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FLASH GENE

Symbol

ITPR3

contributors: mct - updated : 04-02-2017

HGNC name	inositol 1,4,5-triphosphate receptor, type 3
HGNC id	6182

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	75.19 kb     58 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002224 58 - 9047 NP_002215 - 2671 - Martinez-Gomez (2007)

EXPRESSION

Type	ubiquitous

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 Digestive liver         Homo sapiens   stomach         Homo sapiens Endocrine pancreas         Homo sapiens Respiratory respiratory tract larynx     highly Skin/Tegument skin appendages hair       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic platelet Digestive chief Homo sapiens Nervous neuron Skin/Tegument hair follicle cell Homo sapiens

cell lineage	hematopoietic cells
cell lines	lymphoma cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophobic
STRUCTURE

motifs/domains	a N terminal cytoplasmic ligand binding domain linked by a modulatory domain to a channel forming hydrophobic domain made of six membrane-spanning segments near the C terminus (calcium channel); N-terminal AAs 1-610 are critical for the association with SSFA2 and SSFA2-ITPR3 complex resides in a specialized ER but not a typical reticular ER
	N-terminal portion 1-604 containing binding sites for ANK2
	a MIR domain
	a RIH domain

mono polymer

homomer , tetramer

HOMOLOGY

interspecies

homolog to murine Itpr3

Homologene

FAMILY

INSP3 receptor family

CATEGORY

receptor membrane , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,nucleolus
text	highest concentration adjacent to apical brush border, coexpressed with RYR3
	present in the paranodal regions of the nodes of Ranvier

basic FUNCTION	inositol 1,4,5-triphosphate receptor,involved in Ca++ mobilization from the endoplastic reticulum in intestinal epithelium and platelets movements
	mediating monophasic Ca++ transient
	functioning as an anti-Ca(2+)-oscillatory unit without contributing to peak amplitude of Ca(2+) signals, irrespective of its relative expression level
	plays a crucial role in the regulation of apoptosis signaling in T lymphocytes
	plays a critical role in the development of autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis, and Graves disease
	ITPR1 and ITPR3 may play a redundant role in the development of the second heart field (SHF)
	plays an important role in the regulation of the hair cycle
	essential for tear secretion in both parasympathetic and sympathetic pathways

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

hair shedding is actively controlled by the ITPR3/NFATC1-dependent signaling pathway, possibly through the regulation of cytokeratin filaments in keratinocytes

a component

constituent of heterotetrameric channel with ITPR1 and ITPR2

INTERACTION

DNA

RNA

small molecule

protein	ITPR1, ITPR3
	CAV1 interacts with TRPC1 and ITPR3 to regulate Ca2+ store release-induced Ca2+ entry in endothelial cells
	SSFA2 is associated with inositol 1,4,5-trisphosphate receptor (ITPR3) and is critical for the proper subcellular localization of ITPR3 in the liver and the pancreas
	plays a critical role in induction of apoptosis by preferentially transmitting Ca2+ signals into mitochondria
	BAP1 binds, deubiquitylates, and stabilizes ITPR3, modulating calcium (Ca2+) release from the endoplasmic reticulum into the cytosol and mitochondria, promoting apoptosis

cell & other

REGULATION

Other

poorly sensitive to IP3 and CA++

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to systemic lupus erythematosus (SLE) to developing coronary artery aneurysm (CAA)in children with Kawasaki disease

Variant & Polymorphism SNP	SNPs related to an increased risk for SLE
	rs2229634 SNP in the ITPR3 gene is associated with the risk of CAA formation in Taiwanese Kawasaki disease patients

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Itpr3(-/-) mice had prominent alopecia, which was characterized by repeated hair loss and regrowth