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Q14643

- ITPR1_HUMAN

UniProt

Q14643 - ITPR1_HUMAN

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Protein
Inositol 1,4,5-trisphosphate receptor type 1
Gene
ITPR1, INSP3R1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate. 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 By similarity.

GO - Molecular functioni

  1. calcium ion transmembrane transporter activity Source: ProtInc
  2. inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Source: UniProtKB
  3. intracellular ligand-gated calcium channel activity Source: UniProtKB
  4. phosphatidylinositol binding Source: UniProtKB
  5. protein binding Source: UniProtKB

GO - Biological processi

  1. Fc-epsilon receptor signaling pathway Source: Reactome
  2. Fc-gamma receptor signaling pathway involved in phagocytosis Source: Reactome
  3. activation of phospholipase C activity Source: Reactome
  4. blood coagulation Source: Reactome
  5. calcium ion transport Source: UniProtKB
  6. endoplasmic reticulum calcium ion homeostasis Source: Ensembl
  7. energy reserve metabolic process Source: Reactome
  8. epidermal growth factor receptor signaling pathway Source: Reactome
  9. fibroblast growth factor receptor signaling pathway Source: Reactome
  10. innate immune response Source: Reactome
  11. inositol phosphate-mediated signaling Source: GOC
  12. intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress Source: UniProtKB
  13. neurotrophin TRK receptor signaling pathway Source: Reactome
  14. platelet activation Source: Reactome
  15. post-embryonic development Source: Ensembl
  16. regulation of insulin secretion Source: Reactome
  17. release of sequestered calcium ion into cytosol Source: UniProtKB
  18. response to hypoxia Source: BHF-UCL
  19. signal transduction Source: UniProtKB
  20. small molecule metabolic process Source: Reactome
  21. voluntary musculoskeletal movement Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Apoptosis, Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium

Enzyme and pathway databases

ReactomeiREACT_111064. DAG and IP3 signaling.
REACT_118700. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers.
REACT_15426. PLC beta mediated events.
REACT_160158. Role of phospholipids in phagocytosis.
REACT_162. Elevation of cytosolic Ca2+ levels.
REACT_163834. FCERI mediated Ca+2 mobilization.
REACT_172761. Ca2+ pathway.
REACT_18274. Glucagon-like Peptide-1 (GLP1) regulates insulin secretion.
REACT_18325. Regulation of insulin secretion.
REACT_2202. Effects of PIP2 hydrolysis.
REACT_23767. cGMP effects.
SignaLinkiQ14643.

Protein family/group databases

TCDBi1.A.3.2.6. the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Inositol 1,4,5-trisphosphate receptor type 1
Alternative name(s):
IP3 receptor isoform 1
Short name:
IP3R 1
Short name:
InsP3R1
Type 1 inositol 1,4,5-trisphosphate receptor
Short name:
Type 1 InsP3 receptor
Gene namesi
Name:ITPR1
Synonyms:INSP3R1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:6180. ITPR1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 22822282Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei2283 – 230321Helical; Reviewed prediction
Add
BLAST
Topological domaini2304 – 231411Lumenal Reviewed prediction
Add
BLAST
Transmembranei2315 – 233521Helical; Reviewed prediction
Add
BLAST
Topological domaini2336 – 236126Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei2362 – 238221Helical; Reviewed prediction
Add
BLAST
Topological domaini2383 – 240523Lumenal Reviewed prediction
Add
BLAST
Transmembranei2406 – 242621Helical; Reviewed prediction
Add
BLAST
Topological domaini2427 – 244822Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei2449 – 246921Helical; Reviewed prediction
Add
BLAST
Topological domaini2470 – 2577108Lumenal Reviewed prediction
Add
BLAST
Transmembranei2578 – 259821Helical; Reviewed prediction
Add
BLAST
Topological domaini2599 – 2758160Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. calcineurin complex Source: Ensembl
  2. endoplasmic reticulum Source: UniProtKB
  3. endoplasmic reticulum membrane Source: Reactome
  4. integral component of membrane Source: UniProtKB-KW
  5. nuclear inner membrane Source: Ensembl
  6. nucleolus Source: Ensembl
  7. platelet dense granule membrane Source: BHF-UCL
  8. platelet dense tubular network Source: BHF-UCL
  9. platelet dense tubular network membrane Source: Reactome
  10. postsynaptic density Source: Ensembl
  11. sarcoplasmic reticulum Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 15 (SCA15) [MIM:606658]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1059 – 10591P → L in SCA15. 1 Publication
VAR_069568
Spinocerebellar ataxia 29 (SCA29) [MIM:117360]: An autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti602 – 6021N → D in SCA29. 1 Publication
VAR_069567
Natural varianti1562 – 15621V → M in SCA29. 1 Publication
VAR_069569

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

MIMi117360. phenotype.
606658. phenotype.
Orphaneti98769. Spinocerebellar ataxia type 15/16.
208513. Spinocerebellar ataxia type 29.
PharmGKBiPA29978.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 27582758Inositol 1,4,5-trisphosphate receptor type 1
PRO_0000153920Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei482 – 4821Phosphotyrosine Reviewed prediction
Cross-linki917 – 917Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-linki972 – 972Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-linki1581 – 1581Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Modified residuei1598 – 15981Phosphoserine3 Publications
Modified residuei1764 – 17641Phosphoserine1 Publication
Cross-linki1780 – 1780Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-linki1893 – 1893Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-linki1894 – 1894Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-linki1895 – 1895Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-linki1910 – 1910Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-linki1933 – 1933Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-linki2127 – 2127Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-linki2266 – 2266Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Glycosylationi2512 – 25121N-linked (GlcNAc...)1 Publication
Modified residuei2664 – 26641Phosphotyrosine Reviewed prediction

Post-translational modificationi

Phosphorylated by cAMP kinase. Phosphorylation prevents the ligand-induced opening of the calcium channels By similarity.1 Publication
Phosphorylated on tyrosine residues.1 Publication
Ubiquitination at multiple lysines targets ITPR1 for proteasomal degradation. Approximately 40% of the ITPR1-associated ubiquitin is monoubiquitin, and polyubiquitins are both 'Lys-48'- and 'Lys-63'-linked By similarity.

Keywords - PTMi

Glycoprotein, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ14643.
PaxDbiQ14643.
PRIDEiQ14643.

PTM databases

PhosphoSiteiQ14643.

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

ArrayExpressiQ14643.
BgeeiQ14643.
CleanExiHS_ITPR1.
GenevestigatoriQ14643.

Organism-specific databases

HPAiHPA014765.
HPA016487.

Interactioni

Subunit structurei

Homotetramer. Interacts with TRPC4. The PPXXF motif binds HOM1, HOM2 and HOM3. Interacts with RYR1, RYR2, ITPR1, SHANK1 and SHANK3. Interacts with ERP44 in a pH-, redox state- and calcium-dependent manner which results in the inhibition the calcium channel activity. The strength of this interaction inversely correlates with calcium concentration. Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1. Interacts with AHCYL1 By similarity. Interacts with MRVI1 and CABP1 (via N-terminus). Interacts with TESPA1.5 Publications

Protein-protein interaction databases

BioGridi109913. 30 interactions.
DIPiDIP-29714N.
IntActiQ14643. 3 interactions.
MINTiMINT-4991320.
STRINGi9606.ENSP00000405934.

Structurei

3D structure databases

ProteinModelPortaliQ14643.
SMRiQ14643. Positions 7-580.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini112 – 16655MIR 1
Add
BLAST
Domaini173 – 22351MIR 2
Add
BLAST
Domaini231 – 28757MIR 3
Add
BLAST
Domaini294 – 37380MIR 4
Add
BLAST
Domaini379 – 43557MIR 5
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni265 – 2695Inositol 1,4,5-trisphosphate binding By similarity
Regioni508 – 5114Inositol 1,4,5-trisphosphate binding By similarity
Regioni567 – 5693Inositol 1,4,5-trisphosphate binding By similarity
Regioni2472 – 253766Interaction with ERP44 By similarity
Add
BLAST

Domaini

The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand-binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region.

Sequence similaritiesi

Belongs to the InsP3 receptor family.
Contains 5 MIR domains.

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG280601.
HOGENOMiHOG000007660.
HOVERGENiHBG052158.
InParanoidiQ14643.
KOiK04958.
OMAiKAFTTFR.
OrthoDBiEOG76HQ0M.
PhylomeDBiQ14643.
TreeFamiTF312815.

Family and domain databases

Gene3Di1.25.10.30. 2 hits.
InterProiIPR016024. ARM-type_fold.
IPR014821. Ins145_P3_rcpt.
IPR000493. InsP3_rcpt-bd.
IPR005821. Ion_trans_dom.
IPR016093. MIR_motif.
IPR013662. RIH_assoc-dom.
IPR000699. RIH_dom.
IPR015925. Ryanodine_recept-rel.
[Graphical view]
PANTHERiPTHR13715. PTHR13715. 1 hit.
PfamiPF08709. Ins145_P3_rec. 1 hit.
PF00520. Ion_trans. 1 hit.
PF02815. MIR. 1 hit.
PF08454. RIH_assoc. 1 hit.
PF01365. RYDR_ITPR. 2 hits.
[Graphical view]
PRINTSiPR00779. INSP3RECEPTR.
SMARTiSM00472. MIR. 4 hits.
[Graphical view]
SUPFAMiSSF100909. SSF100909. 2 hits.
SSF48371. SSF48371. 4 hits.
SSF82109. SSF82109. 2 hits.
PROSITEiPS50919. MIR. 5 hits.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. Align

Note: There is a combination of three alternatively spliced domains at site SI, SIII and site SII (A and C). Experimental confirmation may be lacking for some isoforms.

Isoform 1 (identifier: Q14643-1) [UniParc]FASTAAdd to Basket

Also known as: SISIIISIIAC

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MSDKMSSFLH IGDICSLYAE GSTNGFISTL GLVDDRCVVQ PETGDLNNPP     50
KKFRDCLFKL CPMNRYSAQK QFWKAAKPGA NSTTDAVLLN KLHHAADLEK 100
KQNETENRKL LGTVIQYGNV IQLLHLKSNK YLTVNKRLPA LLEKNAMRVT 150
LDEAGNEGSW FYIQPFYKLR SIGDSVVIGD KVVLNPVNAG QPLHASSHQL 200
VDNPGCNEVN SVNCNTSWKI VLFMKWSDNK DDILKGGDVV RLFHAEQEKF 250
LTCDEHRKKQ HVFLRTTGRQ SATSATSSKA LWEVEVVQHD PCRGGAGYWN 300
SLFRFKHLAT GHYLAAEVDP DFEEECLEFQ PSVDPDQDAS RSRLRNAQEK 350
MVYSLVSVPE GNDISSIFEL DPTTLRGGDS LVPRNSYVRL RHLCTNTWVH 400
STNIPIDKEE EKPVMLKIGT SPVKEDKEAF AIVPVSPAEV RDLDFANDAS 450
KVLGSIAGKL EKGTITQNER RSVTKLLEDL VYFVTGGTNS GQDVLEVVFS 500
KPNRERQKLM REQNILKQIF KLLQAPFTDC GDGPMLRLEE LGDQRHAPFR 550
HICRLCYRVL RHSQQDYRKN QEYIAKQFGF MQKQIGYDVL AEDTITALLH 600
NNRKLLEKHI TAAEIDTFVS LVRKNREPRF LDYLSDLCVS MNKSIPVTQE 650
LICKAVLNPT NADILIETKL VLSRFEFEGV SSTGENALEA GEDEEEVWLF 700
WRDSNKEIRS KSVRELAQDA KEGQKEDRDV LSYYRYQLNL FARMCLDRQY 750
LAINEISGQL DVDLILRCMS DENLPYDLRA SFCRLMLHMH VDRDPQEQVT 800
PVKYARLWSE IPSEIAIDDY DSSGASKDEI KERFAQTMEF VEEYLRDVVC 850
QRFPFSDKEK NKLTFEVVNL ARNLIYFGFY NFSDLLRLTK ILLAILDCVH 900
VTTIFPISKM AKGEENKGNN DVEKLKSSNV MRSIHGVGEL MTQVVLRGGG 950
FLPMTPMAAA PEGNVKQAEP EKEDIMVMDT KLKIIEILQF ILNVRLDYRI 1000
SCLLCIFKRE FDESNSQTSE TSSGNSSQEG PSNVPGALDF EHIEEQAEGI 1050
FGGSEENTPL DLDDHGGRTF LRVLLHLTMH DYPPLVSGAL QLLFRHFSQR 1100
QEVLQAFKQV QLLVTSQDVD NYKQIKQDLD QLRSIVEKSE LWVYKGQGPD 1150
ETMDGASGEN EHKKTEEGNN KPQKHESTSS YNYRVVKEIL IRLSKLCVQE 1200
SASVRKSRKQ QQRLLRNMGA HAVVLELLQI PYEKAEDTKM QEIMRLAHEF 1250
LQNFCAGNQQ NQALLHKHIN LFLNPGILEA VTMQHIFMNN FQLCSEINER 1300
VVQHFVHCIE THGRNVQYIK FLQTIVKAEG KFIKKCQDMV MAELVNSGED 1350
VLVFYNDRAS FQTLIQMMRS ERDRMDENSP LMYHIHLVEL LAVCTEGKNV 1400
YTEIKCNSLL PLDDIVRVVT HEDCIPEVKI AYINFLNHCY VDTEVEMKEI 1450
YTSNHMWKLF ENFLVDICRA CNNTSDRKHA DSILEKYVTE IVMSIVTTFF 1500
SSPFSDQSTT LQTRQPVFVQ LLQGVFRVYH CNWLMPSQKA SVESCIRVLS 1550
DVAKSRAIAI PVDLDSQVNN LFLKSHSIVQ KTAMNWRLSA RNAARRDSVL 1600
AASRDYRNII ERLQDIVSAL EDRLRPLVQA ELSVLVDVLH RPELLFPENT 1650
DARRKCESGG FICKLIKHTK QLLEENEEKL CIKVLQTLRE MMTKDRGYGE 1700
KLISIDELDN AELPPAPDSE NATEELEPSP PLRQLEDHKR GEALRQVLVN 1750
RYYGNVRPSG RRESLTSFGN GPLSAGGPGK PGGGGGGSGS SSMSRGEMSL 1800
AEVQCHLDKE GASNLVIDLI MNASSDRVFH ESILLAIALL EGGNTTIQHS 1850
FFCRLTEDKK SEKFFKVFYD RMKVAQQEIK ATVTVNTSDL GNKKKDDEVD 1900
RDAPSRKKAK EPTTQITEEV RDQLLEASAA TRKAFTTFRR EADPDDHYQP 1950
GEGTQATADK AKDDLEMSAV ITIMQPILRF LQLLCENHNR DLQNFLRCQN 2000
NKTNYNLVCE TLQFLDCICG STTGGLGLLG LYINEKNVAL INQTLESLTE 2050
YCQGPCHENQ NCIATHESNG IDIITALILN DINPLGKKRM DLVLELKNNA 2100
SKLLLAIMES RHDSENAERI LYNMRPKELV EVIKKAYMQG EVEFEDGENG 2150
EDGAASPRNV GHNIYILAHQ LARHNKELQS MLKPGGQVDG DEALEFYAKH 2200
TAQIEIVRLD RTMEQIVFPV PSICEFLTKE SKLRIYYTTE RDEQGSKIND 2250
FFLRSEDLFN EMNWQKKLRA QPVLYWCARN MSFWSSISFN LAVLMNLLVA 2300
FFYPFKGVRG GTLEPHWSGL LWTAMLISLA IVIALPKPHG IRALIASTIL 2350
RLIFSVGLQP TLFLLGAFNV CNKIIFLMSF VGNCGTFTRG YRAMVLDVEF 2400
LYHLLYLVIC AMGLFVHEFF YSLLLFDLVY REETLLNVIK SVTRNGRSII 2450
LTAVLALILV YLFSIVGYLF FKDDFILEVD RLPNETAVPE TGESLASEFL 2500
FSDVCRVESG ENCSSPAPRE ELVPAEETEQ DKEHTCETLL MCIVTVLSHG 2550
LRSGGGVGDV LRKPSKEEPL FAARVIYDLL FFFMVIIIVL NLIFGVIIDT 2600
FADLRSEKQK KEEILKTTCF ICGLERDKFD NKTVTFEEHI KEEHNMWHYL 2650
CFIVLVKVKD STEYTGPESY VAEMIKERNL DWFPRMRAMS LVSSDSEGEQ 2700
NELRNLQEKL ESTMKLVTNL SGQLSELKDQ MTEQRKQKQR IGLLGHPPHM 2750
NVNPQQPA 2758
Length:2,758
Mass (Da):313,929
Last modified:June 26, 2013 - v3
Checksum:iD29B072252B0D8E7
GO
Isoform 2 (identifier: Q14643-2) [UniParc]FASTAAdd to Basket

