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ITPR1

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

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)^[1]

Band	3p26.1	Start	4,493,345bp^[1]
Band	3p26.1	End	4,847,506bp^[1]

Gene location (Mouse)

Chr.	Chromosome 6 (mouse)^[2]

Band	6 E1- E2\|6 49.74 cM	Start	108,190,057bp^[2]
Band	6 E1- E2\|6 49.74 cM	End	108,528,070bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

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

BioGPS


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

Species

Human

Mouse

Entrez


3708


16438

Ensembl


ENSG00000150995


ENSMUSG00000030102

UniProt


Q14643


P11881

RefSeq (mRNA)


NM_001099952 NM_001168272 NM_002222 NM_001378452


NM_010585

RefSeq (protein)


NP_001093422 NP_001161744 NP_002213


NP_034715

Location (UCSC)

Chr 3: 4.49 – 4.85 Mb

Chr 6: 108.19 – 108.53 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Inositol 1,4,5-trisphosphate receptor type 1 is aprotein that in humans is encoded by theITPR1gene.^[5]^[6]^[7]^[8]^[9]

Interactions

[edit]

ITPR1 has been shown tointeract with:

Caspr2,^[19]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000150995 –Ensembl, May 2017
^^a ^b ^cGRCm38: 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 ^bSchlossmann 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.Bibcode:2001FEBSL.487..377M.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

[edit]

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

v t e PDB gallery
1n4k: Crystal structure of the inositol 1,4,5-trisphosphate receptor binding core in complex with IP3 1xzz: Crystal structure of the ligand binding suppressor domain of type 1 inositol 1,4,5-trisphosphate receptor

Membrane transport protein:ion channels (TC 1A)

Ca²⁺:Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺:Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺:Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻:Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺:Proton channel	HVCN1
M⁺:CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺:TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+solutes):Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm:Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin