GenomeNet

Database: UniProt
Entry: A0A0X1KG73_HUMAN
LinkDB: A0A0X1KG73_HUMAN
Original site: A0A0X1KG73_HUMAN 
ID   A0A0X1KG73_HUMAN        Unreviewed;      4869 AA.
AC   A0A0X1KG73;
DT   16-MAR-2016, integrated into UniProtKB/TrEMBL.
DT   16-MAR-2016, sequence version 1.
DT   10-MAY-2017, entry version 11.
DE   SubName: Full=Ryanodine receptor 3 {ECO:0000313|Ensembl:ENSP00000373884};
GN   Name=RYR3 {ECO:0000313|Ensembl:ENSP00000373884};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000373884, ECO:0000313|Proteomes:UP000005640};
RN   [1] {ECO:0000313|Ensembl:ENSP00000373884, ECO:0000313|Proteomes:UP000005640}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16572171; DOI=10.1038/nature04601;
RA   Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA   Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA   FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA   Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA   Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA   DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R.,
RA   Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G.,
RA   Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A.,
RA   Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W.,
RA   Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X.,
RA   Sneddon K.M., Stewart S., Sougnez C., Stone S.M., Topham K.,
RA   Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S.,
RA   Nusbaum C.;
RT   "Analysis of the DNA sequence and duplication history of human
RT   chromosome 15.";
RL   Nature 440:671-675(2006).
RN   [2] {ECO:0000313|Ensembl:ENSP00000373884}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (JAN-2016) to UniProtKB.
CC   -!- CAUTION: Lacks conserved residue(s) required for the propagation
CC       of feature annotation. {ECO:0000256|PROSITE-ProRule:PRU00448}.
CC   -!- CAUTION: The sequence shown here is derived from an Ensembl
CC       automatic analysis pipeline and should be considered as
CC       preliminary data. {ECO:0000313|Ensembl:ENSP00000373884}.
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DR   EMBL; AC010809; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC011938; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC055874; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC067793; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC087638; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   PeptideAtlas; A0A0X1KG73; -.
DR   Ensembl; ENST00000389232; ENSP00000373884; ENSG00000198838.
DR   HGNC; HGNC:10485; RYR3.
DR   OpenTargets; ENSG00000198838; -.
DR   GeneTree; ENSGT00760000119152; -.
DR   Proteomes; UP000005640; Chromosome 15.
DR   ExpressionAtlas; A0A0X1KG73; baseline and differential.
DR   GO; GO:0005623; C:cell; IEA:GOC.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR   GO; GO:0005219; F:ryanodine-sensitive calcium-release channel activity; IEA:InterPro.
DR   InterPro; IPR016024; ARM-type_fold.
DR   InterPro; IPR001870; B30.2/SPRY.
DR   InterPro; IPR013320; ConA-like_dom.
DR   InterPro; IPR011992; EF-hand-dom_pair.
DR   InterPro; IPR002048; EF_hand_dom.
DR   InterPro; IPR014821; Ins145_P3_rcpt.
DR   InterPro; IPR005821; Ion_trans_dom.
DR   InterPro; IPR016093; MIR_motif.
DR   InterPro; IPR013662; RIH_assoc-dom.
DR   InterPro; IPR000699; RIH_dom.
DR   InterPro; IPR013333; Ryan_recept.
DR   InterPro; IPR003032; Ryanodine_rcpt.
DR   InterPro; IPR015925; Ryanodine_recept-rel.
DR   InterPro; IPR009460; Ryanrecept_TM4-6.
DR   InterPro; IPR003877; SPRY_dom.
DR   PANTHER; PTHR13715; PTHR13715; 1.
DR   Pfam; PF08709; Ins145_P3_rec; 1.
DR   Pfam; PF00520; Ion_trans; 1.
DR   Pfam; PF02815; MIR; 1.
DR   Pfam; PF08454; RIH_assoc; 1.
DR   Pfam; PF06459; RR_TM4-6; 1.
DR   Pfam; PF01365; RYDR_ITPR; 2.
DR   Pfam; PF02026; RyR; 4.
DR   Pfam; PF00622; SPRY; 3.
DR   PRINTS; PR00795; RYANODINER.
DR   SMART; SM00472; MIR; 4.
DR   SMART; SM00449; SPRY; 3.
DR   SUPFAM; SSF100909; SSF100909; 1.
DR   SUPFAM; SSF47473; SSF47473; 1.
DR   SUPFAM; SSF48371; SSF48371; 10.
DR   SUPFAM; SSF49899; SSF49899; 3.
DR   SUPFAM; SSF82109; SSF82109; 2.
DR   PROSITE; PS50188; B302_SPRY; 3.
DR   PROSITE; PS50222; EF_HAND_2; 1.
