Antigen processing and presentation, exogenous lipid antigen via MHC class Ib	IBA
GO:0071723	Function	Lipopeptide binding	IBA

Other IDs

• MIM: 188411
• HGNC: 1638
• e!Ensembl: ENSG00000158488

Protein

• UniProt ID: 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:

  MLLLFLLFEGLCCPGENTAAPQALQSYHLAAEEQLSFRMLQTSSFANHSWAHSEGSGWLG
  DLQTHGWDTVLGTIRFLKPWSHGNFSKQELKNLQSLFQLYFHSFIQIVQASAGQFQLEYP
  FEIQILAGCRMNAPQIFLNMAYQGSDFLSFQGISWEPSPGAGIRAQNICKVLNRYLDIKE
  ILQSLLGHTCPRFLAGLMEAGESELKRKVKPEAWLSCGPSPGPGRLQLVCHVSGFYPKPV
  WVMWMRGEQEQRGTQRGDVLPNADETWYLRATLDVAAGEAAGLSCRVKHSSLGGHDLIIH
  WGGYSIFLILICLTVIVTLVILVVVDSRLKKQSSNKNILSPHTPSPVFLMGANTQDTKNS
  RHQFCLAQVSWIKNRVLKKWKTRLNQLW

• Sequence length: 388

Pathways

KEGG:

Tight junction
Hematopoietic cell lineage
Amoebiasis

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma of Lung	Associate	34745015, 37506141	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	34412691	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Associate	21496400	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	34745015, 37506141	★☆☆☆☆ Found in Text Mining only