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Aliases for ITPR1 Gene

Aliases for ITPR1 Gene

  • Inositol 1,4,5-Trisphosphate Receptor, Type 1 2 3
  • Type 1 Inositol 1,4,5-Trisphosphate Receptor 3 4
  • Type 1 InsP3 Receptor 3 4
  • INSP3R1 3 4
  • IP3R 1 3 4
  • SCA15 3 6
  • SCA16 3 6
  • SCA29 3 6
  • Inositol 1,4,5-Triphosphate Receptor, Type 1 3
  • Inositol 1,4,5-Trisphosphate Receptor Type 1 3
  • Protein Phosphatase 1, Regulatory Subunit 94 3
  • Spinocerebellar Ataxia 15 2
  • Spinocerebellar Ataxia 16 2
  • Spinocerebellar Ataxia 29 2
  • IP3 Receptor Isoform 1 4
  • Protein Phosphatase 1 2
  • Regulatory Subunit 94 2
  • IP3 Receptor 3
  • PPP1R94 3
  • IP3R1 3
  • CLA4 3
  • IP3R 3
  • ACV 3

External Ids for ITPR1 Gene

Previous Symbols for ITPR1 Gene

  • SCA15
  • SCA16
  • SCA29

Summaries for ITPR1 Gene

Entrez Gene Summary for ITPR1 Gene

  • 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]

GeneCards Summary for ITPR1 Gene

ITPR1 (Inositol 1,4,5-Trisphosphate Receptor, Type 1) is a Protein Coding gene. Diseases associated with ITPR1 include spinocerebellar ataxia 15 and spinocerebellar ataxia type15. Among its related pathways are PI-3K cascade and Signaling by FGFR. GO annotations related to this gene include phosphatidylinositol binding and intracellular ligand-gated calcium channel activity. An important paralog of this gene is RYR1.

UniProtKB/Swiss-Prot for ITPR1 Gene

  • Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate. 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).

Tocris Summary for ITPR1 Gene

  • Inositol 1,4,5-triphosphate (IP3) receptors are a form of ligand-gated ion channels that are activated by cytosolic Ca2+ and IP3. They are localized to intracellular membranes, such as the endoplasmic reticulum, and mediate the mobilization of intracellular Ca2+ stores. IP3 receptors play an important role in intracellular Ca2+ signaling in a variety of cell types. There are three IP3 receptor subtypes; IP3R1, IP3R2 and IP3R3, which exist as homo- and heterotetramers. All subtypes are closely associated with calmodulin and FK506-binding protein and are modulated through phosphorylation by PKA, PKC, PKG and CaMKII.

Gene Wiki entry for ITPR1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITPR1 Gene

Genomics for ITPR1 Gene

Genomic Location for ITPR1 Gene

Start:
4,493,348 bp from pter
End:
4,847,840 bp from pter
Size:
354,493 bases
Orientation:
Plus strand

Genomic View for ITPR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ITPR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITPR1 Gene

Regulatory Elements for ITPR1 Gene

Proteins for ITPR1 Gene

  • Protein details for ITPR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14643-ITPR1_HUMAN
    Recommended name:
    Inositol 1,4,5-trisphosphate receptor type 1
    Protein Accession:
    Q14643
    Secondary Accessions:
    • E7EPX7
    • E9PDE9
    • Q14660
    • Q99897

    Protein attributes for ITPR1 Gene

    Size:
    2758 amino acids
    Molecular mass:
    313929 Da
    Quaternary structure:
    • 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 AHCYL1 (By similarity). Interacts with MRVI1 and CABP1 (via N-terminus). Interacts with TESPA1.
    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

    Alternative splice isoforms for ITPR1 Gene

neXtProt entry for ITPR1 Gene

Proteomics data for ITPR1 Gene at MOPED

Post-translational modifications for ITPR1 Gene

  • Phosphorylated by cAMP kinase. Phosphorylation prevents the ligand-induced opening of the calcium channels (By similarity).
  • Phosphorylated on tyrosine residues.
  • 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).
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys917, Lys972, Lys1581, Lys1780, Lys1893, Lys1894, Lys1895, Lys1910, Lys1933, Lys2127, and Lys2266
  • Glycosylation at Asn2512

Other Protein References for ITPR1 Gene

No data available for DME Specific Peptides for ITPR1 Gene

Domains for ITPR1 Gene

Gene Families for ITPR1 Gene

HGNC:
  • ITPR :Ion channels / Inositol triphosphate receptors
IUPHAR :

UniProtKB/Swiss-Prot:

ITPR1_HUMAN
Domain:
  • 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:
    • Q14643
  • Contains 5 MIR domains.:
    • Q14643
Family:
  • Belongs to the InsP3 receptor family.:
    • Q14643
genes like me logo Genes that share domains with ITPR1: view

Function for ITPR1 Gene

Molecular function for ITPR1 Gene

GENATLAS Biochemistry: inositol 1,4,5-triphosphate receptor,type 1,coexpressed with RYR3 in neurons and smooth muscle cells forming heterotetrameric channel with ITPR2 and ITPR3,involved in Ca++ mobilization from the endoplastic reticulum,highly sensitive to ATP mediating less regular Ca++ oscillations,in T lymphocyte
UniProtKB/Swiss-Prot Function: Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate. 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).

