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Q15413 (RYR3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 144. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:RYR3
Synonyms:HBRR
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length4870 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.8

Subunit structure

Homotetramer. Heterotetramer with RYR2. Interacts with CALM By similarity. Interacts with FKBP1A. Ref.9

Subcellular location

Sarcoplasmic reticulum membrane; Multi-pass membrane protein Probable. Membrane; Multi-pass membrane protein Probable. 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.

Tissue specificity

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. Ref.1 Ref.4

Domain

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

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.

Sequence similarities

Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR3 subfamily. [View classification]

Contains 3 B30.2/SPRY domains.

Contains 5 MIR domains.

Sequence caution

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

Ontologies

Keywords
   Biological processCalcium transport
Ion transport
Transport
   Cellular componentEndoplasmic reticulum
Membrane
Microsome
Sarcoplasmic reticulum
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
Transmembrane helix
   LigandCalcium
Calmodulin-binding
   Molecular functionCalcium channel
Ion channel
Ligand-gated ion channel
Receptor
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcalcium ion transmembrane transport

Inferred from sequence or structural similarity. Source: UniProtKB

calcium ion transport

Inferred from mutant phenotype Ref.1. Source: UniProtKB

cellular response to ATP

Inferred from sequence or structural similarity. Source: UniProtKB

cellular response to caffeine

Inferred from sequence or structural similarity. Source: UniProtKB

cellular response to calcium ion

Inferred from sequence or structural similarity. Source: UniProtKB

cellular response to magnesium ion

Inferred from sequence or structural similarity. Source: UniProtKB

ion transmembrane transport

Traceable author statement. Source: Reactome

negative regulation of cytosolic calcium ion concentration

Inferred from electronic annotation. Source: Ensembl

protein homotetramerization

Inferred from sequence or structural similarity. Source: UniProtKB

striated muscle contraction

Inferred from electronic annotation. Source: Ensembl

transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentintegral component of membrane

Inferred from sequence or structural similarity. Source: UniProtKB

junctional membrane complex

Inferred from electronic annotation. Source: Ensembl

perinuclear region of cytoplasm

Inferred from electronic annotation. Source: Ensembl

sarcoplasmic reticulum membrane

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functioncalcium ion binding

Inferred from electronic annotation. Source: InterPro

calcium-induced calcium release activity

Inferred from electronic annotation. Source: Ensembl

calcium-release channel activity

Inferred from mutant phenotype Ref.1. Source: UniProtKB

ryanodine-sensitive calcium-release channel activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q15413-1)

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.
Isoform 2 (identifier: Q15413-2)

The sequence of this isoform differs from the canonical sequence as follows:
     3337-3341: Missing.
Isoform 3 (identifier: Q15413-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 48704870Ryanodine receptor 3
PRO_0000219363

Regions

Topological domain1 – 41864186Cytoplasmic By similarity
Transmembrane4187 – 420721Helical; Potential
Transmembrane4410 – 443021Helical; Potential
Transmembrane4485 – 450521Helical; Potential
Transmembrane4610 – 463021Helical; Potential
Transmembrane4633 – 465321Helical; Potential
Transmembrane4672 – 469221Helical; Potential
Intramembrane4723 – 473210Pore-forming; By similarity
Transmembrane4753 – 477321Helical; Potential
Topological domain4774 – 487097Cytoplasmic By similarity
Domain100 – 15556MIR 1
Domain162 – 20746MIR 2
Domain215 – 26955MIR 3
Domain275 – 33359MIR 4
Domain343 – 40058MIR 5
Domain585 – 796212B30.2/SPRY 1
Repeat840 – 9531141
Repeat954 – 10681152
Domain1012 – 1208197B30.2/SPRY 2
Domain1254 – 1466213B30.2/SPRY 3
Repeat2589 – 27071193
Repeat2708 – 28201134
Region840 – 282019814 X approximate repeats
Region2322 – 233514Interaction with FKBP1A
Region3469 – 349830Interaction with CALM By similarity

Sites

Site38831Important for activation by Ca(2+) By similarity

Natural variations

Alternative sequence3337 – 33415Missing in isoform 2.
VSP_005954
Alternative sequence3857 – 38593DSS → GMW in isoform 3.
VSP_005955
Alternative sequence3860 – 48701011Missing in isoform 3.
VSP_005956
Natural variant2611R → S. Ref.2
VAR_024077
Natural variant3581I → T.
Corresponds to variant rs2304380 [ dbSNP | Ensembl ].
VAR_057166
Natural variant4941V → I. Ref.2
Corresponds to variant rs2077268 [ dbSNP | Ensembl ].
VAR_024078
Natural variant6931Y → C. Ref.2
VAR_011404
Natural variant7311I → V. Ref.2
Corresponds to variant rs2229116 [ dbSNP | Ensembl ].
VAR_011405
Natural variant13801E → G. Ref.2
VAR_011406
Natural variant22681Missing. Ref.2
VAR_011407

Experimental info

Sequence conflict9321A → T in BAA23795. Ref.1
Sequence conflict10811A → P in BAA23795. Ref.1
Sequence conflict13361A → G in BAA23795. Ref.1
Sequence conflict14801K → E in BAA23795. Ref.1
Sequence conflict16411R → C in BAA23795. Ref.1
Sequence conflict16411R → C in CAA04798. Ref.2
Sequence conflict22701G → E in BAA23795. Ref.1
Sequence conflict22701G → E in CAA04798. Ref.2
Sequence conflict23551A → G in BAA23795. Ref.1
Sequence conflict24331A → G in BAA23795. Ref.1
Sequence conflict25461F → I in BAA23795. Ref.1
Sequence conflict25801T → S in BAA23795. Ref.1
Sequence conflict28171A → G in BAA23795. Ref.1
Sequence conflict36841S → P in BAA23795. Ref.1
Sequence conflict36981F → S in BAA23795. Ref.1
Sequence conflict40261E → G in BAA23795. Ref.1
Sequence conflict40831E → G in BAA23795. Ref.1
Sequence conflict45371R → P in BAA23795. Ref.1
Sequence conflict46041I → L in BAA23795. Ref.1
Sequence conflict47091C → R in CAA52326. Ref.6

Secondary structure

....................... 4870
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 8, 2011. Version 3.
Checksum: B953487A89FD480F

FASTA4,870552,042
        10         20         30         40         50         60 
MAEGGEGGED EIQFLRTEDE VVLQCIATIH KEQRKFCLAA EGLGNRLCFL EPTSEAKYIP 

        70         80         90        100        110        120 
PDLCVCNFVL EQSLSVRALQ EMLANTGENG GEGAAQGGGH RTLLYGHAVL LRHSFSGMYL 

       130        140        150        160        170        180 
TCLTTSRSQT DKLAFDVGLR EHATGEACWW TIHPASKQRS EGEKVRIGDD LILVSVSSER 

       190        200        210        220        230        240 
YLHLSVSNGN IQVDASFMQT LWNVHPTCSG SSIEEGYLLG GHVVRLFHGH DECLTIPSTD 

       250        260        270        280        290        300 
QNDSQHRRIF YEAGGAGTRA RSLWRVEPLR ISWSGSNIRW GQAFRLRHLT TGHYLALTED 

       310        320        330        340        350        360 
QGLILQDRAK SDTKSTAFSF RASKELKEKL DSSHKRDIEG MGVPEIKYGD SVCFVQHIAS 

       370        380        390        400        410        420 
GLWVTYKAQD AKTSRLGPLK RKVILHQEGH MDDGLTLQRC QREESQAARI IRNTTALFSQ 

       430        440        450        460        470        480 
FVSGNNRTAA PITLPIEEVL QTLQDLIAYF QPPEEEMRHE DKQNKLRSLK NRQNLFKEEG 

       490        500        510        520        530        540 
MLALVLNCID RLNVYNSVAH FAGIAREESG MAWKEILNLL YKLLAALIRG NRNNCAQFSN 

       550        560        570        580        590        600 
NLDWLISKLD RLESSSGILE VLHCILTESP EALNLIAEGH IKSIISLLDK HGRNHKVLDI 

       610        620        630        640        650        660 
LCSLCLCNGV AVRANQNLIC DNLLPRRNLL LQTRLINDVT SIRPNIFLGV AEGSAQYKKW 

       670        680        690        700        710        720 
YFELIIDQVD PFLTAEPTHL RVGWASSSGY APYPGGGEGW GGNGVGDDLY SYGFDGLHLW 

