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Q15413

- RYR3_HUMAN

UniProt

Q15413 - RYR3_HUMAN

Protein

Ryanodine receptor 3

Gene

RYR3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 146 (01 Oct 2014)
      Sequence version 3 (08 Mar 2011)
      Previous versions | rss
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    Functioni

    Calcium channel that mediates the release of Ca2+ from the sarcoplasmic reticulum into the cytoplasm in muscle and thereby plays a role in triggering muscle contraction. May regulate Ca2+ release by other calcium channels. Calcium channel that mediates Ca2+-induced Ca2+ release from the endoplasmic reticulum in non-muscle cells. Contributes to cellular calcium ion homeostasis By similarity. Plays a role in cellular calcium signaling.By similarity1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei3883 – 38831Important for activation by Ca(2+)By similarity

    GO - Molecular functioni

    1. calcium-induced calcium release activity Source: Ensembl
    2. calcium ion binding Source: InterPro
    3. calcium-release channel activity Source: UniProtKB
    4. ryanodine-sensitive calcium-release channel activity Source: UniProtKB

    GO - Biological processi

    1. calcium ion transmembrane transport Source: UniProtKB
    2. calcium ion transport Source: UniProtKB
    3. cellular response to ATP Source: UniProtKB
    4. cellular response to caffeine Source: UniProtKB
    5. cellular response to calcium ion Source: UniProtKB
    6. cellular response to magnesium ion Source: UniProtKB
    7. ion transmembrane transport Source: Reactome
    8. negative regulation of cytosolic calcium ion concentration Source: Ensembl
    9. protein homotetramerization Source: UniProtKB
    10. striated muscle contraction Source: Ensembl
    11. transmembrane transport Source: Reactome

    Keywords - Molecular functioni

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

    Keywords - Biological processi

    Calcium transport, Ion transport, Transport

    Keywords - Ligandi

    Calcium, Calmodulin-binding

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ryanodine receptor 3
    Short name:
    RYR-3
    Short name:
    RyR3
    Alternative name(s):
    Brain ryanodine receptor-calcium release channel
    Brain-type ryanodine receptor
    Type 3 ryanodine receptor
    Gene namesi
    Name:RYR3
    Synonyms:HBRR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:10485. RYR3.

    Subcellular locationi

    Sarcoplasmic reticulum membrane Curated; Multi-pass membrane protein Curated. Membrane Curated; Multi-pass membrane protein Curated. Microsome membrane By similarity; Multi-pass membrane protein By similarity
    Note: The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic.By similarity

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB
    2. junctional membrane complex Source: Ensembl
    3. perinuclear region of cytoplasm Source: Ensembl
    4. sarcoplasmic reticulum membrane Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome, Sarcoplasmic reticulum

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA34897.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 48704870Ryanodine receptor 3PRO_0000219363Add
    BLAST

    Proteomic databases

    PaxDbiQ15413.
    PRIDEiQ15413.

    PTM databases

    PhosphoSiteiQ15413.

    Expressioni

    Tissue specificityi

    Brain, skeletal muscle, placenta and possibly liver and kidney. In brain, highest levels are found in the cerebellum, hippocampus, caudate nucleus and amygdala, with lower levels in the corpus callosum, substantia nigra and thalamus.2 Publications

    Gene expression databases

    BgeeiQ15413.
    CleanExiHS_RYR3.
    GenevestigatoriQ15413.

    Organism-specific databases

    HPAiCAB006887.

    Interactioni

    Subunit structurei

    Homotetramer. Heterotetramer with RYR2. Interacts with CALM By similarity. Interacts with FKBP1A.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi112175. 7 interactions.
    IntActiQ15413. 2 interactions.
    STRINGi9606.ENSP00000373884.

