ITPR1

ITPR1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1N4K, 1XZZ
Identifiers
Aliases	ITPR1, ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29, inositol 1,4,5-trisphosphate receptor type 1
External IDs	OMIM: 147265; MGI: 96623; HomoloGene: 1673; GeneCards: ITPR1; OMA:ITPR1 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	4,847,506 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	108,528,070 bp
RNA expression pattern
	Top expressed in
	tail of epididymis; ; Brodmann area 23; ; primary visual cortex; ; right coronary artery; ; popliteal artery; ; tibial arteries; ; seminal vesicula; ; right hemisphere of cerebellum; ; orbitofrontal cortex; ; left coronary artery;
	Top expressed in
	cerebellar vermis; ; lobe of cerebellum; ; olfactory tubercle; ; vestibular membrane of cochlear duct; ; primary motor cortex; ; Epithelium of choroid plexus; ; cingulate gyrus; ; Region I of hippocampus proper; ; superior frontal gyrus; ; choroid plexus of fourth ventricle;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	calcium channel inhibitor activity; calcium channel activity; inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; calcium ion transmembrane transporter activity; ion channel activity; protein binding; phosphatidylinositol binding; calcium-release channel activity; calcium ion binding; inositol 1,4,5 trisphosphate binding; inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels;
Cellular component	cytoplasm; integral component of membrane; platelet dense tubular network; endoplasmic reticulum membrane; membrane; postsynaptic density; nuclear envelope; calcineurin complex; sarcoplasmic reticulum; nuclear inner membrane; platelet dense granule membrane; nucleolus; platelet dense tubular network membrane; plasma membrane; transport vesicle membrane; cytoplasmic vesicle; perinuclear region of cytoplasm; endoplasmic reticulum; cytoplasmic vesicle membrane; secretory granule membrane; protein-containing complex; Schaffer collateral - CA1 synapse;
Biological process	release of sequestered calcium ion into cytosol; regulation of cardiac conduction; response to hypoxia; voluntary musculoskeletal movement; regulation of insulin secretion; epithelial fluid transport; ion transport; post-embryonic development; endoplasmic reticulum calcium ion homeostasis; platelet activation; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; regulation of autophagy; transmembrane transport; calcium ion transmembrane transport; negative regulation of calcium-mediated signaling; inositol phosphate-mediated signaling; calcium ion transport; apoptotic process; signal transduction; regulation of molecular function; transport; regulation of postsynaptic cytosolic calcium ion concentration;
	Sources:Amigo / QuickGO
Orthologs
	3708
	16438
	ENSG00000150995
	ENSMUSG00000030102
	Q14643
	P11881
	NM_001099952; NM_001168272; NM_002222; NM_001378452
	NM_010585
	NP_001093422; NP_001161744; NP_002213
	NP_034715
	Wikidata
View/Edit Human	View/Edit Mouse

Inositol 1,4,5-trisphosphate receptor type 1 is a protein that in humans is encoded by the ITPR1 gene.^[5]^[6]^[7]^[8]^[9]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000150995 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030102 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Yamada N, Makino Y, Clark RA, Pearson DW, Mattei MG, Guénet JL, Ohama E, Fujino I, Miyawaki A, Furuichi T (Sep 1994). "Human inositol 1,4,5-trisphosphate type-1 receptor, InsP3R1: structure, function, regulation of expression and chromosomal localization". The Biochemical Journal. 302 (Pt 3): 781–90. doi:10.1042/bj3020781. PMC 1137299. PMID 7945203.
^ Nucifora FC, Li SH, Danoff S, Ullrich A, Ross CA (Sep 1995). "Molecular cloning of a cDNA for the human inositol 1,4,5-trisphosphate receptor type 1, and the identification of a third alternatively spliced variant". Brain Research. Molecular Brain Research. 32 (2): 291–6. doi:10.1016/0169-328X(95)00089-B. PMID 7500840.
^ van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB (Jun 2007). "Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans". PLOS Genetics. 3 (6): e108. doi:10.1371/journal.pgen.0030108. PMC 1892049. PMID 17590087.
^ Iwaki A, Kawano Y, Miura S, Shibata H, Matsuse D, Li W, Furuya H, Ohyagi Y, Taniwaki T, Kira J, Fukumaki Y (Jan 2008). "Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16". Journal of Medical Genetics. 45 (1): 32–5. doi:10.1136/jmg.2007.053942. PMID 17932120. S2CID 7730102.
^ "Entrez Gene: ITPR1 inositol 1,4,5-triphosphate receptor, type 1".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000150995 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030102 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7945203-5] Yamada N, Makino Y, Clark RA, Pearson DW, Mattei MG, Guénet JL, Ohama E, Fujino I, Miyawaki A, Furuichi T (Sep 1994). "Human inositol 1,4,5-trisphosphate type-1 receptor, InsP3R1: structure, function, regulation of expression and chromosomal localization". The Biochemical Journal. 302 (Pt 3): 781–90. doi:10.1042/bj3020781. PMC 1137299. PMID 7945203.

[pmid7500840-6] Nucifora FC, Li SH, Danoff S, Ullrich A, Ross CA (Sep 1995). "Molecular cloning of a cDNA for the human inositol 1,4,5-trisphosphate receptor type 1, and the identification of a third alternatively spliced variant". Brain Research. Molecular Brain Research. 32 (2): 291–6. doi:10.1016/0169-328X(95)00089-B. PMID 7500840.

[pmid17590087-7] van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB (Jun 2007). "Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans". PLOS Genetics. 3 (6): e108. doi:10.1371/journal.pgen.0030108. PMC 1892049. PMID 17590087.

[pmid17932120-8] Iwaki A, Kawano Y, Miura S, Shibata H, Matsuse D, Li W, Furuya H, Ohyagi Y, Taniwaki T, Kira J, Fukumaki Y (Jan 2008). "Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16". Journal of Medical Genetics. 45 (1): 32–5. doi:10.1136/jmg.2007.053942. PMID 17932120. S2CID 7730102.

[entrez-9] "Entrez Gene: ITPR1 inositol 1,4,5-triphosphate receptor, type 1".

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