Also known as: SI-SIIISIIAC

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.

Show »
Length:2,743
Mass (Da):312,163
Checksum:iD0AA6DEC837C28AB
GO
Isoform 3 (identifier: Q14643-3) [UniParc]FASTAAdd to Basket

Also known as: SISIII-SII

The sequence of this isoform differs from the canonical sequence as follows:
     919-927: Missing.
     1702-1725: Missing.
     1726-1740: Missing.

Show »
Length:2,710
Mass (Da):308,539
Checksum:iC24313548F4DCBFC
GO
Isoform 4 (identifier: Q14643-4) [UniParc]FASTAAdd to Basket

Also known as: SI-SIII-SII

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.
     919-927: Missing.
     1702-1725: Missing.
     1726-1740: Missing.

Show »
Length:2,695
Mass (Da):306,773
Checksum:i92B35C092276D178
GO
Isoform 5 (identifier: Q14643-5) [UniParc]FASTAAdd to Basket

Also known as: SI-SIII-SIIAC

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.
     919-927: Missing.

Show »
Length:2,734
Mass (Da):311,135
Checksum:i5D714D3692B19AA3
GO
Isoform 6 (identifier: Q14643-6) [UniParc]FASTAAdd to Basket

Also known as: SISIIISIIA

The sequence of this isoform differs from the canonical sequence as follows:
     1726-1740: Missing.

Show »
Length:2,743
Mass (Da):312,132
Checksum:iEAFD59A4EFF360A5
GO
Isoform 7 (identifier: Q14643-7) [UniParc]FASTAAdd to Basket

Also known as: SI-SIII-SIIA

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.
     1726-1740: Missing.

Show »
Length:2,728
Mass (Da):310,366
Checksum:i01927170B33E0F70
GO
Isoform 8 (identifier: Q14643-8) [UniParc]FASTAAdd to Basket

Also known as: SI-SIII-SIIA

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.
     919-927: Missing.
     1726-1740: Missing.

