ITPR1 wt Allele

Preferred Label : ITPR1 wt Allele;

NCIt synonyms : Inositol 1,4,5-Triphosphate Receptor, Type 1 Gene; ITPR1; IP3R; IP3R1; ACV; Inositol 1,4,5-Trisphosphate Receptor, Type 1 wt Allele; PPP1R94; CLA4; INSP3R1; Protein Phosphatase 1, Regulatory Subunit 94 Gene; SCA16; SCA15; SCA29;

NCIt definition : Human ITPR1 wild-type allele is located within 3p26-p25 and is approximately 354 kb in length. This allele, which encodes inositol 1,4,5-trisphosphate receptor type 1 protein, is involved in the mediation of intracellular calcium release.;

GenBank Accession Number : NM_002222;

Details

Origin ID

C51556;

UMLS CUI

C1705860;

OMIM relation
- Inositol 1,4,5-triphosphate receptor, type 1 [OMIM gene]
See also inter- (CISMeF)
- Spinocerebellar ataxia 15 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 3: 4510137-4864081 [NCIt concept]
gene_in_chromosomal_location
- 3p26-p25 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Gap Junction Assembly Pathway [NCIt concept]
- Gastric Acid Secretion Pathway [NCIt concept]
- Gonadotropin-Releasing Hormone Signaling Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Long-Term Depression Pathway [NCIt concept]
- Long-Term Potentiation Pathway [NCIt concept]
- Oocyte Meiosis Pathway [NCIt concept]
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
- Salivary Secretion Pathway [NCIt concept]
- Vascular Smooth Muscle Contraction Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Calcium Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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