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FLASH GENE

Symbol

CD1E

contributors: SGE/pgu - updated : 27-07-2011

HGNC name	CD1e molecule
HGNC id	1638

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	3.80 kb     6 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_030893 6 - 2063 NP_112155 - 388 - - also called variant 1/isoform a NM_001185113 - - 1385 NP_001172042 - 144 - - also called variant 11/isoform k NM_001185114 - - 1820 NP_001172043 - 289 - - also called variant 13/isoform m NM_001185108 - - 1646 NP_001172037 - 231 - - also called variant 9 (or 7)/isoform i NM_001185112 - - 1550 NP_001172041 - 199 - - also called variant 10/isoform j NM_001185110 - - 1349 NP_001172039 - 132 - - also called variant 12/isoform i NM_001042586 4 - 1514 NP_001036051 - 187 - - also called variant 9/isoform e NM_001042587 4 - 1446 NP_001036052 - 101 - - also called variant 10/isoform f NM_001042585 6 - 1916 NP_001036050 - 321 - - also called variant 4/isoform d NM_001042584 6 - 2013 NP_001036049 - 290 - - also called variant 3/isoform c NM_001042583 6 - 2081 NP_001036048 - 376 - - also called variant 2/isoform b

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive liver         Lymphoid/Immune thymus       highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic thymocyte Lymphoid/Immune dendritic cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a Ig-like (immunoglobulin-like) domain

conjugated

GlycoP

mono polymer

heteromer , dimer

isoforms

Precursor

proteolytically cleaved in late endosomes to yield a soluble form

HOMOLOGY

Homologene

FAMILY

CD1 family of major histocompatibility (MHC)

CATEGORY

immunity/defense , antigen

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
text	cleaved into a soluble form found in lysosome lumen
	LAPTM5 and CD1E colocalize in trans-Golgi and late endosomal compartments

basic FUNCTION	involved in the immune response
	helping to expand the repertoire of glycolipidic T cell antigens to optimize antimicrobial immune resposnes
	related to the peptide-presenting MHC class I family
	could be a pot
	participates in the presentation of lipid antigens in dendritic cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

forming heterodimer with beta-2-microglobulin

INTERACTION

DNA

RNA

small molecule

protein

interaction of LAPTM5 with CD1E, suggesting that LAPTM5 might influence the role of CD1E in the presentation of lipid antigens

cell & other

REGULATION

Other

mono-ubiquitinated, ubiquitination of CD1E appears to trigger its exit from Golgi compartments and its transport to endosomes

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism other	one variant of CD1E with a proline at position 194, does not assist PIM(6) presentation to CD1b-restricted specific T cells, homozygous individuals might display an altered immune response to complex glycolipid Ags

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS