ITPR1 - inositol 1,4,5-trisphosphate receptor type 1 Gene

Also Known as ACV; CLA4; IP3R; IP3R1; SCA15; SCA16; SCA29; INSP3R1; PPP1R94

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3708

About ITPR1

Cytogenetic location: 3p26.1 Genomic coordinates (GRCh38): 3:4,493,348-4,847,506 (from NCBI)

This gene has 55 transcripts (splice variants), 272 orthologues, 5 paralogues and is associated with 10 phenotypes. Ubiquitous expression in thyroid (RPKM 15.8), brain (RPKM 10.9) and 22 other tissues.

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]

ITPR1 Products (4)

mRNA	Protein	Name
NM_001099952.4	NP_001093422.2	inositol 1,4,5-trisphosphate receptor type 1 isoform 1
NM_001168272.2	NP_001161744.1	inositol 1,4,5-trisphosphate receptor type 1 isoform 3
NM_001378452.1	NP_001365381.1	inositol 1,4,5-trisphosphate receptor type 1 isoform 4
NM_002222.7	NP_002213.5	inositol 1,4,5-trisphosphate receptor type 1 isoform 2

ITPR1 Protein Structure

Ins145_P3_rec

MIR

RYDR_ITPR

RIH_assoc

Ion_trans

0
500
1000
1500
2000
2500
2743 a.a.

Protein Preferred Names	Protein Names
inositol 1,4,5-trisphosphate receptor type 1	IP3 receptor

ITPR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ITPR1	Q14643	BCL2L10	Homo sapiens	Q9HD36	Anti Bait CoIP	27995898
Intra	ITPR1	Q14643	BCL2L10	Homo sapiens	Q9HD36	Pull Down	27995898
Intra	ITPR1	Q14643	AHCYL1	Homo sapiens	O43865	Pull Down	27995898

