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
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
	Brodmann area 23; ; right coronary artery; ; popliteal artery; ; seminal vesicula; ; orbitofrontal cortex; ; left coronary artery; ; Brodmann area 9; ; postcentral gyrus; ; caput epididymis; ; Brodmann area 46;
	Top expressed in
	cerebellar vermis; ; olfactory tubercle; ; primary motor cortex; ; cingulate gyrus; ; Region I of hippocampus proper; ; superior frontal gyrus; ; retinal pigment epithelium; ; prefrontal cortex; ; globus pallidus; ; stria vascularis;
	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]

Interactions

ITPR1 has been shown to interact with:

Caspr2, ^[19]

References

^ ^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".
^ Ando H, Mizutani A, Matsu-ura T, Mikoshiba K (Mar 2003). "IRBIT, a novel inositol 1,4,5-trisphosphate (IP3) receptor-binding protein, is released from the IP3 receptor upon IP3 binding to the receptor". The Journal of Biological Chemistry. 278 (12): 10602–12. doi: 10.1074/jbc.M210119200. PMID 12525476.
^ Hirota J, Ando H, Hamada K, Mikoshiba K (Jun 2003). "Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1". The Biochemical Journal. 372 (Pt 2): 435–41. doi: 10.1042/BJ20030110. PMC 1223404. PMID 12611586.
^ Maximov A, Tang TS, Bezprozvanny I (Feb 2003). "Association of the type 1 inositol (1,4,5)-trisphosphate receptor with 4.1N protein in neurons". Molecular and Cellular Neurosciences. 22 (2): 271–83. doi: 10.1016/s1044-7431(02)00027-1. PMID 12676536. S2CID 2317354.
^ MacMillan D, Currie S, Bradley KN, Muir TC, McCarron JG (Dec 2005). "In smooth muscle, FK506-binding protein modulates IP3 receptor-evoked Ca2+ release by mTOR and calcineurin". Journal of Cell Science. 118 (Pt 23): 5443–51. doi: 10.1242/jcs.02657. PMID 16278292.
^ Cameron AM, Nucifora FC, Fung ET, Livingston DJ, Aldape RA, Ross CA, Snyder SH (Oct 1997). "FKBP12 binds the inositol 1,4,5-trisphosphate receptor at leucine-proline (1400-1401) and anchors calcineurin to this FK506-like domain". The Journal of Biological Chemistry. 272 (44): 27582–8. doi: 10.1074/jbc.272.44.27582. PMID 9346894.
^ ^a ^b Schlossmann J, Ammendola A, Ashman K, Zong X, Huber A, Neubauer G, Wang GX, Allescher HD, Korth M, Wilm M, Hofmann F, Ruth P (Mar 2000). "Regulation of intracellular calcium by a signalling complex of IRAG, IP3 receptor and cGMP kinase Ibeta". Nature. 404 (6774): 197–201. Bibcode: 2000Natur.404..197S. doi: 10.1038/35004606. PMID 10724174. S2CID 205004996.
^ Mehta D, Ahmmed GU, Paria BC, Holinstat M, Voyno-Yasenetskaya T, Tiruppathi C, Minshall RD, Malik AB (Aug 2003). "RhoA interaction with inositol 1,4,5-trisphosphate receptor and transient receptor potential channel-1 regulates Ca2+ entry. Role in signaling increased endothelial permeability". The Journal of Biological Chemistry. 278 (35): 33492–500. doi: 10.1074/jbc.M302401200. PMID 12766172.
^ Yuan JP, Kiselyov K, Shin DM, Chen J, Shcheynikov N, Kang SH, Dehoff MH, Schwarz MK, Seeburg PH, Muallem S, Worley PF (Sep 2003). "Homer binds TRPC family channels and is required for gating of TRPC1 by IP3 receptors". Cell. 114 (6): 777–89. doi: 10.1016/s0092-8674(03)00716-5. PMID 14505576. S2CID 10552676.
^ Mery L, Magnino F, Schmidt K, Krause KH, Dufour JF (Jan 2001). "Alternative splice variants of hTrp4 differentially interact with the C-terminal portion of the inositol 1,4,5-trisphosphate receptors". FEBS Letters. 487 (3): 377–83. doi: 10.1016/s0014-5793(00)02362-0. PMID 11163362. S2CID 44945442.
^ Argent L, Winter F, Prickett L, Carrasquero-Ordaz M, Olsen AL, Kramer H, Lancaster E, Becker EB (Sep 2020). "Caspr2 interacts with type 1 inositol 1,4,5-trisphosphate receptor in the developing cerebellum and regulatesPurkinje cell morphology". The Journal of Biological Chemistry. 295 (36): 12716–26. doi: 10.1074/jbc.RA120.012655. PMC 7476715. PMID 32675284.

