• Gene id: 3710

Gene Summary

• Gene Symbol: ITPR3   Gene   UCSC   Ensembl
• Aliases: IP3R, IP3R3
• Gene name: inositol 1,4,5-trisphosphate receptor type 3
• Alternate names: inositol 1,4,5-trisphosphate receptor type 3, IP3 receptor, inositol 1,4,5-triphosphate receptor, type 3, insP3R3, type 3 InsP3 receptor,
• Gene location: 6p21.31 (33621321: 33696561)     Exons: 59     NC_000006.12
• Gene summary(Entrez): This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies
• OMIM: 147267

SNPs

rs35576928

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281137C>A
NC_000016.10   g.11281137C>G
NC_000016.9   g.11374994C>A
NC_000016.9   g.11374994C>G
NM_002761.3   c.102G>T
NM_002761.3   c.102G>C
NM_002761.2   c.102G>T
NM_002761.2   c.102G>C
NP_002752.1   p.Arg34Ser
NP_002752.1   p.Arg34Ser|SEQ=[C/A/G]|GE

rs2301365

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281429G>T
NC_000016.9   g.11375286G>T|SEQ=[G/T]|GENE=PRM1
LOC105371082   105371082

rs2070923

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11275998G>C
NC_000016.10   g.11275998G>T
NC_000016.9   g.11369855G>C
NC_000016.9   g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2
LOC105371082   105371082

rs1646022

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11276073C>G
NC_000016.10   g.11276073C>T
NC_000016.9   g.11369930C>G
NC_000016.9   g.11369930C>T
NM_001286359.1   c.298G>C
NM_001286359.1   c.298G>A
NM_001286359.2   c.298G>C
NM_001286359.2   c.298G>A
NP_001273288.1   p.Ala100Pro
NP_001273288.1   p.Ala1

rs737008

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281009G>A
NC_000016.10   g.11281009G>T
NC_000016.9   g.11374866G>A
NC_000016.9   g.11374866G>T
NM_002761.3   c.139C>T
NM_002761.3   c.139C>A
NM_002761.2   c.139C>T
NM_002761.2   c.139C>A
NP_002752.1   p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1
LOC1053710  

Protein Summary

• Protein general information: Q14573  
  • Name: Inositol 1,4,5 trisphosphate receptor type 3 (IP3 receptor isoform 3) (IP3R 3) (InsP3R3) (Type 3 inositol 1,4,5 trisphosphate receptor) (Type 3 InsP3 receptor)
  • Length: 2671  
  • Mass: 304106
  • Tissue specificity: Expressed in intestinal crypt and villus epithelial cells.
• Sequence:

  MSEMSSFLHIGDIVSLYAEGSVNGFISTLGLVDDRCVVEPAAGDLDNPPKKFRDCLFKVCPMNRYSAQKQYWKAK
  QTKQDKEKIADVVLLQKLQHAAQMEQKQNDTENKKVHGDVVKYGSVIQLLHMKSNKYLTVNKRLPALLEKNAMRV
  TLDATGNEGSWLFIQPFWKLRSNGDNVVVGDKVILNPVNAGQPLHASNYELSDNAGCKEVNSVNCNTSWKINLFM
  QFRDHLEEVLKGGDVVRLFHAEQEKFLTCDEYKGKLQVFLRTTLRQSATSATSSNALWEVEVVHHDPCRGGAGHW
  NGLYRFKHLATGNYLAAEENPSYKGDASDPKAAGMGAQGRTGRRNAGEKIKYCLVAVPHGNDIASLFELDPTTLQ
  KTDSFVPRNSYVRLRHLCTNTWIQSTNVPIDIEEERPIRLMLGTCPTKEDKEAFAIVSVPVSEIRDLDFANDASS
  MLASAVEKLNEGFISQNDRRFVIQLLEDLVFFVSDVPNNGQNVLDIMVTKPNRERQKLMREQNILKQVFGILKAP
  FREKGGEGPLVRLEELSDQKNAPYQHMFRLCYRVLRHSQEDYRKNQEHIAKQFGMMQSQIGYDILAEDTITALLH
  NNRKLLEKHITKTEVETFVSLVRKNREPRFLDYLSDLCVSNHIAIPVTQELICKCVLDPKNSDILIRTELRPVKE
  MAQSHEYLSIEYSEEEVWLTWTDKNNEHHEKSVRQLAQEARAGNAHDENVLSYYRYQLKLFARMCLDRQYLAIDE
  ISQQLGVDLIFLCMADEMLPFDLRASFCHLMLHVHVDRDPQELVTPVKFARLWTEIPTAITIKDYDSNLNASRDD
  KKNKFANTMEFVEDYLNNVVSEAVPFANEEKNKLTFEVVSLAHNLIYFGFYSFSELLRLTRTLLGIIDCVQGPPA
  MLQAYEDPGGKNVRRSIQGVGHMMSTMVLSRKQSVFSAPSLSAGASAAEPLDRSKFEENEDIVVMETKLKILEIL
  QFILNVRLDYRISYLLSVFKKEFVEVFPMQDSGADGTAPAFDSTTANMNLDRIGEQAEAMFGVGKTSSMLEVDDE
  GGRMFLRVLIHLTMHDYAPLVSGALQLLFKHFSQRQEAMHTFKQVQLLISAQDVENYKVIKSELDRLRTMVEKSE
  LWVDKKGSGKGEEVEAGAAKDKKERPTDEEGFLHPPGEKSSENYQIVKGILERLNKMCGVGEQMRKKQQRLLKNM
  DAHKVMLDLLQIPYDKGDAKMMEILRYTHQFLQKFCAGNPGNQALLHKHLHLFLTPGLLEAETMQHIFLNNYQLC
  SEISEPVLQHFVHLLATHGRHVQYLDFLHTVIKAEGKYVKKCQDMIMTELTNAGDDVVVFYNDKASLAHLLDMMK
  AARDGVEDHSPLMYHISLVDLLAACAEGKNVYTEIKCTSLLPLEDVVSVVTHEDCITEVKMAYVNFVNHCYVDTE
  VEMKEIYTSNHIWTLFENFTLDMARVCSKREKRVADPTLEKYVLSVVLDTINAFFSSPFSENSTSLQTHQTIVVQ
  LLQSTTRLLECPWLQQQHKGSVEACIRTLAMVAKGRAILLPMDLDAHISSMLSSGASCAAAAQRNASSYKATTRA
  FPRVTPTANQWDYKNIIEKLQDIITALEERLKPLVQAELSVLVDVLHWPELLFLEGSEAYQRCESGGFLSKLIQH
  TKDLMESEEKLCIKVLRTLQQMLLKKTKYGDRGNQLRKMLLQNYLQNRKSTSRGDLPDPIGTGLDPDWSAIAATQ
  CRLDKEGATKLVCDLITSTKNEKIFQESIGLAIHLLDGGNTEIQKSFHNLMMSDKKSERFFKVLHDRMKRAQQET
  KSTVAVNMNDLGSQPHEDREPVDPTTKGRVASFSIPGSSSRYSLGPSLRRGHEVSERVQSSEMGTSVLIMQPILR
  FLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDIMCGSTTGGLGLLGLYINEDNVGLVIQTLETLTEYCQG
  PCHENQTCIVTHESNGIDIITALILNDISPLCKYRMDLVLQLKDNASKLLLALMESRHDSENAERILISLRPQEL
  VDVIKKAYLQEEERENSEVSPREVGHNIYILALQLSRHNKQLQHLLKPVKRIQEEEAEGISSMLSLNNKQLSQML
  KSSAPAQEEEEDPLAYYENHTSQIEIVRQDRSMEQIVFPVPGICQFLTEETKHRLFTTTEQDEQGSKVSDFFDQS
  SFLHNEMEWQRKLRSMPLIYWFSRRMTLWGSISFNLAVFINIIIAFFYPYMEGASTGVLDSPLISLLFWILICFS
  IAALFTKRYSIRPLIVALILRSIYYLGIGPTLNILGALNLTNKIVFVVSFVGNRGTFIRGYKAMVMDMEFLYHVG
  YILTSVLGLFAHELFYSILLFDLIYREETLFNVIKSVTRNGRSILLTALLALILVYLFSIVGFLFLKDDFILEVD
  RLPNNHSTASPLGMPHGAAAFVDTCSGDKMDCVSGLSVPEVLEEDRELDSTERACDTLLMCIVTVMNHGLRNGGG
  VGDILRKPSKDESLFPARVVYDLLFFFIVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDN
  KTVSFEEHIKLEHNMWNYLYFIVLVRVKNKTDYTGPESYVAQMIKNKNLDWFPRMRAMSLVSNEGEGEQNEIRIL
  QDKLNSTMKLVSHLTAQLNELKEQMTEQRKRRQRLGFVDVQNCISR

• Structural information:
  • Protein Domains: (113..17-)
    (/note="MIR-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (174..22-)
    (/note="MIR-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (232..28-)
    (/note="MIR-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (-)
  • Interpro: IPR014821  IPR000493  IPR005821  IPR036300  IPR016093   IPR013662  IPR000699  IPR035910  
  • Prosite: PS50919
  • PDB: 6DQJ 6DQN 6DQS 6DQV 6DQZ 6DR0 6DR2 6DRA 6DRC
  • PDBsum: 6DQJ 6DQN 6DQS 6DQV 6DQZ 6DR0 6DR2 6DRA 6DRC
  • STRING: ENSP00000363435
• Other Databases: GeneCards:  ITPR3  Malacards:  ITPR3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0016529	sarcoplasmic reticulum	IBA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IBA	cellular component
GO:0070679	inositol 1,4,5 trisphosphate binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0030667	secretory granule membrane	IBA	cellular component
GO:0035091	phosphatidylinositol binding	IBA	molecular function
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISS	molecular function
GO:0060402	calcium ion transport into cytosol	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015278	calcium-release channel activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0070679	inositol 1,4,5 trisphosphate binding	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0043235	receptor complex	IDA	cellular component
GO:0031095	platelet dense tubular network membrane	TAS	cellular component
GO:0031095	platelet dense tubular network membrane	TAS	cellular component
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0030168	platelet activation	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060291	long-term synaptic potentiation	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IEA	molecular function
GO:0060402	calcium ion transport into cytosol	IEA	biological process
GO:0050917	sensory perception of umami taste	IEA	biological process
GO:0050916	sensory perception of sweet taste	IEA	biological process
GO:0050913	sensory perception of bitter taste	IEA	biological process
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0015278	calcium-release channel activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IDA	molecular function
GO:0070679	inositol 1,4,5 trisphosphate binding	IDA	molecular function
GO:0000822	inositol hexakisphosphate binding	ISS	molecular function
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043533	inositol 1,3,4,5 tetrakisphosphate binding	ISS	molecular function
GO:0051592	response to calcium ion	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0043209	myelin sheath	ISS	cellular component
GO:0045177	apical part of cell	ISS	cellular component
GO:0005640	nuclear outer membrane	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005903	brush border	ISS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	ISS	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05012	Parkinson disease
hsa05131	Shigellosis
hsa05163	Human cytomegalovirus infection
hsa04020	Calcium signaling pathway
hsa05170	Human immunodeficiency virus 1 infection
hsa05205	Proteoglycans in cancer
hsa04022	cGMP-PKG signaling pathway
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04621	NOD-like receptor signaling pathway
hsa04723	Retrograde endocannabinoid signaling
hsa05017	Spinocerebellar ataxia
hsa04934	Cushing syndrome
hsa04921	Oxytocin signaling pathway
hsa04371	Apelin signaling pathway
hsa04218	Cellular senescence
hsa04728	Dopaminergic synapse
hsa04724	Glutamatergic synapse
hsa04270	Vascular smooth muscle contraction
hsa04114	Oocyte meiosis
hsa04611	Platelet activation
hsa04210	Apoptosis
hsa04725	Cholinergic synapse
hsa04070	Phosphatidylinositol signaling system
hsa04935	Growth hormone synthesis, secretion and action
hsa04915	Estrogen signaling pathway
hsa04726	Serotonergic synapse
hsa04922	Glucagon signaling pathway
hsa04713	Circadian entrainment
hsa04625	C-type lectin receptor signaling pathway
hsa04925	Aldosterone synthesis and secretion
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04972	Pancreatic secretion
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04970	Salivary secretion
hsa04912	GnRH signaling pathway
hsa04911	Insulin secretion
hsa04540	Gap junction
hsa04971	Gastric acid secretion
hsa04918	Thyroid hormone synthesis
hsa04742	Taste transduction
hsa04720	Long-term potentiation
hsa04924	Renin secretion
hsa04927	Cortisol synthesis and secretion
hsa04929	GnRH secretion
hsa04730	Long-term depression

Diseases

Associated diseases	References
Type 1 diabetes mellitus	KEGG:H00408
Type 1 diabetes mellitus	KEGG:H00408
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray