Home
>
Product
>
Antibody
>
Rabbit Anti-IP3 receptor/FITC Conjugated antibody
background:
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].
Function:
Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate.
Subunit:
Homotetramer. Interacts with TRPC4. The PPXXF motif binds HOM1, HOM2 and HOM3. Interacts with RYR1, RYR2, ITPR1, SHANK1 and SHANK3. Interacts with ERP44 in a pH-, redox state- and calcium-dependent manner which results in the inhibition the calcium channel activity. The strength of this interaction inversely correlates with calcium concentration. Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1. Interacts with AHCYL1 (By similarity). Interacts with MRVI1 and CABP1 (via N-terminus).
Subcellular Location:
Endoplasmic reticulum membrane.
Tissue Specificity:
Widely expressed.
Post-translational modifications:
Phosphorylated by cAMP kinase.
Phosphorylation prevents the ligand-induced opening of the calcium channels.
Phosphorylated on tyrosine residues.
DISEASE:
Defects in ITPR1 are the cause of spinocerebellar ataxia type 15 (SCA15) (SCA15) [MIM:606658]. 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.
Similarity:
Belongs to the InsP3 receptor family.
Contains 5 MIR domains.
Database links:
Entrez Gene: 476548 Dog
Entrez Gene: 3708 Human
Entrez Gene: 16438 Mouse
Entrez Gene: 25262 Rat
Omim: 147265 Human
SwissProt: Q14643 Human
SwissProt: P11881 Mouse
SwissProt: P29994 Rat
Unigene: 567295 Human
Unigene: 715765 Human
Unigene: 227912 Mouse
Unigene: 2135 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|