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Aliases for ITPR1 Gene

Aliases for ITPR1 Gene

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

External Ids for ITPR1 Gene

Previous HGNC Symbols for ITPR1 Gene

  • SCA15
  • SCA16
  • SCA29

Previous GeneCards Identifiers for ITPR1 Gene

  • GC03P004463
  • GC03P004510

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 29 and Gillespie Syndrome. Among its related pathways are G-protein signaling N-RAS regulation pathway and Salivary secretion. Gene Ontology (GO) annotations related to this gene include ion channel activity and calcium channel activity. An important paralog of this gene is ITPR2.

UniProtKB/Swiss-Prot for ITPR1 Gene

  • 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).

Tocris Summary for ITPR1 Gene

  • Inositol 1,4,5-trisphosphate (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.

Gene Wiki entry for ITPR1 Gene

Additional gene information for ITPR1 Gene

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

Genomics for ITPR1 Gene

GeneHancer (GH) Regulatory Elements for ITPR1 Gene

Promoters and enhancers for ITPR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I004491 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 569.6 +0.8 813 5 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 MEF2D ZNF610 ITPR1 ITPR1-AS1 SUMF1 SETMAR EDEM1 LOC105376933
GH03I004502 Enhancer 1.4 Ensembl ENCODE dbSUPER 18.7 +12.1 12061 5.9 HDGF PKNOX1 SMAD1 ARNT FEZF1 IRF4 ZNF213 ZNF207 ZNF143 JUNB ITPR1 SETMAR LOC105376933
GH03I004474 Enhancer 1.4 FANTOM5 Ensembl ENCODE 16 -18.5 -18515 1.7 HDGF ATF1 FEZF1 YY1 ZNF766 ATF7 RUNX3 YY2 ZNF488 ZNF518A ITPR1 EDEM1 SUMF1 ITPR1-AS1
GH03I004416 Enhancer 0.9 ENCODE dbSUPER 21.3 -75.5 -75506 2.9 BCOR CTCF PKNOX1 ZMYM3 CTBP1 BRD9 POLR2A RCOR1 FOS FOSL2 ITPR1 ITPR1-AS1 MRPS10P2 SUMF1
GH03I004515 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 14.3 +24.7 24683 5.9 MEIS2 PKNOX1 CEBPB MZF1 EBF1 ZSCAN5C IKZF1 PRDM10 SPI1 ITPR1 BHLHE40 LOC105376933
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ITPR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ITPR1 gene promoter:

Genomic Locations for ITPR1 Gene

Genomic Locations for ITPR1 Gene
chr3:4,493,348-4,847,840
(GRCh38/hg38)
Size:
354,493 bases
Orientation:
Plus strand
chr3:4,535,032-4,889,524
(GRCh37/hg19)

Genomic View for ITPR1 Gene

Genes around ITPR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITPR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITPR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 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).
    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

Post-translational modifications for ITPR1 Gene

  • Palmitoylated by ZDHHC6 in immune cells, leading to regulate ITPR1 stability and function.
  • 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.
  • 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).
  • Ubiquitination at posLast=917917, posLast=972972, posLast=15811581, posLast=17801780, isoforms=2, 3, 4, 5, 6, 7, 81893, isoforms=2, 3, 4, 5, 6, 7, 81894, posLast=18951895, posLast=19101910, posLast=19331933, posLast=21272127, and isoforms=2, 3, 4, 5, 6, 7, 82266
  • Glycosylation at posLast=25122512
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ITPR1 Gene

Domains & Families for ITPR1 Gene

Gene Families for ITPR1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for ITPR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14643

UniProtKB/Swiss-Prot:

ITPR1_HUMAN :
  • 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.
  • Belongs to the InsP3 receptor family.
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.
Family:
  • Belongs to the InsP3 receptor family.
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 (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).

Phenotypes From GWAS Catalog for ITPR1 Gene

Gene Ontology (GO) - Molecular Function for ITPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005220 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IEA,TAS 8648241
GO:0005262 calcium channel activity IEA --
GO:0005509 calcium ion binding IBA --
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

Human Phenotype Ontology for ITPR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITPR1 Gene

MGI Knock Outs for ITPR1:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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. Cytoplasmic vesicle, secretory vesicle membrane; Multi-pass membrane protein. Cytoplasm, perinuclear region. Note=Endoplasmic reticulum and secretory granules (By similarity). {ECO:0000250 UniProtKB:Q9TU34}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITPR1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
nucleus 3
cytoskeleton 2
mitochondrion 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ITPR1 Gene

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

Pathways & Interactions for ITPR1 Gene

SuperPathways for ITPR1 Gene

SuperPathway Contained pathways
1 RET signaling
2 DAG and IP3 signaling
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

SIGNOR curated interactions for ITPR1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ITPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 19120137
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA,NAS 7852357
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with ITPR1: view

Drugs & Compounds for ITPR1 Gene

(39) Drugs for ITPR1 Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Caffeine Approved Nutra Antagonist, Target, antagonist 434
Heparin Approved, Investigational Pharma Antagonist, cofactor 905,282
Glycerol Approved, Investigational Pharma Target 175
calcium Approved Nutra 0
Cafcit Injection Approved September 1999 Pharma 0

(17) Additional Compounds for ITPR1 Gene - From: HMDB, IUPHAR, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ins(2,4,5)P<sub>3</sub>
Activator
Inositol 1,4,5-trisphosphate
  • 1D-Myo-Inositol 1,4,5-trisphosphate
  • D-Myo-Inositol 1,4,5-trisphosphate
  • Inositol 1,4,5-trisphosphate
88269-39-0

(1) Tocris Compounds for ITPR1 Gene

Compound Action Cas Number
2-APB IP3 receptor antagonist. Also TRP channel modulator 524-95-8

(1) ApexBio Compounds for ITPR1 Gene

Compound Action Cas Number
D-myo-Inositol-1,3,4,5-tetrakisphosphate, octapotassium salt 145843-69-2
genes like me logo Genes that share compounds with ITPR1: view

Drug Products

Transcripts for ITPR1 Gene

Unigene Clusters for ITPR1 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for ITPR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ITPR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.5), Urine (7.5), Lavage (6.5), and Colon muscle (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ITPR1 Gene



Protein tissue co-expression partners for ITPR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ITPR1 Gene:

ITPR1

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.

Evidence on tissue expression from TISSUES for ITPR1 Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Blood(4.6)
  • Spleen(4.3)
  • Lymph node(4.2)
  • Heart(2.6)
  • Eye(2.5)
  • Muscle(2.5)
  • Kidney(2.4)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ITPR1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ITPR1: view

No data available for mRNA differential expression in normal tissues for ITPR1 Gene

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 33 34
  • 99.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 98 (a)
OneToMany
-- 34
  • 95 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ITPR1 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITPR1 33 34
  • 91.92 (n)
cow
(Bos Taurus)
Mammalia ITPR1 33 34
  • 90.36 (n)
mouse
(Mus musculus)
Mammalia Itpr1 33 16 34
  • 89.66 (n)
rat
(Rattus norvegicus)
Mammalia Itpr1 33
  • 89.66 (n)
chicken
(Gallus gallus)
Aves ITPR1 33 34
  • 82.26 (n)
lizard
(Anolis carolinensis)
Reptilia ITPR1 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itpr1 33
  • 76.03 (n)
zebrafish
(Danio rerio)
Actinopterygii ITPR1 (2 of 2) 34
  • 85 (a)
OneToMany
itpr1a 34
  • 81 (a)
OneToMany
itpr1 33
  • 76.09 (n)
fruit fly
(Drosophila melanogaster)
Insecta Itp-r83A 35 33 34
  • 61.27 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006475 33
  • 61.06 (n)
worm
(Caenorhabditis elegans)
Secernentea itr-1 35 33 34
  • 50.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 56 (a)
OneToMany
Species where no ortholog for ITPR1 was found in the sources mined by GeneCards:
  • 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

(2) 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 Variation AA Info Type
rs1009052439 uncertain-significance, Spinocerebellar Ataxia, Dominant 4,645,692(+) A/G/T coding_sequence_variant, synonymous_variant
rs1012487420 uncertain-significance, Spinocerebellar Ataxia, Dominant 4,710,408(+) C/T coding_sequence_variant, synonymous_variant
rs1051405416 uncertain-significance, Spinocerebellar Ataxia, Dominant 4,493,555(+) C/A 5_prime_UTR_variant
rs1085308010 likely-pathogenic, uncertain-significance, not provided, not specified 4,645,604(+) A/G coding_sequence_variant, missense_variant
rs112944532 uncertain-significance, Spinocerebellar Ataxia, Dominant 4,516,557(+) G/A/T coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
dgv593n27 CNV loss 19166990
esv1521656 CNV deletion 17803354
esv2346022 CNV deletion 18987734
esv2422450 CNV deletion 17116639
esv2662691 CNV deletion 23128226
esv2724826 CNV deletion 23290073
esv2724827 CNV deletion 23290073
esv2724829 CNV deletion 23290073
esv2724830 CNV deletion 23290073
esv2724831 CNV deletion 23290073
esv2763737 CNV loss 21179565
esv3383482 CNV insertion 20981092
esv3444561 CNV duplication 20981092
esv3595106 CNV loss 21293372
esv3595107 CNV gain 21293372
esv3595108 CNV loss 21293372
esv3595109 CNV loss 21293372
esv3893643 CNV loss 25118596
esv987725 CNV deletion 20482838
nsv1005718 CNV gain 25217958
nsv1109488 CNV deletion 24896259
nsv1139083 CNV deletion 24896259
nsv3682 CNV insertion 18451855
nsv460357 CNV loss 19166990
nsv460360 CNV gain 19166990
nsv470010 CNV gain 18288195
nsv477513 CNV novel sequence insertion 20440878
nsv477905 CNV novel sequence insertion 20440878
nsv517614 CNV loss 19592680
nsv518121 CNV loss 19592680
nsv520447 CNV loss 19592680
nsv589453 CNV loss 21841781
nsv589454 CNV loss 21841781
nsv589455 CNV loss 21841781
nsv589456 CNV gain 21841781
nsv589457 CNV gain 21841781
nsv834605 CNV gain 17160897
nsv834606 CNV loss 17160897

Variation tolerance for ITPR1 Gene

Residual Variation Intolerance Score: 0.139% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.26; 52.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITPR1 Gene

Human Gene Mutation Database (HGMD)
ITPR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITPR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITPR1 Gene

Disorders for ITPR1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for ITPR1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ITPR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITPR1_HUMAN
  • Gillespie syndrome (GLSP) [MIM:206700]: A rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and mental retardation. {ECO:0000269 PubMed:27108797, ECO:0000269 PubMed:27108798}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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, ECO:0000269 PubMed:26770814}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ITPR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ITPR1: view

No data available for Genatlas for ITPR1 Gene

Publications for ITPR1 Gene

  1. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. (PMID: 17590087) van de Leemput J … Singleton AB (PLoS genetics 2007) 2 3 4 22 58
  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 FC … Ross CA (Brain research. Molecular brain research 1995) 2 3 4 22 58
  3. Human inositol 1,4,5-trisphosphate type-1 receptor, InsP3R1: structure, function, regulation of expression and chromosomal localization. (PMID: 7945203) Yamada N … Furuichi T (The Biochemical journal 1994) 2 3 4 22 58
  4. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. (PMID: 22986007) Huang L … Boycott KM (Orphanet journal of rare diseases 2012) 2 3 4 58
  5. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. (PMID: 18579805) Hara K … Onodera O (Neurology 2008) 3 4 22 58

Products for ITPR1 Gene

Sources for ITPR1 Gene