Gene Ontology (GO) - Molecular Function for ITPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005218 intracellular ligand-gated calcium channel activity ISS --
GO:0005220 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity TAS 8648241
GO:0005262 calcium channel activity --
GO:0005515 protein binding IPI 16793548
genes like me logo Genes that share ontologies with ITPR1: view
genes like me logo Genes that share phenotypes with ITPR1: view

Animal Models for ITPR1 Gene

MGI Knock Outs for ITPR1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ITPR1 Gene

Localization for ITPR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITPR1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITPR1 Gene COMPARTMENTS Subcellular localization image for ITPR1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 2
nucleus 2
cytoskeleton 1
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for ITPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope --
GO:0005637 nuclear inner membrane IEA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm --
GO:0005783 endoplasmic reticulum NAS 8648241
genes like me logo Genes that share ontologies with ITPR1: view

Pathways for ITPR1 Gene

SuperPathways for ITPR1 Gene

Superpath Contained pathways
1 Signaling by FGFR
2 Ca-dependent events
3 Development Angiotensin activation of ERK
4 fMLP Pathway
5 Development Endothelin-1/EDNRA signaling
genes like me logo Genes that share pathways with ITPR1: view

Gene Ontology (GO) - Biological Process for ITPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 19120137
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0006112 energy reserve metabolic process TAS --
GO:0006811 ion transport --
GO:0006816 calcium ion transport NAS 7852357
genes like me logo Genes that share ontologies with ITPR1: view

Compounds for ITPR1 Gene

(2) Tocris Compounds for ITPR1 Gene

Compound Action Cas Number
(-)-Xestospongin C Inhibits IP3-mediated Ca2+ release [88903-69-9]
2-APB IP3 receptor antagonist. Also TRP channel modulator [524-95-8]

(3) HMDB Compounds for ITPR1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Cyclic AMP
  • Cyclic AMP
60-92-4
Inositol 1,4,5-trisphosphate
  • 1D-myo-Inositol 1,4,5-trisphosphate
88269-39-0

(2) Drugbank Compounds for ITPR1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
D-Myo-Inositol-1,4,5-Triphosphate
target
Glycerol
target

(10) IUPHAR Ligand for ITPR1 Gene

Ligand Type Action Affinity Pubmed IDs
PIP2 Activator Agonist 5.3
ATP Activator None
IP3 Activator None
xestospongin C Antagonist Antagonist
caffeine Activator None
adenophostin A Activator None
Ca2+ Antagonist Antagonist
decavanadate Activator None
Ins(2,4,5)P3 Activator None
heparin Antagonist Antagonist

(41) Novoseek inferred chemical compound relationships for ITPR1 Gene

Compound -log(P) Hits PubMed IDs
inositol 1,4,5 trisphosphate 95.7 122
ryanodine 82.9 33
calcium 77.4 205
p-mca 63.4 1
inositol 63.2 11
genes like me logo Genes that share compounds with ITPR1: view

Transcripts for ITPR1 Gene

Unigene Clusters for ITPR1 Gene

Inositol 1,4,5-trisphosphate receptor, type 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ITPR1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34 ^ 35a · 35b ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^ 41 ^ 42a · 42b ^ 43a ·
SP1: - - - - -
SP2: - - - -
SP3:
SP4:
SP5:
SP6:
SP7: - -
SP8:
SP9:
SP10:

ExUns: 43b ^ 44a · 44b · 44c ^ 45 ^ 46a · 46b ^ 47a · 47b
SP1: - -
SP2:
SP3:
SP4:
SP5: -
SP6: -
SP7:
SP8:
SP9: -
SP10:

Relevant External Links for ITPR1 Gene

GeneLoc Exon Structure for
ITPR1
ECgene alternative splicing isoforms for
ITPR1

Expression for ITPR1 Gene

mRNA expression in normal human tissues for ITPR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ITPR1 Gene

SOURCE GeneReport for Unigene cluster for ITPR1 Gene Hs.567295

mRNA Expression by UniProt/SwissProt for ITPR1 Gene

Q14643-ITPR1_HUMAN
Tissue specificity: Widely expressed
genes like me logo Genes that share expressions with ITPR1: view

Orthologs for ITPR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITPR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITPR1 36
  • 99.19 (n)
  • 99.71 (a)
ITPR1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ITPR1 36
  • 90.36 (n)
  • 98.11 (a)
ITPR1 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITPR1 36
  • 91.92 (n)
  • 98.61 (a)
ITPR1 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itpr1 36
  • 89.66 (n)
  • 98.65 (a)
Itpr1 16
Itpr1 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ITPR1 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 70 (a)
OneToMany
-- 37
  • 83 (a)
OneToMany
-- 37
  • 84 (a)
OneToMany
-- 37
  • 93 (a)
OneToMany
-- 37
  • 95 (a)
OneToMany
-- 37
  • 98 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Itpr1 36
  • 89.66 (n)
  • 98.61 (a)
chicken
(Gallus gallus)
Aves ITPR1 36
  • 82.26 (n)
  • 95.66 (a)
ITPR1 37
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITPR1 37
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itpr1 36
  • 76.03 (n)
  • 89.7 (a)
zebrafish
(Danio rerio)
Actinopterygii itpr1 36
  • 76.09 (n)
  • 87.38 (a)
ITPR1 (2 of 2) 37
  • 85 (a)
OneToMany
itpr1a 37
  • 81 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006475 36
  • 61.06 (n)
  • 61.68 (a)
fruit fly
(Drosophila melanogaster)
Insecta Itp-r83A 36
  • 61.27 (n)
  • 62.3 (a)
Itp-r83A 37
  • 57 (a)
OneToMany
Itp-r83A 38
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea itr-1 36
  • 50.82 (n)
  • 44.83 (a)
itr-1 37
  • 38 (a)
OneToMany
itr-1 38
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 56 (a)
OneToMany
Species with no ortholog for ITPR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ITPR1 Gene

ENSEMBL:
Gene Tree for ITPR1 (if available)
TreeFam:
Gene Tree for ITPR1 (if available)

Paralogs for ITPR1 Gene

Paralogs for ITPR1 Gene

Selected SIMAP similar genes for ITPR1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ITPR1: view

Variants for ITPR1 Gene

Sequence variations from dbSNP and Humsavar for ITPR1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs78384 -- 4,527,062(-) AATAG(A/G)TGCGC intron-variant
rs177440 -- 4,544,926(+) GTAGC(C/T)GGGAC intron-variant
rs177441 -- 4,495,451(-) CTCCT(A/G)AGGAT intron-variant
rs184231 -- 4,541,342(+) TTTAG(A/G)TGACA intron-variant
rs184232 -- 4,511,497(+) TGCTT(C/G)CACCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ITPR1 Gene

Variant ID Type Subtype PubMed ID
nsv876467 CNV Gain 21882294
esv2422450 CNV Deletion 17116639
nsv834605 CNV Gain 17160897
nsv876468 CNV Loss 21882294
nsv876469 CNV Loss 21882294
nsv518121 CNV Loss 19592680
nsv517614 CNV Loss 19592680
esv2724826 CNV Deletion 23290073
esv2662691 CNV Deletion 23128226
nsv520447 CNV Loss 19592680
nsv876470 CNV Gain 21882294
esv2724827 CNV Deletion 23290073
esv2724829 CNV Deletion 23290073
nsv460357 CNV Loss 19166990
dgv593n27 CNV Loss 19166990
nsv3682 CNV Insertion 18451855
esv2724830 CNV Deletion 23290073
esv2346022 CNV Deletion 18987734
esv987725 CNV Deletion 20482838
esv2724831 CNV Deletion 23290073
esv1521656 CNV Deletion 17803354
nsv470010 CNV Gain 18288195
nsv460360 CNV Gain 19166990
nsv834606 CNV Loss 17160897

Relevant External Links for ITPR1 Gene

HapMap Linkage Disequilibrium report
ITPR1
Human Gene Mutation Database (HGMD)
ITPR1

Disorders for ITPR1 Gene

(2) OMIM Diseases for ITPR1 Gene (147265)

UniProtKB/Swiss-Prot

ITPR1_HUMAN
  • Spinocerebellar ataxia 15 (SCA15) [MIM:606658]: Spinocerebellar 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. {ECO:0000269 PubMed:17590087, ECO:0000269 PubMed:18579805}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinocerebellar ataxia 29 (SCA29) [MIM:117360]: An 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. {ECO:0000269 PubMed:22986007}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ITPR1 Gene

(9) Novoseek inferred disease relationships for ITPR1 Gene

Disease -log(P) Hits PubMed IDs
sca15 89.6 12
malignant ascites 31.5 2
cerebral ischemia 5.83 3
necrosis 3.53 1
tumors 0.701 2

Relevant External Links for ITPR1

GeneTests
ITPR1
GeneReviews
ITPR1
Genetic Association Database (GAD)
ITPR1
Human Genome Epidemiology (HuGE) Navigator
ITPR1
genes like me logo Genes that share disorders with ITPR1: view

Publications for ITPR1 Gene

  1. Human inositol 1,4,5-trisphosphate type-1 receptor, InsP3R1: structure, function, regulation of expression and chromosomal localization. (PMID: 7945203) Yamada N. … Mikoshiba K. (Biochem. J. 1994) 2 3 4 23
  2. 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. (PMID: 7500840) Nucifora F.C. Jr. … Ross C.A. (Brain Res. Mol. Brain Res. 1995) 2 3 4 23
  3. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. (PMID: 17590087) van de Leemput J. … Singleton A.B. (PLoS Genet. 2007) 2 3 4 23
  4. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. (PMID: 18579805) Hara K. … Onodera O. (Neurology 2008) 3 4 23
  5. The human type 1 inositol 1,4,5-trisphosphate receptor from T lymphocytes. Structure, localization, and tyrosine phosphorylation. (PMID: 7852357) Harnick D.J. … Marks A.R. (J. Biol. Chem. 1995) 3 4 23

Products for ITPR1 Gene

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