| UniProt/SwissProt ID: | RYR1_HUMAN |
| Description: | ryanodine receptor 1 (skeletal) [Source:HGNC Symbol;Acc:10483] |
| Location: | chr19 q13.2 |
| Node attribute: | substrate; PPI(target) |
| Phosphorylation site |
| Position | PhosphoPeptide | Catalytic kinase | Source |
|---|---|---|---|
| T3494 | SDQERtKKKRR | PhosphoSitePlus | |
| T4826 | VKTLRtILSSV | Ion_trans | PhosphoSitePlus |
| S2459 | RAILRsLVPLE | PhosphoSitePlus | |
| T4823 | AMGVKtLRTIL | Ion_trans | PhosphoSitePlus |
| Y2761 | NKFAEyTHEKW | RyR | PhosphoSitePlus |
| Y3131 | GQNLTyTTVAL | TM | PhosphoSitePlus |
| S3951 | GKRNFsKAMSV | RegPhos | |
| S2594 | LSRGRsLTKAQ | PhosphoSitePlus | |
| Y1733 | SMLSEyIVPLT | PhosphoSitePlus | |
| S2843 | KTRKIsQSAQT | PKG_group | RegPhos |
| Y1965 | AFAERyVDKLQ | PhosphoSitePlus; HPRD | |
| T2848 | SQSAQtYDPRE | PhosphoSitePlus | |
| Y2935 | LQMNGyAVTRG | RyR | PhosphoSitePlus |
| S2843 | KTRKIsQSAQT | PKACa | RegPhos |
| T679 | LTAQAtHLRVG | SPRY | PhosphoSitePlus |
| S4829 | LRTILsSVTHN | Ion_trans | PhosphoSitePlus |
| S1731 | RRSMLsEYIVP | PhosphoSitePlus | |
| T4324 | RLRRLtAREAA | RegPhos | |
| T4330 | AREAAtAVAAL | PhosphoSitePlus | |
| S2843 | KTRKIsQSAQT | PRKG1 | HPRD |
| S2843 | KTRKIsQSAQT | PKG1 | RegPhos |
| Y245 | QRRLVyYEGGA | MIR | PhosphoSitePlus |
| T675 | VTPFLtAQATH | SPRY | PhosphoSitePlus |
| S2843 | KTRKIsQSAQT | CaMK2g | RegPhos |
| S3668 | LTEDHsFEDRM | PhosphoSitePlus | |
| S2843 | KTRKIsQSAQT | PKA_group | RegPhos |
| T3133 | NLTYTtVALLP | TM | PhosphoSitePlus |
| S2863 | QPPDLsAVTLS | RyR | PhosphoSitePlus |
| S1728 | CRSRRsMLSEY | PhosphoSitePlus | |
| T4832 | ILSSVtHNGKQ | Ion_trans | PhosphoSitePlus |
| Y2719 | YVDASySSKAE | PhosphoSitePlus | |
| T2762 | KFAEYtHEKWA | RyR | PhosphoSitePlus |
| Y2426 | AIMSFyAALID | PhosphoSitePlus | |
| Y1023 | PRLVPyRLLDE | RyR | PhosphoSitePlus |
| T1399 | KVAMMtQPPAT | PhosphoSitePlus | |
| S2868 | SAVTLsRELQA | RyR | PhosphoSitePlus |
| T3177 | IYSLGtTKNTY | PhosphoSitePlus | |
| T3132 | QNLTYtTVALL | TM | PhosphoSitePlus |
| S781 | FFPVVsFSAGV | SPRY | PhosphoSitePlus |
| T3079 | SLDARtVMKSG | HPRD; SysPTM | |
| S2843 | KTRKIsQSAQT | PRKACA | HPRD |
| Y2696 | YDPELyRMAMP | PhosphoSitePlus | |
| S2843 | KTRKIsQSAQT | PhosphoSitePlus | |
| S3489 | IQSGGsDQERT | PhosphoSitePlus | |
| Y3921 | ICTVDyLLRLQ | PhosphoSitePlus | |
| T3918 | NIIICtVDYLL | PhosphoSitePlus | |
| T3178 | YSLGTtKNTYV | PhosphoSitePlus | |
| T2596 | RGRSLtKAQRD | PhosphoSitePlus | |
| S4867 | KFYNKsEDEDE | Ion_trans | PhosphoSitePlus |
| S2843 | KTRKIsQSAQT | CAMK2G | HPRD |
| Y4864 | FFRKFyNKSED | Ion_trans | PhosphoSitePlus |
| T2543 | TATFStTEMAL | PhosphoSitePlus | |
| Dephosphorylation site |
| RYR1_HUMAN do not have dephosphorylation site. |
| Mutation site |
| Ensembl ID | Variation | Source | Cancer name | Pubmed |
|---|---|---|---|---|
| ENSP00000352608 | E187K | COSMIC | Skin Cancer | 21984974 |
| ENSP00000352608 | S2948W | TCGA | Ovarian Cancer | 21720365, 18772890 |
| ENSP00000347667 | K1918I | BIOMART | Breast Cancer | 21930507, 21930502 |
| ENSP00000352608 | R1974W | COSMIC | Ovarian Cancer | 21720365 |
| ENSP00000352608 | R1827H | COSMIC | Pancreatic Cancer | |
| ENSP00000354254 | D4057Y | BIOMART | Pancreatic Cancer | 21930507, 21930502 |
| ENSP00000352608 | V347M | COSMIC | Head and Neck Cancer | 21798893 |
| ENSP00000352608 | E3743G | TCGA | Ovarian Cancer | 21720365, 18772890 |
| ENSP00000352608 | S2948W | COSMIC | Ovarian Cancer | 21720365 |
| ENSP00000352608 | T3639M | TCGA | Ovarian Cancer | 21720365, 18772890 |
| ENSP00000347667 | D4057Y | BIOMART | Pancreatic Cancer | 21930507, 21930502 |
| ENSP00000352608 | S3314F | COSMIC | Skin Cancer | 21984974 |
| ENSP00000352608 | E5V | TCGA | Ovarian Cancer | 21720365, 18772890 |
| ENSP00000352608 | T1899K | COSMIC | Head and Neck Cancer | 21798893 |
| ENSP00000352608 | G3854R | COSMIC | Skin Cancer | 21984974 |
| ENSP00000352608 | E3743G | COSMIC | Ovarian Cancer | 21720365 |
| ENSP00000352608 | E4691V | TCGA | Ovarian Cancer | 21720365, 18772890 |
| ENSP00000354254 | R819Q | BIOMART | Pancreatic Cancer | 21930507, 21930502 |
| ENSP00000352608 | E4691V | COSMIC | Ovarian Cancer | 21720365 |
| ENSP00000352608 | G1184W | COSMIC | Ovarian Cancer | 21720365 |
| ENSP00000352608 | T3639M | COSMIC | Ovarian Cancer | 21720365 |
| ENSP00000352608 | R163C | COSMIC | Melanoma | 21499247 |
| ENSP00000354254 | K1918I | BIOMART | Breast Cancer | 21930507, 21930502 |
| ENSP00000352608 | Q1837H | COSMIC | Hepatocellular Carcinoma | 21822264 |
| ENSP00000352608 | M1647I | COSMIC | Head and Neck Cancer | 21798893 |
| ENSP00000347667 | E1250K | BIOMART | Gastric Cancer | 21930507, 21930502 |
| ENSP00000352608 | A1960S | COSMIC | Ovarian Cancer | 21720365 |
| ENSP00000352608 | E5V | COSMIC | Ovarian Cancer | 21720365 |
| ENSP00000352608 | K1918I | BIOMART | Breast Cancer | 21930507, 21930502 |
| ENSP00000352608 | A3541T | COSMIC | Ovarian Cancer | 21720365 |
| ENSP00000352608 | D4062Y | BIOMART | Pancreatic Cancer | 21930507, 21930502 |
| ENSP00000352608 | G4895D | COSMIC | Head and Neck Cancer | 21984974 |
| ENSP00000352608 | M80K | COSMIC | Ovarian Cancer | 21720365 |
| Differential expressed protein |
| RYR1_HUMAN is not differential expressed protein. |
| Hyperphosphorylation site |
| RYR1_HUMAN do not have hyperphosphorylation site. |
| Direct Interaction Pair |
| Source | Target | Relationship | Resource |
|---|---|---|---|
| ZAGL2_HUMAN | RYR1_HUMAN | kinase -> substrate | RegPhos |
| KCC2G_HUMAN | RYR1_HUMAN | kinase -> substrate | HPRD |
| KPCA_HUMAN | RYR1_HUMAN | kinase -> substrate | HPRD |
| KGP1_HUMAN | RYR1_HUMAN | kinase -> substrate | HPRD |
| BST1_HUMAN | RYR1_HUMAN | other | KEGG |
| Function Annotation |
| KEGG Pathway |
| KEGG ID | Pathway |
|---|---|
| hsa04020 | Calcium signaling pathway |
| hsa04730 | Long-term depression |
| Gene Ontology |
| GO ID | GO_Term | Evidence | Ontology |
|---|---|---|---|
| GO:0043234 | protein complex | IEA | cellular_component |
| GO:0015278 | calcium-release channel activity | TAS | molecular_function |
| GO:0002020 | protease binding | IEA | molecular_function |
| GO:0031000 | response to caffeine | IEA | biological_process |
| GO:0006811 | ion transport | IEA | biological_process |
| GO:0051480 | cytosolic calcium ion homeostasis | IEA | biological_process |
| GO:0016529 | sarcoplasmic reticulum | IEA | cellular_component |
| GO:0005938 | cell cortex | IDA | cellular_component |
| GO:0031674 | I band | IDA | cellular_component |
| GO:0005219 | ryanodine-sensitive calcium-release channel activi | IEA | molecular_function |
| GO:0006874 | cellular calcium ion homeostasis | IEA | biological_process |
| GO:0005262 | calcium channel activity | IEA | molecular_function |
| GO:0048741 | skeletal muscle fiber development | IEA | biological_process |
| GO:0043931 | ossification involved in bone maturation | ISS | biological_process |
| GO:0005245 | voltage-gated calcium channel activity | ISS | molecular_function |
| GO:0006936 | muscle contraction | IEA | biological_process |
| GO:0005737 | cytoplasm | IDA | cellular_component |
| GO:0051209 | release of sequestered calcium ion into cytosol | IEA | biological_process |
| GO:0048741 | skeletal muscle fiber development | ISS | biological_process |
| GO:0016021 | integral to membrane | IEA | cellular_component |
| GO:0033017 | sarcoplasmic reticulum membrane | IEA | cellular_component |
| GO:0033017 | sarcoplasmic reticulum membrane | ISS | cellular_component |
| GO:0006936 | muscle contraction | ISS | biological_process |
| GO:0071313 | cellular response to caffeine | ISS | biological_process |
| GO:0005790 | smooth endoplasmic reticulum | TAS | cellular_component |
| GO:0051480 | cytosolic calcium ion homeostasis | ISS | biological_process |
| GO:0005886 | plasma membrane | IDA | cellular_component |
| GO:0001666 | response to hypoxia | IDA | biological_process |
| GO:0071313 | cellular response to caffeine | IEA | biological_process |
| GO:0005219 | ryanodine-sensitive calcium-release channel activi | ISS | molecular_function |
| GO:0030314 | junctional membrane complex | IEA | cellular_component |
| GO:0014802 | terminal cisterna | ISS | cellular_component |
| GO:0005216 | ion channel activity | IEA | molecular_function |
| GO:0014701 | junctional sarcoplasmic reticulum membrane | TAS | cellular_component |
| GO:0005887 | integral to plasma membrane | TAS | cellular_component |
| GO:0043588 | skin development | IEA | biological_process |
| GO:0043588 | skin development | ISS | biological_process |
| GO:0031000 | response to caffeine | ISS | biological_process |
| GO:0070588 | calcium ion transmembrane transport | IEA | biological_process |
| GO:0003151 | outflow tract morphogenesis | ISS | biological_process |
| GO:0030315 | T-tubule | IEA | cellular_component |
| GO:0016020 | membrane | IEA | cellular_component |
| GO:0014808 | release of sequestered calcium ion into cytosol by | IEA | biological_process |
| GO:0055085 | transmembrane transport | IEA | biological_process |
| GO:0016529 | sarcoplasmic reticulum | ISS | cellular_component |
| GO:0014808 | release of sequestered calcium ion into cytosol by | ISS | biological_process |
| GO:0005509 | calcium ion binding | IEA | molecular_function |
| GO:0006816 | calcium ion transport | ISS | biological_process |
| GO:0043931 | ossification involved in bone maturation | IEA | biological_process |
| GO:0005262 | calcium channel activity | ISS | molecular_function |
| GO:0005515 | protein binding | IEA | molecular_function |
| GO:0051209 | release of sequestered calcium ion into cytosol | ISS | biological_process |
| GO:0005516 | calmodulin binding | ISS | molecular_function |
| GO:0003151 | outflow tract morphogenesis | IEA | biological_process |
| GO:0005245 | voltage-gated calcium channel activity | IEA | molecular_function |
| GO:0006816 | calcium ion transport | IEA | biological_process |