DR   PROSITE; PS50919; MIR; 5.
PE   1: Evidence at protein level;
KW   Coiled coil {ECO:0000256|SAM:Coils};
KW   Complete proteome {ECO:0000313|Proteomes:UP000005640};
KW   Membrane {ECO:0000256|SAM:Phobius};
KW   Proteomics identification {ECO:0000213|PeptideAtlas:A0A0X1KG73};
KW   Reference proteome {ECO:0000313|Proteomes:UP000005640};
KW   Transmembrane {ECO:0000256|SAM:Phobius};
KW   Transmembrane helix {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   4182   4206       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   4410   4430       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   4478   4497       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   4609   4627       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   4670   4691       Helical. {ECO:0000256|SAM:Phobius}.
FT   TRANSMEM   4750   4773       Helical. {ECO:0000256|SAM:Phobius}.
FT   DOMAIN      100    155       MIR. {ECO:0000259|PROSITE:PS50919}.
FT   DOMAIN      162    207       MIR. {ECO:0000259|PROSITE:PS50919}.
FT   DOMAIN      215    269       MIR. {ECO:0000259|PROSITE:PS50919}.
FT   DOMAIN      275    333       MIR. {ECO:0000259|PROSITE:PS50919}.
FT   DOMAIN      343    400       MIR. {ECO:0000259|PROSITE:PS50919}.
FT   DOMAIN      585    796       B30.2/SPRY. {ECO:0000259|PROSITE:
FT                                PS50188}.
FT   DOMAIN     1012   1208       B30.2/SPRY. {ECO:0000259|PROSITE:
FT                                PS50188}.
FT   DOMAIN     1254   1466       B30.2/SPRY. {ECO:0000259|PROSITE:
FT                                PS50188}.
FT   DOMAIN     3918   3953       EF-hand. {ECO:0000259|PROSITE:PS50222}.
FT   COILED     4332   4359       {ECO:0000256|SAM:Coils}.
SQ   SEQUENCE   4869 AA;  551955 MW;  B219175AFA3AB34A CRC64;
     MAEGGEGGED EIQFLRTEDE VVLQCIATIH KEQRKFCLAA EGLGNRLCFL EPTSEAKYIP
     PDLCVCNFVL EQSLSVRALQ EMLANTGENG GEGAAQGGGH RTLLYGHAVL LRHSFSGMYL
     TCLTTSRSQT DKLAFDVGLR EHATGEACWW TIHPASKQRS EGEKVRIGDD LILVSVSSER
     YLHLSVSNGN IQVDASFMQT LWNVHPTCSG SSIEEGYLLG GHVVRLFHGH DECLTIPSTD
     QNDSQHRRIF YEAGGAGTRA RSLWRVEPLR ISWSGSNIRW GQAFRLRHLT TGHYLALTED
     QGLILQDRAK SDTKSTAFSF RASKELKEKL DSSHKRDIEG MGVPEIKYGD SVCFVQHIAS
     GLWVTYKAQD AKTSRLGPLK RKVILHQEGH MDDGLTLQRC QREESQAARI IRNTTALFSQ
     FVSGNNRTAA PITLPIEEVL QTLQDLIAYF QPPEEEMRHE DKQNKLRSLK NRQNLFKEEG
     MLALVLNCID RLNVYNSVAH FAGIAREESG MAWKEILNLL YKLLAALIRG NRNNCAQFSN
     NLDWLISKLD RLESSSGILE VLHCILTESP EALNLIAEGH IKSIISLLDK HGRNHKVLDI
     LCSLCLCNGV AVRANQNLIC DNLLPRRNLL LQTRLINDVT SIRPNIFLGV AEGSAQYKKW
