WormBase Tree Display for Gene: WBGene00006801
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WBGene00006801 | SMap | S_parent | Sequence | CHROMOSOME_V | |||
---|---|---|---|---|---|---|---|
Identity (6) | |||||||
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 (28) | |||||||
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 | K11C4.5a.1 | ||||||
K11C4.5b.1 | |||||||
K11C4.5c.1 | |||||||
K11C4.5d.1 | |||||||
K11C4.5e.1 | |||||||
K11C4.5f.1 | |||||||
K11C4.5g.1 | |||||||
K11C4.5h.1 | |||||||
K11C4.5i.1 | |||||||
K11C4.5j.1 | |||||||
K11C4.5k.1 | |||||||
K11C4.5l.1 | |||||||
K11C4.5m.1 | |||||||
K11C4.5n.1 | |||||||
K11C4.5o.1 | |||||||
K11C4.5p.1 | |||||||
Other_sequence (63) | |||||||
Associated_feature (24) | |||||||
Experimental_info | RNAi_result (20) | ||||||
Expr_pattern (12) | |||||||
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 |