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0RYR1_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameRYR1
DescriptionRyanodine receptor 1 (skeletal muscle-type ryanodine receptor) (ryr1) (ryr-1) (skeletal muscle calcium release channel).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005887 integral to plasma membrane (TAS)
0005790 smooth endoplasmic reticulum (TAS)
0015278 calcium-release channel activity (TAS)
0006816 calcium ion transport (TAS)
0006936 muscle contraction (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains assigned to SynO:
This is a domain found in ryanodine.nositol trisphosphate receptor and protein O-mannosyltransferase. Inositol 1..-trisphosphate (InsP3) is an intracellular second messenger that transduces growth factor and neurotransmitter signals. InsP3 mediates the release of Ca2+ from intracellular stores by binding to specific Ca2+ channel-coupled receptors. Ryanodine receptors are involved in communication between transverse-tubules and the sarcoplamic reticulum of cardiac and skeletal muscle. The proteins function as a Ca2+-release channels following depolarisation of transverse-tubules . The function is modulated by Ca2+.g2+.TP and calmodulin. Deficiency in the ryanodine receptor may be the cause of malignant hyperthermia (MH) and of central core disease of muscle (CCD) . protein O-mannosyltransferases transfer mannose from DOL-P-mannose to ser or thr residues on proteins.
  IPR003608:MIR
InterPro domains unassigned to SynO:
This eukaryotic domain is found in ryanodine receptors (RyR) and inositol 1..-trisphosphate receptors (IP3R) which together form a superfamily of homotetrameric ligand-gated intracellular Ca2+ channels . There seems to be no known function for this domain . Also see the IP3-binding domain and .
  IPR013662:RyR and IP3R Homology associated
The release of Ca2+ ions from intracellular stores is a key step in a wide variety of cellular functions. In striated muscle.he release of Ca2+ from the sarcoplasmic reticulum (SR) leads to muscle contraction. Ca2+ release occurs through large.igh-conductance Ca2+ release channels.lso known as ryanodine receptors (RyRs) because they bind the plant alkaloid ryanodine with high affinity and specificity .This region covers TM regions 4-6 of the ryanodine receptor 1 family.
  IPR009460:Ryanodine Receptor TM 4-6
Ryanodine and Inositol 1..-trisphosphate (IP3) receptors are intracellular Ca2+-release channels. They become activated upon binding of their respective ligands.a2+ and IP3.pening an intrgral Ca2+ channel. Ryanodine receptor activation is a key component of muscular contraction.heir activation allowing release of Ca2+ from the sarcoplasmic reticulum. Mutations in the ryanodine receptor lead to malignant hyperthermia susceptibility the and central core disease of muscle.
  IPR000699:Intracellular calcium-release channel
This domain is called RyR for Ryanodine receptor . The domain is found in four copies in the ryanodine receptor. The function of this domain is unknown.
  IPR003032:Ryanodine receptor Ryr
The SPRY domain is of unknown function. Distant homologues are domains inbutyrophilin/marenostrin/pyrin .Ca2+-release from the sarcoplasmic or endoplasmic reticulum.he intracellular Ca2+ store.s mediated by the ryanodine receptor (RyR) and/or the inositol trisphosphate receptor (IP3R).
  IPR003877:SPla/RYanodine receptor SPRY
This group of proteins is found in sodium.otassium.nd calcium ion channels proteins. The proteins have 6 transmembrane helices in which the last two helices flank a loop which determines ion selectivity. In some Na channels proteins the domain is repeated four times.hereas in others (e.g. K channels) the protein forms a tetramer in the membrane. A bacterial structure of the protein is known for the last two helices but is not included in the Pfam family due to it lacking the first four helices.
  IPR005821:Ion transport
This domain consists of a duplication of two EF-hand units.here each unit is composed of two helices connected by a twelve-residue calcium-binding loop. The calcium ion in the EF-hand loop is coordinated in a pentagonal bipyramidal configuration. Many calcium-binding proteins contain an EF-hand type calcium-binding domain . These include: calbindin D9K.100 proteins such as calcyclin.olcalcin phl p 7 (a calcium-binding pollen allergen).steonectin.arvalbumin.almodulin family of proteins (troponin C.altractin.dc4p.yosin essential chain.alcineurin.ecoverin.eurocalcin).lasmodial-specific CaII-binding protein Cbp40.enta-EF-Hand proteins (sorcin.rancalcin.alpain).s well as multidomain proteins such as phosphoinositide-specific phospholipase C.ystrophin.b1 and alpha-actinin. The fold consists of four helices and an open array of two hairpins.
  IPR011992:EF-Hand type
Ryanodine receptors are involved in communication between transverse-tubulesand the sarcoplamic reticulum of cardiac and skeletal muscle. The proteinsfunction as a Ca2+-release channels following depolarisation of transverse-tubules . The function is modulated by Ca2+.g2+.TP and calmodulin.Deficiency in the ryanodine receptor may be the cause of malignanthyperthermia (MH) and of central core disease of muscle (CCD) . MH isan autosomal dominant disorder of skeletal muscle and is a principalcause of death due to anaesthesia.Calcium release activity of the receptors resides in the C-terminal regionof the protein.he remaining part of the molecule forming a footstructure that spans the junctional gap between the sarcoplamic reticulumand the transverse-tubule. The foot structure may interact with thecytoplasmic region of the dihydropyridine receptor.Analysis of the sequence reveals 10 potential transmembrane (TM) regionsin the C-terminal fifth of the molecule and 2 further potential TM regionsnearer to the centre . These may contribute to the formation of the Ca2+conducting pore. The rest of the sequence is hydrophilic.nd presumablyconstitutes the cytoplasmic domain of the protein.
  IPR013333:Ryanodine receptor, N-terminal
IPR013662:RIH_assoc 
Evalue:-253.795883178711 
Location:3509-4004IPR009460:RR_TM4-6 
Evalue:-120.22184753418 
Location:4382-4671IPR000699:RYDR_ITPR 
Evalue:-94.958610534668 
Location:439-643IPR000699:RYDR_ITPR 
Evalue:-88.8860549926758 
Location:2157-2365IPR003608:MIR 
Evalue:-75.7958831787109 
Location:211-390IPR003032:RyR 
Evalue:-63.0757217407227 
Location:849-943IPR003032:RyR 
Evalue:-61.4814872741699 
Location:2734-2828IPR003032:RyR 
Evalue:-59.6020584106445 
Location:963-1057IPR003032:RyR 
Evalue:-51.6777801513672 
Location:2854-2942IPR003877:SPRY 
Evalue:-42.9586067199707 
Location:1084-1207IPR003877:SPRY 
Evalue:-38.236572265625 
Location:1429-1569IPR003877:SPRY 
Evalue:-35.4317970275879 
Location:658-796IPR005821:Ion_trans 
Evalue:-13.5686359405518 
Location:4807-4937IPR003608:MIR 
Evalue:-8.92081832885742 
Location:159-204IPR003608:MIR 
Evalue:-5.67778062820435 
Location:97-152IPR011992:EF-Hand_type 
Evalue:0 
Location:4068-4132IPR013333:RYANODINER 
Evalue:0 
Location:58-79
SequencesProtein: RYR1_HUMAN (5038 aa)
mRNA: J05200 NM_000540
Local Annotation
Synapse Ontology
Postsynaptic compartment is represented by a patch of plasma membrane containing a packed array of neurotransmitter receptors and by an underlying dense matrix, the postsynaptic density (PSD).
sdb:0005 Postsynaptic compartment  (Evidence:keywords,domains)
Any process that activates or increases the rate, frequency or extent of synaptic growth at neuromuscular junction.
sdb:0047 positive regulation of synaptic growth at neuromuscular junction  (Evidence:keywords,domains)
those channels, like InsP3-gated calcium channels which activated by InsP3 and release calcium into plasma.
sdb:0117 ionotropic receptor on the ER  (Evidence:keywords,domains)
smooth ER is one of the membranous organelles in the spine. It contributes to the local regulation of Calcium signaling and homeostasis via calcium channels and calcium transporters in its membrane.
sdb:0137 smooth ER  (Evidence:keywords,domains)
protein kinase-catalyzed phosphorylation of specific ion channel subunits lead to cell surface expression of ion channel subunit
sdb:0201 cell surface expression of ion channel subunit  (Evidence:keywords,domains)
activation of calmodulin-dependent protein kinases
sdb:0204 activation of calmodulin-dependent protein kinase  (Evidence:keywords,domains)
calcium-regulated transcription factor
sdb:0215 calcium-regulated transcription factor  (Evidence:keywords,domains)
calcium dependent short-term forms of presynaptic plasticity
sdb:0234 calcium dependent short-term forms of presynaptic plasticity  (Evidence:keywords,domains)
Microglias, one kind of glias in CNS, are responsible for removing most of the waste and cellular debris from the CNS
sdb:0267 removing metabolic mass  (Evidence:keywords,domains)
intracellular calcium store release to change the concentration of cytosolic calcium.
sdb:0321 intracellular calcium store release  (Evidence:keywords,domains)
Calcium release from RyR (Ryanodine Receptor) in the SR (Sarcoplasmic Reticulum) is activated by the calcium induced-calcium-release
sdb:0325 RyR-CICR  (Evidence:keywords,domains)
KO assignmentK04961
  Level 3 annotation:
    ryanodine receptor 1 (skeletal)
  Level 2 annotation:
    Calcium signaling pathway
    Ion channels
    Long-term depression
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 59 residues, 43616179-43616354Exon2: 42 residues, 43623224-43623344Exon3: 37 residues, 43624828-43624933Exon4: 27 residues, 43626037-43626112Exon5: 28 residues, 43626197-43626276Exon6: 39 residues, 43626628-43626741Exon7: 33 residues, 43627063-43627157Exon8: 33 residues, 43628951-43629045Exon9: 27 residues, 43629173-43629248Exon10: 54 residues, 43630834-43630991Exon11: 57 residues, 43631128-43631293Exon12: 42 residues, 43634243-43634365Exon13: 67 residues, 43635298-43635494Exon14: 47 residues, 43637714-43637850Exon15: 34 residues, 43637930-43638026Exon16: 41 residues, 43638112-43638231Exon17: 46 residues, 43639976-43640110Exon18: 82 residues, 43640530-43640772Exon19: 66 residues, 43641625-43641818Exon20: 74 residues, 43642854-43643071Exon21: 37 residues, 43645902-43646007Exon22: 36 residues, 43646226-43646330Exon23: 30 residues, 43647118-43647202Exon24: 104 residues, 43648570-43648878Exon25: 69 residues, 43650089-43650292Exon26: 60 residues, 43651445-43651620Exon27: 71 residues, 43651784-43651993Exon28: 133 residues, 43655856-43656251Exon29: 46 residues, 43657797-43657930Exon30: 55 residues, 43660189-43660350Exon31: 57 residues, 43660914-43661080Exon32: 31 residues, 43665506-43665593Exon33: 77 residues, 43665769-43665996Exon34: 206 residues, 43668069-43668682Exon35: 91 residues, 43671656-43671923Exon36: 69 residues, 43672555-43672756Exon37: 39 residues, 43673100-43673212Exon38: 51 residues, 43674969-43675116Exon39: 93 residues, 43676831-43677105Exon40: 40 residues, 43678694-43678809Exon41: 46 residues, 43678888-43679021Exon42: 33 residues, 43679339-43679434Exon43: 47 residues, 43681587-43681723Exon44: 64 residues, 43682114-43682301Exon45: 38 residues, 43682387-43682496Exon46: 42 residues, 43683085-43683206Exon47: 58 residues, 43683300-43683470Exon48: 75 residues, 43684986-43685207Exon49: 32 residues, 43685359-43685450Exon50: 49 residues, 43686699-43686840Exon51: 56 residues, 43687227-43687391Exon52: 28 residues, 43687482-43687561Exon53: 32 residues, 43687788-43687878Exon54: 49 residues, 43688285-43688426Exon55: 27 residues, 43688782-43688857Exon56: 27 residues, 43688950-43689026Exon57: 43 residues, 43689308-43689432Exon58: 40 residues, 43690191-43690307Exon59: 24 residues, 43692977-43693045Exon60: 42 residues, 43693139-43693261Exon61: 18 residues, 43694040-43694090Exon62: 22 residues, 43694551-43694612Exon63: 81 residues, 43694724-43694963Exon64: 29 residues, 43697505-43697587Exon65: 45 residues, 43698566-43698697Exon66: 113 residues, 43699838-43700171Exon67: 82 residues, 43701693-43701934Exon68: 31 residues, 43705507-43705595Exon69: 33 residues, 43705696-43705789Exon70: 7 residues, 43706394-43706409Exon71: 59 residues, 43707811-43707982Exon72: 22 residues, 43709472-43709532Exon73: 48 residues, 43710126-43710264Exon74: 39 residues, 43710785-43710898Exon75: 34 residues, 43711078-43711175Exon76: 37 residues, 43711430-43711537Exon77: 19 residues, 43714969-43715021Exon78: 24 residues, 43715150-43715216Exon79: 35 residues, 43717199-43717299Exon80: 28 residues, 43717620-43717700Exon81: 27 residues, 43717795-43717872Exon82: 26 residues, 43718476-43718550Exon83: 8 residues, 43719229-43719247Exon84: 29 residues, 43720359-43720440Exon85: 31 residues, 43725826-43725915Exon86: 45 residues, 43726011-43726140Exon87: 37 residues, 43726250-43726355Exon88: 29 residues, 43728924-43729006Exon89: 64 residues, 43730712-43730900Exon90: 116 residues, 43743592-43743934Exon91: 273 residues, 43747438-43748251Exon92: 27 residues, 43749390-43749467Exon93: 50 residues, 43750252-43750397Exon94: 31 residues, 43753086-43753173Exon95: 86 residues, 43754498-43754750Exon96: 45 residues, 43755656-43755787Exon97: 16 residues, 43758398-43758441Exon98: 45 residues, 43760397-43760528Exon99: 22 residues, 43760623-43760684Exon100: 51 residues, 43762461-43762608Exon101: 47 residues, 43762849-43762984Exon102: 54 residues, 43767422-43767579Exon103: 23 residues, 43768417-43768482Exon104: 35 residues, 43768570-43768671Exon105: 19 residues, 43769004-43769056Exon106: 71 residues, 43769804-43770012Exon107: 2 residues, -Jump to RYR1_HUMANExon1: 51 residues, 43616202-43616354Exon2: 42 residues, 43623224-43623344Exon3: 37 residues, 43624828-43624933Exon4: 27 residues, 43626037-43626112Exon5: 28 residues, 43626197-43626276Exon6: 39 residues, 43626628-43626741Exon7: 33 residues, 43627063-43627157Exon8: 33 residues, 43628951-43629045Exon9: 27 residues, 43629173-43629248Exon10: 54 residues, 43630834-43630991Exon11: 57 residues, 43631128-43631293Exon12: 42 residues, 43634243-43634365Exon13: 67 residues, 43635298-43635494Exon14: 47 residues, 43637714-43637850Exon15: 34 residues, 43637930-43638026Exon16: 41 residues, 43638112-43638231Exon17: 46 residues, 43639976-43640110Exon18: 82 residues, 43640530-43640772Exon19: 66 residues, 43641625-43641818Exon20: 74 residues, 43642854-43643071Exon21: 37 residues, 43645902-43646007Exon22: 36 residues, 43646226-43646330Exon23: 30 residues, 43647118-43647202Exon24: 104 residues, 43648570-43648878Exon25: 69 residues, 43650089-43650292Exon26: 60 residues, 43651445-43651620Exon27: 71 residues, 43651784-43651993Exon28: 133 residues, 43655856-43656251Exon29: 46 residues, 43657797-43657930Exon30: 55 residues, 43660189-43660350Exon31: 57 residues, 43660914-43661080Exon32: 31 residues, 43665506-43665593Exon33: 77 residues, 43665769-43665996Exon34: 206 residues, 43668069-43668682Exon35: 91 residues, 43671656-43671923Exon36: 69 residues, 43672555-43672756Exon37: 39 residues, 43673100-43673212Exon38: 51 residues, 43674969-43675116Exon39: 93 residues, 43676831-43677105Exon40: 40 residues, 43678694-43678809Exon41: 46 residues, 43678888-43679021Exon42: 33 residues, 43679339-43679434Exon43: 47 residues, 43681587-43681723Exon44: 64 residues, 43682114-43682301Exon45: 38 residues, 43682387-43682496Exon46: 42 residues, 43683085-43683206Exon47: 58 residues, 43683300-43683470Exon48: 75 residues, 43684986-43685207Exon49: 32 residues, 43685359-43685450Exon50: 49 residues, 43686699-43686840Exon51: 56 residues, 43687227-43687391Exon52: 28 residues, 43687482-43687561Exon53: 32 residues, 43687788-43687878Exon54: 49 residues, 43688285-43688426Exon55: 27 residues, 43688782-43688857Exon56: 27 residues, 43688950-43689026Exon57: 43 residues, 43689308-43689432Exon58: 40 residues, 43690191-43690307Exon59: 24 residues, 43692977-43693045Exon60: 42 residues, 43693139-43693261Exon61: 18 residues, 43694040-43694090Exon62: 22 residues, 43694551-43694612Exon63: 81 residues, 43694724-43694963Exon64: 29 residues, 43697505-43697587Exon65: 45 residues, 43698566-43698697Exon66: 113 residues, 43699838-43700171Exon67: 82 residues, 43701693-43701934Exon68: 31 residues, 43705507-43705595Exon69: 33 residues, 43705696-43705789Exon70: 59 residues, 43707811-43707982Exon71: 22 residues, 43709472-43709532Exon72: 48 residues, 43710126-43710264Exon73: 39 residues, 43710785-43710898Exon74: 34 residues, 43711078-43711175Exon75: 37 residues, 43711430-43711537Exon76: 19 residues, 43714969-43715021Exon77: 24 residues, 43715150-43715216Exon78: 35 residues, 43717199-43717299Exon79: 28 residues, 43717620-43717700Exon80: 27 residues, 43717795-43717872Exon81: 26 residues, 43718476-43718550Exon82: 8 residues, 43719229-43719247Exon83: 29 residues, 43720359-43720440Exon84: 31 residues, 43725826-43725915Exon85: 45 residues, 43726011-43726140Exon86: 37 residues, 43726250-43726355Exon87: 29 residues, 43728924-43729006Exon88: 64 residues, 43730712-43730900Exon89: 116 residues, 43743592-43743934Exon90: 273 residues, 43747438-43748251Exon91: 27 residues, 43749390-43749467Exon92: 50 residues, 43750252-43750397Exon93: 31 residues, 43753086-43753173Exon94: 86 residues, 43754498-43754750Exon95: 45 residues, 43755656-43755787Exon96: 16 residues, 43758398-43758441Exon97: 45 residues, 43760397-43760528Exon98: 22 residues, 43760623-43760684Exon99: 51 residues, 43762461-43762608Exon100: 47 residues, 43762849-43762984Exon101: 54 residues, 43767422-43767579Exon102: 23 residues, 43768417-43768482Exon103: 35 residues, 43768570-43768671Exon104: 19 residues, 43769004-43769056Exon105: 81 residues, 43769804-43770042Exon106: 2 residues, -Jump to RYR1_HUMAN  
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Loci Cluster (Details)Loci: 3108 43830166-43913010 ~-83K 18756(ACTN4)(+)Loci: 4387 43953451-43955988 ~-3K 18760(LGALS7)(-)Loci: 3109 43971693-43974232 ~-3K 18761(LGALS7)(+)Loci: 4388 44061041-44082201 ~-21K 18769(SIRT2)(-)Loci: 3110 44082454-44091373 ~-9K 18775(NFKBIB)(+)Loci: 4389 44097746-44113376 ~-16K 18777(SARS2)(-)Loci: 3111 44113187-44115497 ~-2K 18779(MRPS12)(+)Loci: 3112 44308259-44361886 ~-54K 18787(PAK4)(+)Loci: 3107 43616179-43770042 ~-154K 18750(RYR1)(+)Link out to UCSC