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ITPR1

GENERAL INFORMATION

Gene name

 ITPR1

Gene description

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

Protein class

 Disease related genes
Plasma proteins
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (parathyroid gland)
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA014765 , HPA016487
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Cerebellum

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (parathyroid gland)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ITPR1 (HGNC Symbol)

Synonyms

 ACV, Insp3r1, IP3R1, PPP1R94, SCA15, SCA16, SCA29

Description

 Inositol 1,4,5-trisphosphate receptor, type 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

Chromosome

 3

Cytoband

 p26.1

Chromosome location (bp)

 4493348 - 4847840

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000150995 (version 83.38)

Entrez gene

 3708

UniProt

 Q14643 (UniProt - Evidence at protein level)

neXtProt

 NX_Q14643

Antibodypedia

 ITPR1 antibodies

PROTEIN BROWSER
ITPR1-001
ITPR1-002
ITPR1-004
ITPR1-201
ITPR1-202
ITPR1-203

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ITPR1-001
ENSP00000349597
ENST00000357086
Q14643 [Direct mapping]
Inositol 1,4,5-trisphosphate receptor type 1
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   7TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0002223 [stimulatory C-type lectin receptor signaling pathway]
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:0005488 [binding]
GO:0005515 [protein binding]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
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:0015085 [calcium ion transmembrane transporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019855 [calcium channel inhibitor activity]
GO:0030168 [platelet activation]
GO:0031088 [platelet dense granule membrane]
GO:0031094 [platelet dense tubular network]
GO:0031095 [platelet dense tubular network membrane]
GO:0035091 [phosphatidylinositol binding]
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]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048016 [inositol phosphate-mediated signaling]
GO:0050796 [regulation of insulin secretion]
GO:0050849 [negative regulation of calcium-mediated signaling]
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]
Show all
 2710 aa
308.5 kDa 		No 7
ITPR1-002
ENSP00000397885
ENST00000456211
Q14643 [Direct mapping]
Inositol 1,4,5-trisphosphate receptor type 1
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   7TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0002223 [stimulatory C-type lectin receptor signaling pathway]
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:0005488 [binding]
GO:0005515 [protein binding]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
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:0015085 [calcium ion transmembrane transporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019855 [calcium channel inhibitor activity]
GO:0030168 [platelet activation]
GO:0031088 [platelet dense granule membrane]
GO:0031094 [platelet dense tubular network]
GO:0031095 [platelet dense tubular network membrane]
GO:0035091 [phosphatidylinositol binding]
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]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048016 [inositol phosphate-mediated signaling]
GO:0050796 [regulation of insulin secretion]
GO:0050849 [negative regulation of calcium-mediated signaling]
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]
Show all
 2695 aa
306.8 kDa 		No 7
ITPR1-004
ENSP00000401671
ENST00000443694
Q14643 [Direct mapping]
Inositol 1,4,5-trisphosphate receptor type 1
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   7TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0002223 [stimulatory C-type lectin receptor signaling pathway]
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:0005488 [binding]
GO:0005515 [protein binding]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
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:0015085 [calcium ion transmembrane transporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019855 [calcium channel inhibitor activity]
GO:0030168 [platelet activation]
GO:0031088 [platelet dense granule membrane]
GO:0031094 [platelet dense tubular network]
GO:0031095 [platelet dense tubular network membrane]
GO:0035091 [phosphatidylinositol binding]
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]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048016 [inositol phosphate-mediated signaling]
GO:0050796 [regulation of insulin secretion]
GO:0050849 [negative regulation of calcium-mediated signaling]
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]
Show all
 2743 aa
312.2 kDa 		No 7
ITPR1-201
ENSP00000306253
ENST00000302640
Q14643 [Direct mapping]
Inositol 1,4,5-trisphosphate receptor type 1
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   7TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0002223 [stimulatory C-type lectin receptor signaling pathway]
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:0005488 [binding]
GO:0005515 [protein binding]
GO:0005635 [nuclear envelope]
GO:0005637 [nuclear inner membrane]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005955 [calcineurin complex]
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:0009791 [post-embryonic development]
GO:0014069 [postsynaptic density]
GO:0015085 [calcium ion transmembrane transporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016529 [sarcoplasmic reticulum]
GO:0019855 [calcium channel inhibitor activity]
GO:0030168 [platelet activation]
GO:0031088 [platelet dense granule membrane]
GO:0031094 [platelet dense tubular network]
GO:0031095 [platelet dense tubular network membrane]
GO:0032469 [endoplasmic reticulum calcium ion homeostasis]
GO:0035091 [phosphatidylinositol binding]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0038096 [Fc-gamma receptor signaling pathway involved in phagocytosis]
GO:0042045 [epithelial fluid transport]
GO:0043234 [protein complex]
GO:0044281 [small molecule metabolic process]
GO:0045087 [innate immune response]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048016 [inositol phosphate-mediated signaling]
GO:0050796 [regulation of insulin secretion]
GO:0050849 [negative regulation of calcium-mediated signaling]
GO:0050882 [voluntary musculoskeletal movement]
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]
Show all
 2743 aa
312.2 kDa 		No 7
ITPR1-202
ENSP00000346595
ENST00000354582
Q14643 [Direct mapping]
Inositol 1,4,5-trisphosphate receptor type 1
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   7TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0002223 [stimulatory C-type lectin receptor signaling pathway]
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:0005488 [binding]
GO:0005515 [protein binding]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
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:0015085 [calcium ion transmembrane transporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019855 [calcium channel inhibitor activity]
GO:0030168 [platelet activation]
GO:0031088 [platelet dense granule membrane]
GO:0031094 [platelet dense tubular network]
GO:0031095 [platelet dense tubular network membrane]
GO:0035091 [phosphatidylinositol binding]
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]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048016 [inositol phosphate-mediated signaling]
GO:0050796 [regulation of insulin secretion]
GO:0050849 [negative regulation of calcium-mediated signaling]
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]
Show all
 2758 aa
313.9 kDa 		No 7
ITPR1-203
ENSP00000440564
ENST00000544951
B7ZMI3 [Direct mapping]
ITPR1 protein; Inositol 1,4,5-trisphosphate receptor type 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   3TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005216 [ion channel activity]
GO:0005220 [inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity]
GO:0005783 [endoplasmic reticulum]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0034220 [ion transmembrane transport]
GO:0048016 [inositol phosphate-mediated signaling]
GO:0055085 [transmembrane transport]
Show all
 721 aa
81.9 kDa 		No 3

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.