ITPR1

ITPR1

A gene on chromosome 3p26.1 that encodes an intracellular receptor for a so-called second messenger (inositol 1,4,5-trisphosphate (IP3)) which, once stimulated by IP3, mediates calcium release from the endoplasmic reticulum. The three IP3 receptor subtypes—IP3R1, IP3R2 and IP3R3—are present in the wild as homo- and heterotetramers, are associated with calmodulin and FK506-binding protein, and are modulated through phosphorylation by PKA, PKC, PKG and CaMKII.

Molecular pathology
IPTR1 mutations cause spinocerebellar ataxia type 15.
References in periodicals archive ?
(2015) Disrupted-inschizophrenia 1 regulates transport of ITPR1 mRNA for synaptic plasticity.
Mutations responsible for ataxic CP are found in the genes KCNC3, ITPR1, and SPTBN2 (3).
Similar to the previous pathways discussed above, GNAS was the only up-regulated gene (expression value 0.573); while the other genes associated with these pathways are down-regulated (ATM, CAMK4, FNBPI, ITPR1, NAPEPLD, PIK3R1, PRKA, PRKCH, and RHOH).
Specifically, the expression of ADAMTS9 (ADAM metallopeptidase with thrombospondin type 1 motif 9), HOXA11a (homeobox A11a), and PDE7B (phosphodiesterase 7B) harboring lncRNAs ADAMTS9-AS2, Hoxa11as, and NTT on the respective antisense strand was compromised, while that of ITPR1 on the opposite strand of lncRNA EGO was unaltered at both 3 or 24 h post-LPS treatment (Supplementary Table 3).
Although genomic loci of EGO are nested within the intronic region of the ITPR1 gene on the opposite strand, the expression of this lncRNA does not correlate with the expression of mRNA.
EGOA function is not yet known [73], but its potential role in glioma biogenesis may be implied by the chromosomal location, since its host gene ITPR1 (inositol triphosphate receptor type 1) is encoded in close proximity to EGR-1 (early growth response 1), a transcriptional regulator of genes required for induction of mitosis, cell differentiation, and growth [74].
In 2007, Wagner and colleagues first identified EGO as a long noncoding RNA nested within an intron of inositol triphosphate receptor type 1 (ITPR1) by demonstrating that EGO transcript was not associated with ribosomes [31].
This genome-wide ChIP-on-chip analysis of target genes of RORA, as well as additional methods of validation, confirmed that RORA transcriptionally regulates the genes A2BP1, CYP19A1, HSD17B10, ITPR1, NLGN1, and NTRK2, such that when RORA levels are cut in half, all six genes also go down in their expression.
The relative expression of CDK1, CDK2, CCNB1, GTSE1, ITPR1, c-MYC, SRGAP3, HIST2H3D, HIST] H3J, TOP2A, CCNA2 and RHOJ was determined.
On the other hand, the transcriptions of the PDFG signalling pathway-influencing genes were upregulated (ITPR1, c-MYC and SRGAP3; Table 2).
* Pathways [dagger] Up/down * Fold # Genes change p-Value DMA HIST2H3D Down 1.66 0.0018 replication HIST1H3J Down 1.89 0.005 CDK1 Down 3.18 0.029 TOP2A Down 3.58 0.026 p-53 pathway CDK1 Down 3.18 0.029 CDK2 Down 1.70 0.026 CCNB1 Down 4.43 0.049 CTSE1 Down 2.68 0.016 PDGF ITPR1 Up 1.96 0.031 signalling pathway c-MYC Up 1.53 0.02 SRCAP3 UP 1.64 0.013 Unclassified CCNA2 Down 4.18 0.032 RHOJ Down 3.62 0.014 * Significantly influenced pathways.
Of the three I[P.sub.3]R isoforms, IDCs and MDCs express message for ITPR1 and ITPR3, the latter down-regulated with maturation (Table 1).