External links

ITPR1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 15

[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".

[pmid12525476-10] Ando H, Mizutani A, Matsu-ura T, Mikoshiba K (Mar 2003). "IRBIT, a novel inositol 1,4,5-trisphosphate (IP3) receptor-binding protein, is released from the IP3 receptor upon IP3 binding to the receptor". The Journal of Biological Chemistry. 278 (12): 10602–12. doi: 10.1074/jbc.M210119200. PMID 12525476.

[pmid12611586-11] Hirota J, Ando H, Hamada K, Mikoshiba K (Jun 2003). "Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1". The Biochemical Journal. 372 (Pt 2): 435–41. doi: 10.1042/BJ20030110. PMC 1223404. PMID 12611586.

[pmid12676536-12] Maximov A, Tang TS, Bezprozvanny I (Feb 2003). "Association of the type 1 inositol (1,4,5)-trisphosphate receptor with 4.1N protein in neurons". Molecular and Cellular Neurosciences. 22 (2): 271–83. doi: 10.1016/s1044-7431(02)00027-1. PMID 12676536. S2CID 2317354.

[pmid16278292-13] MacMillan D, Currie S, Bradley KN, Muir TC, McCarron JG (Dec 2005). "In smooth muscle, FK506-binding protein modulates IP3 receptor-evoked Ca2+ release by mTOR and calcineurin". Journal of Cell Science. 118 (Pt 23): 5443–51. doi: 10.1242/jcs.02657. PMID 16278292.

[pmid9346894-14] Cameron AM, Nucifora FC, Fung ET, Livingston DJ, Aldape RA, Ross CA, Snyder SH (Oct 1997). "FKBP12 binds the inositol 1,4,5-trisphosphate receptor at leucine-proline (1400-1401) and anchors calcineurin to this FK506-like domain". The Journal of Biological Chemistry. 272 (44): 27582–8. doi: 10.1074/jbc.272.44.27582. PMID 9346894.

[pmid10724174-15] Schlossmann J, Ammendola A, Ashman K, Zong X, Huber A, Neubauer G, Wang GX, Allescher HD, Korth M, Wilm M, Hofmann F, Ruth P (Mar 2000). "Regulation of intracellular calcium by a signalling complex of IRAG, IP3 receptor and cGMP kinase Ibeta". Nature. 404 (6774): 197–201. Bibcode: 2000Natur.404..197S. doi: 10.1038/35004606. PMID 10724174. S2CID 205004996.

[pmid12766172-16] Mehta D, Ahmmed GU, Paria BC, Holinstat M, Voyno-Yasenetskaya T, Tiruppathi C, Minshall RD, Malik AB (Aug 2003). "RhoA interaction with inositol 1,4,5-trisphosphate receptor and transient receptor potential channel-1 regulates Ca2+ entry. Role in signaling increased endothelial permeability". The Journal of Biological Chemistry. 278 (35): 33492–500. doi: 10.1074/jbc.M302401200. PMID 12766172.

[pmid14505576-17] Yuan JP, Kiselyov K, Shin DM, Chen J, Shcheynikov N, Kang SH, Dehoff MH, Schwarz MK, Seeburg PH, Muallem S, Worley PF (Sep 2003). "Homer binds TRPC family channels and is required for gating of TRPC1 by IP3 receptors". Cell. 114 (6): 777–89. doi: 10.1016/s0092-8674(03)00716-5. PMID 14505576. S2CID 10552676.

[pmid11163362-18] Mery L, Magnino F, Schmidt K, Krause KH, Dufour JF (Jan 2001). "Alternative splice variants of hTrp4 differentially interact with the C-terminal portion of the inositol 1,4,5-trisphosphate receptors". FEBS Letters. 487 (3): 377–83. doi: 10.1016/s0014-5793(00)02362-0. PMID 11163362. S2CID 44945442.

[pmid32675284-19] Argent L, Winter F, Prickett L, Carrasquero-Ordaz M, Olsen AL, Kramer H, Lancaster E, Becker EB (Sep 2020). "Caspr2 interacts with type 1 inositol 1,4,5-trisphosphate receptor in the developing cerebellum and regulatesPurkinje cell morphology". The Journal of Biological Chemistry. 295 (36): 12716–26. doi: 10.1074/jbc.RA120.012655. PMC 7476715. PMID 32675284.

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Interactions

See also

References

Further reading

External links

Interactions

See also

References

Further reading

External links

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