InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ITPR1

Summary

InnateDB Protein

IDBP-14189.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ITPR1

Protein Name

inositol 1,4,5-trisphosphate receptor, type 1

Synonyms

ACV; CLA4; INSP3R1; IP3R; IP3R1; PPP1R94; SCA15; SCA16; SCA29;

Species

Homo sapiens

Ensembl Protein

ENSP00000349597

InnateDB Gene

IDBG-14187 (ITPR1)

Protein Structure

UniProt Annotation

Function

Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5- trisphosphate. Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity). {ECO:0000250}.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Disease Associations

Spinocerebellar ataxia 15 (SCA15) [MIM:606658]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory. {ECO:0000269PubMed:17590087, ECO:0000269PubMed:18579805}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spinocerebellar ataxia 29 (SCA29) [MIM:117360]: An autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor. {ECO:0000269PubMed:22986007}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.
They are also associated with 19 interaction(s) predicted by orthology.

Experimentally validated
Total	46 [view]
Protein-Protein	46 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	19 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005218	intracellular ligand-gated calcium channel activity
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO:0005262	calcium channel activity
GO:0005515	protein binding
GO:0015085	calcium ion transmembrane transporter activity
GO:0035091	phosphatidylinositol binding

Biological Process

GO:0001666	response to hypoxia
GO:0006112	energy reserve metabolic process
GO:0006811	ion transport
GO:0006816	calcium ion transport
GO:0007165	signal transduction
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0007202	activation of phospholipase C activity
GO:0007596	blood coagulation
GO:0008543	fibroblast growth factor receptor signaling pathway
GO:0030168	platelet activation
GO:0038095	Fc-epsilon receptor signaling pathway
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0044281	small molecule metabolic process
GO:0045087	innate immune response (InnateDB)
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0048016	inositol phosphate-mediated signaling
GO:0050796	regulation of insulin secretion
GO:0051209	release of sequestered calcium ion into cytosol
GO:0055085	transmembrane transport
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
GO:0070588	calcium ion transmembrane transport

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0031088	platelet dense granule membrane
GO:0031094	platelet dense tubular network
GO:0031095	platelet dense tubular network membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000493 Inositol 1,4,5-trisphosphate-binding protein receptor
IPR000699 RIH (RyR and IP3R Homology) domain
IPR005821 Ion transport domain
IPR013662 RyR/IP3R Homology associated domain
IPR014821 Inositol 1,4,5-trisphosphate/ryanodine receptor
IPR016093 MIR motif

PFAM

PF01365
PF00520
PF08454
PF08709
PF02815

PRINTS

PR00779

PIRSF

SMART

SM00472

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt