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Protein

Inositol 1,4,5-trisphosphate receptor type 1

Gene

ITPR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate (PubMed:27108797). Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity).By similarity1 Publication

Miscellaneous

Calcium appears to inhibit ligand binding to the receptor, most probably by interacting with a distinct calcium-binding protein which then inhibits the receptor.

Caution

Alternative splice sites (AA 1053-1054) represent a non-canonical GA-AG donor-acceptor pair, but are well-supported by all available human transcripts, and by homologous transcripts in mouse, rat and cow.Curated

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCalcium channel, Ion channel, Ligand-gated ion channel, Receptor
Biological processApoptosis, Calcium transport, Ion transport, Transport
LigandCalcium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-112043 PLC beta mediated events
R-HSA-114508 Effects of PIP2 hydrolysis
R-HSA-139853 Elevation of cytosolic Ca2+ levels
R-HSA-1489509 DAG and IP3 signaling
R-HSA-2029485 Role of phospholipids in phagocytosis
R-HSA-2871809 FCERI mediated Ca+2 mobilization
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-4086398 Ca2+ pathway
R-HSA-418457 cGMP effects
R-HSA-422356 Regulation of insulin secretion
R-HSA-5218921 VEGFR2 mediated cell proliferation
R-HSA-5578775 Ion homeostasis
R-HSA-5607763 CLEC7A (Dectin-1) induces NFAT activation
R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q14643

SIGNOR Signaling Network Open Resource

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SIGNORi
Q14643

Protein family/group databases

Transport Classification Database

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TCDBi
1.A.3.2.6 the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Inositol 1,4,5-trisphosphate receptor type 1
Alternative name(s):
IP3 receptor isoform 1
Short name:
IP3R 1
Short name:
InsP3R1
Type 1 inositol 1,4,5-trisphosphate receptor
Short name:
Type 1 InsP3 receptor
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ITPR1
Synonyms:INSP3R1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000150995.18

Human Gene Nomenclature Database

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HGNCi
HGNC:6180 ITPR1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
147265 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q14643

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 2282CytoplasmicSequence analysisAdd BLAST2282
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei2283 – 2303HelicalSequence analysisAdd BLAST21
Topological domaini2304 – 2314LumenalSequence analysisAdd BLAST11
Transmembranei2315 – 2335HelicalSequence analysisAdd BLAST21
Topological domaini2336 – 2361CytoplasmicSequence analysisAdd BLAST26
Transmembranei2362 – 2382HelicalSequence analysisAdd BLAST21
Topological domaini2383 – 2405LumenalSequence analysisAdd BLAST23
Transmembranei2406 – 2426HelicalSequence analysisAdd BLAST21
Topological domaini2427 – 2448CytoplasmicSequence analysisAdd BLAST22
Transmembranei2449 – 2469HelicalSequence analysisAdd BLAST21
Topological domaini2470 – 2577LumenalSequence analysisAdd BLAST108
Transmembranei2578 – 2598HelicalSequence analysisAdd BLAST21
Topological domaini2599 – 2758CytoplasmicSequence analysisAdd BLAST160

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spinocerebellar ataxia 15 (SCA15)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory.
See also OMIM:606658
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0811671083P → L in SCA15. 1 Publication1
Spinocerebellar ataxia 29 (SCA29)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor.
See also OMIM:117360
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069567602N → D in SCA29. 1 PublicationCorresponds to variant dbSNP:rs397514536Ensembl.1
Natural variantiVAR_0695691562V → M in SCA29. 2 PublicationsCorresponds to variant dbSNP:rs397514535Ensembl.1
Gillespie syndrome (GLSP)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and mental retardation.
See also OMIM:206700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0774622109E → Q in GLSP. 1 Publication1
Natural variantiVAR_0774632554G → R in GLSP. 1 PublicationCorresponds to variant dbSNP:rs752281590Ensembl.1
Natural variantiVAR_0774642601F → L in GLSP. 1 PublicationCorresponds to variant dbSNP:rs878853176Ensembl.1
Natural variantiVAR_0774652611Missing in GLSP; alters calcium release of isoform 3. 2 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi241R → Q: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi249K → Q: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi265R → Q: No effect on interaction with AHCYL1. 1 Publication1
Mutagenesisi267T → A: No effect on interaction with AHCYL1. 1 Publication1
Mutagenesisi269R → Q: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi504R → Q: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi506R → Q: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi508K → A: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi511R → A: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi567Y → A: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi568R → Q: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi569K → A: Abolishes interaction with AHCYL1. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNET

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DisGeNETi
3708

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
ITPR1

MalaCards human disease database

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MalaCardsi
ITPR1
MIMi117360 phenotype
206700 phenotype
606658 phenotype

Open Targets

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OpenTargetsi
ENSG00000150995

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
1065 Aniridia-cerebellar ataxia-intellectual disability syndrome
98769 Spinocerebellar ataxia type 15/16
208513 Spinocerebellar ataxia type 29

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29978

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL4046

Drug and drug target database

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DrugBanki
DB00201 Caffeine
DB04077 Glycerol

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
743

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ITPR1

Domain mapping of disease mutations (DMDM)

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DMDMi
519668682

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001539201 – 2758Inositol 1,4,5-trisphosphate receptor type 1Add BLAST2758

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi56S-palmitoyl cysteineBy similarity1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei482PhosphotyrosineSequence analysis1
Lipidationi850S-palmitoyl cysteineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki917Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki972Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki1581Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Modified residuei1598PhosphoserineCombined sources1
Modified residuei1764PhosphoserineCombined sources1
Cross-linki1780Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki1893Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki1894Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki1895Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki1910Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki1933Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki2127Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki2266Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi2512N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei2664PhosphotyrosineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on tyrosine residues.1 Publication
Ubiquitination at multiple lysines targets ITPR1 for proteasomal degradation. Approximately 40% of the ITPR1-associated ubiquitin is monoubiquitin, and polyubiquitins are both 'Lys-48'- and 'Lys-63'-linked (By similarity).By similarity
Phosphorylated by cAMP kinase (PKA). Phosphorylation prevents the ligand-induced opening of the calcium channels. Phosphorylation by PKA increases the interaction with inositol 1,4,5-trisphosphate and decreases the interaction with AHCYL1.By similarity
Palmitoylated by ZDHHC6 in immune cells, leading to regulate ITPR1 stability and function.By similarity

Keywords - PTMi

Glycoprotein, Isopeptide bond, Lipoprotein, Palmitate, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q14643

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14643

MaxQB - The MaxQuant DataBase

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MaxQBi
Q14643

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q14643

PeptideAtlas

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PeptideAtlasi
Q14643

PRoteomics IDEntifications database

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PRIDEi
Q14643

ProteomicsDB human proteome resource

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ProteomicsDBi
60081
60082 [Q14643-2]
60083 [Q14643-3]
60084 [Q14643-4]
60085 [Q14643-5]
60086 [Q14643-6]
60087 [Q14643-7]
60088 [Q14643-8]

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1399

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q14643

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q14643

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q14643

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000150995 Expressed in 227 organ(s), highest expression level in cauda epididymis

CleanEx database of gene expression profiles

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CleanExi
HS_ITPR1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q14643 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14643 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA014765
HPA016487

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer. Interacts with TRPC4. The PPXXF motif binds HOM1, HOM2 and HOM3. Interacts with RYR1, RYR2, ITPR1, SHANK1 and SHANK3. Interacts with ERP44 in a pH-, redox state- and calcium-dependent manner which results in the inhibition the calcium channel activity. The strength of this interaction inversely correlates with calcium concentration. Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1. Interacts with MRVI1 and CABP1 (via N-terminus). Interacts with TESPA1. Interacts (when not phosphorylated) with AHCYL1 (when phosphorylated); the interaction suppresses inositol 1,4,5-trisphosphate binding to ITPR1 (PubMed:16793548). Interacts with AHCYL2 (with lower affinity than with AHCYL1) (PubMed:19220705). Interacts with BOK (via BH4 domain); protects ITPR1 from proteolysis by CASP3 during apoptosis (PubMed:23884412).8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109913, 52 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q14643

Database of interacting proteins

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DIPi
DIP-29714N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q14643

Protein interaction database and analysis system

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IntActi
Q14643, 23 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000306253

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q14643

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q14643

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q14643

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini112 – 166MIR 1PROSITE-ProRule annotationAdd BLAST55
Domaini173 – 223MIR 2PROSITE-ProRule annotationAdd BLAST51
Domaini231 – 287MIR 3PROSITE-ProRule annotationAdd BLAST57
Domaini294 – 373MIR 4PROSITE-ProRule annotationAdd BLAST80
Domaini379 – 435MIR 5PROSITE-ProRule annotationAdd BLAST57

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni265 – 269Inositol 1,4,5-trisphosphate bindingBy similarity5
Regioni508 – 511Inositol 1,4,5-trisphosphate bindingBy similarity4
Regioni567 – 569Inositol 1,4,5-trisphosphate bindingBy similarity3
Regioni2472 – 2537Interaction with ERP44By similarityAdd BLAST66

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand-binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the InsP3 receptor family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3533 Eukaryota
ENOG410XR97 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155071

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007660

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG052158

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q14643

KEGG Orthology (KO)

More...
KOi
K04958

Identification of Orthologs from Complete Genome Data

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OMAi
PRHAPYK

Database of Orthologous Groups

More...
OrthoDBi
94996at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q14643

TreeFam database of animal gene trees

More...
TreeFami
TF312815

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016024 ARM-type_fold
IPR014821 Ins145_P3_rcpt
IPR000493 InsP3_rcpt
IPR005821 Ion_trans_dom
IPR036300 MIR_dom_sf
IPR016093 MIR_motif
IPR013662 RIH_assoc-dom
IPR000699 RIH_dom
IPR015925 Ryanodine_recept-rel
IPR035910 RyR/IP3R_RIH_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR13715 PTHR13715, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08709 Ins145_P3_rec, 1 hit
PF00520 Ion_trans, 1 hit
PF02815 MIR, 1 hit
PF08454 RIH_assoc, 1 hit
PF01365 RYDR_ITPR, 2 hits

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00779 INSP3RECEPTR

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00472 MIR, 4 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF100909 SSF100909, 2 hits
SSF48371 SSF48371, 1 hit
SSF82109 SSF82109, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50919 MIR, 5 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (8+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 8 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: There is a combination of three alternatively spliced domains at site SI, SIII and site SII (A and C). Experimental confirmation may be lacking for some isoforms.

This entry has 8 described isoforms and 17 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q14643-1) [UniParc]FASTAAdd to basket
Also known as: SISIIISIIAC

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSDKMSSFLH IGDICSLYAE GSTNGFISTL GLVDDRCVVQ PETGDLNNPP
60 70 80 90 100
KKFRDCLFKL CPMNRYSAQK QFWKAAKPGA NSTTDAVLLN KLHHAADLEK
110 120 130 140 150
KQNETENRKL LGTVIQYGNV IQLLHLKSNK YLTVNKRLPA LLEKNAMRVT
160 170 180 190 200
LDEAGNEGSW FYIQPFYKLR SIGDSVVIGD KVVLNPVNAG QPLHASSHQL
210 220 230 240 250
VDNPGCNEVN SVNCNTSWKI VLFMKWSDNK DDILKGGDVV RLFHAEQEKF
260 270 280 290 300
LTCDEHRKKQ HVFLRTTGRQ SATSATSSKA LWEVEVVQHD PCRGGAGYWN
310 320 330 340 350
SLFRFKHLAT GHYLAAEVDP DFEEECLEFQ PSVDPDQDAS RSRLRNAQEK
360 370 380 390 400
MVYSLVSVPE GNDISSIFEL DPTTLRGGDS LVPRNSYVRL RHLCTNTWVH
410 420 430 440 450
STNIPIDKEE EKPVMLKIGT SPVKEDKEAF AIVPVSPAEV RDLDFANDAS
460 470 480 490 500
KVLGSIAGKL EKGTITQNER RSVTKLLEDL VYFVTGGTNS GQDVLEVVFS
510 520 530 540 550
KPNRERQKLM REQNILKQIF KLLQAPFTDC GDGPMLRLEE LGDQRHAPFR
560 570 580 590 600
HICRLCYRVL RHSQQDYRKN QEYIAKQFGF MQKQIGYDVL AEDTITALLH
610 620 630 640 650
NNRKLLEKHI TAAEIDTFVS LVRKNREPRF LDYLSDLCVS MNKSIPVTQE
660 670 680 690 700
LICKAVLNPT NADILIETKL VLSRFEFEGV SSTGENALEA GEDEEEVWLF
710 720 730 740 750
WRDSNKEIRS KSVRELAQDA KEGQKEDRDV LSYYRYQLNL FARMCLDRQY
760 770 780 790 800
LAINEISGQL DVDLILRCMS DENLPYDLRA SFCRLMLHMH VDRDPQEQVT
810 820 830 840 850
PVKYARLWSE IPSEIAIDDY DSSGASKDEI KERFAQTMEF VEEYLRDVVC
860 870 880 890 900
QRFPFSDKEK NKLTFEVVNL ARNLIYFGFY NFSDLLRLTK ILLAILDCVH
910 920 930 940 950
VTTIFPISKM AKGEENKGNN DVEKLKSSNV MRSIHGVGEL MTQVVLRGGG
960 970 980 990 1000
FLPMTPMAAA PEGNVKQAEP EKEDIMVMDT KLKIIEILQF ILNVRLDYRI
1010 1020 1030 1040 1050
SCLLCIFKRE FDESNSQTSE TSSGNSSQEG PSNVPGALDF EHIEEQAEGI
1060 1070 1080 1090 1100
FGGSEENTPL DLDDHGGRTF LRVLLHLTMH DYPPLVSGAL QLLFRHFSQR
1110 1120 1130 1140 1150
QEVLQAFKQV QLLVTSQDVD NYKQIKQDLD QLRSIVEKSE LWVYKGQGPD
1160 1170 1180 1190 1200
ETMDGASGEN EHKKTEEGNN KPQKHESTSS YNYRVVKEIL IRLSKLCVQE
1210 1220 1230 1240 1250
SASVRKSRKQ QQRLLRNMGA HAVVLELLQI PYEKAEDTKM QEIMRLAHEF
1260 1270 1280 1290 1300
LQNFCAGNQQ NQALLHKHIN LFLNPGILEA VTMQHIFMNN FQLCSEINER
1310 1320 1330 1340 1350
VVQHFVHCIE THGRNVQYIK FLQTIVKAEG KFIKKCQDMV MAELVNSGED
1360 1370 1380 1390 1400
VLVFYNDRAS FQTLIQMMRS ERDRMDENSP LMYHIHLVEL LAVCTEGKNV
1410 1420 1430 1440 1450
YTEIKCNSLL PLDDIVRVVT HEDCIPEVKI AYINFLNHCY VDTEVEMKEI
1460 1470 1480 1490 1500
YTSNHMWKLF ENFLVDICRA CNNTSDRKHA DSILEKYVTE IVMSIVTTFF
1510 1520 1530 1540 1550
SSPFSDQSTT LQTRQPVFVQ LLQGVFRVYH CNWLMPSQKA SVESCIRVLS
1560 1570 1580 1590 1600
DVAKSRAIAI PVDLDSQVNN LFLKSHSIVQ KTAMNWRLSA RNAARRDSVL
1610 1620 1630 1640 1650
AASRDYRNII ERLQDIVSAL EDRLRPLVQA ELSVLVDVLH RPELLFPENT
1660 1670 1680 1690 1700
DARRKCESGG FICKLIKHTK QLLEENEEKL CIKVLQTLRE MMTKDRGYGE
1710 1720 1730 1740 1750
KLISIDELDN AELPPAPDSE NATEELEPSP PLRQLEDHKR GEALRQVLVN
1760 1770 1780 1790 1800
RYYGNVRPSG RRESLTSFGN GPLSAGGPGK PGGGGGGSGS SSMSRGEMSL
1810 1820 1830 1840 1850
AEVQCHLDKE GASNLVIDLI MNASSDRVFH ESILLAIALL EGGNTTIQHS
1860 1870 1880 1890 1900
FFCRLTEDKK SEKFFKVFYD RMKVAQQEIK ATVTVNTSDL GNKKKDDEVD
1910 1920 1930 1940 1950
RDAPSRKKAK EPTTQITEEV RDQLLEASAA TRKAFTTFRR EADPDDHYQP
1960 1970 1980 1990 2000
GEGTQATADK AKDDLEMSAV ITIMQPILRF LQLLCENHNR DLQNFLRCQN
2010 2020 2030 2040 2050
NKTNYNLVCE TLQFLDCICG STTGGLGLLG LYINEKNVAL INQTLESLTE
2060 2070 2080 2090 2100
YCQGPCHENQ NCIATHESNG IDIITALILN DINPLGKKRM DLVLELKNNA
2110 2120 2130 2140 2150
SKLLLAIMES RHDSENAERI LYNMRPKELV EVIKKAYMQG EVEFEDGENG
2160 2170 2180 2190 2200
EDGAASPRNV GHNIYILAHQ LARHNKELQS MLKPGGQVDG DEALEFYAKH
2210 2220 2230 2240 2250
TAQIEIVRLD RTMEQIVFPV PSICEFLTKE SKLRIYYTTE RDEQGSKIND
2260 2270 2280 2290 2300
FFLRSEDLFN EMNWQKKLRA QPVLYWCARN MSFWSSISFN LAVLMNLLVA
2310 2320 2330 2340 2350
FFYPFKGVRG GTLEPHWSGL LWTAMLISLA IVIALPKPHG IRALIASTIL
2360 2370 2380 2390 2400
RLIFSVGLQP TLFLLGAFNV CNKIIFLMSF VGNCGTFTRG YRAMVLDVEF
2410 2420 2430 2440 2450
LYHLLYLVIC AMGLFVHEFF YSLLLFDLVY REETLLNVIK SVTRNGRSII
2460 2470 2480 2490 2500
LTAVLALILV YLFSIVGYLF FKDDFILEVD RLPNETAVPE TGESLASEFL
2510 2520 2530 2540 2550
FSDVCRVESG ENCSSPAPRE ELVPAEETEQ DKEHTCETLL MCIVTVLSHG
2560 2570 2580 2590 2600
LRSGGGVGDV LRKPSKEEPL FAARVIYDLL FFFMVIIIVL NLIFGVIIDT
2610 2620 2630 2640 2650
FADLRSEKQK KEEILKTTCF ICGLERDKFD NKTVTFEEHI KEEHNMWHYL
2660 2670 2680 2690 2700
CFIVLVKVKD STEYTGPESY VAEMIKERNL DWFPRMRAMS LVSSDSEGEQ
2710 2720 2730 2740 2750
NELRNLQEKL ESTMKLVTNL SGQLSELKDQ MTEQRKQKQR IGLLGHPPHM

NVNPQQPA
Length:2,758
Mass (Da):313,929
Last modified:June 26, 2013 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD29B072252B0D8E7
GO
Isoform 2 (identifier: Q14643-2) [UniParc]FASTAAdd to basket
Also known as: SI-SIIISIIAC

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.

Show »
Length:2,743
Mass (Da):312,163
Checksum:iD0AA6DEC837C28AB
GO
Isoform 3 (identifier: Q14643-3) [UniParc]FASTAAdd to basket
Also known as: SISIII-SII

The sequence of this isoform differs from the canonical sequence as follows:
     919-927: Missing.
     1702-1724: Missing.
     1725-1740: Missing.

Show »
Length:2,710
Mass (Da):308,539
Checksum:iC24313548F4DCBFC
GO
Isoform 4 (identifier: Q14643-4) [UniParc]FASTAAdd to basket
Also known as: SI-SIII-SII

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.
     919-927: Missing.
     1702-1724: Missing.
     1725-1740: Missing.

Show »
Length:2,695
Mass (Da):306,773
Checksum:i92B35C092276D178
GO
Isoform 5 (identifier: Q14643-5) [UniParc]FASTAAdd to basket
Also known as: SI-SIII-SIIAC

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.
     919-927: Missing.

Show »
Length:2,734
Mass (Da):311,135
Checksum:i5D714D3692B19AA3
GO
Isoform 6 (identifier: Q14643-6) [UniParc]FASTAAdd to basket
Also known as: SISIIISIIA

The sequence of this isoform differs from the canonical sequence as follows:
     1725-1740: Missing.

Show »
Length:2,742
Mass (Da):312,003
Checksum:i5FA3417B70F0BFCC
GO
Isoform 7 (identifier: Q14643-7) [UniParc]FASTAAdd to basket
Also known as: SI-SIII-SIIA

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.
     1725-1740: Missing.

Show »
Length:2,727
Mass (Da):310,237
Checksum:i908B9527BD9F6A6A
GO
Isoform 8 (identifier: Q14643-8) [UniParc]FASTAAdd to basket
Also known as: SI-SIII-SIIA

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.
     919-927: Missing.
     1725-1740: Missing.

Show »
Length:2,718
Mass (Da):309,209
Checksum:i74B88CF71437F549
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 17 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7ZMI3B7ZMI3_HUMAN
ITPR1 protein
ITPR1
721Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITM1A0A3B3ITM1_HUMAN
Inositol 1,4,5-trisphosphate recept...
ITPR1
175Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITU8A0A3B3ITU8_HUMAN
Inositol 1,4,5-trisphosphate recept...
ITPR1
2,744Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IU04A0A3B3IU04_HUMAN
Inositol 1,4,5-trisphosphate recept...
ITPR1
2,749Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITQ1A0A3B3ITQ1_HUMAN
Inositol 1,4,5-trisphosphate recept...
ITPR1
2,012Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IU13A0A3B3IU13_HUMAN
Inositol 1,4,5-trisphosphate recept...
ITPR1
1,739Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IU05A0A3B3IU05_HUMAN
Inositol 1,4,5-trisphosphate recept...
ITPR1
1,818Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IRP0A0A3B3IRP0_HUMAN
Inositol 1,4,5-trisphosphate recept...
ITPR1
1,548Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITQ4A0A3B3ITQ4_HUMAN
Inositol 1,4,5-trisphosphate recept...
ITPR1
188Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IRZ9A0A3B3IRZ9_HUMAN
Inositol 1,4,5-trisphosphate recept...
ITPR1
298Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1557 – 1581AIAIP…SIVQK → HCHSRGPGQPSQQPLSQVPQ HCAE in AAD14386 (PubMed:8648241).CuratedAdd BLAST25
Sequence conflicti2302F → L in AAB04947 (PubMed:7852357).Curated1
Sequence conflicti2305F → L in AAB04947 (PubMed:7852357).Curated1
Sequence conflicti2448S → A in U23850 (PubMed:7500840).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069567602N → D in SCA29. 1 PublicationCorresponds to variant dbSNP:rs397514536Ensembl.1
Natural variantiVAR_037005769M → V. Corresponds to variant dbSNP:rs35789999Ensembl.1
Natural variantiVAR_0811671083P → L in SCA15. 1 Publication1
Natural variantiVAR_0370061430I → V. Corresponds to variant dbSNP:rs3749383Ensembl.1
Natural variantiVAR_0695691562V → M in SCA29. 2 PublicationsCorresponds to variant dbSNP:rs397514535Ensembl.1
Natural variantiVAR_0774622109E → Q in GLSP. 1 Publication1
Natural variantiVAR_0774632554G → R in GLSP. 1 PublicationCorresponds to variant dbSNP:rs752281590Ensembl.1
Natural variantiVAR_0774642601F → L in GLSP. 1 PublicationCorresponds to variant dbSNP:rs878853176Ensembl.1
Natural variantiVAR_0774652611Missing in GLSP; alters calcium release of isoform 3. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_002687322 – 336Missing in isoform 2, isoform 4, isoform 5, isoform 7 and isoform 8. 3 PublicationsAdd BLAST15
Alternative sequenceiVSP_002688919 – 927Missing in isoform 3, isoform 4, isoform 5 and isoform 8. 3 Publications9
Alternative sequenceiVSP_0026891702 – 1724Missing in isoform 3 and isoform 4. 3 PublicationsAdd BLAST23
Alternative sequenceiVSP_0026901725 – 1740Missing in isoform 3, isoform 4, isoform 6, isoform 7 and isoform 8. 3 PublicationsAdd BLAST16

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
D26070 mRNA Translation: BAA05065.1
L38019 mRNA Translation: AAB04947.2
U23850 mRNA No translation available.
AC018816 Genomic DNA No translation available.
AC024168 Genomic DNA No translation available.
AC069248 Genomic DNA No translation available.
AC090944 Genomic DNA No translation available.
S82269 mRNA Translation: AAD14386.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS46740.2 [Q14643-3]
CCDS54550.1 [Q14643-4]
CCDS54551.1 [Q14643-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
A55713
S54974

NCBI Reference Sequences

More...
RefSeqi
NP_001093422.2, NM_001099952.2 [Q14643-3]
NP_001161744.1, NM_001168272.1 [Q14643-2]
NP_002213.5, NM_002222.5 [Q14643-4]
XP_011531985.1, XM_011533683.2 [Q14643-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.567295
Hs.715765

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000302640; ENSP00000306253; ENSG00000150995 [Q14643-2]
ENST00000357086; ENSP00000349597; ENSG00000150995 [Q14643-3]
ENST00000443694; ENSP00000401671; ENSG00000150995 [Q14643-2]
ENST00000456211; ENSP00000397885; ENSG00000150995 [Q14643-4]
ENST00000648309; ENSP00000497026; ENSG00000150995 [Q14643-5]
ENST00000649015; ENSP00000497605; ENSG00000150995 [Q14643-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3708

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3708

UCSC genome browser

More...
UCSCi
uc003bqc.3 human [Q14643-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D26070 mRNA Translation: BAA05065.1
L38019 mRNA Translation: AAB04947.2
U23850 mRNA No translation available.
AC018816 Genomic DNA No translation available.
AC024168 Genomic DNA No translation available.
AC069248 Genomic DNA No translation available.
AC090944 Genomic DNA No translation available.
S82269 mRNA Translation: AAD14386.1
CCDSiCCDS46740.2 [Q14643-3]
CCDS54550.1 [Q14643-4]
CCDS54551.1 [Q14643-2]
PIRiA55713
S54974
RefSeqiNP_001093422.2, NM_001099952.2 [Q14643-3]
NP_001161744.1, NM_001168272.1 [Q14643-2]
NP_002213.5, NM_002222.5 [Q14643-4]
XP_011531985.1, XM_011533683.2 [Q14643-1]
UniGeneiHs.567295
Hs.715765

3D structure databases

ProteinModelPortaliQ14643
SMRiQ14643
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109913, 52 interactors
CORUMiQ14643
DIPiDIP-29714N
ELMiQ14643
IntActiQ14643, 23 interactors
STRINGi9606.ENSP00000306253

Chemistry databases

BindingDBiQ14643
ChEMBLiCHEMBL4046
DrugBankiDB00201 Caffeine
DB04077 Glycerol
GuidetoPHARMACOLOGYi743

Protein family/group databases

TCDBi1.A.3.2.6 the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family

PTM databases

GlyConnecti1399
iPTMnetiQ14643
PhosphoSitePlusiQ14643
SwissPalmiQ14643

Polymorphism and mutation databases

BioMutaiITPR1
DMDMi519668682

Proteomic databases

EPDiQ14643
jPOSTiQ14643
MaxQBiQ14643
PaxDbiQ14643
PeptideAtlasiQ14643
PRIDEiQ14643
ProteomicsDBi60081
60082 [Q14643-2]
60083 [Q14643-3]
60084 [Q14643-4]
60085 [Q14643-5]
60086 [Q14643-6]
60087 [Q14643-7]
60088 [Q14643-8]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302640; ENSP00000306253; ENSG00000150995 [Q14643-2]
ENST00000357086; ENSP00000349597; ENSG00000150995 [Q14643-3]
ENST00000443694; ENSP00000401671; ENSG00000150995 [Q14643-2]
ENST00000456211; ENSP00000397885; ENSG00000150995 [Q14643-4]
ENST00000648309; ENSP00000497026; ENSG00000150995 [Q14643-5]
ENST00000649015; ENSP00000497605; ENSG00000150995 [Q14643-1]
GeneIDi3708
KEGGihsa:3708
UCSCiuc003bqc.3 human [Q14643-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3708
DisGeNETi3708
EuPathDBiHostDB:ENSG00000150995.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ITPR1
GeneReviewsiITPR1
HGNCiHGNC:6180 ITPR1
HPAiHPA014765
HPA016487
MalaCardsiITPR1
MIMi117360 phenotype
147265 gene
206700 phenotype
606658 phenotype
neXtProtiNX_Q14643
OpenTargetsiENSG00000150995
Orphaneti1065 Aniridia-cerebellar ataxia-intellectual disability syndrome
98769 Spinocerebellar ataxia type 15/16
208513 Spinocerebellar ataxia type 29
PharmGKBiPA29978

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3533 Eukaryota
ENOG410XR97 LUCA
GeneTreeiENSGT00940000155071
HOGENOMiHOG000007660
HOVERGENiHBG052158
InParanoidiQ14643
KOiK04958
OMAiPRHAPYK
OrthoDBi94996at2759
PhylomeDBiQ14643
TreeFamiTF312815

Enzyme and pathway databases

ReactomeiR-HSA-112043 PLC beta mediated events
R-HSA-114508 Effects of PIP2 hydrolysis
R-HSA-139853 Elevation of cytosolic Ca2+ levels
R-HSA-1489509 DAG and IP3 signaling
R-HSA-2029485 Role of phospholipids in phagocytosis
R-HSA-2871809 FCERI mediated Ca+2 mobilization
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-4086398 Ca2+ pathway
R-HSA-418457 cGMP effects
R-HSA-422356 Regulation of insulin secretion
R-HSA-5218921 VEGFR2 mediated cell proliferation
R-HSA-5578775 Ion homeostasis
R-HSA-5607763 CLEC7A (Dectin-1) induces NFAT activation
R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
SignaLinkiQ14643
SIGNORiQ14643

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ITPR1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ITPR1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
3708

Protein Ontology

More...
PROi
PR:Q14643

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000150995 Expressed in 227 organ(s), highest expression level in cauda epididymis
CleanExiHS_ITPR1
ExpressionAtlasiQ14643 baseline and differential
GenevisibleiQ14643 HS

Family and domain databases

InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR014821 Ins145_P3_rcpt
IPR000493 InsP3_rcpt
IPR005821 Ion_trans_dom
IPR036300 MIR_dom_sf
IPR016093 MIR_motif
IPR013662 RIH_assoc-dom
IPR000699 RIH_dom
IPR015925 Ryanodine_recept-rel
IPR035910 RyR/IP3R_RIH_dom_sf
PANTHERiPTHR13715 PTHR13715, 1 hit
PfamiView protein in Pfam
PF08709 Ins145_P3_rec, 1 hit
PF00520 Ion_trans, 1 hit
PF02815 MIR, 1 hit
PF08454 RIH_assoc, 1 hit
PF01365 RYDR_ITPR, 2 hits
PRINTSiPR00779 INSP3RECEPTR
SMARTiView protein in SMART
SM00472 MIR, 4 hits
SUPFAMiSSF100909 SSF100909, 2 hits
SSF48371 SSF48371, 1 hit
SSF82109 SSF82109, 2 hits
PROSITEiView protein in PROSITE
PS50919 MIR, 5 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiITPR1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q14643
Secondary accession number(s): E7EPX7
, E9PDE9, Q14660, Q99897
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 2, 2001
Last sequence update: June 26, 2013
Last modified: January 16, 2019
This is version 210 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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