    Structurei

    Secondary structure

    1
    4870
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi2612 – 263524
    Turni2646 – 26494
    Helixi2657 – 26593
    Helixi2662 – 268120
    Beta strandi2685 – 26884
    Helixi2695 – 270410
    Helixi2723 – 27253
    Helixi2730 – 275728
    Helixi2769 – 27713
    Helixi2774 – 279219
    Turni2793 – 27953
    Beta strandi2796 – 27994

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4ERVX-ray1.75A2597-2800[»]
    ProteinModelPortaliQ15413.
    SMRiQ15413. Positions 13-532, 2598-2800, 3469-3495.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 41864186CytoplasmicBy similarityAdd
    BLAST
    Topological domaini4774 – 487097CytoplasmicBy similarityAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei4723 – 473210Pore-formingBy similarity

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei4187 – 420721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei4410 – 443021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei4485 – 450521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei4610 – 463021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei4633 – 465321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei4672 – 469221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei4753 – 477321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini100 – 15556MIR 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini162 – 20746MIR 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini215 – 26955MIR 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini275 – 33359MIR 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini343 – 40058MIR 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini585 – 796212B30.2/SPRY 1PROSITE-ProRule annotationAdd
    BLAST
    Repeati840 – 9531141Add
    BLAST
    Repeati954 – 10681152Add
    BLAST
    Domaini1012 – 1208197B30.2/SPRY 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1254 – 1466213B30.2/SPRY 3PROSITE-ProRule annotationAdd
    BLAST
    Repeati2589 – 27071193Add
    BLAST
    Repeati2708 – 28201134Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni840 – 282019814 X approximate repeatsAdd
    BLAST
    Regioni2322 – 233514Interaction with FKBP1AAdd
    BLAST
    Regioni3469 – 349830Interaction with CALMBy similarityAdd
    BLAST

    Domaini

    The calcium release channel activity resides in the C-terminal region while the remaining part of the protein resides in the cytoplasm.Curated

    Sequence similaritiesi

    Contains 3 B30.2/SPRY domains.PROSITE-ProRule annotation
    Contains 5 MIR domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG247670.
    HOGENOMiHOG000231428.
    HOVERGENiHBG006699.
    InParanoidiQ15413.
    KOiK04963.
    OMAiIDQVDPF.
    OrthoDBiEOG71K622.
    PhylomeDBiQ15413.
    TreeFamiTF315244.

    Family and domain databases

    Gene3Di1.10.238.10. 1 hit.
    1.25.10.30. 1 hit.
    InterProiIPR016024. ARM-type_fold.
    IPR001870. B30.2/SPRY.
    IPR008985. ConA-like_lec_gl_sf.
    IPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    IPR014821. Ins145_P3_rcpt.
    IPR005821. Ion_trans_dom.
    IPR016093. MIR_motif.
    IPR013662. RIH_assoc-dom.
    IPR000699. RIH_dom.
    IPR013333. Ryan_recept.
    IPR003032. Ryanodine_rcpt.
    IPR015925. Ryanodine_recept-rel.
    IPR009460. Ryanrecept_TM4-6.
    IPR018355. SPla/RYanodine_receptor_subgr.
    IPR003877. SPRY_rcpt.
    [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.
    PF06459. RR_TM4-6. 1 hit.
    PF01365. RYDR_ITPR. 2 hits.
    PF02026. RyR. 4 hits.
    PF00622. SPRY. 3 hits.
    [Graphical view]
    PRINTSiPR00795. RYANODINER.
    SMARTiSM00472. MIR. 4 hits.
    SM00449. SPRY. 3 hits.
    [Graphical view]
    SUPFAMiSSF100909. SSF100909. 1 hit.
    SSF48371. SSF48371. 10 hits.
    SSF49899. SSF49899. 3 hits.
    SSF82109. SSF82109. 2 hits.
    PROSITEiPS50188. B302_SPRY. 3 hits.
    PS50919. MIR. 5 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q15413-1) [UniParc]FASTAAdd to Basket

    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

    MAEGGEGGED EIQFLRTEDE VVLQCIATIH KEQRKFCLAA EGLGNRLCFL     50
    EPTSEAKYIP PDLCVCNFVL EQSLSVRALQ EMLANTGENG GEGAAQGGGH 100
    RTLLYGHAVL LRHSFSGMYL TCLTTSRSQT DKLAFDVGLR EHATGEACWW 150
    TIHPASKQRS EGEKVRIGDD LILVSVSSER YLHLSVSNGN IQVDASFMQT 200
    LWNVHPTCSG SSIEEGYLLG GHVVRLFHGH DECLTIPSTD QNDSQHRRIF 250
    YEAGGAGTRA RSLWRVEPLR ISWSGSNIRW GQAFRLRHLT TGHYLALTED 300
    QGLILQDRAK SDTKSTAFSF RASKELKEKL DSSHKRDIEG MGVPEIKYGD 350
    SVCFVQHIAS GLWVTYKAQD AKTSRLGPLK RKVILHQEGH MDDGLTLQRC 400
    QREESQAARI IRNTTALFSQ FVSGNNRTAA PITLPIEEVL QTLQDLIAYF 450
    QPPEEEMRHE DKQNKLRSLK NRQNLFKEEG MLALVLNCID RLNVYNSVAH 500
    FAGIAREESG MAWKEILNLL YKLLAALIRG NRNNCAQFSN NLDWLISKLD 550
    RLESSSGILE VLHCILTESP EALNLIAEGH IKSIISLLDK HGRNHKVLDI 600
    LCSLCLCNGV AVRANQNLIC DNLLPRRNLL LQTRLINDVT SIRPNIFLGV 650
    AEGSAQYKKW YFELIIDQVD PFLTAEPTHL RVGWASSSGY APYPGGGEGW 700
    GGNGVGDDLY SYGFDGLHLW SGRIPRAVAS INQHLLRSDD VVSCCLDLGV 750
    PSISFRINGQ PVQGMFENFN TDGLFFPVMS FSAGVKVRFL MGGRHGEFKF 800
    LPPSGYAPCY EALLPKEKMR LEPVKEYKRD ADGIRDLLGT TQFLSQASFI 850
    PCPVDTSQVI LPPHLEKIRD RLAENIHELW GMNKIELGWT FGKIRDDNKR 900
    QHPCLVEFSK LPETEKNYNL QMSTETLKTL LALGCHIAHV NPAAEEDLKK 950
    VKLPKNYMMS NGYKPAPLDL SDVKLLPPQE ILVDKLAENA HNVWAKDRIK 1000
    QGWTYGIQQD LKNKRNPRLV PYALLDERTK KSNRDSLREA VRTFVGYGYN 1050
    IEPSDQELAD SAVEKVSIDK IRFFRVERSY AVRSGKWYFE FEVVTGGDMR 1100
    VGWARPGCRP DVELGADDQA FVFEGNRGQR WHQGSGYFGR TWQPGDVVGC 1150
    MINLDDASMI FTLNGELLIT NKGSELAFAD YEIENGFVPI CCLGLSQIGR 1200
    MNLGTDASTF KFYTMCGLQE GFEPFAVNMN RDVAMWFSKR LPTFVNVPKD 1250
    HPHIEVMRID GTMDSPPCLK VTHKTFGTQN SNADMIYCRL SMPVECHSSF 1300
    SHSPCLDSEA FQKRKQMQEI LSHTTTQCYY AIRIFAGQDP SCVWVGWVTP 1350
    DYHLYSEKFD LNKNCTVTVT LGDERGRVHE SVKRSNCYMV WGGDIVASSQ 1400
    RSNRSNVDLE IGCLVDLAMG MLSFSANGKE LGTCYQVEPN TKVFPAVFLQ 1450
    PTSTSLFQFE LGKLKNAMPL SAAIFRSEEK NPVPQCPPRL DVQTIQPVLW 1500
    SRMPNSFLKV ETERVSERHG WVVQCLEPLQ MMALHIPEEN RCVDILELCE 1550
    QEDLMRFHYH TLRLYSAVCA LGNSRVAYAL CSHVDLSQLF YAIDNKYLPG 1600
    LLRSGFYDLL ISIHLASAKE RKLMMKNEYI IPITSTTRNI RLFPDESKRH 1650
    GLPGVGLRTC LKPGFRFSTP CFVVTGEDHQ KQSPEIPLES LRTKALSMLT 1700
    EAVQCSGAHI RDPVGGSVEF QFVPVLKLIG TLLVMGVFDD DDVRQILLLI 1750
    DPSVFGEHSA GTEEGAEKEE VTQVEEKAVE AGEKAGKEAP VKGLLQTRLP 1800
    ESVKLQMCEL LSYLCDCELQ HRVEAIVAFG DIYVSKLQAN QKFRYNELMQ 1850
    ALNMSAALTA RKTKEFRSPP QEQINMLLNF QLGENCPCPE EIREELYDFH 1900
    EDLLLHCGVP LEEEEEEEED TSWTGKLCAL VYKIKGPPKP EKEQPTEEEE 1950
    RCPTTLKELI SQTMICWAQE DQIQDSELVR MMFNLLRRQY DSIGELLQAL 2000
    RKTYTISHTS VSDTINLLAA LGQIRSLLSV RMGKEEELLM INGLGDIMNN 2050
    KVFYQHPNLM RVLGMHETVM EVMVNVLGTE KSQIAFPKMV ASCCRFLCYF 2100
    CRISRQNQKA MFEHLSYLLE NSSVGLASPS MRGSTPLDVA ASSVMDNNEL 2150
    ALSLEEPDLE KVVTYLAGCG LQSCPMLLAK GYPDVGWNPI EGERYLSFLR 2200
    FAVFVNSESV EENASVVVKL LIRRPECFGP ALRGEGGNGL LAAMQGAIKI 2250
    SENPALDLPS QGYKREVSTG DDEEEEEIVH MGNAIMSFYS ALIDLLGRCA 2300
    PEMHLIQTGK GEAIRIRSIL RSLVPTEDLV GIISIPLKLP SLNKDGSVSE 2350
    PDMAANFCPD HKAPMVLFLD RVYGIKDQTF LLHLLEVGFL PDLRASASLD 2400
    TVSLSTTEAA LALNRYICSA VLPLLTRCAP LFAGTEHCTS LIDSTLQTIY 2450
    RLSKGRSLTK AQRDTIEECL LAICNHLRPS MLQQLLRRLV FDVPQLNEYC 2500
    KMPLKLLTNH YEQCWKYYCL PSGWGSYGLA VEEELHLTEK LFWGIFDSLS 2550
    HKKYDPDLFR MALPCLSAIA GALPPDYLDT RITATLEKQI SVDADGNFDP 2600
    KPINTMNFSL PEKLEYIVTK YAEHSHDKWA CDKSQSGWKY GISLDENVKT 2650
    HPLIRPFKTL TEKEKEIYRW PARESLKTML AVGWTVERTK EGEALVQQRE 2700
    NEKLRSVSQA NQGNSYSPAP LDLSNVVLSR ELQGMVEVVA ENYHNIWAKK 2750
    KKLELESKGG GSHPLLVPYD TLTAKEKFKD REKAQDLFKF LQVNGIIVSR 2800
    GMKDMELDAS SMEKRFAYKF LKKILKYVDS AQEFIAHLEA IVSSGKTEKS 2850
    PRDQEIKFFA KVLLPLVDQY FTSHCLYFLS SPLKPLSSSG YASHKEKEMV 2900
    AGLFCKLAAL VRHRISLFGS DSTTMVSCLH ILAQTLDTRT VMKSGSELVK 2950
    AGLRAFFENA AEDLEKTSEN LKLGKFTHSR TQIKGVSQNI NYTTVALLPI 3000
    LTSIFEHVTQ HQFGMDLLLG DVQISCYHIL CSLYSLGTGK NIYVERQRPA 3050
    LGECLASLAA AIPVAFLEPT LNRYNPLSVF NTKTPRERSI LGMPDTVEDM 3100
    CPDIPQLEGL MKEINDLAES GARYTEMPHV IEVILPMLCN YLSYWWERGP 3150
    ENLPPSTGPC CTKVTSEHLS LILGNILKII NNNLGIDEAS WMKRIAVYAQ 3200
    PIISKARPDL LRSHFIPTLE KLKKKAVKTV QEEEQLKADG KGDTQEAELL 3250
    ILDEFAVLCR DLYAFYPMLI RYVDNNRSNW LKSPDADSDQ LFRMVAEVFI 3300
    LWCKSHNFKR EEQNFVIQNE INNLAFLTGD SKSKMSKAMQ VKSGGQDQER 3350
    KKTKRRGDLY SIQTSLIVAA LKKMLPIGLN MCTPGDQELI SLAKSRYSHR 3400
    DTDEEVREHL RNNLHLQEKS DDPAVKWQLN LYKDVLKSEE PFNPEKTVER 3450
    VQRISAAVFH LEQVEQPLRS KKAVWHKLLS KQRKRAVVAC FRMAPLYNLP 3500
    RHRSINLFLH GYQRFWIETE EYSFEEKLVQ DLAKSPKVEE EEEEETEKQP 3550
    DPLHQIILYF SRNALTERSK LEDDPLYTSY SSMMAKSCQS GEDEEEDEDK 3600
    EKTFEEKEME KQKTLYQQAR LHERGAAEMV LQMISASKGE MSPMVVETLK 3650
    LGIAILNGGN AGVQQKMLDY LKEKKDAGFF QSLSGLMQSC SVLDLNAFER 3700
    QNKAEGLGMV TEEGTLIVRE RGEKVLQNDE FTRDLFRFLQ LLCEGHNSDF 3750
    QNFLRTQMGN TTTVNVIIST VDYLLRLQES ISDFYWYYSG KDIIDESGQH 3800
    NFSKALAVTK QIFNSLTEYI QGPCIGNQQS LAHSRLWDAV VGFLHVFANM 3850
    QMKLSQDSSQ IELLKELLDL LQDMVVMLLS LLEGNVVNGT IGKQMVDTLV 3900
    ESSTNVEMIL KFFDMFLKLK DLTSSDTFKE YDPDGKGIIS KKEFQKAMEG 3950
    QKQYTQSEID FLLSCAEADE NDMFNYVDFV DRFHEPAKDI GFNVAVLLTN 4000
    LSEHMPNDSR LKCLLDPAES VLNYFEPYLG RIEIMGGAKK IERVYFEISE 4050
    SSRTQWEKPQ VKESKRQFIF DVVNEGGEQE KMELFVNFCE DTIFEMQLAS 4100
    QISESDSADR PEEEEEDEDS SYVLEIAGEE EEDGSLEPAS AFAMACASVK 4150
    RNVTDFLKRA TLKNLRKQYR NVKKMTAKEL VKVLFSFFWM LFVGLFQLLF 4200
    TILGGIFQIL WSTVFGGGLV EGAKNIRVTK ILGDMPDPTQ FGIHDDTMEA 4250
    ERAEVMEPGI TTELVHFIKG EKGDTDIMSD LFGLHPKKEG SLKHGPEVGL 4300
    GDLSEIIGKD EPPTLESTVQ KKRKAQAAEM KAANEAEGKV ESEKADMEDG 4350
    EKEDKDKEEE QAEYLWTEVT KKKKRRCGQK VEKPEAFTAN FFKGLEIYQT 4400
    KLLHYLARNF YNLRFLALFV AFAINFILLF YKVTEEPLEE ETEDVANLWN 4450
    SFNDEEEEEA MVFFVLQEST GYMAPTLRAL AIIHTIISLV CVVGYYCLKV 4500
    PLVVFKREKE IARKLEFDGL YITEQPSEDD IKGQWDRLVI NTPSFPNNYW 4550
    DKFVKRKVIN KYGDLYGAER IAELLGLDKN ALDFSPVEET KAEAASLVSW 4600
    LSSIDMKYHI WKLGVVFTDN SFLYLAWYTT MSVLGHYNNF FFAAHLLDIA 4650
    MGFKTLRTIL SSVTHNGKQL VLTVGLLAVV VYLYTVVAFN FFRKFYNKSE 4700
    DDDEPDMKCD DMMTCYLFHM YVGVRAGGGI GDEIEDPAGD PYEMYRIVFD 4750
    ITFFFFVIVI LLAIIQGLII DAFGELRDQQ EQVREDMETK CFICGIGNDY 4800
    FDTTPHGFET HTLQEHNLAN YLFFLMYLIN KDETEHTGQE SYVWKMYQER 4850
    CWDFFPAGDC FRKQYEDQLG 4870
    Length:4,870
    Mass (Da):552,042
    Last modified:March 8, 2011 - v3
    Checksum:iB953487A89FD480F
    GO
    Isoform 2 (identifier: Q15413-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         3337-3341: Missing.

    Show »
    Length:4,865
    Mass (Da):551,484
    Checksum:i1967DCA6B019C276
    GO
    Isoform 3 (identifier: Q15413-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         3857-3859: DSS → GMW
         3860-4870: Missing.

    Show »
    Length:3,859
    Mass (Da):435,934
    Checksum:i637F449F56BDEB60
    GO

    Sequence cautioni

    The sequence BAA23795.1 differs from that shown. Reason: Frameshift at positions 742 and 766.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti932 – 9321A → T in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti1081 – 10811A → P in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti1336 – 13361A → G in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti1480 – 14801K → E in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti1641 – 16411R → C in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti1641 – 16411R → C in CAA04798. (PubMed:9515741)Curated
    Sequence conflicti2270 – 22701G → E in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti2270 – 22701G → E in CAA04798. (PubMed:9515741)Curated
    Sequence conflicti2355 – 23551A → G in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti2433 – 24331A → G in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti2546 – 25461F → I in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti2580 – 25801T → S in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti2817 – 28171A → G in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti3684 – 36841S → P in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti3698 – 36981F → S in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti4026 – 40261E → G in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti4083 – 40831E → G in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti4537 – 45371R → P in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti4604 – 46041I → L in BAA23795. (PubMed:9395096)Curated
    Sequence conflicti4709 – 47091C → R in CAA52326. (PubMed:8276408)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti261 – 2611R → S.1 Publication
    VAR_024077
    Natural varianti358 – 3581I → T.
    Corresponds to variant rs2304380 [ dbSNP | Ensembl ].
    VAR_057166
    Natural varianti494 – 4941V → I.1 Publication
    Corresponds to variant rs2077268 [ dbSNP | Ensembl ].
    VAR_024078
    Natural varianti693 – 6931Y → C.1 Publication
    VAR_011404
    Natural varianti731 – 7311I → V.1 Publication
    Corresponds to variant rs2229116 [ dbSNP | Ensembl ].
    VAR_011405
    Natural varianti1380 – 13801E → G.1 Publication
    VAR_011406
    Natural varianti2268 – 22681Missing.1 Publication
    VAR_011407

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei3337 – 33415Missing in isoform 2. 1 PublicationVSP_005954
    Alternative sequencei3857 – 38593DSS → GMW in isoform 3. CuratedVSP_005955
    Alternative sequencei3860 – 48701011Missing in isoform 3. CuratedVSP_005956Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB001025 mRNA. Translation: BAA23795.1. Frameshift.
    AJ001515 mRNA. Translation: CAA04798.1.
    AC010809 Genomic DNA. No translation available.
    AC011938 Genomic DNA. No translation available.
    AC055874 Genomic DNA. No translation available.
    AC067793 Genomic DNA. No translation available.
    AC087638 Genomic DNA. No translation available.
    AJ002512 mRNA. Translation: CAA05503.1.
    X74269 mRNA. Translation: CAA52326.1.
    X74270 Genomic DNA. Translation: CAA52327.1.
    CCDSiCCDS45210.1. [Q15413-1]
    CCDS58351.1. [Q15413-2]
    PIRiS37537.
    S66631.
    RefSeqiNP_001027.3. NM_001036.3. [Q15413-1]
    NP_001230925.1. NM_001243996.1. [Q15413-2]
    UniGeneiHs.709373.

    Genome annotation databases

    EnsembliENST00000389232; ENSP00000373884; ENSG00000198838. [Q15413-1]
    ENST00000415757; ENSP00000399610; ENSG00000198838. [Q15413-2]
    GeneIDi6263.
    KEGGihsa:6263.
    UCSCiuc001zhi.3. human. [Q15413-1]
    uc010bar.3. human. [Q15413-2]

    Polymorphism databases

    DMDMi325511382.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Ryanodine receptor entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB001025 mRNA. Translation: BAA23795.1 . Frameshift.
    AJ001515 mRNA. Translation: CAA04798.1 .
    AC010809 Genomic DNA. No translation available.
    AC011938 Genomic DNA. No translation available.
    AC055874 Genomic DNA. No translation available.
    AC067793 Genomic DNA. No translation available.
    AC087638 Genomic DNA. No translation available.
    AJ002512 mRNA. Translation: CAA05503.1 .
    X74269 mRNA. Translation: CAA52326.1 .
    X74270 Genomic DNA. Translation: CAA52327.1 .
    CCDSi CCDS45210.1. [Q15413-1 ]
    CCDS58351.1. [Q15413-2 ]
    PIRi S37537.
    S66631.
    RefSeqi NP_001027.3. NM_001036.3. [Q15413-1 ]
    NP_001230925.1. NM_001243996.1. [Q15413-2 ]
    UniGenei Hs.709373.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4ERV X-ray 1.75 A 2597-2800 [» ]
    ProteinModelPortali Q15413.
    SMRi Q15413. Positions 13-532, 2598-2800, 3469-3495.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112175. 7 interactions.
    IntActi Q15413. 2 interactions.
    STRINGi 9606.ENSP00000373884.

    Chemistry

    BindingDBi Q15413.
    ChEMBLi CHEMBL2062.
    GuidetoPHARMACOLOGYi 749.

    PTM databases

    PhosphoSitei Q15413.

    Polymorphism databases

    DMDMi 325511382.

    Proteomic databases

    PaxDbi Q15413.
    PRIDEi Q15413.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000389232 ; ENSP00000373884 ; ENSG00000198838 . [Q15413-1 ]
    ENST00000415757 ; ENSP00000399610 ; ENSG00000198838 . [Q15413-2 ]
    GeneIDi 6263.
    KEGGi hsa:6263.
    UCSCi uc001zhi.3. human. [Q15413-1 ]
    uc010bar.3. human. [Q15413-2 ]

    Organism-specific databases

    CTDi 6263.
    GeneCardsi GC15P033603.
    H-InvDB HIX0038065.
    HGNCi HGNC:10485. RYR3.
    HPAi CAB006887.
    MIMi 180903. gene.
    neXtProti NX_Q15413.
    PharmGKBi PA34897.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG247670.
    HOGENOMi HOG000231428.
    HOVERGENi HBG006699.
    InParanoidi Q15413.
    KOi K04963.
    OMAi IDQVDPF.
    OrthoDBi EOG71K622.
    PhylomeDBi Q15413.
    TreeFami TF315244.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    GeneWikii RYR3.
    GenomeRNAii 6263.
    NextBioi 24329.
    PROi Q15413.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q15413.
    CleanExi HS_RYR3.
    Genevestigatori Q15413.

    Family and domain databases

    Gene3Di 1.10.238.10. 1 hit.
    1.25.10.30. 1 hit.
    InterProi IPR016024. ARM-type_fold.
    IPR001870. B30.2/SPRY.
    IPR008985. ConA-like_lec_gl_sf.
    IPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    IPR014821. Ins145_P3_rcpt.
    IPR005821. Ion_trans_dom.
    IPR016093. MIR_motif.
    IPR013662. RIH_assoc-dom.
    IPR000699. RIH_dom.
    IPR013333. Ryan_recept.
    IPR003032. Ryanodine_rcpt.
    IPR015925. Ryanodine_recept-rel.
    IPR009460. Ryanrecept_TM4-6.
    IPR018355. SPla/RYanodine_receptor_subgr.
    IPR003877. SPRY_rcpt.
    [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.
    PF06459. RR_TM4-6. 1 hit.
    PF01365. RYDR_ITPR. 2 hits.
    PF02026. RyR. 4 hits.
    PF00622. SPRY. 3 hits.
    [Graphical view ]
    PRINTSi PR00795. RYANODINER.
    SMARTi SM00472. MIR. 4 hits.
    SM00449. SPRY. 3 hits.
    [Graphical view ]
    SUPFAMi SSF100909. SSF100909. 1 hit.
    SSF48371. SSF48371. 10 hits.
    SSF49899. SSF49899. 3 hits.
    SSF82109. SSF82109. 2 hits.
    PROSITEi PS50188. B302_SPRY. 3 hits.
    PS50919. MIR. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and characterization of a human brain ryanodine receptor."
      Nakashima Y., Nishimura S., Maeda A., Barsoumian E.L., Hakamata Y., Nakai J., Allen P.D., Imoto K., Kita T.
      FEBS Lett. 417:157-162(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
      Tissue: Brain.
    2. "cDNA cloning and sequencing of the human ryanodine receptor type 3 (RYR3) reveals a novel alternative splice site in the RYR3 gene."
      Leeb T., Brenig B.
      FEBS Lett. 423:367-370(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANTS SER-261; ILE-494; CYS-693; VAL-731; GLY-1380 AND SER-2268 DEL.
      Tissue: Fetal brain.
    3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum."
      Martin C., Chapman K.E., Seckl J.R., Ashley R.H.
      Neuroscience 85:205-216(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 520-660, TISSUE SPECIFICITY.
      Tissue: Skeletal muscle.
    5. "Involvement of the brain type of ryanodine receptor in T-cell proliferation."
      Hakamata Y., Nishimura S., Nakai J., Nakashima Y., Kita T., Imoto K.
      FEBS Lett. 352:206-210(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3943-4870.
      Tissue: T-cell.
    6. "Localization of a novel ryanodine receptor gene (RYR3) to human chromosome 15q14-q15 by in situ hybridization."
      Sorrentino V., Giannini G., Malzac P., Mattei M.-G.
      Genomics 18:163-165(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 4644-4842.
      Tissue: Cervix carcinoma and Hepatoma.
    7. "Isolation and partial cloning of ryanodine-sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle."
      Lynn S., Morgan J.M., Lamb H.K., Meissner G., Gillespie J.I.
      FEBS Lett. 372:6-12(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4652-4803.
      Tissue: Myometrium.
    8. "Knock-down of the type 3 ryanodine receptor impairs sustained Ca2+ signaling via the T cell receptor/CD3 complex."
      Schwarzmann N., Kunerth S., Weber K., Mayr G.W., Guse A.H.
      J. Biol. Chem. 277:50636-50642(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    9. "Characterization of the binding sites for the interactions between FKBP12 and intracellular calcium release channels."
      Wen H., Kang S., Song Y., Song Y., Yang H.J., Kim M.H., Park S.
      Arch. Biochem. Biophys. 517:37-42(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH FKBP1A.

    Entry informationi

    Entry nameiRYR3_HUMAN
    AccessioniPrimary (citable) accession number: Q15413
    Secondary accession number(s): O15175, Q15412
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2001
    Last sequence update: March 8, 2011
    Last modified: October 1, 2014
    This is version 146 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

    Channel activity is modulated by the alkaloid ryanodine that binds to the open calcium-release channel with high affinity. At low concentrations, ryanodine maintains the channel in an open conformation. High ryanodine concentrations inhibit channel activity. Channel activity is regulated by calmodulin (CALM). The calcium release is activated by elevated cytoplasmic calcium levels in the micromolar range, by caffeine and adenine nucleotides, such as AMP and ATP. Inhibited by Mg2+ and ruthenium red By similarity.By similarity

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3