Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

ITPR1_HUMAN

Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate (PubMed). Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 . Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways . [View more on UniProt]

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Position Amino acid Mutation Disease Overlap with binding region
602 Asn Asp Spinocerebellarataxia29(SCA29) -
1562 Val Met Spinocerebellarataxia29(SCA29) -
2109 Glu Gln Gillespiesyndrome(GLSP) -
2554 Gly Arg Gillespiesyndrome(GLSP) -
2601 Phe Leu Gillespiesyndrome(GLSP) -
1083 Pro Leu Spinocerebellarataxia15(SCA15) -
ELM instance Name Type Start End Partner
ELMI001694 LIG_EVH1_2 LIG 49 53 -

Molecular function

Term Name % Distance from the top of the tree Annotated in ITPR1_HUMAN
GO:0046872 metal ion binding 32.0000 4 yes
GO:0017076 purine nucleotide binding 32.0000 4 no
GO:0032555 purine ribonucleotide binding 32.0000 4 no
GO:0035639 purine ribonucleoside triphosphate binding 32.0000 4 no
GO:0005524 ATP binding 24.0000 5 no
GO:0030554 adenyl nucleotide binding 24.0000 5 no
GO:0032559 adenyl ribonucleotide binding 24.0000 5 no
GO:0019900 kinase binding 22.6667 4 no
GO:0005509 calcium ion binding 17.3333 5 yes
GO:0008324 cation transmembrane transporter activity 12.0000 4 yes
GO:0022890 inorganic cation transmembrane transporter activity 12.0000 4 yes
GO:0046873 metal ion transmembrane transporter activity 12.0000 5 yes
GO:0005216 ion channel activity 8.0000 4 yes
GO:0015085 calcium ion transmembrane transporter activity 8.0000 6 yes
GO:0015267 channel activity 8.0000 4 yes
GO:0022836 gated channel activity 8.0000 5 yes
GO:0008200 ion channel inhibitor activity 6.6667 4 yes
GO:0035091 phosphatidylinositol binding 6.6667 4 yes
GO:0005246 calcium channel regulator activity 5.3333 4 yes
GO:0005261 cation channel activity 5.3333 5 yes
GO:0005262 calcium channel activity 5.3333 6 yes
GO:0015276 ligand-gated ion channel activity 5.3333 5 yes
GO:0019855 calcium channel inhibitor activity 5.3333 5 yes
GO:0022834 ligand-gated channel activity 5.3333 6 yes
GO:0005217 intracellular ligand-gated ion channel activity 4.0000 6 yes
GO:0015278 calcium-release channel activity 4.0000 7 yes
GO:0099094 ligand-gated cation channel activity 4.0000 6 yes
GO:0099604 ligand-gated calcium channel activity 4.0000 7 yes
GO:0005220 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity 2.6667 8 yes
GO:0070679 inositol 1,4,5 trisphosphate binding 2.6667 4 yes
GO:0098695 inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels 2.6667 9 yes

Biological process

Term Name % Distance from top the of the tree Annotated in ITPR1_HUMAN
GO:0048523 negative regulation of cellular process 61.3333 4 yes
GO:0048522 positive regulation of cellular process 54.6667 4 no
GO:0031323 regulation of cellular metabolic process 49.3333 4 yes
GO:0051128 regulation of cellular component organization 49.3333 4 no
GO:0010646 regulation of cell communication 48.0000 4 yes
GO:0080090 regulation of primary metabolic process 45.3333 4 no
GO:0060255 regulation of macromolecule metabolic process 44.0000 4 no
GO:0051049 regulation of transport 42.6667 4 no
GO:0051171 regulation of nitrogen compound metabolic process 41.3333 4 no
GO:0009966 regulation of signal transduction 40.0000 4 yes
GO:0008104 protein localization 37.3333 4 no
GO:0006996 organelle organization 36.0000 4 no
GO:0022607 cellular component assembly 33.3333 4 no
GO:0009892 negative regulation of metabolic process 32.0000 4 no
GO:0051246 regulation of protein metabolic process 32.0000 5 no
GO:0009893 positive regulation of metabolic process 30.6667 4 no
GO:0031324 negative regulation of cellular metabolic process 29.3333 5 no
GO:0043269 regulation of ion transport 29.3333 5 no
GO:0010959 regulation of metal ion transport 28.0000 6 no
GO:0033043 regulation of organelle organization 26.6667 5 no
GO:0044087 regulation of cellular component biogenesis 26.6667 4 no
GO:0010468 regulation of gene expression 26.6667 5 no
GO:0010604 positive regulation of macromolecule metabolic process 26.6667 5 no
GO:0031325 positive regulation of cellular metabolic process 26.6667 5 no
GO:0036211 protein modification process 26.6667 4 no
GO:0043412 macromolecule modification 26.6667 4 no
GO:0051050 positive regulation of transport 26.6667 4 no
GO:0051173 positive regulation of nitrogen compound metabolic process 26.6667 5 no
GO:0071702 organic substance transport 26.6667 4 no
GO:1902531 regulation of intracellular signal transduction 25.3333 5 yes
GO:0010605 negative regulation of macromolecule metabolic process 25.3333 5 no
GO:0060341 regulation of cellular localization 25.3333 4 no
GO:0071705 nitrogen compound transport 25.3333 4 no
GO:0030030 cell projection organization 25.3333 4 no
GO:0048878 chemical homeostasis 24.0000 4 yes
GO:0031344 regulation of cell projection organization 24.0000 5 no
GO:0048584 positive regulation of response to stimulus 24.0000 4 no
GO:0120035 regulation of plasma membrane bounded cell projection organization 24.0000 6 no
GO:0051924 regulation of calcium ion transport 24.0000 7 no
GO:0031399 regulation of protein modification process 24.0000 6 no
GO:0015031 protein transport 22.6667 4 no
GO:0051172 negative regulation of nitrogen compound metabolic process 22.6667 5 no
GO:0071310 cellular response to organic substance 22.6667 4 no
GO:0034762 regulation of transmembrane transport 22.6667 4 no
GO:0120036 plasma membrane bounded cell projection organization 22.6667 5 no
GO:0007010 cytoskeleton organization 21.3333 5 no
GO:0032970 regulation of actin filament-based process 21.3333 4 no
GO:0009889 regulation of biosynthetic process 21.3333 4 no
GO:0010243 response to organonitrogen compound 21.3333 4 no
GO:0031326 regulation of cellular biosynthetic process 21.3333 5 no
GO:0044057 regulation of system process 21.3333 4 no
GO:0051130 positive regulation of cellular component organization 21.3333 5 no
GO:0034765 regulation of ion transmembrane transport 21.3333 5 no
GO:0010941 regulation of cell death 21.3333 4 no
GO:0019220 regulation of phosphate metabolic process 21.3333 6 no
GO:0051174 regulation of phosphorus metabolic process 21.3333 5 no
GO:0009894 regulation of catabolic process 20.0000 4 yes
GO:0006811 ion transport 18.6667 4 yes
GO:0010648 negative regulation of cell communication 17.3333 5 yes
GO:0023057 negative regulation of signaling 17.3333 4 yes
GO:0031329 regulation of cellular catabolic process 17.3333 5 yes
GO:0048585 negative regulation of response to stimulus 17.3333 4 yes
GO:0051282 regulation of sequestering of calcium ion 17.3333 4 yes
GO:0006873 cellular ion homeostasis 16.0000 4 yes
GO:0009968 negative regulation of signal transduction 16.0000 5 yes
GO:0030003 cellular cation homeostasis 16.0000 5 yes
GO:0050801 ion homeostasis 16.0000 5 yes
GO:0055080 cation homeostasis 16.0000 6 yes
GO:0098771 inorganic ion homeostasis 16.0000 6 yes
GO:0006812 cation transport 16.0000 5 yes
GO:0006875 cellular metal ion homeostasis 14.6667 6 yes
GO:0030001 metal ion transport 14.6667 6 yes
GO:0055065 metal ion homeostasis 14.6667 7 yes
GO:0010506 regulation of autophagy 12.0000 6 yes
GO:0050848 regulation of calcium-mediated signaling 12.0000 6 yes
GO:0098655 cation transmembrane transport 12.0000 4 yes
GO:0098660 inorganic ion transmembrane transport 12.0000 4 yes
GO:0098662 inorganic cation transmembrane transport 12.0000 5 yes
GO:0006874 cellular calcium ion homeostasis 10.6667 7 yes
GO:0034976 response to endoplasmic reticulum stress 10.6667 4 yes
GO:0055074 calcium ion homeostasis 10.6667 8 yes
GO:0072503 cellular divalent inorganic cation homeostasis 10.6667 6 yes
GO:0072507 divalent inorganic cation homeostasis 10.6667 7 yes
GO:1902532 negative regulation of intracellular signal transduction 10.6667 6 yes
GO:0006816 calcium ion transport 8.0000 7 yes
GO:0036293 response to decreased oxygen levels 8.0000 4 yes
GO:0070588 calcium ion transmembrane transport 6.6667 6 yes
GO:0032469 endoplasmic reticulum calcium ion homeostasis 5.3333 8 yes
GO:0050849 negative regulation of calcium-mediated signaling 5.3333 7 yes
GO:0097193 intrinsic apoptotic signaling pathway 5.3333 4 yes
GO:0097553 calcium ion transmembrane import into cytosol 5.3333 7 yes
GO:0042044 fluid transport 4.0000 4 yes
GO:0042045 epithelial fluid transport 4.0000 5 yes
GO:0050905 neuromuscular process 4.0000 4 yes
GO:0051209 release of sequestered calcium ion into cytosol 4.0000 6 yes
GO:0051283 negative regulation of sequestering of calcium ion 4.0000 5 yes
GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress 4.0000 5 yes
GO:0070633 transepithelial transport 4.0000 4 yes
GO:0050882 voluntary musculoskeletal movement 2.6667 4 yes

Disease

Term Name % Distance from top the of the tree Annotated in ITPR1_HUMAN
DOID:1289 neurodegenerative disease 6.6667 4 yes
DOID:331 central nervous system disease 6.6667 3 yes
DOID:0050753 cerebellar ataxia 5.3333 6 yes
DOID:0050951 hereditary ataxia 5.3333 5 yes
DOID:1441 autosomal dominant cerebellar ataxia 4.0000 7 yes
DOID:0050700 cardiomyopathy 4.0000 4 no
DOID:0060036 intrinsic cardiomyopathy 4.0000 5 no
DOID:114 heart disease 4.0000 3 no
DOID:0050965 spinocerebellar ataxia type 15 2.6667 8 yes
DOID:0050978 spinocerebellar ataxia type 29 2.6667 8 yes
DOID:0050686 organ system cancer 2.6667 3 no
DOID:0060674 catecholaminergic polymorphic ventricular tachycardia 2.6667 5 no
DOID:10273 heart conduction disease 2.6667 4 no
DOID:2843 long QT syndrome 2.6667 6 no
DOID:0050950 autosomal recessive cerebellar ataxia 2.6667 7 no
Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
PPIF_HUMAN [view interactions] Low throughput no no
CAH8_HUMAN [view interactions] Low throughput no no
E41L1_HUMAN [view entry] [view interactions] Low throughput yes yes
TRPC4_HUMAN [view interactions] Low throughput no no
FKB1A_HUMAN [view interactions] Low throughput no yes
CABP1_HUMAN [view entry] [view interactions] Low throughput yes yes
RHOA_HUMAN [view entry] [view interactions] Low throughput yes yes
SDC2_HUMAN [view interactions] Low throughput no yes
IRAG1_HUMAN [view interactions] Low throughput no yes
BANK1_HUMAN [view interactions] Low throughput no no
UBC_HUMAN [view entry] [view interactions] Low throughput yes yes
ERLN1_HUMAN [view entry] [view interactions] Low throughput yes yes
ERLN2_HUMAN [view entry] [view interactions] Low throughput yes yes
TERA_HUMAN [view entry] [view interactions] Low throughput yes yes
RN170_HUMAN [view interactions] Low throughput no yes
UFD1_HUMAN [view interactions] Low throughput no no
UBE4B_HUMAN [view interactions] Low throughput no yes
NPL4_HUMAN [view interactions] Low throughput no yes
UBE4A_HUMAN [view entry] [view interactions] Low throughput yes yes
GRM1_HUMAN [view entry] [view interactions] Low throughput yes yes
HOME1_HUMAN [view entry] [view interactions] Low throughput yes yes
GRID2_HUMAN [view entry] [view interactions] Low throughput yes no
BRCA1_HUMAN [view interactions] Low throughput no yes
BECN1_HUMAN [view interactions] Low throughput no yes
ITPR3_HUMAN [view interactions] Low throughput no yes
HOME2_HUMAN [view entry] [view interactions] Low throughput yes yes
FRPD4_HUMAN [view entry] [view interactions] Low throughput yes no
STA13_HUMAN [view interactions] Low throughput no yes
AKT1_HUMAN [view entry] [view interactions] Low throughput yes yes
CRTC2_HUMAN [view interactions] Low throughput no yes
ERP44_HUMAN [view interactions] Low throughput no yes
HD_HUMAN [view entry] [view interactions] Low throughput yes yes
HAP1_HUMAN [view entry] [view interactions] Low throughput yes yes
BCL2_HUMAN [view interactions] Low throughput no no
B2L10_HUMAN [view interactions] Low throughput no yes
SAHH2_HUMAN [view entry] [view interactions] Low throughput yes yes
ACON_HUMAN [view entry] [view interactions] Low throughput yes yes
CALM2_HUMAN [view entry] [view interactions] Low throughput yes yes
CALM3_HUMAN [view entry] [view interactions] Low throughput yes yes
CALM1_HUMAN [view entry] [view interactions] Low throughput yes yes
NCS1_HUMAN [view entry] [view interactions] Low throughput yes yes
KGP1_HUMAN [view interactions] Low throughput no yes
PDE5A_HUMAN [view interactions] Low throughput no yes
LAT_HUMAN [view interactions] Low throughput no no
GRP75_HUMAN [view entry] [view interactions] Low throughput yes yes
VDAC1_HUMAN [view entry] [view interactions] Low throughput yes yes
ITPR1_HUMAN [view entry] [view interactions] Low throughput yes yes
CNEP1_HUMAN [view interactions] High throughput no yes
TRPC1_HUMAN [view interactions] High throughput no yes
TRPC3_HUMAN [view interactions] High throughput no no
TRPC5_HUMAN [view interactions] High throughput no no
TRPC6_HUMAN [view interactions] High throughput no no
TOP2B_HUMAN [view interactions] High throughput no yes
PSMD2_HUMAN [view entry] [view interactions] High throughput yes yes
AMFR_HUMAN [view interactions] High throughput no yes
NAC1_HUMAN [view entry] [view interactions] High throughput yes yes
AT1A3_HUMAN [view entry] [view interactions] High throughput yes no
SPTN1_HUMAN [view entry] [view interactions] High throughput yes yes
TESP1_HUMAN [view interactions] High throughput no yes
CAZA2_HUMAN [view entry] [view interactions] High throughput yes yes
PLK2_HUMAN [view interactions] High throughput no yes
SYNPO_HUMAN [view entry] [view interactions] High throughput yes no
TF2H5_HUMAN [view interactions] High throughput no no
MYH9_HUMAN [view entry] [view interactions] High throughput yes no
MYO1C_HUMAN [view entry] [view interactions] High throughput yes yes
MD2L1_HUMAN [view interactions] High throughput no no
LIMA1_HUMAN [view entry] [view interactions] High throughput yes no
KCTD5_HUMAN [view interactions] High throughput no no
MYH10_HUMAN [view entry] [view interactions] High throughput yes yes
FUS_HUMAN [view entry] [view interactions] High throughput yes yes
RAB7L_HUMAN [view interactions] High throughput no yes
FXL14_HUMAN [view interactions] High throughput no yes
TAFA4_HUMAN [view interactions] High throughput no no
TRI25_HUMAN [view interactions] High throughput no yes
DCPS_HUMAN [view interactions] High throughput no yes
NEB2_HUMAN [view entry] [view interactions] High throughput yes yes
VIR_HUMAN [view interactions] High throughput no yes
A16L1_HUMAN [view entry] [view interactions] High throughput yes yes
CTDP1_HUMAN [view interactions] High throughput no yes
PKHA4_HUMAN [view interactions] High throughput no yes
FACD2_HUMAN [view interactions] High throughput no no
ANLN_HUMAN [view interactions] High throughput no yes
CHM4B_HUMAN [view entry] [view interactions] High throughput yes yes
ECT2_HUMAN [view interactions] High throughput no no
KIF14_HUMAN [view interactions] High throughput no no
KI20A_HUMAN [view interactions] High throughput no yes
AKT3_HUMAN [view interactions] High throughput no yes
CFAD_HUMAN [view interactions] High throughput no no
FNDC5_HUMAN [view interactions] High throughput no no
MAGA9_HUMAN [view interactions] High throughput no no
CABP2_HUMAN [view interactions] High throughput no no
CALL3_HUMAN [view interactions] High throughput no yes
RASEF_HUMAN [view interactions] High throughput no yes
SGF29_HUMAN [view interactions] High throughput no yes
BODG_HUMAN [view interactions] High throughput no no
FGL2_HUMAN [view interactions] High throughput no yes
CNTP2_HUMAN [view entry] [view interactions] High throughput yes yes
SIR6_HUMAN [view interactions] High throughput no yes
CDC42_HUMAN [view entry] [view interactions] High throughput yes yes
RHOG_HUMAN [view entry] [view interactions] High throughput yes no
RAC2_HUMAN [view entry] [view interactions] High throughput yes yes
RAC3_HUMAN [view entry] [view interactions] High throughput yes no
RHOC_HUMAN [view interactions] High throughput no no
RND2_HUMAN [view interactions] High throughput no no
BTF3_HUMAN [view interactions] High throughput no yes
CALD1_HUMAN [view entry] [view interactions] High throughput yes no
CALX_HUMAN [view entry] [view interactions] High throughput yes yes
CAPZB_HUMAN [view entry] [view interactions] High throughput yes yes
KPCD_HUMAN [view entry] [view interactions] High throughput yes yes
ACTS_HUMAN [view interactions] High throughput no no
RHG01_HUMAN [view entry] [view interactions] High throughput yes yes
HOME3_HUMAN [view entry] [view interactions] High throughput yes yes
KAPCA_HUMAN [view entry] [view interactions] High throughput yes yes
RYR2_HUMAN [view entry] [view interactions] High throughput yes yes
PP2BA_HUMAN [view entry] [view interactions] High throughput yes yes
LYN_HUMAN [view entry] [view interactions] High throughput yes no
OTULL_HUMAN [view interactions] High throughput no no
ST7_HUMAN [view interactions] High throughput no yes
FKBP8_HUMAN [view entry] [view interactions] High throughput yes yes
DJC16_HUMAN [view interactions] High throughput no no
DNJC1_HUMAN [view interactions] High throughput no yes
DJC25_HUMAN [view interactions] High throughput no yes
AT2A1_HUMAN [view entry] [view interactions] High throughput yes no
B3GA1_HUMAN [view interactions] High throughput no yes
BAP31_HUMAN [view interactions] High throughput no yes
DERL1_HUMAN [view interactions] High throughput no yes
ELOV5_HUMAN [view interactions] High throughput no yes
EMD_HUMAN [view interactions] High throughput no yes
CXD3_HUMAN [view interactions] High throughput no no
DHB11_HUMAN [view interactions] High throughput no yes
3BHS7_HUMAN [view interactions] High throughput no no
LNP_HUMAN [view interactions] High throughput no yes
MET7A_HUMAN [view interactions] High throughput no no
NU155_HUMAN [view interactions] High throughput no yes
PXMP2_HUMAN [view interactions] High throughput no no
RPN1_HUMAN [view entry] [view interactions] High throughput yes yes
RPN2_HUMAN [view entry] [view interactions] High throughput yes yes
SC61B_HUMAN [view interactions] High throughput no yes
SEC62_HUMAN [view interactions] High throughput no yes
SSRA_HUMAN [view entry] [view interactions] High throughput yes yes
TM11B_HUMAN [view interactions] High throughput no no
TMPS4_HUMAN [view interactions] High throughput no yes
RAB7A_HUMAN [view entry] [view interactions] High throughput yes yes
PASK_HUMAN [view interactions] High throughput no yes
ZDHC5_HUMAN [view entry] [view interactions] High throughput yes yes
CTBP1_HUMAN [view entry] [view interactions] High throughput yes yes
PLEC_HUMAN [view entry] [view interactions] High throughput yes yes
TAU_HUMAN [view entry] [view interactions] High throughput yes yes
SCRB2_HUMAN [view interactions] High throughput no yes
VMP1_HUMAN [view interactions] High throughput no yes
SHAN3_HUMAN [view entry] [view interactions] High throughput yes no
KS6A5_HUMAN [view entry] [view interactions] High throughput yes yes
KCC2G_HUMAN [view entry] [view interactions] High throughput yes yes
KCC2D_HUMAN [view entry] [view interactions] High throughput yes yes
AT1A1_HUMAN [view entry] [view interactions] High throughput yes no
AT1A2_HUMAN [view entry] [view interactions] High throughput yes yes
ITM2B_HUMAN [view interactions] High throughput no yes
HDAC4_HUMAN [view interactions] High throughput no yes
ASF1A_HUMAN [view interactions] High throughput no no
TRIO_HUMAN [view entry] [view interactions] High throughput yes yes
ERBB2_HUMAN [view entry] [view interactions] High throughput yes no
1433Z_HUMAN [view entry] [view interactions] High throughput yes yes
DISC1_HUMAN [view entry] [view interactions] High throughput yes no