Show »
Length:2,719
Mass (Da):309,338
Checksum:i35A642696397A7EF
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti602 – 6021N → D in SCA29. 1 Publication
VAR_069567
Natural varianti769 – 7691M → V.
Corresponds to variant rs35789999 [ dbSNP | Ensembl ].
VAR_037005
Natural varianti1059 – 10591P → L in SCA15. 1 Publication
VAR_069568
Natural varianti1430 – 14301I → V.
Corresponds to variant rs3749383 [ dbSNP | Ensembl ].
VAR_037006
Natural varianti1562 – 15621V → M in SCA29. 1 Publication
VAR_069569

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei322 – 33615Missing in isoform 2, isoform 4, isoform 5, isoform 7 and isoform 8.
VSP_002687Add
BLAST
Alternative sequencei919 – 9279Missing in isoform 3, isoform 4, isoform 5 and isoform 8.
VSP_002688
Alternative sequencei1702 – 172524Missing in isoform 3 and isoform 4.
VSP_002689Add
BLAST
Alternative sequencei1726 – 174015Missing in isoform 3, isoform 4, isoform 6, isoform 7 and isoform 8.
VSP_002690Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1557 – 158125AIAIP…SIVQK → HCHSRGPGQPSQQPLSQVPQ HCAE in AAD14386. 1 Publication
Add
BLAST
Sequence conflicti2302 – 23021F → L in AAB04947. 1 Publication
Sequence conflicti2305 – 23051F → L in AAB04947. 1 Publication
Sequence conflicti2448 – 24481S → A in U23850. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D26070 mRNA. Translation: BAA05065.1.
L38019 mRNA. Translation: AAB04947.2.
U23850 mRNA. No translation available.
AC018816 Genomic DNA. No translation available.
AC024168 Genomic DNA. No translation available.
AC069248 Genomic DNA. No translation available.
AC090944 Genomic DNA. No translation available.
S82269 mRNA. Translation: AAD14386.1.
CCDSiCCDS46740.2. [Q14643-3]
CCDS54550.1. [Q14643-4]
CCDS54551.1. [Q14643-2]
PIRiA55713.
S54974.
RefSeqiNP_001093422.2. NM_001099952.2. [Q14643-3]
NP_002213.5. NM_002222.5. [Q14643-4]
UniGeneiHs.567295.
Hs.715765.

Genome annotation databases

EnsembliENST00000302640; ENSP00000306253; ENSG00000150995. [Q14643-2]
ENST00000357086; ENSP00000349597; ENSG00000150995. [Q14643-3]
ENST00000443694; ENSP00000401671; ENSG00000150995. [Q14643-2]
ENST00000456211; ENSP00000397885; ENSG00000150995. [Q14643-4]
GeneIDi3708.
KEGGihsa:3708.
UCSCiuc021wsi.1. human. [Q14643-3]
uc021wsj.1. human. [Q14643-4]

Polymorphism databases

DMDMi519668682.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D26070 mRNA. Translation: BAA05065.1 .
L38019 mRNA. Translation: AAB04947.2 .
U23850 mRNA. No translation available.
AC018816 Genomic DNA. No translation available.
AC024168 Genomic DNA. No translation available.
AC069248 Genomic DNA. No translation available.
AC090944 Genomic DNA. No translation available.
S82269 mRNA. Translation: AAD14386.1 .
CCDSi CCDS46740.2. [Q14643-3 ]
CCDS54550.1. [Q14643-4 ]
CCDS54551.1. [Q14643-2 ]
PIRi A55713.
S54974.
RefSeqi NP_001093422.2. NM_001099952.2. [Q14643-3 ]
NP_002213.5. NM_002222.5. [Q14643-4 ]
UniGenei Hs.567295.
Hs.715765.

3D structure databases

ProteinModelPortali Q14643.
SMRi Q14643. Positions 7-580.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109913. 30 interactions.
DIPi DIP-29714N.
IntActi Q14643. 3 interactions.
MINTi MINT-4991320.
STRINGi 9606.ENSP00000405934.

Chemistry

BindingDBi Q14643.
ChEMBLi CHEMBL2111451.
GuidetoPHARMACOLOGYi 743.

Protein family/group databases

TCDBi 1.A.3.2.6. the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family.

