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GENERAL INFORMATION
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Protein class
Protein class the gene product belongs to according to selected gene lists. List of protein classes.
Predicted localization
Protein localization predicted from several bioinformatic algorithms. More info...
Number of transcripts
Number of protein-coding transcribed from this gene as defined by Ensembl.
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Gene name |
ITPR1 |
Gene description |
Inositol 1,4,5-trisphosphate receptor, type 1 |
Protein class |
Disease related genes
Plasma proteins
Potential drug targets
Predicted membrane proteins
Transporters |
Predicted localization |
Membrane |
Number of transcripts |
6 |
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HUMAN PROTEIN ATLAS INFORMATION
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RNA tissue category
The RNA tissue category is based on mRNA expression levels in 32 different tissues ( RNA assay description).
The categories include: tissue enriched, group enriched, tissue enhanced, expressed in all, not detected, and mixed.
RNA tissue category is calculated separately both for internally generated Human Protein Atlas (HPA) RNA-seq data, as
well as RNA-seq data from the Genotype-Tissue Expression ( GTEx) consortium.
Protein evidence
Protein evidence scores are generated from several independent sources
and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence or iv) not available.
Protein localization
A summary of the overall protein expression pattern across the analyzed tissues. The summary is based on knowledge-based
annotation ( Annotation description). For genes pending
knowledge-based annotation, the protein localization refers to the antibody staining pattern.
"RNA-based expert annotation gave inconconclusive results" is shown for genes analyzed with a knowledge-based approach where
available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with
immunohistochemistry-data to yield a reliable estimation of the protein expression profile.
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RNA tissue category |
| HPA: | Mixed |
| GTEx: | Expressed in all |
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Protein evidence |
Evidence at protein level |
Protein localization |
Cytoplasmic expression in a few tissues, most abundant in neuronal cells in CNS. |
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ANTIBODY RELIABILITY
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Data reliability description
Standardized explanatory sentences with additional information required for full understanding of the
knowledge-based expression profile. Currently, not all genes have been analyzed by knowledge-based
annotation, indicated by "Pending RNA-based expert annotation", when applicable.
Data reliability
Data reliability score ( score description), divided into supportive (premium)
or uncertain (not premium), is based on consistency between the staining pattern of one antibody or several
antibodies with RNA-seq data and available gene/protein characterization data.
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Data reliability
description |
Pending RNA-based expert annotation. |
Data reliability |
Supportive based on 2 antibodies.
HPA014765
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HPA016487
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PROTEIN EXPRESSION OVERVIEW
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Protein expression data is shown for each of the 44 tissues. Color-coding is based on 13 tissue groups, each consisting
of tissues with common functional features. Mouse-over function shows protein score for analyzed cell types found in a
selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in
detail in Assays & annotation.
For genes with available protein data for which a knowledge-based annotation could not be performed, no protein
expression data is displayed in the protein expression data overview, however, all immunohistochemical images are
still available and the annotation data can be found under Primary data.
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GENE INFORMATION
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Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
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Gene name |
ITPR1 (HGNC Symbol) |
Synonyms |
ACV, Insp3r1, IP3R1, PPP1R94, SCA15, SCA16, SCA29 |
Description |
Inositol 1,4,5-trisphosphate receptor, type 1 (HGNC Symbol) |
Entrez gene summary |
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] |
Chromosome |
3 |
Cytoband |
p26.1 |
Chromosome location (bp) |
4493348 - 4847840 |
Protein evidence |
Evidence at protein level (all genes) |
Ensembl |
ENSG00000150995 (version 78.38) |
Entrez gene |
3708 |
UniProt |
Q14643 (UniProt - Evidence at protein level) |
neXtProt |
NX_Q14643 |
Antibodypedia |
ITPR1 antibodies |
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PROTEIN BROWSER
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The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The
tabs at the top of the protein view section can be used to switch between the different splice variants to which
an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green
bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is
displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues
(HsID 50) ( read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS,
SignalP 4.0, and
Phobius (turquoise)
and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow
and InterPro regions in green. Common (purple) and
unique (grey) regions between different splice variants of the gene are also displayed
( read more), and at the
bottom of the protein view is the protein scale.
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PROTEIN INFORMATION
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The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this
gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary
for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching
UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the
protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are
listed if expanding the Gene ontology column.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a
majority of the signal peptide predictors SPOCTOPUS,
SignalP 4.0 and
Phobius) and the number of predicted transmembrane region(s)
(according to MDM) are also reported.
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Splice variant |
Ensembl |
UniProt |
Protein class |
Gene ontology |
Length
(aa) |
Molecular mass
(kDa) |
Signal peptide
(predicted) |
Transmembrane regions
(predicted)
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| ITPR1-001 |
ENSP00000349597
ENST00000357086
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Q14643
Show all »
« Hide
Q14643 [Direct mapping]Inositol 1,4,5-trisphosphate receptor type 1
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Show »
« Hide
Transporters
Transporter channels and pores
Predicted membrane proteins
Prediction method-based
Membrane proteins predicted by MDM
MEMSAT-SVM predicted membrane proteins
Phobius predicted membrane proteins
SCAMPI predicted membrane proteins
SPOCTOPUS predicted membrane proteins
THUMBUP predicted membrane proteins
TMHMM predicted membrane proteins
# TM segments-based
7TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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Show »
« Hide
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2710 |
308.5 |
No |
7 |
| ITPR1-002 |
ENSP00000397885
ENST00000456211
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Q14643
Show all »
« Hide
Q14643 [Direct mapping]Inositol 1,4,5-trisphosphate receptor type 1
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Show »
« Hide
Transporters
Transporter channels and pores
Predicted membrane proteins
Prediction method-based
Membrane proteins predicted by MDM
MEMSAT-SVM predicted membrane proteins
Phobius predicted membrane proteins
SCAMPI predicted membrane proteins
SPOCTOPUS predicted membrane proteins
THUMBUP predicted membrane proteins
TMHMM predicted membrane proteins
# TM segments-based
7TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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Show »
« Hide
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2695 |
306.8 |
No |
7 |
| ITPR1-004 |
ENSP00000401671
ENST00000443694
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Q14643
Show all »
« Hide
Q14643 [Direct mapping]Inositol 1,4,5-trisphosphate receptor type 1
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Show »
« Hide
Transporters
Transporter channels and pores
Predicted membrane proteins
Prediction method-based
Membrane proteins predicted by MDM
MEMSAT-SVM predicted membrane proteins
Phobius predicted membrane proteins
SCAMPI predicted membrane proteins
SPOCTOPUS predicted membrane proteins
THUMBUP predicted membrane proteins
TMHMM predicted membrane proteins
# TM segments-based
7TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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Show »
« Hide
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2743 |
312.2 |
No |
7 |
| ITPR1-201 |
ENSP00000306253
ENST00000302640
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Q14643
Show all »
« Hide
Q14643 [Direct mapping]Inositol 1,4,5-trisphosphate receptor type 1
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Show »
« Hide
Transporters
Transporter channels and pores
Predicted membrane proteins
Prediction method-based
Membrane proteins predicted by MDM
MEMSAT-SVM predicted membrane proteins
Phobius predicted membrane proteins
SCAMPI predicted membrane proteins
SPOCTOPUS predicted membrane proteins
THUMBUP predicted membrane proteins
TMHMM predicted membrane proteins
# TM segments-based
7TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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Show »
« Hide
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2743 |
312.2 |
No |
7 |
| ITPR1-202 |
ENSP00000346595
ENST00000354582
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Q14643
Show all »
« Hide
Q14643 [Direct mapping]Inositol 1,4,5-trisphosphate receptor type 1
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Show »
« Hide
Transporters
Transporter channels and pores
Predicted membrane proteins
Prediction method-based
Membrane proteins predicted by MDM
MEMSAT-SVM predicted membrane proteins
Phobius predicted membrane proteins
SCAMPI predicted membrane proteins
SPOCTOPUS predicted membrane proteins
THUMBUP predicted membrane proteins
TMHMM predicted membrane proteins
# TM segments-based
7TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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Show »
« Hide
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2758 |
313.9 |
No |
7 |
| ITPR1-203 |
ENSP00000440564
ENST00000544951
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B7ZMI3
Show all »
« Hide
B7ZMI3 [Target identity:100%; Query identity:100%]ITPR1 protein {ECO:0000313|EMBL:AAI44564.1}; Inositol 1,4,5-trisphosphate receptor type 1 {ECO:0000313|Ensembl:ENSP00000440564}
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Show »
« Hide
Predicted membrane proteins
Prediction method-based
Membrane proteins predicted by MDM
MEMSAT3 predicted membrane proteins
MEMSAT-SVM predicted membrane proteins
Phobius predicted membrane proteins
SCAMPI predicted membrane proteins
SPOCTOPUS predicted membrane proteins
THUMBUP predicted membrane proteins
TMHMM predicted membrane proteins
# TM segments-based
3TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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Show »
« Hide
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721 |
81.9 |
No |
3 |
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