     YFELIIDQVD PFLTAEPTHL RVGWASSSGY APYPGGGEGW GGNGVGDDLY SYGFDGLHLW
     SGRIPRAVAS INQHLLRSDD VVSCCLDLGV PSISFRINGQ PVQGMFENFN TDGLFFPVMS
     FSAGVKVRFL MGGRHGEFKF LPPSGYAPCY EALLPKEKMR LEPVKEYKRD ADGIRDLLGT
     TQFLSQASFI PCPVDTSQVI LPPHLEKIRD RLAENIHELW GMNKIELGWT FGKIRDDNKR
     QHPCLVEFSK LPETEKNYNL QMSTETLKTL LALGCHIAHV NPAAEEDLKK VKLPKNYMMS
     NGYKPAPLDL SDVKLLPPQE ILVDKLAENA HNVWAKDRIK QGWTYGIQQD LKNKRNPRLV
     PYALLDERTK KSNRDSLREA VRTFVGYGYN IEPSDQELAD SAVEKVSIDK IRFFRVERSY
     AVRSGKWYFE FEVVTGGDMR VGWARPGCRP DVELGADDQA FVFEGNRGQR WHQGSGYFGR
     TWQPGDVVGC MINLDDASMI FTLNGELLIT NKGSELAFAD YEIENGFVPI CCLGLSQIGR
     MNLGTDASTF KFYTMCGLQE GFEPFAVNMN RDVAMWFSKR LPTFVNVPKD HPHIEVMRID
     GTMDSPPCLK VTHKTFGTQN SNADMIYCRL SMPVECHSSF SHSPCLDSEA FQKRKQMQEI
     LSHTTTQCYY AIRIFAGQDP SCVWVGWVTP DYHLYSEKFD LNKNCTVTVT LGDERGRVHE
     SVKRSNCYMV WGGDIVASSQ RSNRSNVDLE IGCLVDLAMG MLSFSANGKE LGTCYQVEPN
     TKVFPAVFLQ PTSTSLFQFE LGKLKNAMPL SAAIFRSEEK NPVPQCPPRL DVQTIQPVLW
     SRMPNSFLKV ETERVSERHG WVVQCLEPLQ MMALHIPEEN RCVDILELCE QEDLMRFHYH
     TLRLYSAVCA LGNSRVAYAL CSHVDLSQLF YAIDNKYLPG LLRSGFYDLL ISIHLASAKE
     RKLMMKNEYI IPITSTTRNI RLFPDESKRH GLPGVGLRTC LKPGFRFSTP CFVVTGEDHQ
     KQSPEIPLES LRTKALSMLT EAVQCSGAHI RDPVGGSVEF QFVPVLKLIG TLLVMGVFDD
     DDVRQILLLI DPSVFGEHSA GTEEGAEKEE VTQVEEKAVE AGEKAGKEAP VKGLLQTRLP
     ESVKLQMCEL LSYLCDCELQ HRVEAIVAFG DIYVSKLQAN QKFRYNELMQ ALNMSAALTA
     RKTKEFRSPP QEQINMLLNF QLGENCPCPE EIREELYDFH EDLLLHCGVP LEEEEEEEED
     TSWTGKLCAL VYKIKGPPKP EKEQPTEEEE RCPTTLKELI SQTMICWAQE DQIQDSELVR
     MMFNLLRRQY DSIGELLQAL RKTYTISHTS VSDTINLLAA LGQIRSLLSV RMGKEEELLM
     INGLGDIMNN KVFYQHPNLM RVLGMHETVM EVMVNVLGTE KSQIAFPKMV ASCCRFLCYF
     CRISRQNQKA MFEHLSYLLE NSSVGLASPS MRGSTPLDVA ASSVMDNNEL ALSLEEPDLE
     KVVTYLAGCG LQSCPMLLAK GYPDVGWNPI EGERYLSFLR FAVFVNSESV EENASVVVKL
     LIRRPECFGP ALRGEGGNGL LAAMQGAIKI SENPALDLPS QGYKREVTGD DEEEEEIVHM
     GNAIMSFYSA LIDLLGRCAP EMHLIQTGKG EAIRIRSILR SLVPTEDLVG IISIPLKLPS
     LNKDGSVSEP DMAANFCPDH KAPMVLFLDR VYGIKDQTFL LHLLEVGFLP DLRASASLDT
     VSLSTTEAAL ALNRYICSAV LPLLTRCAPL FAGTEHCTSL IDSTLQTIYR LSKGRSLTKA
     QRDTIEECLL AICNHLRPSM LQQLLRRLVF DVPQLNEYCK MPLKLLTNHY EQCWKYYCLP
     SGWGSYGLAV EEELHLTEKL FWGIFDSLSH KKYDPDLFRM ALPCLSAIAG ALPPDYLDTR
     ITATLEKQIS VDADGNFDPK PINTMNFSLP EKLEYIVTKY AEHSHDKWAC DKSQSGWKYG
     ISLDENVKTH PLIRPFKTLT EKEKEIYRWP ARESLKTMLA VGWTVERTKE GEALVQQREN
     EKLRSVSQAN QGNSYSPAPL DLSNVVLSRE LQGMVEVVAE NYHNIWAKKK KLELESKGGG
