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FLASH GENE

Symbol

CD1D

contributors: mct/npt - updated : 27-05-2014

HGNC name	CD1d molecule
HGNC id	1637

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	6.48 kb     7 Exon(s)

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

regulatory sequence	Promoter
	Binding site
text structure	at least six exons
	TATA boxless dual promoters with multiple transcription initiation sites and SP1 playing a crucial role in the function of the proximal promoter

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	eight alternative transcripts (PMID: 11006091)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001766 7 - 3795 49 335 - 2000 11006091 in frame variant 2 - - - - - - 2000 11006091 out of frame lacking the B2M binding domain variant 3 - - - - - - 2000 11006091 out of frame, antigen and B2M binding sites partially defective variant 4 - - - - - - 2000 11006091 in frame variant 5 - - - - - - 2000 11006091 out of frame, antigen and B2M binding sites partially defective variant 6 - - - - - - 2000 11006091 out of frame, antigen and B2M binding sites partially defective variant 7 - - - - - - 2000 11006091 variant 8 - - - - - - 2000 11006091 out of frame, antigen and B2M binding sites partially defective

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 blood / hematopoietic thymus         Lymphoid/Immune lymph node           spleen         Reproductive female system uterus cervix

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic thymocyte Skin/Tegument keratinocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

growth/childhood

Text	strong in the skin of the children and declined gradually with age, being moderate in adults and weak in the elderly

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three external domains : the antigen binding alpha 1 (domain 1) and the beta(2) microglobulain binding sites (alpha 2 and 3 domains)
	a transmembrane segment (TM1)
	a short cytoplasmic tail, with a tyrosine-based endosomal targeting motif (YXXZ), and a signal that may have relevance to other type I integral membrane proteins that traverse through the endocytic pathway

conjugated

GlycoP

HOMOLOGY

interspecies

ortholog to murine Cd1d

intraspecies

homolog to CD1A,CD1B,CD1C

Homologene

FAMILY

immunoglobulin C-type family

CATEGORY

immunity/defense , antigen , receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
text	translocated in the ER
	CD1D molecules are constantly internalized from the cell surface, recycled through the endocytic compartments, and re-expressed on the cell surface

basic FUNCTION	presentation of lipid antigens to natural killer (NK) T cells
	ligand for CD8(+) T cells
	nonclassical Ag-presenting molecule that presents glycolipid Ags to NKT cells that are involved in immune defense and tumor rejection
	also plays a role in immunoregulatory functions in the epidermis
	present lipids to a unique subpopulation of T cells called NKT cells
	MHC class I-like molecule comprised of a transmembrane glycoprotein (heavy chain) associated with beta2-microglobulin (B2m) that presents lipid antigens to NKT cells
	can undergo multiple rounds of recycling between the cell surface and endosomal compartments to extensively survey changes in lipid composition
	related to the peptide-presenting MHC class I family
	could be a pot
	CD1A, CD1B, CD1C, CD1D bind and present lipid-based antigens to T cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

constituent of membrane glycoprotein

INTERACTION

DNA

RNA

small molecule

protein	binding to B2M
	associating in the ER with both CANX, CALR and with GRP58 in a manner dependent on glucose trimming of its N-linked glycans
	is a CD1D receptor that inhibits CD1D-mediated immune responses (interaction between LILRB12 and CD1D may provide new insights into the regulation of NKT-mediated immunity)
	C/EBP-beta binds to the CCAAT box in the CD1D promoter
	after translocation into the ER, newly synthesized CD1D heavy chains are rapidly glycosylated and bind CALR and calnexin (CNX), which recognize monoglucosylated N-linked glycans
	ROCK1 and ROCK2, negatively regulate CD1D-mediated Ag presentation
	binds to CD1D and inhibits its recognition by NKT cells
	up-regulation of CD1C enhances NKT recognition of CD1D and down-regulation reduces CD1D recognition
	BCL2L1 regulates CD1D-mediated Ag processing and presentation to NKT cells by altering the late endosomal compartment and changing the intracellular localization of CD1D

cell & other	binding to CD8 (+) T cells
	bind a surprising diversity of lipid structures within the secretory pathway, including compounds that have been reported to play roles in cancer, autoimmune diseases, lipid signaling, and cell death
	both CD1D and CD1C are upregulated by RARA signaling in human B cells which is distinct from effects reported in dendritic cells, in which CD1C is inversely downregulated

REGULATION

Other	regulated by MTP in the endoplasmic reticulum
	regulated by IFN-gamma, NF-IL-6, and T cell factor 1/lymphoid enhancer-binding factor 1

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   is associated with CD86 over-expression in B cells from systemic lupus erythematosus

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     exciting new target for immunotherapy of cancer based on tumor immunoregulation

ANIMAL & CELL MODELS