       730        740        750        760        770        780 
SGRIPRAVAS INQHLLRSDD VVSCCLDLGV PSISFRINGQ PVQGMFENFN TDGLFFPVMS 

       790        800        810        820        830        840 
FSAGVKVRFL MGGRHGEFKF LPPSGYAPCY EALLPKEKMR LEPVKEYKRD ADGIRDLLGT 

       850        860        870        880        890        900 
TQFLSQASFI PCPVDTSQVI LPPHLEKIRD RLAENIHELW GMNKIELGWT FGKIRDDNKR 

       910        920        930        940        950        960 
QHPCLVEFSK LPETEKNYNL QMSTETLKTL LALGCHIAHV NPAAEEDLKK VKLPKNYMMS 

       970        980        990       1000       1010       1020 
NGYKPAPLDL SDVKLLPPQE ILVDKLAENA HNVWAKDRIK QGWTYGIQQD LKNKRNPRLV 

      1030       1040       1050       1060       1070       1080 
PYALLDERTK KSNRDSLREA VRTFVGYGYN IEPSDQELAD SAVEKVSIDK IRFFRVERSY 

      1090       1100       1110       1120       1130       1140 
AVRSGKWYFE FEVVTGGDMR VGWARPGCRP DVELGADDQA FVFEGNRGQR WHQGSGYFGR 

      1150       1160       1170       1180       1190       1200 
TWQPGDVVGC MINLDDASMI FTLNGELLIT NKGSELAFAD YEIENGFVPI CCLGLSQIGR 

      1210       1220       1230       1240       1250       1260 
MNLGTDASTF KFYTMCGLQE GFEPFAVNMN RDVAMWFSKR LPTFVNVPKD HPHIEVMRID 

      1270       1280       1290       1300       1310       1320 
GTMDSPPCLK VTHKTFGTQN SNADMIYCRL SMPVECHSSF SHSPCLDSEA FQKRKQMQEI 

      1330       1340       1350       1360       1370       1380 
LSHTTTQCYY AIRIFAGQDP SCVWVGWVTP DYHLYSEKFD LNKNCTVTVT LGDERGRVHE 

      1390       1400       1410       1420       1430       1440 
SVKRSNCYMV WGGDIVASSQ RSNRSNVDLE IGCLVDLAMG MLSFSANGKE LGTCYQVEPN 

      1450       1460       1470       1480       1490       1500 
TKVFPAVFLQ PTSTSLFQFE LGKLKNAMPL SAAIFRSEEK NPVPQCPPRL DVQTIQPVLW 

      1510       1520       1530       1540       1550       1560 
SRMPNSFLKV ETERVSERHG WVVQCLEPLQ MMALHIPEEN RCVDILELCE QEDLMRFHYH 

      1570       1580       1590       1600       1610       1620 
TLRLYSAVCA LGNSRVAYAL CSHVDLSQLF YAIDNKYLPG LLRSGFYDLL ISIHLASAKE 

      1630       1640       1650       1660       1670       1680 
RKLMMKNEYI IPITSTTRNI RLFPDESKRH GLPGVGLRTC LKPGFRFSTP CFVVTGEDHQ 

      1690       1700       1710       1720       1730       1740 
KQSPEIPLES LRTKALSMLT EAVQCSGAHI RDPVGGSVEF QFVPVLKLIG TLLVMGVFDD 

      1750       1760       1770       1780       1790       1800 
DDVRQILLLI DPSVFGEHSA GTEEGAEKEE VTQVEEKAVE AGEKAGKEAP VKGLLQTRLP 

      1810       1820       1830       1840       1850       1860 
ESVKLQMCEL LSYLCDCELQ HRVEAIVAFG DIYVSKLQAN QKFRYNELMQ ALNMSAALTA 

      1870       1880       1890       1900       1910       1920 
RKTKEFRSPP QEQINMLLNF QLGENCPCPE EIREELYDFH EDLLLHCGVP LEEEEEEEED 

      1930       1940       1950       1960       1970       1980 
TSWTGKLCAL VYKIKGPPKP EKEQPTEEEE RCPTTLKELI SQTMICWAQE DQIQDSELVR 

      1990       2000       2010       2020       2030       2040 
MMFNLLRRQY DSIGELLQAL RKTYTISHTS VSDTINLLAA LGQIRSLLSV RMGKEEELLM 

      2050       2060       2070       2080       2090       2100 
INGLGDIMNN KVFYQHPNLM RVLGMHETVM EVMVNVLGTE KSQIAFPKMV ASCCRFLCYF 

      2110       2120       2130       2140       2150       2160 
CRISRQNQKA MFEHLSYLLE NSSVGLASPS MRGSTPLDVA ASSVMDNNEL ALSLEEPDLE 

      2170       2180       2190       2200       2210       2220 
KVVTYLAGCG LQSCPMLLAK GYPDVGWNPI EGERYLSFLR FAVFVNSESV EENASVVVKL 

      2230       2240       2250       2260       2270       2280 
LIRRPECFGP ALRGEGGNGL LAAMQGAIKI SENPALDLPS QGYKREVSTG DDEEEEEIVH 

      2290       2300       2310       2320       2330       2340 
MGNAIMSFYS ALIDLLGRCA PEMHLIQTGK GEAIRIRSIL RSLVPTEDLV GIISIPLKLP 

      2350       2360       2370       2380       2390       2400 
SLNKDGSVSE PDMAANFCPD HKAPMVLFLD RVYGIKDQTF LLHLLEVGFL PDLRASASLD 

      2410       2420       2430       2440       2450       2460 
TVSLSTTEAA LALNRYICSA VLPLLTRCAP LFAGTEHCTS LIDSTLQTIY RLSKGRSLTK 

      2470       2480       2490       2500       2510       2520 
AQRDTIEECL LAICNHLRPS MLQQLLRRLV FDVPQLNEYC KMPLKLLTNH YEQCWKYYCL 

      2530       2540       2550       2560       2570       2580 
PSGWGSYGLA VEEELHLTEK LFWGIFDSLS HKKYDPDLFR MALPCLSAIA GALPPDYLDT 

      2590       2600       2610       2620       2630       2640 
RITATLEKQI SVDADGNFDP KPINTMNFSL PEKLEYIVTK YAEHSHDKWA CDKSQSGWKY 

      2650       2660       2670       2680       2690       2700 
GISLDENVKT HPLIRPFKTL TEKEKEIYRW PARESLKTML AVGWTVERTK EGEALVQQRE 

      2710       2720       2730       2740       2750       2760 
NEKLRSVSQA NQGNSYSPAP LDLSNVVLSR ELQGMVEVVA ENYHNIWAKK KKLELESKGG 

      2770       2780       2790       2800       2810       2820 
GSHPLLVPYD TLTAKEKFKD REKAQDLFKF LQVNGIIVSR GMKDMELDAS SMEKRFAYKF 

      2830       2840       2850       2860       2870       2880 
LKKILKYVDS AQEFIAHLEA IVSSGKTEKS PRDQEIKFFA KVLLPLVDQY FTSHCLYFLS 

      2890       2900       2910       2920       2930       2940 
SPLKPLSSSG YASHKEKEMV AGLFCKLAAL VRHRISLFGS DSTTMVSCLH ILAQTLDTRT 

      2950       2960       2970       2980       2990       3000 
VMKSGSELVK AGLRAFFENA AEDLEKTSEN LKLGKFTHSR TQIKGVSQNI NYTTVALLPI 

      3010       3020       3030       3040       3050       3060 
LTSIFEHVTQ HQFGMDLLLG DVQISCYHIL CSLYSLGTGK NIYVERQRPA LGECLASLAA 

      3070       3080       3090       3100       3110       3120 
AIPVAFLEPT LNRYNPLSVF NTKTPRERSI LGMPDTVEDM CPDIPQLEGL MKEINDLAES 

      3130       3140       3150       3160       3170       3180 
GARYTEMPHV IEVILPMLCN YLSYWWERGP ENLPPSTGPC CTKVTSEHLS LILGNILKII 

      3190       3200       3210       3220       3230       3240 
NNNLGIDEAS WMKRIAVYAQ PIISKARPDL LRSHFIPTLE KLKKKAVKTV QEEEQLKADG 

      3250       3260       3270       3280       3290       3300 
KGDTQEAELL ILDEFAVLCR DLYAFYPMLI RYVDNNRSNW LKSPDADSDQ LFRMVAEVFI 