Cross: Cross-species interaction Intra: Intraspecies interaction

ITPR1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81851	IP3 Receptor Antibody (YA1596)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia 15	SCA15 Spinocerebellar Ataxia Type 15 Spinocerebellar Ataxia Type 16 Sca16 Spinocerebellar Ataxia Type 15/16 Spinocerebellar Ataxia 16, Formerly Sca16, Formerly Spinocerebellar Ataxia 16 Sca15/16 Ataxia, Spinocerebellar, Type 15
Spinocerebellar Ataxia 29	Spinocerebellar Ataxia Type 29 SCA29 Cnpca Cerebellar Vermis Aplasia Aplasia Of Cerebellar Vermis Acv Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant Spinocerebellar Ataxia 29, Congenital Nonprogressive Congenital Nonprogressive Spinocerebellar Ataxia Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive Familial Aplasia Of The Vermis
Gillespie Syndrome	GLSP Aniridia, Cerebellar Ataxia And Mental Deficiency Aniridia Cerebellar Ataxia Mental Deficiency Aniridia, Cerebellar Ataxia, And Mental Retardation Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome Aniridia-Cerebellar Ataxia-Intellectual Disability Aniridia-Cerebellar Ataxia-Mental Deficiency Partial Aniridia-Cerebellar Ataxia-Oligophrenia Aniridia, Cerebellar Ataxia, And Intellectual Disability
Spinocerebellar Ataxia 30	Spinocerebellar Ataxia Type 30 SCA30 Cerebellar Ataxia Early-Onset Nonprogressive Spinocerebellar Ataxia 29 Acv Aplasia Of Cerebellar Vermis Cerebellar Vermis Aplasia Congenital Nonprogressive Spinocerebellar Ataxia Sca29 Spinocerebellar Ataxia Type 29
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Anterior Segment Dysgenesis 1	Anterior Segment Mesenchymal Dysgenesis Anterior Segment Dysgenesis 1, Multiple Subtypes ASGD1 Asmd Anterior Segment Ocular Dysgenesis Asod Familial Ocular Anterior Segment Mesenchymal Dysgenesis Ocular Anterior Segment Dysgenesis Dysgenesis, Anterior Segment, Type 1 Axenfeld-Rieger Syndrome, Type 3 Irido-Corneal Dysgenesis
Spastic Ataxia	Spax Ataxia, Spastic
Cerebral Palsy, Ataxic, Autosomal Recessive	Ataxic Cerebral Palsy Acp Hypotonic Cerebral Palsy Cerebral Palsy Ataxic Cerebral Palsy, Atonic Congenital Cerebral Palsy With Ataxia Ataxic Cerebral Paralysis Ataxia With Cerebral Palsy Cerebral Infantile Diataxia
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Anhidrosis, Isolated, With Normal Sweat Glands	Isolated Anhidrosis With Normal Sweat Glands Dann-Epstein-Sohar Syndrome ANHD Isolated Generalized Anhidrosis With Normal Sweat Glands Anhidrosis, Familial Generalized, With Normal Sweat Glands
Spinocerebellar Ataxia 26	Spinocerebellar Ataxia Type 26 SCA26 Ataxia, Spinocerebellar, Type 26
Cerebellar Ataxia Type 42	Sca42
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Wolfram Syndrome 2	WFS2
Immunodeficiency 10	Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 Combined Immunodeficiency Due To Stim1 Deficiency IMD10 Stim1 Deficiency Cid Due To Stim1 Deficiency Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2 Immunodeficiency, Type 10
T Cell And Nk Cell Immunodeficiency
Spinocerebellar Ataxia 5	Spinocerebellar Ataxia Type 5 SCA5 Spinocerebellar Ataxia-5 Ataxia, Spinocerebellar, Type 5
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Spinocerebellar Ataxia, Autosomal Recessive 4	SCAR4 Scasi Spinocerebellar Ataxia With Saccadic Intrusions Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome Spinocerebellar Ataxia 24 Autosomal Recessive Spinocerebellar Ataxia 4 Sca24 Spinocerebellar Ataxia 24, Formerly Sca24, Formerly Spinocerebellar Ataxia Autosomal Recessive 4 Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Spinocerebellar Ataxia 40	Spinocerebellar Ataxia Type 40 SCA40 Ataxia, Spinocerebellar, Type 40
Episodic Ataxia, Type 2	Episodic Ataxia Type 2 EA2 Apca Capa Cerebellopathy, Hereditary Paroxysmal Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive Episodic Ataxia With Nystagmus Ataxia, Episodic, With Nystagmus Episodic Ataxia, Nystagmus-Associated Ataxia, Familial Paroxysmal Acetazolamide-Responsive Episodic Ataxia Syndrome Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia Ataxia, Familial, Paroxysmal Nystagmus-Associated Episodic Ataxia Familial Paroxysmal Ataxia Episodic Ataxia 2 Ea-2 Episodic Ataxia Nystagmus-Associated Hereditary Paroxysmal Cerebellopathy Ataxia, Episodic, Type 2
Spinocerebellar Ataxia, X-Linked 3	Scax3 X-Linked Spinocerebellar Ataxia 3 X-Linked Ataxia-Deafness Syndrome X-Linked Spinocerebellar Ataxia Type 3 Ataxia-Deafness Syndrome, X-Linked Spinocerebellar Ataxia X-Linked Type 3 Ataxia-Deafness Syndrome X-Linked X-Linked Ataxia-Hearing Loss Syndrome Spinocerebellar Ataxia, X-Linked, 3
Spinocerebellar Ataxia, X-Linked 4	Scax4 X-Linked Spinocerebellar Ataxia 4 X-Linked Ataxia-Dementia Syndrome X-Linked Spinocerebellar Ataxia Type 4 Ataxia-Dementia Syndrome, X-Linked Spinocerebellar Ataxia X-Linked Type 4 Ataxia-Dementia Syndrome X-Linked Spinocerebellar Ataxia, X-Linked, 4
Dentatorubral-Pallidoluysian Atrophy	DRPLA Naito-Oyanagi Disease Haw River Syndrome Myoclonic Epilepsy With Choreoathetosis Nod Ataxia, Chorea, Seizures, And Dementia Dentatorubropallidoluysian Atrophy Hrs Naito Oyanagi Disease Dentatorubral Pallidoluysian Atrophy Dentatorubro-Pallidoluysian Atrophy Myoclonic Epilepsies, Progressive Atrophy, Pallidoluysian, Dentatorubral
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Spinocerebellar Ataxia 1	Spinocerebellar Ataxia Type 1 SCA1 Olivopontocerebellar Atrophy I Opca1 Opca4 Menzel Type Opca Schut-Haymaker Type Opca Spinocerebellar Atrophy I Opca I Olivopontocerebellar Atrophy Iv Opca Iv Cerebelloparenchymal Disorder I Cpd1 Olivopontocerebellar Atrophy 1 Cerebelloparenchymal Disorder 1 Olivopontocerebellar Atrophy 4 Spinocerebellar Atrophy 1 Type 1 Spinocerebellar Ataxia Spinocerebellar Ataxia-1 Ataxia, Spinocerebellar, Type 1
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-163171	ARN11391		99.40%	Unkown
HY-RS29492	Itpr1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS06991	ITPR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ITPR1	RGD	RGD:2933
Canis familiaris	ITPR1	VGNC	VGNC:42157
Felis catus	ITPR1	VGNC	VGNC:67869
Mus musculus	ITPR1	MGD	MGI:96623
Macaca mulatta	ITPR1	VGNC	VGNC:73804
Bos taurus	ITPR1	VGNC	VGNC:30346
Others	ITPR1	NCBI