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FLASH GENE

Symbol

CD3E

contributors: mct - updated : 01-09-2017

HGNC name	CD3E antigen, epsilon polypeptide (TiT3 complex)
HGNC id	1674

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IMD18 immunodeficiency 18 , severe, combined lacking T cell expression SCIDTE severe combined immunodeficiency lacking T cells
Location	11q23.3      Physical location : 118.175.294 - 118.186.889
Synonym name	cell differentiation antigen CD3E (gp16),epsilon polypeptide
Synonym symbol(s)	TCRE, T3E, IMD18

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	see CD3@
	clustered with CD3delta, CD3gamma
STRUCTURE	11.60 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see CD3@

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000733 9 - 1534 NP_000724 - 207 - 2011 21669059

EXPRESSION

Type

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 Lymphoid/Immune spleen       highly   thymus       highly Reproductive female system placenta     moderately Homo sapiens Fetal Urinary kidney tubule convoluted tubule     Homo sapiens Fetal

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune T cell

cell lineage

cell lines

fluid/secretion

at STAGE

Text	highly expresed in umbilical cord blood

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an Ig extracellular domain
	a cytoplasmic tail with the immunoreceptor tyrosine based activation motif (ITAM)
	a short extracellular stalk connecting its Ig-like domains to its transmembrane regions

HOMOLOGY

interspecies	ortholog to murine Cd3e
	homolog to rattus Rn.23767
	homolog to C.elegans B0281.5

Homologene

FAMILY

immunoglobuline superfamily

CATEGORY

regulatory , antigen , receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
text	type I membrane protein
	bind to the inner leaflet of the plasma membrane (PM)

basic FUNCTION	acting as a T-cell receptor
	the stalks of the CD3G, CD3E, CD3D, CD247 may be critical in transmitting part of the activation signal directly through the membrane
	membrane association of the CD3E signaling domain is required for optimal thymocyte development and peripheral T cell function

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

immunity/defense

text	positive regulation of cell proliferation

PATHWAY

metabolism

hormone

signaling

signal transduction

a component

with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex

INTERACTION

DNA

RNA

small molecule

protein	strong binding of CD3epsilon to EPS8L1 and NCK1 SH3 domains
	binds EPS8L1 SH3 in a class II orientation, but neither adopts a polyproline II helical conformation nor engages the first proline-binding pocket of the SH3 ligand binding interface
	NCK1 recruitment to the TCR is fundamental to mount an efficient T cell response, and the NCK1-CD3E interaction may represent a target for pharmacological modulation of the immune response
	CD3E recruits NUMB to promote TCR degradation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IMD18 , SCIDTE

related resource

CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in patients with aplastic anemia (AA)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	CD3epsilon transgenic mice, tgepsilon26, exhibits severe immunodeficiency associated with early arrest of T cell development
	mice lacking a functional Cd3e-basic-rich stretch (BRS) exhibited substantial reductions in thymic cellularity and limited CD4- CD8- double-negative (DN) 3 to DN4 thymocyte transition