PTM databases

PhosphoSitei Q14643.

Polymorphism databases

DMDMi 519668682.

Proteomic databases

MaxQBi Q14643.
PaxDbi Q14643.
PRIDEi Q14643.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000302640 ; ENSP00000306253 ; ENSG00000150995 . [Q14643-2 ]
ENST00000357086 ; ENSP00000349597 ; ENSG00000150995 . [Q14643-3 ]
ENST00000443694 ; ENSP00000401671 ; ENSG00000150995 . [Q14643-2 ]
ENST00000456211 ; ENSP00000397885 ; ENSG00000150995 . [Q14643-4 ]
GeneIDi 3708.
KEGGi hsa:3708.
UCSCi uc021wsi.1. human. [Q14643-3 ]
uc021wsj.1. human. [Q14643-4 ]

Organism-specific databases

CTDi 3708.
GeneCardsi GC03P004486.
GeneReviewsi ITPR1.
HGNCi HGNC:6180. ITPR1.
HPAi HPA014765.
HPA016487.
MIMi 117360. phenotype.
147265. gene.
606658. phenotype.
neXtProti NX_Q14643.
Orphaneti 98769. Spinocerebellar ataxia type 15/16.
208513. Spinocerebellar ataxia type 29.
PharmGKBi PA29978.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG280601.
HOGENOMi HOG000007660.
HOVERGENi HBG052158.
InParanoidi Q14643.
KOi K04958.
OMAi KAFTTFR.
OrthoDBi EOG76HQ0M.
PhylomeDBi Q14643.
TreeFami TF312815.

Enzyme and pathway databases

Reactomei REACT_111064. DAG and IP3 signaling.
REACT_118700. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers.
REACT_15426. PLC beta mediated events.
REACT_160158. Role of phospholipids in phagocytosis.
REACT_162. Elevation of cytosolic Ca2+ levels.
REACT_163834. FCERI mediated Ca+2 mobilization.
REACT_172761. Ca2+ pathway.
REACT_18274. Glucagon-like Peptide-1 (GLP1) regulates insulin secretion.
REACT_18325. Regulation of insulin secretion.
REACT_2202. Effects of PIP2 hydrolysis.
REACT_23767. cGMP effects.
SignaLinki Q14643.

Miscellaneous databases

ChiTaRSi ITPR1. human.
GeneWikii ITPR1.
GenomeRNAii 3708.
NextBioi 14533.
PROi Q14643.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q14643.
Bgeei Q14643.
CleanExi HS_ITPR1.
Genevestigatori Q14643.