     SHPLLVPYDT LTAKEKFKDR EKAQDLFKFL QVNGIIVSRG MKDMELDASS MEKRFAYKFL
     KKILKYVDSA QEFIAHLEAI VSSGKTEKSP RDQEIKFFAK VLLPLVDQYF TSHCLYFLSS
     PLKPLSSSGY ASHKEKEMVA GLFCKLAALV RHRISLFGSD STTMVSCLHI LAQTLDTRTV
     MKSGSELVKA GLRAFFENAA EDLEKTSENL KLGKFTHSRT QIKGVSQNIN YTTVALLPIL
     TSIFEHVTQH QFGMDLLLGD VQISCYHILC SLYSLGTGKN IYVERQRPAL GECLASLAAA
     IPVAFLEPTL NRYNPLSVFN TKTPRERSIL GMPDTVEDMC PDIPQLEGLM KEINDLAESG
     ARYTEMPHVI EVILPMLCNY LSYWWERGPE NLPPSTGPCC TKVTSEHLSL ILGNILKIIN
     NNLGIDEASW MKRIAVYAQP IISKARPDLL RSHFIPTLEK LKKKAVKTVQ EEEQLKADGK
     GDTQEAELLI LDEFAVLCRD LYAFYPMLIR YVDNNRSNWL KSPDADSDQL FRMVAEVFIL
     WCKSHNFKRE EQNFVIQNEI NNLAFLTGDS KSKMSKAMQV KSGGQDQERK KTKRRGDLYS
     IQTSLIVAAL KKMLPIGLNM CTPGDQELIS LAKSRYSHRD TDEEVREHLR NNLHLQEKSD
     DPAVKWQLNL YKDVLKSEEP FNPEKTVERV QRISAAVFHL EQVEQPLRSK KAVWHKLLSK
     QRKRAVVACF RMAPLYNLPR HRSINLFLHG YQRFWIETEE YSFEEKLVQD LAKSPKVEEE
     EEEETEKQPD PLHQIILYFS RNALTERSKL EDDPLYTSYS SMMAKSCQSG EDEEEDEDKE
     KTFEEKEMEK QKTLYQQARL HERGAAEMVL QMISASKGEM SPMVVETLKL GIAILNGGNA
     GVQQKMLDYL KEKKDAGFFQ SLSGLMQSCS VLDLNAFERQ NKAEGLGMVT EEGTLIVRER
     GEKVLQNDEF TRDLFRFLQL LCEGHNSDFQ NFLRTQMGNT TTVNVIISTV DYLLRLQESI
     SDFYWYYSGK DIIDESGQHN FSKALAVTKQ IFNSLTEYIQ GPCIGNQQSL AHSRLWDAVV
     GFLHVFANMQ MKLSQDSSQI ELLKELLDLL QDMVVMLLSL LEGNVVNGTI GKQMVDTLVE
     SSTNVEMILK FFDMFLKLKD LTSSDTFKEY DPDGKGIISK KEFQKAMEGQ KQYTQSEIDF
     LLSCAEADEN DMFNYVDFVD RFHEPAKDIG FNVAVLLTNL SEHMPNDSRL KCLLDPAESV
     LNYFEPYLGR IEIMGGAKKI ERVYFEISES SRTQWEKPQV KESKRQFIFD VVNEGGEQEK
     MELFVNFCED TIFEMQLASQ ISESDSADRP EEEEEDEDSS YVLEIAGEEE EDGSLEPASA
     FAMACASVKR NVTDFLKRAT LKNLRKQYRN VKKMTAKELV KVLFSFFWML FVGLFQLLFT
     ILGGIFQILW STVFGGGLVE GAKNIRVTKI LGDMPDPTQF GIHDDTMEAE RAEVMEPGIT
     TELVHFIKGE KGDTDIMSDL FGLHPKKEGS LKHGPEVGLG DLSEIIGKDE PPTLESTVQK
     KRKAQAAEMK AANEAEGKVE SEKADMEDGE KEDKDKEEEQ AEYLWTEVTK KKKRRCGQKV
     EKPEAFTANF FKGLEIYQTK LLHYLARNFY NLRFLALFVA FAINFILLFY KVTEEPLEEE
     TEDVANLWNS FNDEEEEEAM VFFVLQESTG YMAPTLRALA IIHTIISLVC VVGYYCLKVP
     LVVFKREKEI ARKLEFDGLY ITEQPSEDDI KGQWDRLVIN TPSFPNNYWD KFVKRKVINK
     YGDLYGAERI AELLGLDKNA LDFSPVEETK AEAASLVSWL SSIDMKYHIW KLGVVFTDNS
     FLYLAWYTTM SVLGHYNNFF FAAHLLDIAM GFKTLRTILS SVTHNGKQLV LTVGLLAVVV
     YLYTVVAFNF FRKFYNKSED DDEPDMKCDD MMTCYLFHMY VGVRAGGGIG DEIEDPAGDP
     YEMYRIVFDI TFFFFVIVIL LAIIQGLIID AFGELRDQQE QVREDMETKC FICGIGNDYF
     DTTPHGFETH TLQEHNLANY LFFLMYLINK DETEHTGQES YVWKMYQERC WDFFPAGDCF
     RKQYEDQLG
//
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