SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q15413

- RYR3_HUMAN

UniProt

Q15413 - RYR3_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Ryanodine receptor 3
Gene
RYR3, HBRR
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.1 Publication

Sites

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

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. calcium-induced calcium release activity Source: Ensembl
  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
Complete GO annotation...

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; Multi-pass membrane protein Inferred. Membrane; Multi-pass membrane protein Inferred. Microsome membrane; 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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 41864186Cytoplasmic By similarity
Add
BLAST
Transmembranei4187 – 420721Helical; Reviewed prediction
Add
BLAST
Transmembranei4410 – 443021Helical; Reviewed prediction
Add
BLAST
Transmembranei4485 – 450521Helical; Reviewed prediction
Add
BLAST
Transmembranei4610 – 463021Helical; Reviewed prediction
Add
BLAST
Transmembranei4633 – 465321Helical; Reviewed prediction
Add
BLAST
Transmembranei4672 – 469221Helical; Reviewed prediction
Add
BLAST
Intramembranei4723 – 473210Pore-forming; By similarity
Transmembranei4753 – 477321Helical; Reviewed prediction
Add
BLAST
Topological domaini4774 – 487097Cytoplasmic By similarity
Add
BLAST

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
Complete GO annotation...

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 3
PRO_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.1 Publication

Protein-protein interaction databases

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

Structurei

Secondary structure

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.

Family & Domainsi

Domains and Repeats

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

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni840 – 282019814 X approximate repeats
Add
BLAST
Regioni2322 – 233514Interaction with FKBP1A
Add
BLAST
Regioni3469 – 349830Interaction with CALM By similarity
Add
BLAST

Domaini

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

Sequence similaritiesi

Contains 3 B30.2/SPRY domains.
Contains 5 MIR domains.

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.

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.
VSP_005954
Alternative sequencei3857 – 38593DSS → GMW in isoform 3.
VSP_005955
Alternative sequencei3860 – 48701011Missing in isoform 3.
VSP_005956Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti932 – 9321A → T in BAA23795. 1 Publication
Sequence conflicti1081 – 10811A → P in BAA23795. 1 Publication
Sequence conflicti1336 – 13361A → G in BAA23795. 1 Publication
Sequence conflicti1480 – 14801K → E in BAA23795. 1 Publication
Sequence conflicti1641 – 16411R → C in BAA23795. 1 Publication
Sequence conflicti1641 – 16411R → C in CAA04798. 1 Publication
Sequence conflicti2270 – 22701G → E in BAA23795. 1 Publication
Sequence conflicti2270 – 22701G → E in CAA04798. 1 Publication
Sequence conflicti2355 – 23551A → G in BAA23795. 1 Publication
Sequence conflicti2433 – 24331A → G in BAA23795. 1 Publication
Sequence conflicti2546 – 25461F → I in BAA23795. 1 Publication
Sequence conflicti2580 – 25801T → S in BAA23795. 1 Publication
Sequence conflicti2817 – 28171A → G in BAA23795. 1 Publication
Sequence conflicti3684 – 36841S → P in BAA23795. 1 Publication
Sequence conflicti3698 – 36981F → S in BAA23795. 1 Publication
Sequence conflicti4026 – 40261E → G in BAA23795. 1 Publication
Sequence conflicti4083 – 40831E → G in BAA23795. 1 Publication
Sequence conflicti4537 – 45371R → P in BAA23795. 1 Publication
Sequence conflicti4604 – 46041I → L in BAA23795. 1 Publication
Sequence conflicti4709 – 47091C → R in CAA52326. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 145 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.

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

Similar proteinsi