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1.A.3.2.6
Inositol 1,4,5-trisphosphate receptor type 1 (IP3 receptor isoform 1) (IP3R 1) (InsP3R1) (Type 1 inositol 1,4,5-trisphosphate receptor) (Type 1 InsP3 receptor) of 2758 aas and 6 TMSs. An intronic variant in ITPR1 causes Gillespie syndrome, characterized by bilateral symmetric partial aplasia of the iris presenting as a fixed and large pupil, cerebellar hypoplasia with ataxia, congenital hypotonia, and varying levels of intellectual disability (Keehan et al. 2021). The cryoEM structure has been determined (Baker et al. 2021).

Accession Number:Q14643
Protein Name:Inositol 1,4,5-trisphosphate receptor type 1
Length:2758
Molecular Weight:313945.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:6
Location1 / Topology2 / Orientation3: Endoplasmic reticulum membrane1 / Multi-pass membrane protein2
Substrate Ca2+

Cross database links:

DIP: DIP-29714N
Entrez Gene ID: 3708   
Pfam: PF08709    PF00520    PF02815    PF08454    PF01365   
KEGG: hsa:3708   

Gene Ontology

GO:0005789 C:endoplasmic reticulum membrane
GO:0016021 C:integral to membrane
GO:0031088 C:platelet dense granule membrane
GO:0031095 C:platelet dense tubular network membrane
GO:0015085 F:calcium ion transmembrane transporter activity
GO:0005220 F:inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO:0005218 F:intracellular ligand-gated calcium channel activity
GO:0035091 F:phosphatidylinositol binding
GO:0007202 P:activation of phospholipase C activity
GO:0008219 P:cell death
GO:0006112 P:energy reserve metabolic process
GO:0007173 P:epidermal growth factor receptor signaling pathway
GO:0008543 P:fibroblast growth factor receptor signaling pathway
GO:0048011 P:nerve growth factor receptor signaling pathway
GO:0030168 P:platelet activation
GO:0050796 P:regulation of insulin secretion
GO:0001666 P:response to hypoxia
GO:0044281 P:small molecule metabolic process

References (16)

[1] “Human inositol 1,4,5-trisphosphate type-1 receptor, InsP3R1: structure, function, regulation of expression and chromosomal localization.”  Yamada N.et.al.   7945203
[2] “The human type 1 inositol 1,4,5-trisphosphate receptor from T lymphocytes. Structure, localization, and tyrosine phosphorylation.”  Harnick D.J.et.al.   7852357
[3] “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.et.al.   7500840
[4] “The DNA sequence, annotation and analysis of human chromosome 3.”  Muzny D.M.et.al.   16641997
[5] “Induction of inositol 1,4,5 trisphosphate receptor genes by ionizing radiation.”  Yan J.et.al.   8648241
[6] “Identification of a family of calcium sensors as protein ligands of inositol trisphosphate receptor Ca(2+) release channels.”  Yang J.et.al.   12032348
[7] “Regulation of InsP3 receptor activity by neuronal Ca2+-binding proteins.”  Kasri N.N.et.al.   14685260
[8] “Subtype-specific and ER lumenal environment-dependent regulation of inositol 1,4,5-trisphosphate receptor type 1 by ERp44.”  Higo T.et.al.   15652484
[9] “Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.”  Olsen J.V.et.al.   17081983
[10] “IRAG mediates NO/cGMP-dependent inhibition of platelet aggregation and thrombus formation.”  Antl M.et.al.   16990611
[11] “Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.”  van de Leemput J.et.al.   17590087
[12] “Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.”  Wang B.et.al.   19007248
[13] “Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.”  Daub H.et.al.   18691976
[14] “A quantitative atlas of mitotic phosphorylation.”  Dephoure N.et.al.   18669648
[15] “Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.”  Chen R.et.al.   19159218
[16] “Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.”  Mayya V.et.al.   19690332
Structure:
3jav     

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MSDKMSSFLH IGDICSLYAE GSTNGFISTL GLVDDRCVVQ PETGDLNNPP KKFRDCLFKL 
61:	CPMNRYSAQK QFWKAAKPGA NSTTDAVLLN KLHHAADLEK KQNETENRKL LGTVIQYGNV 
121:	IQLLHLKSNK YLTVNKRLPA LLEKNAMRVT LDEAGNEGSW FYIQPFYKLR SIGDSVVIGD 
181:	KVVLNPVNAG QPLHASSHQL VDNPGCNEVN SVNCNTSWKI VLFMKWSDNK DDILKGGDVV 
241:	RLFHAEQEKF LTCDEHRKKQ HVFLRTTGRQ SATSATSSKA LWEVEVVQHD PCRGGAGYWN 
301:	SLFRFKHLAT GHYLAAEVDP DFEEECLEFQ PSVDPDQDAS RSRLRNAQEK MVYSLVSVPE 
361:	GNDISSIFEL DPTTLRGGDS LVPRNSYVRL RHLCTNTWVH STNIPIDKEE EKPVMLKIGT 
421:	SPVKEDKEAF AIVPVSPAEV RDLDFANDAS KVLGSIAGKL EKGTITQNER RSVTKLLEDL 
481:	VYFVTGGTNS GQDVLEVVFS KPNRERQKLM REQNILKQIF KLLQAPFTDC GDGPMLRLEE 
541:	LGDQRHAPFR HICRLCYRVL RHSQQDYRKN QEYIAKQFGF MQKQIGYDVL AEDTITALLH 
601:	NNRKLLEKHI TAAEIDTFVS LVRKNREPRF LDYLSDLCVS MNKSIPVTQE LICKAVLNPT 
661:	NADILIETKL VLSRFEFEGV SSTGENALEA GEDEEEVWLF WRDSNKEIRS KSVRELAQDA 
721:	KEGQKEDRDV LSYYRYQLNL FARMCLDRQY LAINEISGQL DVDLILRCMS DENLPYDLRA 
781:	SFCRLMLHMH VDRDPQEQVT PVKYARLWSE IPSEIAIDDY DSSGASKDEI KERFAQTMEF 
841:	VEEYLRDVVC QRFPFSDKEK NKLTFEVVNL ARNLIYFGFY NFSDLLRLTK ILLAILDCVH 
901:	VTTIFPISKM AKGEENKGNN DVEKLKSSNV MRSIHGVGEL MTQVVLRGGG FLPMTPMAAA 
961:	PEGNVKQAEP EKEDIMVMDT KLKIIEILQF ILNVRLDYRI SCLLCIFKRE FDESNSQTSE 
1021:	TSSGNSSQEG PSNVPGALDF EHIEEQAEGI FGGSEENTPL DLDDHGGRTF LRVLLHLTMH 
1081:	DYPPLVSGAL QLLFRHFSQR QEVLQAFKQV QLLVTSQDVD NYKQIKQDLD QLRSIVEKSE 
1141:	LWVYKGQGPD ETMDGASGEN EHKKTEEGNN KPQKHESTSS YNYRVVKEIL IRLSKLCVQE 
1201:	SASVRKSRKQ QQRLLRNMGA HAVVLELLQI PYEKAEDTKM QEIMRLAHEF LQNFCAGNQQ 
1261:	NQALLHKHIN LFLNPGILEA VTMQHIFMNN FQLCSEINER VVQHFVHCIE THGRNVQYIK 
1321:	FLQTIVKAEG KFIKKCQDMV MAELVNSGED VLVFYNDRAS FQTLIQMMRS ERDRMDENSP 
1381:	LMYHIHLVEL LAVCTEGKNV YTEIKCNSLL PLDDIVRVVT HEDCIPEVKI AYINFLNHCY 
1441:	VDTEVEMKEI YTSNHMWKLF ENFLVDICRA CNNTSDRKHA DSILEKYVTE IVMSIVTTFF 
1501:	SSPFSDQSTT LQTRQPVFVQ LLQGVFRVYH CNWLMPSQKA SVESCIRVLS DVAKSRAIAI 
1561:	PVDLDSQVNN LFLKSHSIVQ KTAMNWRLSA RNAARRDSVL AASRDYRNII ERLQDIVSAL 
1621:	EDRLRPLVQA ELSVLVDVLH RPELLFPENT DARRKCESGG FICKLIKHTK QLLEENEEKL 
1681:	CIKVLQTLRE MMTKDRGYGE KLISIDELDN AELPPAPDSE NSTEELEPSP PLRQLEDHKR 
1741:	GEALRQVLVN RYYGNVRPSG RRESLTSFGN GPLSAGGPGK PGGGGGGSGS SSMSRGEMSL 
1801:	AEVQCHLDKE GASNLVIDLI MNASSDRVFH ESILLAIALL EGGNTTIQHS FFCRLTEDKK 
1861:	SEKFFKVFYD RMKVAQQEIK ATVTVNTSDL GNKKKDDEVD RDAPSRKKAK EPTTQITEEV 
1921:	RDQLLEASAA TRKAFTTFRR EADPDDHYQP GEGTQATADK AKDDLEMSAV ITIMQPILRF 
1981:	LQLLCENHNR DLQNFLRCQN NKTNYNLVCE TLQFLDCICG STTGGLGLLG LYINEKNVAL 
2041:	INQTLESLTE YCQGPCHENQ NCIATHESNG IDIITALILN DINPLGKKRM DLVLELKNNA 
2101:	SKLLLAIMES RHDSENAERI LYNMRPKELV EVIKKAYMQG EVEFEDGENG EDGAASPRNV 
2161:	GHNIYILAHQ LARHNKELQS MLKPGGQVDG DEALEFYAKH TAQIEIVRLD RTMEQIVFPV 
2221:	PSICEFLTKE SKLRIYYTTE RDEQGSKIND FFLRSEDLFN EMNWQKKLRA QPVLYWCARN 
2281:	MSFWSSISFN LAVLMNLLVA FFYPFKGVRG GTLEPHWSGL LWTAMLISLA IVIALPKPHG 
2341:	IRALIASTIL RLIFSVGLQP TLFLLGAFNV CNKIIFLMSF VGNCGTFTRG YRAMVLDVEF 
2401:	LYHLLYLVIC AMGLFVHEFF YSLLLFDLVY REETLLNVIK SVTRNGRSII LTAVLALILV 
2461:	YLFSIVGYLF FKDDFILEVD RLPNETAVPE TGESLASEFL FSDVCRVESG ENCSSPAPRE 
2521:	ELVPAEETEQ DKEHTCETLL MCIVTVLSHG LRSGGGVGDV LRKPSKEEPL FAARVIYDLL 
2581:	FFFMVIIIVL NLIFGVIIDT FADLRSEKQK KEEILKTTCF ICGLERDKFD NKTVTFEEHI 
2641:	KEEHNMWHYL CFIVLVKVKD STEYTGPESY VAEMIKERNL DWFPRMRAMS LVSSDSEGEQ 
2701:	NELRNLQEKL ESTMKLVTNL SGQLSELKDQ MTEQRKQKQR IGLLGHPPHM NVNPQQPA