Family and domain databases

Gene3Di 1.25.10.30. 2 hits.
InterProi IPR016024. ARM-type_fold.
IPR014821. Ins145_P3_rcpt.
IPR000493. InsP3_rcpt-bd.
IPR005821. Ion_trans_dom.
IPR016093. MIR_motif.
IPR013662. RIH_assoc-dom.
IPR000699. RIH_dom.
IPR015925. Ryanodine_recept-rel.
[Graphical view ]
PANTHERi PTHR13715. PTHR13715. 1 hit.
Pfami PF08709. Ins145_P3_rec. 1 hit.
PF00520. Ion_trans. 1 hit.
PF02815. MIR. 1 hit.
PF08454. RIH_assoc. 1 hit.
PF01365. RYDR_ITPR. 2 hits.
[Graphical view ]
PRINTSi PR00779. INSP3RECEPTR.
SMARTi SM00472. MIR. 4 hits.
[Graphical view ]
SUPFAMi SSF100909. SSF100909. 2 hits.
SSF48371. SSF48371. 4 hits.
SSF82109. SSF82109. 2 hits.
PROSITEi PS50919. MIR. 5 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human inositol 1,4,5-trisphosphate type-1 receptor, InsP3R1: structure, function, regulation of expression and chromosomal localization."
    Yamada N., Makino Y., Clark R.A., Pearson D.W., Mattei M.-G., Guenet J.-L., Ohama E., Fujino I., Miyawaki A., Furuichi T., Mikoshiba K.
    Biochem. J. 302:781-790(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
    Tissue: Myeloid and Uterus.
  2. "The human type 1 inositol 1,4,5-trisphosphate receptor from T lymphocytes. Structure, localization, and tyrosine phosphorylation."
    Harnick D.J., Jayaraman T., Ma Y., Mulieri P., Go L.O., Marks A.R.
    J. Biol. Chem. 270:2833-2840(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), PHOSPHORYLATION.
    Tissue: T-cell.
  3. Marks A.
    Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION TO 431; 1012-1017; 1460; 1823; 2324; 2330; 2334; 2337; 2346; 2358; 2361; 2372; 2396; 2418; 2426; 2434 AND 2741.
  4. "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."
    Nucifora F.C. Jr., Li S.-H., Danoff S., Ullrich A., Ross C.A.
    Brain Res. Mol. Brain Res. 32:291-296(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING.
    Tissue: Brain.
  5. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "Induction of inositol 1,4,5 trisphosphate receptor genes by ionizing radiation."
    Yan J., Khanna K.K., Lavin M.F.
    Int. J. Radiat. Biol. 69:539-546(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1548-1723 (ISOFORMS 3 AND 4).
  7. "Identification of a family of calcium sensors as protein ligands of inositol trisphosphate receptor Ca(2+) release channels."
    Yang J., McBride S., Mak D.-O.D., Vardi N., Palczewski K., Haeseleer F., Foskett J.K.
    Proc. Natl. Acad. Sci. U.S.A. 99:7711-7716(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CABP1.
  8. Cited for: INTERACTION WITH CABP1.
  9. "Subtype-specific and ER lumenal environment-dependent regulation of inositol 1,4,5-trisphosphate receptor type 1 by ERp44."
    Higo T., Hattori M., Nakamura T., Natsume T., Michikawa T., Mikoshiba K.
    Cell 120:85-98(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ERP44.
  10. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1598, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "IRAG mediates NO/cGMP-dependent inhibition of platelet aggregation and thrombus formation."
    Antl M., von Bruehl M.-L., Eiglsperger C., Werner M., Konrad I., Kocher T., Wilm M., Hofmann F., Massberg S., Schlossmann J.
    Blood 109:552-559(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MRVI1.
  12. Cited for: INVOLVEMENT IN SCA15.
  13. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1598 AND SER-1764, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  14. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-2512.
    Tissue: Liver.
  15. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1598, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  16. "Tespa1 is a novel inositol 1,4,5-trisphosphate receptor binding protein in T and B lymphocytes."
    Matsuzaki H., Fujimoto T., Ota T., Ogawa M., Tsunoda T., Doi K., Hamabashiri M., Tanaka M., Shirasawa S.
    FEBS Open Bio 2:255-259(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TESPA1.
  17. Cited for: VARIANT SCA15 LEU-1059.
  18. "Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia."
    Huang L., Chardon J.W., Carter M.T., Friend K.L., Dudding T.E., Schwartzentruber J., Zou R., Schofield P.W., Douglas S., Bulman D.E., Boycott K.M.
    Orphanet J. Rare Dis. 7:67-67(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SCA29 ASP-602 AND MET-1562.

Entry informationi

Entry nameiITPR1_HUMAN
AccessioniPrimary (citable) accession number: Q14643
Secondary accession number(s): E7EPX7
, E9PDE9, Q14660, Q99897
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 2, 2001
Last sequence update: June 26, 2013
Last modified: September 3, 2014
This is version 163 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Calcium appears to inhibit ligand binding to the receptor, most probably by interacting with a distinct calcium-binding protein which then inhibits the receptor.

Caution

Alternative splice sites (AA 1053-1054) represent a non-canonical GA-AG donor-acceptor pair, but are well-supported by all available human transcripts, and by homologous transcripts in mouse, rat and cow.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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