Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

ITPR1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the ITPR1 gene?

The official name of this gene is “inositol 1,4,5-trisphosphate receptor, type 1.”

ITPR1 is the gene's official symbol. The ITPR1 gene is also known by other names, listed below.

What is the normal function of the ITPR1 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3708):

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]

From UniProt (http://www.uniprot.org/uniprot/Q14643):

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.

NOTE: UniProt (http://www.uniprot.org/uniprot/Q14643) suggests using caution when interpreting this information.

How are changes in the ITPR1 gene related to health conditions?

UniProt (http://www.uniprot.org/uniprot/Q14643) provides the following information about the ITPR1 gene's known or predicted involvement in human disease.

Spinocerebellar ataxia 15 (SCA15): 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.[1] The disease is caused by mutations affecting the gene represented in this entry.

Spinocerebellar ataxia 29 (SCA29): 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.[2] The disease is caused by mutations affecting the gene represented in this entry.

UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]
[2]

Where is the ITPR1 gene located?

Cytogenetic Location: 3p26.1

Molecular Location on chromosome 3: base pairs 4,493,347 to 4,847,839

The ITPR1 gene is located on the short (p) arm of chromosome 3 at position 26.1.

The ITPR1 gene is located on the short (p) arm of chromosome 3 at position 26.1.

More precisely, the ITPR1 gene is located from base pair 4,493,347 to base pair 4,847,839 on chromosome 3.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ITPR1?

You and your healthcare professional may find the following resources about ITPR1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ITPR1 gene or gene products?

  • ACV
  • CLA4
  • INSP3R1
  • IP3R
  • IP3R1
  • PPP1R94
  • SCA15
  • SCA16
  • SCA29

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ITPR1?

apoptosis ; ataxia ; atrophy ; autosomal ; autosomal dominant ; brainstem ; calcium ; cerebellum ; channel ; congenital ; dysarthria ; endoplasmic reticulum ; ER ; gait ; gene ; hypotonia ; imaging ; intracellular ; kinase ; motor ; nystagmus ; receptor ; stress ; transcript ; tremor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: September 29, 2014