      3310       3320       3330       3340       3350       3360 
LWCKSHNFKR EEQNFVIQNE INNLAFLTGD SKSKMSKAMQ VKSGGQDQER KKTKRRGDLY 

      3370       3380       3390       3400       3410       3420 
SIQTSLIVAA LKKMLPIGLN MCTPGDQELI SLAKSRYSHR DTDEEVREHL RNNLHLQEKS 

      3430       3440       3450       3460       3470       3480 
DDPAVKWQLN LYKDVLKSEE PFNPEKTVER VQRISAAVFH LEQVEQPLRS KKAVWHKLLS 

      3490       3500       3510       3520       3530       3540 
KQRKRAVVAC FRMAPLYNLP RHRSINLFLH GYQRFWIETE EYSFEEKLVQ DLAKSPKVEE 

      3550       3560       3570       3580       3590       3600 
EEEEETEKQP DPLHQIILYF SRNALTERSK LEDDPLYTSY SSMMAKSCQS GEDEEEDEDK 

      3610       3620       3630       3640       3650       3660 
EKTFEEKEME KQKTLYQQAR LHERGAAEMV LQMISASKGE MSPMVVETLK LGIAILNGGN 

      3670       3680       3690       3700       3710       3720 
AGVQQKMLDY LKEKKDAGFF QSLSGLMQSC SVLDLNAFER QNKAEGLGMV TEEGTLIVRE 

      3730       3740       3750       3760       3770       3780 
RGEKVLQNDE FTRDLFRFLQ LLCEGHNSDF QNFLRTQMGN TTTVNVIIST VDYLLRLQES 

      3790       3800       3810       3820       3830       3840 
ISDFYWYYSG KDIIDESGQH NFSKALAVTK QIFNSLTEYI QGPCIGNQQS LAHSRLWDAV 

      3850       3860       3870       3880       3890       3900 
VGFLHVFANM QMKLSQDSSQ IELLKELLDL LQDMVVMLLS LLEGNVVNGT IGKQMVDTLV 

      3910       3920       3930       3940       3950       3960 
ESSTNVEMIL KFFDMFLKLK DLTSSDTFKE YDPDGKGIIS KKEFQKAMEG QKQYTQSEID 

      3970       3980       3990       4000       4010       4020 
FLLSCAEADE NDMFNYVDFV DRFHEPAKDI GFNVAVLLTN LSEHMPNDSR LKCLLDPAES 

      4030       4040       4050       4060       4070       4080 
VLNYFEPYLG RIEIMGGAKK IERVYFEISE SSRTQWEKPQ VKESKRQFIF DVVNEGGEQE 

      4090       4100       4110       4120       4130       4140 
KMELFVNFCE DTIFEMQLAS QISESDSADR PEEEEEDEDS SYVLEIAGEE EEDGSLEPAS 

      4150       4160       4170       4180       4190       4200 
AFAMACASVK RNVTDFLKRA TLKNLRKQYR NVKKMTAKEL VKVLFSFFWM LFVGLFQLLF 

      4210       4220       4230       4240       4250       4260 
TILGGIFQIL WSTVFGGGLV EGAKNIRVTK ILGDMPDPTQ FGIHDDTMEA ERAEVMEPGI 

      4270       4280       4290       4300       4310       4320 
TTELVHFIKG EKGDTDIMSD LFGLHPKKEG SLKHGPEVGL GDLSEIIGKD EPPTLESTVQ 

      4330       4340       4350       4360       4370       4380 
KKRKAQAAEM KAANEAEGKV ESEKADMEDG EKEDKDKEEE QAEYLWTEVT KKKKRRCGQK 

      4390       4400       4410       4420       4430       4440 
VEKPEAFTAN FFKGLEIYQT KLLHYLARNF YNLRFLALFV AFAINFILLF YKVTEEPLEE 

      4450       4460       4470       4480       4490       4500 
ETEDVANLWN SFNDEEEEEA MVFFVLQEST GYMAPTLRAL AIIHTIISLV CVVGYYCLKV 

      4510       4520       4530       4540       4550       4560 
PLVVFKREKE IARKLEFDGL YITEQPSEDD IKGQWDRLVI NTPSFPNNYW DKFVKRKVIN 

      4570       4580       4590       4600       4610       4620 
KYGDLYGAER IAELLGLDKN ALDFSPVEET KAEAASLVSW LSSIDMKYHI WKLGVVFTDN 

      4630       4640       4650       4660       4670       4680 
SFLYLAWYTT MSVLGHYNNF FFAAHLLDIA MGFKTLRTIL SSVTHNGKQL VLTVGLLAVV 

      4690       4700       4710       4720       4730       4740 
VYLYTVVAFN FFRKFYNKSE DDDEPDMKCD DMMTCYLFHM YVGVRAGGGI GDEIEDPAGD 

      4750       4760       4770       4780       4790       4800 
PYEMYRIVFD ITFFFFVIVI LLAIIQGLII DAFGELRDQQ EQVREDMETK CFICGIGNDY 

      4810       4820       4830       4840       4850       4860 
FDTTPHGFET HTLQEHNLAN YLFFLMYLIN KDETEHTGQE SYVWKMYQER CWDFFPAGDC 

      4870 
FRKQYEDQLG 

« Hide

Isoform 2 [UniParc].

Checksum: 1967DCA6B019C276
Show »

FASTA4,865551,484
Isoform 3 [UniParc].

Checksum: 637F449F56BDEB60
Show »

FASTA3,859435,934

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

Wikipedia

Ryanodine receptor entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS45210.1. [Q15413-1]
CCDS58351.1. [Q15413-2]
PIRS37537.
S66631.
RefSeqNP_001027.3. NM_001036.3. [Q15413-1]
NP_001230925.1. NM_001243996.1. [Q15413-2]
UniGeneHs.709373.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4ERVX-ray1.75A2597-2800[»]
ProteinModelPortalQ15413.
SMRQ15413. Positions 13-532, 2598-2800, 3469-3495.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112175. 7 interactions.
IntActQ15413. 2 interactions.
STRING9606.ENSP00000373884.

Chemistry

BindingDBQ15413.
ChEMBLCHEMBL2062.
GuidetoPHARMACOLOGY749.

PTM databases

PhosphoSiteQ15413.

Polymorphism databases

DMDM325511382.

Proteomic databases

PaxDbQ15413.
PRIDEQ15413.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000389232; ENSP00000373884; ENSG00000198838. [Q15413-1]
ENST00000415757; ENSP00000399610; ENSG00000198838. [Q15413-2]
GeneID6263.
KEGGhsa:6263.
UCSCuc001zhi.3. human. [Q15413-1]
uc010bar.3. human. [Q15413-2]

Organism-specific databases

CTD6263.
GeneCardsGC15P033603.
H-InvDBHIX0038065.
HGNCHGNC:10485. RYR3.
HPACAB006887.
MIM180903. gene.
neXtProtNX_Q15413.
PharmGKBPA34897.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG247670.
HOGENOMHOG000231428.
HOVERGENHBG006699.
InParanoidQ15413.
KOK04963.
OMAIDQVDPF.
OrthoDBEOG71K622.
PhylomeDBQ15413.
TreeFamTF315244.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

BgeeQ15413.
CleanExHS_RYR3.
GenevestigatorQ15413.

Family and domain databases

Gene3D1.10.238.10. 1 hit.
1.25.10.30. 1 hit.
InterProIPR016024. 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]
PANTHERPTHR13715. PTHR13715. 1 hit.
PfamPF08709. 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]
PRINTSPR00795. RYANODINER.
SMARTSM00472. MIR. 4 hits.
SM00449. SPRY. 3 hits.
[Graphical view]
SUPFAMSSF100909. SSF100909. 1 hit.
SSF48371. SSF48371. 10 hits.
SSF49899. SSF49899. 3 hits.
SSF82109. SSF82109. 2 hits.
PROSITEPS50188. B302_SPRY. 3 hits.
PS50919. MIR. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiRYR3.
GenomeRNAi6263.
NextBio24329.
PROQ15413.
SOURCESearch...

Entry information

Entry nameRYR3_HUMAN
AccessionPrimary (citable) accession number: Q15413
Secondary accession number(s): O15175, Q15412
Entry history
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: March 8, 2011
Last modified: July 9, 2014
This is version 144 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM