ITPR1
Sign in to saveAlso known as ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16
Inositol 1,4,5-trisphosphate receptor type 1 is a protein that in humans is encoded by the ITPR1 gene.
Gene data
ITPR1- Name
- inositol 1,4,5-trisphosphate receptor type 1
- Type
- protein-coding
- Position
- 4,493,345–4,847,518 (+)
- Aliases
- ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29
- Ensembl
- ENSG00000150995
- RefSeq RNA
- NM_001099952.4, NM_001168272.2, NM_001378452.1, NM_002222.7
- RefSeq protein
- NP_001093422.2, NP_001161744.1, NP_001365381.1, NP_002213.5
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
inositol 1,4,5-trisphosphate receptor type 1
- Symbol
- ITPR1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:4,493,345-4,847,518
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
5 sectionsContents
- Interactions
- See also
- References
- Further reading
- External links
Inositol 1,4,5-trisphosphate receptor type 1 is a protein that in humans is encoded by the ITPR1 gene.
== Interactions ==
Excerpted from Wikipedia’s “ITPR1” article, available under the CC BY-SA 4.0 licence.