| Tag | Content |
|---|---|
| Uniprot ID | E9PZQ0; Q60834; Q61779; Q61780; Q62173; Q62196; Q62235; Q78EJ6; Q7TNG1; Q80UQ5; Q80X16; Q99JF9; |
| Entrez ID | 20190 |
| Genbank protein ID | BAA04822.1; AAA64955.1; AAH55487.1; AAP29981.1; CAA58784.1; AAH51248.1; BAA04821.1; CAC34624.1; BAA21010.1; BAA07391.1; |
| Genbank nucleotide ID | NM_009109.2 |
| Ensembl protein ID | ENSMUSP00000137123 |
| Ensembl nucleotide ID | ENSMUSG00000030592 |
| Gene name | Ryanodine receptor 1 |
| Gene symbol | Ryr1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 18003898 |
| Functional description | Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules (PubMed:18003898, PubMed:7515481, PubMed:7621815, PubMed:21156754). Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm (PubMed:18268335). Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain (PubMed:22036948). Required for normal embryonic development of muscle fibers and skeletal muscle (PubMed:7515481). Required for normal heart morphogenesis, skin development and ossification during embryogenesis (PubMed:18003898, PubMed:7515481). |
| Sequence | MGDGGGEGED EVQFLRTDDE VVLQCSATVL KEQLKLCLAA EGFGNRLCFL EPTSNAQNVP 60 PDLAICCFIL EQSLSVRALQ EMLANTVEAG VESSQGGGHR TLLYGHAILL RHAHSRMYLS 120 CLTTSRSMTD KLAFDVGLQE DATGEACWWT MHPASKQRSE GEKVRVGDDL ILVSVSSERY 180 LHLSTASGEL QVDASFMQTL WNMNPICSGC EEGFVTGGHV LRLFHGHMDE CLTISPSDSD 240 DQRRLVYYEG GPVCTHARSL WRLEPLRISW SGSHLRWGQP LRIRHVTTGR YLGLTEDQGL 300 VVVDASKAHT KATSFCFRIS KEKLDVAPKR DVEGMGPPEI KYGESLCFVQ HVASGLWLTY 360 AAPDPKALRL GVLKKKAMLH QEGHMDDALS LTRCQQEESQ AARMIYSTAG LYNQFIKGLD 420 SFSGKPRGSG PPAGSALPIE GVILSLQDLI GYFEPPSEEL QHEEKQTKLR SLRNRQSLFQ 480 EEGMLSLVLN CIDRLNVYTT AAHFAEFAGE EAAESWKEIV NLLYELLASL IRGNRTNCAL 540 FSTNLDWLVS KLDRLEASSG ILEVLYCVLI ESPEVLNIIQ ENHIKSIISL LDKHGRNHKV 600 LDVLCSLCVC NGVAVRSNQD LITENLLPGR ELLLQTNLIN YVTSIRPNIF VGRAEGSTQY 660 GKWYFEVMVD EVAPFLTAQA THLRVGWALS EGYSPYPGGG EGWGGNGVGD DLYSYGFDGL 720 HLWTGHVARP VTSPGQHLLA PEDVVSCCLD LSVPSISFRI NGCPVQGVFE SFNLDGLFFP 780 VVSFSAGIKV RFLLGGRHGE FKFLPPPGYA PCHEAVLPRE RLHLQPIKEY RREGPRGPHL 840 VGPSRCLSHL DFVPCPVDTI QIVLPPHLER IREKLAENIH ELWALTRIEQ GWTYGPVRDD 900 NKRLHPCLVN FHSLPEPERN YNLQMSGETL KTLLALGCHV GMADEKAEDN LKKTKLPKTY 960 MMSNGYKPAP LDLSHVRLTP AQTTLVDRLA ENGHNVWARD RVAQGWSYSA VQDIPARRNP 1020 RLVPYRLLDE ATKRSNRDSL CQAVRTLLGY GYNIEPPDQE PSQVDSQSRG DRARIFRAEK 1080 SYAVQSGRWY FEFEAVTTGE MRVGWARPEL RPDVELGADD LAYVFNGHRG QRWHLGSEPF 1140 GRPWQSGDVV GCMIDLTENT IIFTLNGEVL MSDSGSETAF RDIEIGDGFL PVCSLGPGQV 1200 GHLNLGQDVS SLRFFAICGL QEGFEPFAIN MQRPVTTWFS KSLPQFEPVP LEHPHYEVAR 1260 MDGTVDTPPC LRLTHRTWGS QNSLVEMLFL RLSLPVQFHQ HFRCTAGATP LASPGLQPPA 1320 EDEARAAEPD TDYENLRRSA GGWGEAEGGK DGTAKEGTPG GTAQAGVEAQ PARAENEKDA 1380 TTEKNKKRGF LFKAKKVAMM TQPPSTPALP RLPRDVVPAD NRDDPEIILN TTTYYYSVRV 1440 FAGQEPSCVW VGWVTPDYHQ HDMSFDLSKV RAVTVTMGDE QGNVHSSLKC SNCYMVWGGD 1500 FVSPGQQGRI SHTDLVIGCL VDLATGLMTF TANGKESNTF FQVEPNTKLF PAVFVLPTHQ 1560 NVVQFELGKQ KNIMPLSAAM FLSERKNPAP QCPPRLEVQM LMPVSWSRMP NHFLQVDTRR 1620 AGERLGWAVQ CQEPLMMMAL HIPEENRCMD ILELSERLDL QRFHSHTLSL YRSVCALGNN 1680 RVAHALCSHV DQAQLLHALE DARLPGPLRA GYYDLLISIH LESACRSRRS MLSEYIVPLT 1740 PETRAITLFP PGRSAEDGPR RHGLPGVGVT TSLRPPHHFS PPCFVVALPA AGATEAPARL 1800 SPAIPLEALR DKALRMLGEA VRDGGQHARD PVGGSVEFQF VPVLKLVSTL LVMGVFSDED 1860 VKQILKMIEP EVFREEEEVE EEGEEEEEDE EEKEEDEEEE AHEKEDEEKE EAEDAAEEEK 1920 EELEEGLLQM KLPESVKLQM CHLLEYFCDQ ELQHRVESLA AFAECYVDKM QGNQRGRYGL 1980 LMKAFTMSAA ETARRTREFR SPPQEQINML LHFKNGADEE ECPLPEEIRQ ELVNFHQDLL 2040 AHCGIQLEGE EEEPEEESTL GSRLMSLLEK VKLVKKTEEK PEEEPAPEEH KPQSLQELVS 2100 HTVVRWAQED FVQSPELVRA MFSLLHRQYD GLGELLRALP RAYTISVSSV EDTMSLLECL 2160 GQIRSLLIVQ MGPQEENLMI QSIGNIMNNK VFYQHPNLMR ALGMHETVME VMVNVLGGGE 2220 SKEIRFPKMV TSCCRFLCYF CRISRQNQRS MFDHLSYLLE NSGIGLGMQG STPLDVAAAS 2280 VIDNNELALA LQEQDLEKVV SYLAGCGLQS CPMLLAKGYP DIGWNPCGGE RYLDFLRFAV 2340 FVNGESVEEN ANVVVRLLIR KPECFGPALR GEGGSGLLAA IEEAIRISED PARDGPGVRR 2400 DRRREHFGEE PPEENRVHLG HAIMSFYAAL IDLLGRCAPE THLIQAGKGE ALRIRAILRS 2460 LVPLDDLVGI ISLPLQIPTL GKDGALVQPK MSASFVPDHK ASMVLFLDRV YGIENQDFLL 2520 HVLDVGFLPD MRAAASLDTA TFSTTEMALA LNRYLCLAVL PLITKCAPLF AGTEHRAIMV 2580 DSMLHTVYRL SRGRSLTKAQ RDVIEDCLMA LCRYIRPSML QHLLRRLVFD VPILNEFAKM 2640 PLKLLTNHYE RCWKYYCLPT GWANFGVTSE EELHLTRKLF WGIFDSLAHK KYDQELYRIA 2700 MPCLCAIAGA LPPDYVDASY SSKTEKKATV DAEGNFDPRP VETLNVIIPE KLDSFINKFA 2760 EYTHEKWAFD KIQNNWSYGE NIDEELKTHP MLRPYKTFSE KDKEIYRWPI KESLKAMIAW 2820 EWTVEKAREG EEEKTEKKKT RKISQTAQTY DPREGYNPQP PDLSVVTLSR ELQAMAEQLA 2880 ENYHNTWGRK KKQELEAKGG GSHPLLVPYD TLTAKEKARD REKAQELLKF LQMNGYAVTR 2940 GLKDMELDTS SIEKRFAFGF LQQLLRWMDI SQEFIAHLEA VVSSGRVEKS PHEQEIKFFA 3000 KILLPLINQY FTNHCLYFLS TPAKVLGSGG HASNKEKEMI TSLFCKLAAL VRHRVSLFGT 3060 DAPAVVNCLH ILARSLDART VMKSGPEIVK AGLRSFFESA SEDIEKMVEN LRLGKVSQAR 3120 TQVKGVGQNL TYTTVALLPV LTTLFQHIAQ HQFGDDVILD DVQVSCYRTL CSIYSLGTTR 3180 NPYVEKLRPA LGECLARLAA AMPVAFLEPE LNEYNACSVY TTKSPRERAI LGLPNSVEEM 3240 CPDIPVLERL MAEIGGLAES GARYTEMPHV IEITLPMLCS YLPRWWERGP EAPPPALPAG 3300 APPPCTAVTS DHLNSLLGNI LRIIVNNLGI DEASWMKRLA VFAQPIVSRA RPELLRSHFI 3360 PTIGRLRKRA GKVVAEEEQL RLEAKAEAEE GELLVRDEFS VLCRDLYALY PLLIRYVDNN 3420 RAHWLTEPNP NAEELFRMVG EIFIYWSKSH NFKREEQNFV VQNEINNMSF LTADNKSKMA 3480 KAGDVQSGGS DQERTKKKRR GDRYSVQTSL IVATLKKMLP IGLNMCAPTD QDLIVLAKAR 3540 YALKDTDEEV REFLQNNLNL QGKVEGSPSL RWQMALYRGV PGREEDADDP EKIVRRVQEV 3600 SAVLYHLDQT EHPYKSKKAV WHKLLSKQRR RAVVACFRMT PLYNLPTHRA CNMFLESYKA 3660 SWILTEDHSF EDRMIDDLSK AGEQEEEEEE VEEKKPDPLH QLVLHFSRTA LTEKSKLDED 3720 YLYMAYADIM AKSCHLEEGG ENGEEGGEEE EVEVSFEEKE MEKQRLLYQQ SRLHNRGAAE 3780 MVLQMISACK GETGAMVSST LKLGISILNG GNAEVQQKML DYLKDKKEVG FFQSIQALMQ 3840 TCSVLDLNAF ERQNKAEGLG MVNEDGTVIN RQNGEKVMAD DEFTQDLFRF LQLLCEGHNN 3900 DFQNYLRTQT GNTTTINIII CTVDYLLRLQ ESISDFYWYY SGKDVIEEQG KRNFSKAMSV 3960 AKQVFNSLTE YIQGPCTGNQ QSLAHSRLWD AVVGFLHVFA HMMMKLAQDS SQIELLKELL 4020 DLQKDMVVML LSLLEGNVVN GMIARQMVDM LVESSSNVEM ILKFFDMFLK LKDIVGSEAF 4080 QDYVTDPRGL ISKKDFQKAM DSQKQFTGPE IQFLLSCSEA DENEMINCEE FANRFQEPAR 4140 DIGFNVAVLL TNLSEHVPHD PRLRNFLELA ESILEYFRPY LGRIEIMGAS RRIERIYFEI 4200 SETNRAQWEM PQVKESKRQF IFDVVNEGGE SEKMEMFVSF CEDTIFEMQI AAQISEPEGE 4260 PEEDEDEGAE EAEEGAAGSD GSGSAAAAGV WVWLAATAGR TLRGLSYRSL RRRVRRLRRL 4320 TAREAATAVA ALLWALVTRA GGAGAGAAAG ALRLLWGSLF GGGLVDSAKK VTVTELLAGM 4380 PDPTGDEVHG QQPSGAGSDA EGEGEGEGEG DAADGAGDEE AAADQAGTGG ADGAVAVADG 4440 SPFRPEGAGG LGDMGDTTPV EPPTPEGSPI LKRKLGVDGE EEEPPPEPEP EPEPEPEKAD 4500 TENGEKEVPE PPPEPPKKTP PPPPPKKEEA GGAGLEEFWG ELEVQRVKFL NYLSRNFYTL 4560 RFLALFLAFA INFILLFYKV SDSPPGEDDI EGSGAGDMSG AGSGDGSGWG SRAGEEVEGD 4620 EDENMVYYFL EESTGYMEPA LRCLSLLHTL VAFLCIIGYN CLKVPLVIFK REKELARKLE 4680 FDGLYITEQP EDDDVKGQWD RLVLNTPSFP SNYWDKFVKR KVLDKHGDIF GRERIAELLG 4740 MDLASLEITA HNERKPDPPP GLLTWIMSID VKYQIWKFGV IFTDNSFLYL GWYMVMSLLG 4800 HYNNFFFAAH LLDIAMGVKT LRTILSSVTH NGKQLVMTVG LLAVVVYLYT VVAFNFFRKF 4860 YNKSEDEDEP DMKCDDMMTC YLFHMYVGVR AGGGIGDEIE DPAGDEYELY RVVFDITFFF 4920 FVIVILLAII QGLIIDAFGE LRDQQEQVKE DMETKCFICG IGSDYFDTTP HGFETHTLEE 4980 HNLANYMFFL MYLINKDETE HTGQESYVWK MYQERCWDFF PAGDCFRKQY EDQLS 5035 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0002020 | protease binding | IPI |
| GO:0005219 | ryanodine-sensitive calcium-release channel activity | ISS |
| GO:0005219 | ryanodine-sensitive calcium-release channel activity | ISO |
