WormBase Tree Display for Gene: WBGene00006801
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| WBGene00006801 | SMap | S_parent | Sequence | CHROMOSOME_V | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | unc-68 | Person_evidence | WBPerson261 | |||||
| Sequence_name | K11C4.5 | ||||||||
| Molecular_name (48) | |||||||||
| Other_name | ryr-1 | ||||||||
| kra-1 | |||||||||
| CELE_K11C4.5 | Accession_evidence | NDB | BX284605 | ||||||
| Public_name | unc-68 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:43 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| 2 | 07 Nov 2007 17:12:59 | WBPerson2970 | Event | Acquires_merge | WBGene00021962 | ||||
| Acquires_merge | WBGene00021962 | ||||||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | unc | ||||||||
| Reference_allele | WBVar00143286 | ||||||||
| Allele (351) | |||||||||
| Legacy_information | See also e2313 | ||||||||
| [Kagawa H] pka ryr-1, for ryanodine receptor. 46 exons, encodes 5071 aa predicted protein. e540 (Unc-68) is intron 21 splice acceptor mutation, probable null. Weak allele kh30 (pka kra-1) exhibits ketamine-dependent convulsions followed by paralysis, mutation is S1444N change at putative PKC phosphorylation site. | |||||||||
| [C.elegansII] e540 : weak kinker, slow, thin; slight shrinker; head region but not body resistant to 1 mM levamisole, ouabain. ES3. ME2. OA>15: x14, x24, e932, e2313,s92spo, r1162 (presumed null, deletes all TM domains) etc.(all resemble e540). Cloned: 30 kb gene, 43 exons, encodes 4902 aa ryanodine receptor (43% identity to mammalian cardiac RYR). [Brenner 1974; Lewis et al. 1980; HK; TR] | |||||||||
| [C.elegansII] kh30 : semidominant convulsive behavior in 30mM ketamine or other NMDA antagonists; recessive cs Unc; variable motility; weakly resistant to cholinergic agonists, ouabain;normal muscle morphology. [HK] | |||||||||
| Complementation_data | [Kagawa H] fails to complement kh30 (pka kra-1) | ||||||||
| Strain (21) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00002850 | ||||||||
| 00002851 | |||||||||
| 00002852 | |||||||||
| 00002853 | |||||||||
| 00002854 | |||||||||
| 00002855 | |||||||||
| 00002856 | |||||||||
| 00002857 | |||||||||
| 00002858 | |||||||||
| 00002859 | |||||||||
| 00006463 | |||||||||
| 00006464 | |||||||||
| 00006465 | |||||||||
| 00006466 | |||||||||
| 00006467 | |||||||||
| 00023860 | |||||||||
| 00105697 | |||||||||
| 00105747 | |||||||||
| 00114857 | |||||||||
| 00114858 | |||||||||
| 00114859 | |||||||||
| 00114860 | |||||||||
| 00114861 | |||||||||
| 00114862 | |||||||||
| 00114863 | |||||||||
| 00114864 | |||||||||
| 00114865 | |||||||||
| 00114866 | |||||||||
| Ortholog (67) | |||||||||
| Paralog | WBGene00002173 | Caenorhabditis elegans | From_analysis | Panther | |||||
| WormBase-Compara | |||||||||
| Structured_description | Concise_description | unc-68 encodes a ryanodine receptor ortholog that is expressed in body-wall muscle cells and is required for normal body tension and locomotion; unc-68 mutants are flaccid, sluggish, and resistant to ryanodine, but have normal muscle ultrastructure; UNC-68 is dispensable for excitation-contraction coupling itself, but may amplify its calcium signals; the unc-68/kra-1(kh30) mutation is an S1444N substitution at a putative protein kinase C phosphorylation site; UNC-68 reduced unc-103(sy557)-induced spicule protraction by one half; unc-68 is orthologous to the human genes RYR1 (OMIM:180901, mutated in malignant hyperthermia and central core disease), RYR2 (OMIM:180902, mutated in stress-induced polymorphic ventricular tachycardia), and RYR3 (OMIM:180903). | Paper_evidence | WBPaper00002536 | |||||
| WBPaper00002749 | |||||||||
| WBPaper00005799 | |||||||||
| WBPaper00006125 | |||||||||
| Curator_confirmed | WBPerson1823 | ||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Predicted to enable calcium ion binding activity and ryanodine-sensitive calcium-release channel activity. Involved in locomotion; positive regulation of programmed cell death; and protein localization to organelle. Located in I band and sarcoplasmic reticulum. Expressed in body wall musculature; intestine; neurons; and non-striated muscle. Used to study congenital myopathy 1A and malignant hyperthermia. Human ortholog(s) of this gene implicated in several diseases, including catecholaminergic polymorphic ventricular tachycardia 1; intracranial vasospasm; and muscle tissue disease (multiple). Is an ortholog of human RYR1 (ryanodine receptor 1); RYR2 (ryanodine receptor 2); and RYR3 (ryanodine receptor 3). | Paper_evidence | WBPaper00065943 | ||||||
| Curator_confirmed | WBPerson324 | ||||||||
| WBPerson37462 | |||||||||
| Inferred_automatically | This description was generated automatically by a script based on data from the WS291 version of WormBase | ||||||||
| Date_last_updated | 29 Nov 2023 00:00:00 | ||||||||
| Disease_info | Experimental_model | DOID:3529 | Homo sapiens | Paper_evidence | WBPaper00059411 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 08 Jun 2021 00:00:00 | ||||||||
| DOID:8545 | Homo sapiens | Paper_evidence | WBPaper00059411 | ||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 08 Jun 2021 00:00:00 | ||||||||
| Potential_model (12) | |||||||||
| Modifies_disease | DOID:11723 | ||||||||
| Modifies_disease_in_annotation | WBDOannot00000746 | ||||||||
| Models_disease_asserted (14) | |||||||||
| Molecular_info | Corresponding_CDS (16) | ||||||||
| Corresponding_CDS_history | K11C4.5:wp166 | ||||||||
| K11C4.5:wp184 | |||||||||
| K11C4.5a:wp261 | |||||||||
| K11C4.5b:wp236 | |||||||||
| K11C4.5b:wp261 | |||||||||
| K11C4.5c:wp261 | |||||||||
| K11C4.5d:wp261 | |||||||||
| Corresponding_transcript (16) | |||||||||
| Other_sequence (63) | |||||||||
| Associated_feature (24) | |||||||||
| Experimental_info | RNAi_result (20) | ||||||||
| Expr_pattern | Expr1255 | ||||||||
| Expr1620 | |||||||||
| Expr2280 | |||||||||
| Expr2281 | |||||||||
| Expr2282 | |||||||||
| Expr13672 | |||||||||
| Expr13673 | |||||||||
| Expr1025192 | |||||||||
| Expr1032869 | |||||||||
| Expr1154288 | |||||||||
| Expr2017898 | |||||||||
| Expr2036034 | |||||||||
| Drives_construct | WBCnstr00006689 | ||||||||
| WBCnstr00010174 | |||||||||
| WBCnstr00010354 | |||||||||
| WBCnstr00010749 | |||||||||
| WBCnstr00015983 | |||||||||
| WBCnstr00015984 | |||||||||
| WBCnstr00039937 | |||||||||
| WBCnstr00039938 | |||||||||
| Construct_product | WBCnstr00000351 | ||||||||
| WBCnstr00000352 | |||||||||
| WBCnstr00006689 | |||||||||
| WBCnstr00010354 | |||||||||
| WBCnstr00010749 | |||||||||
| WBCnstr00014791 | |||||||||
| WBCnstr00016961 | |||||||||
| WBCnstr00017064 | |||||||||
| Antibody (12) | |||||||||
| Microarray_results (34) | |||||||||
| Expression_cluster (208) | |||||||||
| Interaction (56) | |||||||||
| Map_info | Map | V | Position | 0.477486 | Error | 0.002969 | |||
| Well_ordered | |||||||||
| Positive | Inside_rearr | sDf20 | |||||||
| Positive_clone | K11C4 | Inferred_automatically | From sequence, transcript, pseudogene data | ||||||
| M04C11 | |||||||||
| Negative | Outside_rearr | nDf31 | |||||||
| Negative_clone | M04C11 | ||||||||
| Mapping_data | 2_point | 310 | |||||||
| 2841 | |||||||||
| 3136 | |||||||||
| 4524 | |||||||||
| Multi_point (17) | |||||||||
| Pos_neg_data (16) | |||||||||
| Landmark_gene | |||||||||
| Reference (150) | |||||||||
| Remark | results of mutation site, phenotype, rescue appear in J. Mol. Biol. 267, 849-864. 1997 Sakube, Y., Ando, H. & Kagawa H. | ||||||||
| Method | Gene |
