Details for: ITPR1

Gene ID: 3708

Symbol: ITPR1

Ensembl ID: ENSG00000150995

Description: inositol 1,4,5-trisphosphate receptor type 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 238.4194
    Cell Significance Index: -37.0900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 137.9496
    Cell Significance Index: -34.9900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 78.8778
    Cell Significance Index: -37.2400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 74.4356
    Cell Significance Index: -30.2400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 68.5867
    Cell Significance Index: -35.2800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 30.1917
    Cell Significance Index: -37.2300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 15.7222
    Cell Significance Index: 344.2600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 13.6103
    Cell Significance Index: -36.4600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 12.6129
    Cell Significance Index: -38.7400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.1161
    Cell Significance Index: -22.1400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.4639
    Cell Significance Index: -37.3500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 4.8318
    Cell Significance Index: 213.7200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 4.8239
    Cell Significance Index: 182.6700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 3.7579
    Cell Significance Index: 1705.6000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.8362
    Cell Significance Index: 568.9300
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 2.5634
    Cell Significance Index: 34.2000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.4583
    Cell Significance Index: 65.8700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 2.3223
    Cell Significance Index: 66.2700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.1084
    Cell Significance Index: 219.5300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.1069
    Cell Significance Index: 755.6900
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.4474
    Cell Significance Index: 20.7900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.1643
    Cell Significance Index: 89.3500
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.9776
    Cell Significance Index: 14.0600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.9082
    Cell Significance Index: 628.1200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.8177
    Cell Significance Index: 147.4100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.7169
    Cell Significance Index: 17.9200
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.6199
    Cell Significance Index: 3.8200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6149
    Cell Significance Index: 122.0300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.5953
    Cell Significance Index: 40.0300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.4154
    Cell Significance Index: 8.8800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3185
    Cell Significance Index: 37.5600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3142
    Cell Significance Index: 283.6800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2966
    Cell Significance Index: 558.4400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2684
    Cell Significance Index: 413.2500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2324
    Cell Significance Index: 17.3200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2245
    Cell Significance Index: 42.7200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2204
    Cell Significance Index: 21.8000
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: 0.2029
    Cell Significance Index: 2.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1943
    Cell Significance Index: 358.3800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1772
    Cell Significance Index: 21.7900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1153
    Cell Significance Index: 18.7600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1006
    Cell Significance Index: 63.8600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0951
    Cell Significance Index: 2.7400
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: 0.0866
    Cell Significance Index: 0.9600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0665
    Cell Significance Index: 9.1300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0619
    Cell Significance Index: 84.1800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0523
    Cell Significance Index: 2.3700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0246
    Cell Significance Index: 3.1500
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.0183
    Cell Significance Index: 0.1400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0158
    Cell Significance Index: 11.6000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0147
    Cell Significance Index: 1.6000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0026
    Cell Significance Index: -0.0700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0037
    Cell Significance Index: -0.4300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0156
    Cell Significance Index: -9.7500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0210
    Cell Significance Index: -15.5800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0245
    Cell Significance Index: -0.8600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0417
    Cell Significance Index: -22.7800
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.0427
    Cell Significance Index: -0.6500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0430
    Cell Significance Index: -24.2300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0452
    Cell Significance Index: -34.2000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0608
    Cell Significance Index: -26.8600
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.0625
    Cell Significance Index: -1.1100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0681
    Cell Significance Index: -1.7500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0854
    Cell Significance Index: -12.4200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0894
    Cell Significance Index: -4.1700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0979
    Cell Significance Index: -10.0100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1015
    Cell Significance Index: -21.3800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1023
    Cell Significance Index: -17.4700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1034
    Cell Significance Index: -29.7400
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.1296
    Cell Significance Index: -1.1500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1465
    Cell Significance Index: -8.9800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1474
    Cell Significance Index: -10.1900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1534
    Cell Significance Index: -9.2100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1668
    Cell Significance Index: -3.5400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1882
    Cell Significance Index: -5.2600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1986
    Cell Significance Index: -22.7600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2045
    Cell Significance Index: -4.4300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2045
    Cell Significance Index: -10.6300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2200
    Cell Significance Index: -13.5200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2389
    Cell Significance Index: -7.6100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2430
    Cell Significance Index: -31.4000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2647
    Cell Significance Index: -3.7900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3187
    Cell Significance Index: -14.9800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3271
    Cell Significance Index: -10.4800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3367
    Cell Significance Index: -21.7300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3385
    Cell Significance Index: -38.6500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3712
    Cell Significance Index: -7.3400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3827
    Cell Significance Index: -30.3100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4310
    Cell Significance Index: -14.1100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4412
    Cell Significance Index: -23.1700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4578
    Cell Significance Index: -25.6900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4709
    Cell Significance Index: -24.5300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4747
    Cell Significance Index: -9.5300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.5089
    Cell Significance Index: -35.9900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.5309
    Cell Significance Index: -6.5900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.5332
    Cell Significance Index: -11.0600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.5387
    Cell Significance Index: -12.9200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5517
    Cell Significance Index: -19.1700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5835
    Cell Significance Index: -10.0000
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.5948
    Cell Significance Index: -6.4800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** ITPR1 is a calcium-release channel protein that is characterized by its ability to release calcium ions into the cytosol in response to IP3. The receptor is a transmembrane protein that spans the cell membrane and has two lobes, one of which is responsible for binding IP3. When IP3 binds to ITPR1, it triggers a conformational change in the receptor, which leads to the release of calcium ions into the cytosol. ITPR1 is also known to interact with other proteins, including calcium-binding proteins and signaling molecules, which modulate its activity and regulate its downstream effects. **Pathways and Functions** ITPR1 is involved in a wide range of cellular processes, including: 1. Calcium signaling: ITPR1 plays a crucial role in regulating calcium levels within cells by releasing calcium ions into the cytosol in response to IP3. 2. Immune response: ITPR1 is involved in regulating immune responses, including the activation of immune cells and the production of cytokines. 3. Muscle contraction: ITPR1 is expressed in smooth muscle cells and plays a role in regulating muscle contraction and relaxation. 4. Cell signaling: ITPR1 interacts with other signaling molecules, including G-proteins and calcium-binding proteins, to regulate its downstream effects. 5. Apoptosis: ITPR1 has been shown to play a role in regulating apoptosis, particularly in response to endoplasmic reticulum stress. **Clinical Significance** Dysregulation of ITPR1 has been implicated in a range of diseases, including: 1. Leishmaniasis: ITPR1 has been shown to play a role in the regulation of Leishmania parasite growth and survival. 2. Cancer: ITPR1 has been implicated in the regulation of cancer cell proliferation and survival. 3. Neurological disorders: ITPR1 has been shown to play a role in regulating neurotransmitter release and synaptic plasticity in the brain. 4. Cardiovascular disease: ITPR1 has been implicated in the regulation of cardiac conduction and muscle contraction. Overall, ITPR1 is a critical regulator of cellular processes, including calcium signaling, immune response, and muscle contraction. Dysregulation of ITPR1 has been implicated in a range of diseases, highlighting the importance of this gene in maintaining normal cellular function.

Genular Protein ID: 3339447163

Symbol: ITPR1_HUMAN

Name: IP3 receptor isoform 1

UniProtKB Accession Codes:

Q14643 E7EPX7 E9PDE9 Q14660 Q99897

Database IDs:

ABCD 1 AGR 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CORUM 1 CTD 1 ChEBI 25 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 ELM 1 EMBL 8 EMDB 1 Ensembl 5 ExpressionAtlas 1 GO 48 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PIR 2 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 9 Pumba 1 RNAct 1 Reactome 15 RefSeq 4 Rhea 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7945203

Title: Human inositol 1,4,5-trisphosphate type-1 receptor, InsP3R1: structure, function, regulation of expression and chromosomal localization.

PubMed ID: 7945203

DOI: 10.1042/bj3020781

PubMed ID: 7852357

Title: The human type 1 inositol 1,4,5-trisphosphate receptor from T lymphocytes. Structure, localization, and tyrosine phosphorylation.

PubMed ID: 7852357

DOI: 10.1074/jbc.270.6.2833

PubMed ID: 7500840

Title: Molecular cloning of a cDNA for the human inositol 1,4,5-trisphosphate receptor type 1, and the identification of a third alternatively spliced variant.

PubMed ID: 7500840

DOI: 10.1016/0169-328x(95)00089-b

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 8648241

Title: Induction of inositol 1,4,5 trisphosphate receptor genes by ionizing radiation.

PubMed ID: 8648241

DOI: 10.1080/095530096145544

PubMed ID: 10620513

Title: Ca2+-calmodulin inhibits Ca2+ release mediated by type-1, -2 and -3 inositol trisphosphate receptors.

PubMed ID: 10620513

DOI: 10.1042/bj3450357

PubMed ID: 12032348

Title: Identification of a family of calcium sensors as protein ligands of inositol trisphosphate receptor Ca(2+) release channels.

PubMed ID: 12032348

DOI: 10.1073/pnas.102006299

PubMed ID: 14685260

Title: Regulation of InsP3 receptor activity by neuronal Ca2+-binding proteins.

PubMed ID: 14685260

DOI: 10.1038/sj.emboj.7600037

PubMed ID: 15652484

Title: Subtype-specific and ER lumenal environment-dependent regulation of inositol 1,4,5-trisphosphate receptor type 1 by ERp44.

PubMed ID: 15652484

DOI: 10.1016/j.cell.2004.11.048

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16793548

Title: IRBIT suppresses IP3 receptor activity by competing with IP3 for the common binding site on the IP3 receptor.

PubMed ID: 16793548

DOI: 10.1016/j.molcel.2006.05.017

PubMed ID: 16990611

Title: IRAG mediates NO/cGMP-dependent inhibition of platelet aggregation and thrombus formation.

PubMed ID: 16990611

DOI: 10.1182/blood-2005-10-026294

PubMed ID: 17590087

Title: Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

PubMed ID: 17590087

DOI: 10.1371/journal.pgen.0030108

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19220705

Title: An IRBIT homologue lacks binding activity to inositol 1,4,5-trisphosphate receptor due to the unique N-terminal appendage.

PubMed ID: 19220705

DOI: 10.1111/j.1471-4159.2009.05979.x

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 23650607

Title: Tespa1 is a novel inositol 1,4,5-trisphosphate receptor binding protein in T and B lymphocytes.

PubMed ID: 23650607

DOI: 10.1016/j.fob.2012.08.005

PubMed ID: 23884412

Title: The Bcl-2 protein family member Bok binds to the coupling domain of inositol 1,4,5-trisphosphate receptors and protects them from proteolytic cleavage.

PubMed ID: 23884412

DOI: 10.1074/jbc.m113.496570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 27995898

Title: IRBIT controls apoptosis by interacting with the Bcl-2 homolog, Bcl2l10, and by promoting ER-mitochondria contact.

PubMed ID: 27995898

DOI: 10.7554/elife.19896

PubMed ID: 18579805

Title: Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.

PubMed ID: 18579805

DOI: 10.1212/01.wnl.0000311277.71046.a0

PubMed ID: 22986007

Title: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

PubMed ID: 22986007

DOI: 10.1186/1750-1172-7-67

PubMed ID: 26770814

Title: ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.

PubMed ID: 26770814

DOI: 10.1186/s40673-016-0040-8

PubMed ID: 27108797

Title: Recessive and dominant de novo ITPR1 mutations cause Gillespie syndrome.

PubMed ID: 27108797

DOI: 10.1016/j.ajhg.2016.03.004

PubMed ID: 27108798

Title: A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect.

PubMed ID: 27108798

DOI: 10.1016/j.ajhg.2016.03.018

PubMed ID: 30197081

Title: Mutations in disordered regions can cause disease by creating dileucine motifs.

PubMed ID: 30197081

DOI: 10.1016/j.cell.2018.08.019

Sequence Information:

  • Length: 2758
  • Mass: 313929
  • Checksum: D29B072252B0D8E7
  • Sequence:
    • MSDKMSSFLH IGDICSLYAE GSTNGFISTL GLVDDRCVVQ PETGDLNNPP KKFRDCLFKL 
CPMNRYSAQK QFWKAAKPGA NSTTDAVLLN KLHHAADLEK KQNETENRKL LGTVIQYGNV 
IQLLHLKSNK YLTVNKRLPA LLEKNAMRVT LDEAGNEGSW FYIQPFYKLR SIGDSVVIGD 
KVVLNPVNAG QPLHASSHQL VDNPGCNEVN SVNCNTSWKI VLFMKWSDNK DDILKGGDVV 
RLFHAEQEKF LTCDEHRKKQ HVFLRTTGRQ SATSATSSKA LWEVEVVQHD PCRGGAGYWN 
SLFRFKHLAT GHYLAAEVDP DFEEECLEFQ PSVDPDQDAS RSRLRNAQEK MVYSLVSVPE 
GNDISSIFEL DPTTLRGGDS LVPRNSYVRL RHLCTNTWVH STNIPIDKEE EKPVMLKIGT 
SPVKEDKEAF AIVPVSPAEV RDLDFANDAS KVLGSIAGKL EKGTITQNER RSVTKLLEDL 
VYFVTGGTNS GQDVLEVVFS KPNRERQKLM REQNILKQIF KLLQAPFTDC GDGPMLRLEE 
LGDQRHAPFR HICRLCYRVL RHSQQDYRKN QEYIAKQFGF MQKQIGYDVL AEDTITALLH 
NNRKLLEKHI TAAEIDTFVS LVRKNREPRF LDYLSDLCVS MNKSIPVTQE LICKAVLNPT 
NADILIETKL VLSRFEFEGV SSTGENALEA GEDEEEVWLF WRDSNKEIRS KSVRELAQDA 
KEGQKEDRDV LSYYRYQLNL FARMCLDRQY LAINEISGQL DVDLILRCMS DENLPYDLRA 
SFCRLMLHMH VDRDPQEQVT PVKYARLWSE IPSEIAIDDY DSSGASKDEI KERFAQTMEF 
VEEYLRDVVC QRFPFSDKEK NKLTFEVVNL ARNLIYFGFY NFSDLLRLTK ILLAILDCVH 
VTTIFPISKM AKGEENKGNN DVEKLKSSNV MRSIHGVGEL MTQVVLRGGG FLPMTPMAAA 
PEGNVKQAEP EKEDIMVMDT KLKIIEILQF ILNVRLDYRI SCLLCIFKRE FDESNSQTSE 
TSSGNSSQEG PSNVPGALDF EHIEEQAEGI FGGSEENTPL DLDDHGGRTF LRVLLHLTMH 
DYPPLVSGAL QLLFRHFSQR QEVLQAFKQV QLLVTSQDVD NYKQIKQDLD QLRSIVEKSE 
LWVYKGQGPD ETMDGASGEN EHKKTEEGNN KPQKHESTSS YNYRVVKEIL IRLSKLCVQE 
SASVRKSRKQ QQRLLRNMGA HAVVLELLQI PYEKAEDTKM QEIMRLAHEF LQNFCAGNQQ 
NQALLHKHIN LFLNPGILEA VTMQHIFMNN FQLCSEINER VVQHFVHCIE THGRNVQYIK 
FLQTIVKAEG KFIKKCQDMV MAELVNSGED VLVFYNDRAS FQTLIQMMRS ERDRMDENSP 
LMYHIHLVEL LAVCTEGKNV YTEIKCNSLL PLDDIVRVVT HEDCIPEVKI AYINFLNHCY 
VDTEVEMKEI YTSNHMWKLF ENFLVDICRA CNNTSDRKHA DSILEKYVTE IVMSIVTTFF 
SSPFSDQSTT LQTRQPVFVQ LLQGVFRVYH CNWLMPSQKA SVESCIRVLS DVAKSRAIAI 
PVDLDSQVNN LFLKSHSIVQ KTAMNWRLSA RNAARRDSVL AASRDYRNII ERLQDIVSAL 
EDRLRPLVQA ELSVLVDVLH RPELLFPENT DARRKCESGG FICKLIKHTK QLLEENEEKL 
CIKVLQTLRE MMTKDRGYGE KLISIDELDN AELPPAPDSE NATEELEPSP PLRQLEDHKR 
GEALRQVLVN RYYGNVRPSG RRESLTSFGN GPLSAGGPGK PGGGGGGSGS SSMSRGEMSL 
AEVQCHLDKE GASNLVIDLI MNASSDRVFH ESILLAIALL EGGNTTIQHS FFCRLTEDKK 
SEKFFKVFYD RMKVAQQEIK ATVTVNTSDL GNKKKDDEVD RDAPSRKKAK EPTTQITEEV 
RDQLLEASAA TRKAFTTFRR EADPDDHYQP GEGTQATADK AKDDLEMSAV ITIMQPILRF 
LQLLCENHNR DLQNFLRCQN NKTNYNLVCE TLQFLDCICG STTGGLGLLG LYINEKNVAL 
INQTLESLTE YCQGPCHENQ NCIATHESNG IDIITALILN DINPLGKKRM DLVLELKNNA 
SKLLLAIMES RHDSENAERI LYNMRPKELV EVIKKAYMQG EVEFEDGENG EDGAASPRNV 
GHNIYILAHQ LARHNKELQS MLKPGGQVDG DEALEFYAKH TAQIEIVRLD RTMEQIVFPV 
PSICEFLTKE SKLRIYYTTE RDEQGSKIND FFLRSEDLFN EMNWQKKLRA QPVLYWCARN 
MSFWSSISFN LAVLMNLLVA FFYPFKGVRG GTLEPHWSGL LWTAMLISLA IVIALPKPHG 
IRALIASTIL RLIFSVGLQP TLFLLGAFNV CNKIIFLMSF VGNCGTFTRG YRAMVLDVEF 
LYHLLYLVIC AMGLFVHEFF YSLLLFDLVY REETLLNVIK SVTRNGRSII LTAVLALILV 
YLFSIVGYLF FKDDFILEVD RLPNETAVPE TGESLASEFL FSDVCRVESG ENCSSPAPRE 
ELVPAEETEQ DKEHTCETLL MCIVTVLSHG LRSGGGVGDV LRKPSKEEPL FAARVIYDLL 
FFFMVIIIVL NLIFGVIIDT FADLRSEKQK KEEILKTTCF ICGLERDKFD NKTVTFEEHI 
KEEHNMWHYL CFIVLVKVKD STEYTGPESY VAEMIKERNL DWFPRMRAMS LVSSDSEGEQ 
NELRNLQEKL ESTMKLVTNL SGQLSELKDQ MTEQRKQKQR IGLLGHPPHM NVNPQQPA

Genular Protein ID: 3268817532

Symbol: B4DER3_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DER3

Database IDs:

ARBA 2 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 4 Gene3D 2 IntAct 1 InterPro 6 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 2 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 2 RuleBase 1 SAM 1 SMART 1 SUPFAM 2

Sequence Information:

  • Length: 1101
  • Mass: 126200
  • Checksum: 18B3D9F51ABE1DBA
  • Sequence:
    • MKWSDNKDDI LKGGDVVRLF HAEQEKFLTC DEHRKKQHVF LRTTGRQSAT SATSSKALWE 
VEVVQHDPCR GGAGYWNSLF RFKHLATGHY LAAEVDPDFE EECLEFQPSV DPDHDASRSR 
LRNAQEKMVY SLVSVPEGND ISSIFELDPT TLRGGDSLVP RNSYVRLRHL CTNTWVHSTN 
IPIDKEEEKP VMLKIGTSPV KEDKEAFAIV PVSPAEVRDL DFANDASKVL GSIAGKLEKG 
TITQNERRSV TKLLEDLVYF VTGGTNSGQD VLEVVFSKPN RERQKLMREQ NILKQIFKLL 
QAPFTDCGDG PMLRLEELGD QRHAPFRHIC RLCYRVLRHS QQDYRKNQEY IAKQFGFMQK 
QIGYDVLAED TITALLHNNR KLLEKHITAA EIDTFVSLVR KNREPRFLDY LSDLCVSMNK 
SIPVTQELIC KAVLNPTNAD ILIETKLVLS RFEFEGVSST GENALEAGED EEEVWLFWRD 
SNKEIRSKSV RELAQDAKEG QKGDRDVLSY YRYQLNLFAR MCLDRQYLAI NEISGQLDVD 
LILRCMSDEN LPYDLRASFC RLMLHMHVDR DPQEQVTPVK YARLWSEIPS EIAIDDYDSS 
GASKDEIKER FAQTMEFVEE YLRDVVCQRF PFSDKEKNKL TFEVVNLARN LIYFGFYNFS 
DLLRLTKILL AILDCVHVTT IFPISKMAKG EENKGSNVMR SIHGVGELMT QVVLRGGGFL 
PMTPMAAAPE GNVKQAEPEK EDIMVMDTKL KIIEILQFIL NVRLDYRISC LLCIFKREFD 
ESNSQTSETS SGNSSQEGPS NVPGALDFEH IEEQAEGIFG GSEENTPLDL DDHGGRTFLR 
VLLHLTMHDY PPLVSGALQL LFRHFSQRQE VLQAFKQVQL LVTSQDVDNY KQIKQDLDQL 
RSIVEKSELW VYKGQGPDET MDGASGENEH KKTEEGNNKP QKHESTSSYN YRVVKEILIR 
LSKLCVQESA SVRKSRKQQQ RLLRNMGAHA VVLELLQIPY EKAEDTKMQE IMRLAHEFLQ 
NFCAGNQQNQ ALLHKHINLF LNPGILEAVT MQHIFMNNFQ LCSEINERVV QHFVHCIETH 
GRNVQYIKFL QTIVKAEGKF I

Genular Protein ID: 919174250

Symbol: Q59H91_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59H91

Database IDs:

ARBA 3 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 3 Gene3D 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 4 PharmGKB 1 RefSeq 2 SAM 2

Sequence Information:

  • Length: 1207
  • Mass: 136431
  • Checksum: DC3C375E249C5DE6
  • Sequence:
    • CSQEPGHCHS RGPGQPSQQP LSQVPQHCAE TAMNWRLSAR NAARRDSVLA ASRDYRNIIE 
RLQDIVSALE DRLRPLVQAE LSVLVDVLHR PELLFPENTD ARRKCESGGF ICKLIKHTKQ 
LLEENEEKLC IKVLQTLREM MTKDRGYGEK LISIDELDNA ELPPAPDSEN ATEELEPSPP 
LRQLEDHKRG EALRQVLVNR YYGNVRPSGR RESLTSFGNG PLSAGGPGKP GGGGGGSGSS 
SMSRGEMSLA EVQCHLDKEG ASNLVIDLIM NASSDRVFHE SILLAIALLE GGNTTIQHSF 
FCRLTEDKKS EKFFKVFYDR MKVAQQEIKA TVTVNTSDLG NKKKDDEVDR DAPSRKKAKE 
PTTQITEEVR DQLLEASAAT RKAFTTFRRE ADPDDHYQPG EGTQATADKA KDDLEMSAVI 
TIMQPILRFL QLLCENHNRD LQNFLRCQNN KTNYNLVCET LQFLDCICGS TTGGLGLLGL 
YINEKNVALI NQTLESLTEY CQGPCHENQN CIATHESNGI DIITALILND INPLGKKRMD 
LVLELKNNAS KLLLAIMESR HDSENAERIL YNMRPKELVE VIKKAYMQGE VEFEDGENGE 
DGAASPRNVG HNIYILAHQL ARHNKELQSM LKPGGQVDGD EALEFYAKHT AQIEIVRLDR 
TMEQIVFPVP SICEFLTKES KLRIYYTTER DEQGSKINDF FLRSEDLFNE MNWQKKLRAQ 
PVLYWCARNM SFWSSISFNL AVLMNLLVAF FYPFKGVRGG TLEPHWSGLL WTAMLISLAI 
VIALPKPHGI RALIASTILR LIFSVGLQPT LFLLGAFNVC NKIIFLMSFV GNCGTFTRGY 
RAMVLDVEFL YHLLYLVICA MGLFVHEFFY SLLLFDLVYR EETLLNVIKS VTRDGRSIIL 
TAVLALILVY LFSIVGYLFF KDDFILEVDR LPNETAVPET GESLASEFLF SDVCRVESGE 
NCSSPAPREE LVPAEETEQD KEHTCETLLM CIVTVLSHGL RSGGGVGDVL RKPSKEEPLF 
AARVIYDLLF FFMVIIIVLN LIFGVIIDTF ADLRSEKQKK EEILKTTCFI CGLERDKFDN 
KTVTFEEHIK EEHNMWHYLC FIVLVKVKDS TEYTGPESYV AEMIKERNLD WFPRMRAMSL 
VSSDSEGEQN ELRNLQEKLE STMKLVTNLS GQLSELKDQM TEQRKQKQRI GLLGHPPHMN 
VNPQQPA

Genular Protein ID: 665033943

Symbol: B4DGH1_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DGH1

Database IDs:

ARBA 3 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 3 Gene3D 1 InterPro 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 SAM 2

Sequence Information:

  • Length: 466
  • Mass: 53098
  • Checksum: 2A534078CB05AAFB
  • Sequence:
    • MHEFYFSNKL FVSTCQAPGT LEPHWSGLLW TAMLISLAIV IALPKPHGIR ALIASTILRL 
IFSVGLQPTL FLLGAFNVCN KIIFLMSFVG NCGTFTRGYR AMVLDVEFLY HLLYLVICAM 
GLFVHEFFYS LLLFDLVYRE ETLLNVIKSV TRNGRSIILT AVLALILVYL FSIVGYLFFK 
DDFILEVDRL PNETAVPETG ESLASEFLFS DVCRVESGEN CSSPAPREEL VPAEETEQDK 
EHTCETLLMC IVTVLSHGLR SGGGVGDVLR KPSKEEPLFA ARVIYDLLFF FMVIIIVLNL 
IFGVIIDTFA DLRSEKQKKE EILKTTCFIC GLERDKFDNK TVTFEEHIKE EHNMWHYLCF 
IVLVKVKDST EYTGPESYVA EMIKERNLDW FPRMRAMSLV SSDSEGEQNE LRNLQEKLES 
TMKLVTNLSG QLSELKDQMT EQRKQKQRIG LLGHPPHMNV NPQQPA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.