| GO:0005219 | ryanodine-sensitive calcium-release channel activity | IBA |
| GO:0005219 | ryanodine-sensitive calcium-release channel activity | IMP |
| GO:0005245 | voltage-gated calcium channel activity | IDA |
| GO:0005262 | calcium channel activity | IMP |
| GO:0005509 | calcium ion binding | ISS |
| GO:0005509 | calcium ion binding | IBA |
| GO:0005515 | protein binding | IPI |
| GO:0005516 | calmodulin binding | IEA |
| GO:0005524 | ATP binding | ISS |
| GO:0019899 | enzyme binding | IPI |
| GO:0048763 | calcium-induced calcium release activity | ISO |
| GO:0048763 | calcium-induced calcium release activity | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001666 | response to hypoxia | ISO |
| GO:0003151 | outflow tract morphogenesis | IMP |
| GO:0006816 | calcium ion transport | ISO |
| GO:0006816 | calcium ion transport | IDA |
| GO:0006936 | muscle contraction | IMP |
| GO:0006936 | muscle contraction | IDA |
| GO:0006937 | regulation of muscle contraction | TAS |
| GO:0014808 | release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | ISS |
| GO:0014808 | release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | ISO |
| GO:0014808 | release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | IMP |
| GO:0031000 | response to caffeine | ISO |
| GO:0043588 | skin development | IMP |
| GO:0043931 | ossification involved in bone maturation | IMP |
| GO:0048741 | skeletal muscle fiber development | IMP |
| GO:0051209 | release of sequestered calcium ion into cytosol | ISO |
| GO:0051209 | release of sequestered calcium ion into cytosol | IMP |
| GO:0051209 | release of sequestered calcium ion into cytosol | IBA |
| GO:0051289 | protein homotetramerization | ISS |
| GO:0051480 | regulation of cytosolic calcium ion concentration | ISO |
| GO:0070296 | sarcoplasmic reticulum calcium ion transport | ISO |
| GO:0071277 | cellular response to calcium ion | ISS |
| GO:0071313 | cellular response to caffeine | ISS |
| GO:0071313 | cellular response to caffeine | ISO |
| GO:0071313 | cellular response to caffeine | IMP |
| GO:0071318 | cellular response to ATP | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005623 | cell | IEA |
| GO:0005737 | cytoplasm | ISO |
| GO:0005790 | smooth endoplasmic reticulum | IBA |
| GO:0005790 | smooth endoplasmic reticulum | IDA |
| GO:0005886 | plasma membrane | ISO |
| GO:0005886 | plasma membrane | IBA |
| GO:0005938 | cell cortex | ISO |
| GO:0014802 | terminal cisterna | ISS |
