Gene: ITPR1

Alternate names for this Gene: ACV|CLA4|INSP3R1|IP3R|IP3R1|PPP1R94|SCA15|SCA16|SCA29

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

Gene is located in Chromosome: 3

Location in Chromosome : 3p26.1

Description of this Gene: inositol 1,4,5-trisphosphate receptor type 1

Type of Gene: protein-coding

rs72997390 in ITPR1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6762644 in ITPR1 gene and Breast Carcinoma PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

PMID 25751625 2015 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

rs304029 in ITPR1 gene and Diabetic Nephropathy PMID 26305897 2015 Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND).

rs1553654413 in ITPR1 gene and Generalized hypotonia PMID 29663667 2018 A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

rs1553654413 in ITPR1 gene and Gillespie syndrome PMID 29663667 2018 A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

PMID 29169895 2018 Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.

PMID 29925855 2018 De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.

PMID 27108797 2016 Using a combination of trio-based whole-exome sequencing and Sanger sequencing in five simplex GS-affected families, we found homozygous or compound heterozygous truncating mutations (c.4672C>T [p.Gln1558(∗)], c.2182C>T [p.Arg728(∗)], c.6366+3A>T [p.Gly2102Valfs5(∗)], and c.6664+5G>T [p.Ala2221Valfs23(∗)]) and de novo heterozygous mutations (c.7687_7689del [p.Lys2563del] and c.7659T>G [p.Phe2553Leu]) in the inositol 1,4,5-trisphosphate receptor type 1 gene (ITPR1).

PMID 27108798 2016 A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

PMID 27062503 2017 Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

rs6762644 in ITPR1 gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs1553654413 in ITPR1 gene and Moderate intellectual disability PMID 29663667 2018 A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

rs1553666546 in ITPR1 gene and Movement Disorders PMID 18579805 2008 Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.

PMID 21367767 2011 Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.

PMID 27108798 2016 A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

PMID 17590087 2007 Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

PMID 25574826 2015 CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

PMID 14981189 2004 Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.

PMID 23495097 2013 Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15.

PMID 28488678 2017 A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

PMID 26770814 2016 ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.

PMID 17030759 2006 The contactin 4 gene locus at 3p26 is a candidate gene of SCA16.

PMID 25794864 2015 Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

PMID 22986007 2012 Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

PMID 12611586 2003 Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1.

PMID 11445634 2001 A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

rs886039392 in ITPR1 gene and Multiple congenital anomalies PMID 28488678 2017 A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

PMID 21367767 2011 Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.

PMID 23495097 2013 Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15.

PMID 27108798 2016 A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

PMID 25574826 2015 CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

PMID 18579805 2008 Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.

PMID 25794864 2015 Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

PMID 11445634 2001 A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

PMID 22986007 2012 Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

PMID 17030759 2006 The contactin 4 gene locus at 3p26 is a candidate gene of SCA16.

PMID 26770814 2016 ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.

PMID 12611586 2003 Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1.

PMID 17590087 2007 Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

PMID 14981189 2004 Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.

rs1553666546 in ITPR1 gene and Muscle hypotonia PMID 11445634 2001 A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

PMID 23495097 2013 Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15.

PMID 17030759 2006 The contactin 4 gene locus at 3p26 is a candidate gene of SCA16.

PMID 21367767 2011 Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.

PMID 28488678 2017 A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

PMID 14981189 2004 Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.

PMID 18579805 2008 Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.

PMID 27108798 2016 A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

PMID 25574826 2015 CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

PMID 26770814 2016 ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.

PMID 25794864 2015 Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

PMID 22986007 2012 Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

PMID 17590087 2007 Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

PMID 12611586 2003 Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1.

rs1553654413 in ITPR1 gene and Nonprogressive cerebellar ataxia PMID 29663667 2018 A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

rs4684433 in ITPR1 gene and Plexiform leiomyoma PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

rs7632000 in ITPR1 gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs121912425 in ITPR1 gene and SPINOCEREBELLAR ATAXIA 15 PMID 18579805 2008 Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.

PMID 17590087 2007 Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 27062503 2017 Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

rs1322796318 in ITPR1 gene and SPINOCEREBELLAR ATAXIA 29 PMID 29925855 2018 De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.

PMID 22986007 2012 Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

PMID 26770814 2016 ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

PMID 28659154 2017 Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.

PMID 27062503 2017 Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

rs7632000 in ITPR1 gene and Soluble Interleukin 6 Receptor Measurement PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs4684433 in ITPR1 gene and Uterine Fibroids PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

rs6786081 in ITPR1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.