ITPR1
Sign in to saveAlso known as ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16
gen de la especie Homo sapiens
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
monoatomic ion channel activityinositol 1,4,5-trisphosphate-gated calcium channel activityinositol 1,4,5-trisphosphate-gated calcium channel activityinositol 1,4,5-trisphosphate-gated calcium channel activityinositol 1,4,5-trisphosphate-gated calcium channel activityinositol 1,4,5-trisphosphate-gated calcium channel activityinositol 1,4,5-trisphosphate-gated calcium channel activitycalcium channel activity
Pathways
Calcium signaling pathway - Homo sapiens (human)cGMP-PKG signaling pathway - Homo sapiens (human)Phosphatidylinositol signaling system - Homo sapiens (human)Oocyte meiosis - Homo sapiens (human)Autophagy - animal - Homo sapiens (human)Apoptosis - Homo sapiens (human)Cellular senescence - Homo sapiens (human)Vascular smooth muscle contraction - Homo sapiens (human)Apelin signaling pathway - Homo sapiens (human)Gap junction - Homo sapiens (human)
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
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- PBB Protein ITPR1 image.jpg
Show 8 more facts
- HomoloGene ID
- 1673
- genomic end
- 4847506
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/3708
- genomic start
- 4493345
- chromosome
- human chromosome 3
- cytogenetic location
- 3p26.1
- expressed in
- left coronary artery
Sources (10)
via Wikidata · CC0