| GO:0014802 | terminal cisterna | ISO |
| GO:0016020 | membrane | IDA |
| GO:0016529 | sarcoplasmic reticulum | ISO |
| GO:0016529 | sarcoplasmic reticulum | IDA |
| GO:0030018 | Z disc | IBA |
| GO:0030314 | junctional membrane complex | IDA |
| GO:0030315 | T-tubule | IDA |
| GO:0030659 | cytoplasmic vesicle membrane | IBA |
| GO:0031234 | extrinsic component of cytoplasmic side of plasma membrane | ISO |
| GO:0031301 | integral component of organelle membrane | ISS |
| GO:0031674 | I band | ISO |
| GO:0032991 | protein-containing complex | IDA |
| GO:0033017 | sarcoplasmic reticulum membrane | ISO |
| GO:0033017 | sarcoplasmic reticulum membrane | IDA |
| GO:0033017 | sarcoplasmic reticulum membrane | IBA |
| GO:0034704 | calcium channel complex | IBA |
| GO:0042383 | sarcolemma | ISO |
| GO:0042383 | sarcolemma | IBA |
| GO:1990425 | ryanodine receptor complex | ISS |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-2672351 | Stimuli-sensing channels | IEA |
| R-MMU-382551 | Transport of small molecules | IEA |
| R-MMU-397014 | Muscle contraction | IEA |
| R-MMU-5576891 | Cardiac conduction | IEA |
| R-MMU-5578775 | Ion homeostasis | IEA |
| R-MMU-983712 | Ion channel transport | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0067 | ATP-binding |
| KW-0106 | Calcium |
| KW-0107 | Calcium channel |
| KW-0109 | Calcium transport |
| KW-0112 | Calmodulin-binding |
| KW-0217 | Developmental protein |
| KW-0407 | Ion channel |
| KW-0406 | Ion transport |
| KW-1071 | Ligand-gated ion channel |
| KW-0472 | Membrane |
| KW-0479 | Metal-binding |
| KW-0547 | Nucleotide-binding |
| KW-0597 | Phosphoprotein |
| KW-0675 | Receptor |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0702 | S-nitrosylation |
| KW-0703 | Sarcoplasmic reticulum |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |
| KW-0813 | Transport |
| InterPro ID | InterPro Term |
|---|---|
| IPR001870 | B30.2/SPRY |
| IPR043136 | B30.2/SPRY_sf |
| IPR013320 | ConA-like_dom_sf |
| IPR011992 | EF-hand-dom_pair |
| IPR014821 | Ins145_P3_rcpt |
| IPR005821 | Ion_trans_dom |
| IPR036300 | MIR_dom_sf |
| IPR016093 | MIR_motif |
| IPR013662 | RIH_assoc-dom |
| IPR000699 | RIH_dom |
| IPR013333 | Ryan_recept |
| IPR003032 | Ryanodine_rcpt |
| IPR009460 | Ryanrecept_TM4-6 |
| IPR035910 | RyR/IP3R_RIH_dom_sf |
| IPR033215 | RyR1 |
| IPR035761 | SPRY1_RyR |
| IPR035764 | SPRY2_RyR |
| IPR035762 | SPRY3_RyR |
| IPR003877 | SPRY_dom |