CD1E (CD1e molecule)

2014-11-01  

Identity

HGNC
CD1E
LOCATION
1q23.1
LOCUSID
913
ALIAS
CD1A,R2

Other Information

Locus ID:

NCBI: 913
MIM: 188411
HGNC: 1638
Ensembl: ENSG00000158488

Variants:

dbSNP: 913
ClinVar: 913
TCGA: ENSG00000158488
COSMIC: CD1E

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158488ENST00000368154P15812
ENSG00000158488ENST00000368155P15812
ENSG00000158488ENST00000368156P15812
ENSG00000158488ENST00000368157P15812
ENSG00000158488ENST00000368160P15812
ENSG00000158488ENST00000368161P15812
ENSG00000158488ENST00000368162H0Y345
ENSG00000158488ENST00000368163P15812
ENSG00000158488ENST00000368164P15812
ENSG00000158488ENST00000368165P15812
ENSG00000158488ENST00000368166P15812
ENSG00000158488ENST00000368167P15812
ENSG00000158488ENST00000444681P15812
ENSG00000158488ENST00000452291P15812

Expression (GTEx)

0
1
2
3
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Hematopoietic cell lineageKEGGko04640
Tight junctionKEGGhsa04530
Hematopoietic cell lineageKEGGhsa04640

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
324670402020CD1 gene polymorphism and susceptibility to celiac disease: Association of CD1E*02/02 in Moroccans.1
324670402020CD1 gene polymorphism and susceptibility to celiac disease: Association of CD1E*02/02 in Moroccans.1
293016562018CD1A and CD1E gene polymorphisms are not associated with susceptibility to Guillain-Barré syndrome in the Bangladeshi population.2
293016562018CD1A and CD1E gene polymorphisms are not associated with susceptibility to Guillain-Barré syndrome in the Bangladeshi population.2
276538622016Polymorphisms in exon 2 of CD1 genes are associated with susceptibility to Guillain-Barré syndrome.5
276538622016Polymorphisms in exon 2 of CD1 genes are associated with susceptibility to Guillain-Barré syndrome.5
236779982013Dynamics of the antigen-binding grooves in CD1 proteins: reversible hydrophobic collapse in the lipid-free state.12
236779982013Dynamics of the antigen-binding grooves in CD1 proteins: reversible hydrophobic collapse in the lipid-free state.12
227828952012Deciphering the role of CD1e protein in mycobacterial phosphatidyl-myo-inositol mannosides (PIM) processing for presentation by CD1b to T lymphocytes.20
228800582012Lysosomal-associated transmembrane protein 5 (LAPTM5) is a molecular partner of CD1e.1
227828952012Deciphering the role of CD1e protein in mycobacterial phosphatidyl-myo-inositol mannosides (PIM) processing for presentation by CD1b to T lymphocytes.20
228800582012Lysosomal-associated transmembrane protein 5 (LAPTM5) is a molecular partner of CD1e.1
214811862011Increased flexibility and liposome-binding capacity of CD1e at endosomal pH.2
214964002011CD1A and CD1E gene polymorphisms are associated with susceptibility to multiple sclerosis.6
216964992011Polymorphism of CD1 and SH2D2A genes in inflammatory neuropathies.7

Citation

Dessen P

CD1E (CD1e molecule)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61613