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Gene

ITPR1

inositol 1,4,5-trisphosphate receptor type 1

Summary

Cytogenetic location
3p26.1
Coordinates
Chromosome 3: 4,493,348–4,847,506 (GRCh38)
Exons
62 exons across 354.2 kb
Protein
2,758 amino acids
Inheritance
Autosomal dominant
Also known as
Insp3r1, IP3R1, ACV, PPP1R94
Previous symbols
SCA15, SCA16, SCA29
MANE Select transcript
ENST00000649015.2NM_001378452.1
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & Aniridia

    • Anterior Segment Dysgenesis

      A group of developmental conditions of the front of the eye, including Peters anomaly, caused by changes in genes such as FOXC1, PITX3, FOXE3, CYP1B1 and CPAMD8.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      There is a high lifetime risk of glaucoma, so regular eye-pressure monitoring is recommended.

  • Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)

    • Autosomal Dominant Cerebellar AtaxiaAutosomal dominant

      A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How ITPR1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where ITPR1 sits. ITPR1 and 5 genes near it on chromosome 3, from 4,139,189 to 5,201,665.Chromosome 33p26.1p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q294.2 Mb4.4 Mb4.6 Mb4.8 Mb5 Mb5.2 MbSUMF1: 3,700,814–4,467,278, reverse strandSUMF1SETMAR: 4,303,304–4,321,454, forward strandSETMARITPR1: 4,493,348–4,847,506, forward strandITPR1BHLHE40: 4,978,715–4,985,323, forward strandBHLHE40ARL8B: 5,122,231–5,180,916, forward strandARL8BEDEM1: 5,187,542–5,219,963, forward strandEDEM1Diagram of ITPR1: 62 exons on the forward strand of chromosome 3Exon 4: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 10: 8 known disease-causing sitesExon 16: 5 known disease-causing sitesExon 17: 2 known disease-causing sitesExon 18: 1 known disease-causing siteExon 23: 1 known disease-causing siteExon 24: 1 known disease-causing siteExon 25: 1 known disease-causing siteExon 27: 1 known disease-causing siteExon 34: 1 known disease-causing siteExon 37: 2 known disease-causing sitesExon 38: 1 known disease-causing siteExon 39: 1 known disease-causing siteExon 52: 1 known disease-causing siteExon 56: 4 known disease-causing sitesExon 58: 3 known disease-causing sitesExon 59: 5 known disease-causing sitesExon 1: 4,493,348–4,493,605, 258 basesExon 2: 4,494,431–4,494,506, 76 basesExon 3: 4,516,476–4,516,583, 108 basesExon 4: 4,521,024–4,521,094, 71 basesExon 5: 4,627,763–4,627,878, 116 basesExon 6: 4,639,384–4,639,470, 87 basesExon 7: 4,642,093–4,642,251, 159 basesExon 8: 4,644,136–4,644,234, 99 basesExon 9: 4,645,387–4,645,470, 84 basesExon 10: 4,645,582–4,645,728, 147 basesExon 11: 4,652,123–4,652,218, 96 basesExon 12: 4,653,842–4,653,886, 45 basesExon 13: 4,658,124–4,658,278, 155 basesExon 14: 4,660,988–4,661,087, 100 basesExon 15: 4,662,082–4,662,242, 161 basesExon 16: 4,663,065–4,663,206, 142 basesExon 17: 4,665,138–4,665,296, 159 basesExon 18: 4,667,377–4,667,549, 173 basesExon 19: 4,669,654–4,669,773, 120 basesExon 20: 4,670,729–4,670,926, 198 basesExon 21: 4,673,136–4,673,387, 252 basesExon 22: 4,674,202–4,674,343, 142 basesExon 23: 4,675,068–4,675,248, 181 basesExon 24: 4,676,614–4,676,801, 188 basesExon 25: 4,680,553–4,680,691, 139 basesExon 26: 4,681,364–4,681,418, 55 basesExon 27: 4,683,386–4,683,551, 166 basesExon 28: 4,683,628–4,683,798, 171 basesExon 29: 4,684,281–4,684,346, 66 basesExon 30: 4,685,069–4,685,206, 138 basesExon 31: 4,688,495–4,688,620, 126 basesExon 32: 4,691,144–4,691,344, 201 basesExon 33: 4,693,490–4,693,741, 252 basesExon 34: 4,697,147–4,697,272, 126 basesExon 35: 4,699,813–4,699,941, 129 basesExon 36: 4,702,830–4,702,950, 121 basesExon 37: 4,706,167–4,706,351, 185 basesExon 38: 4,710,325–4,710,473, 149 basesExon 39: 4,711,757–4,711,868, 112 basesExon 40: 4,717,367–4,717,399, 33 basesExon 41: 4,725,546–4,725,581, 36 basesExon 42: 4,727,126–4,727,173, 48 basesExon 43: 4,733,088–4,733,220, 133 basesExon 44: 4,735,164–4,735,354, 191 basesExon 45: 4,766,530–4,766,710, 181 basesExon 46: 4,768,511–4,768,764, 254 basesExon 47: 4,775,242–4,775,442, 201 basesExon 48: 4,777,264–4,777,374, 111 basesExon 49: 4,779,550–4,779,645, 96 basesExon 50: 4,782,619–4,782,741, 123 basesExon 51: 4,783,816–4,783,920, 105 basesExon 52: 4,787,947–4,788,139, 193 basesExon 53: 4,795,065–4,795,187, 123 basesExon 54: 4,800,425–4,800,600, 176 basesExon 55: 4,806,103–4,806,267, 165 basesExon 56: 4,811,265–4,811,460, 196 basesExon 57: 4,813,142–4,813,234, 93 basesExon 58: 4,814,423–4,814,562, 140 basesExon 59: 4,815,053–4,815,218, 166 basesExon 60: 4,818,082–4,818,242, 161 basesExon 61: 4,836,774–4,836,935, 162 basesExon 62: 4,846,139–4,847,506, 1,368 bases1102030405060625′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 9.9 kb of the gene's 354.2 kb; 8,277 of those bases code for the protein.

How a genome test reads ITPR1

44

positions in ITPR1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 354.2 kb of ITPR1, introns included, not only the 9.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ITPR1 gene: inositol 1,4,5-trisphosphate receptor type 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/itpr1

Vancouver

Dante Labs. ITPR1 gene: inositol 1,4,5-trisphosphate receptor type 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/itpr1

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