WormBase Tree Display for Gene: WBGene00001131
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| WBGene00001131 | SMap | S_parent | Sequence | CHROMOSOME_I | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | dys-1 | Person_evidence | WBPerson571 | |||||
| Sequence_name | F15D3.1 | ||||||||
| Molecular_name (30) | |||||||||
| Other_name | CELE_F15D3.1 | Accession_evidence | NDB | BX284601 | |||||
| Public_name | dys-1 | ||||||||
| DB_info | Database (12) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:23 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | dys | ||||||||
| Allele (647) | |||||||||
| Possibly_affected_by | WBVar02153522 | ||||||||
| Strain | WBStrain00002611 | ||||||||
| WBStrain00024335 | |||||||||
| WBStrain00024340 | |||||||||
| WBStrain00024342 | |||||||||
| WBStrain00024343 | |||||||||
| WBStrain00037736 | |||||||||
| WBStrain00004037 | |||||||||
| WBStrain00048693 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (37) | |||||||||
| Ortholog (37) | |||||||||
| Structured_description | Concise_description | The dys-1 gene encodes an ortholog of human DMD, which when mutated leads to Duchenne muscular dystrophy (OMIM:310200). | Paper_evidence | WBPaper00004103 | |||||
| WBPaper00005175 | |||||||||
| Curator_confirmed | WBPerson567 | ||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Predicted to enable actin binding activity and zinc ion binding activity. Involved in several processes, including forward locomotion; muscle cell cellular homeostasis; and sarcomere organization. Located in striated muscle dense body. Part of dystrobrevin complex. Expressed in body wall musculature; head muscle; pharyngeal muscle cell; and vulval muscle. Used to study Duchenne muscular dystrophy. Human ortholog(s) of this gene implicated in several diseases, including Becker muscular dystrophy; Duchenne muscular dystrophy; cognitive disorder; dilated cardiomyopathy (multiple); and ovarian cancer. Is an ortholog of human DMD (dystrophin) and UTRN (utrophin). | 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:11723 | Homo sapiens | Paper_evidence | WBPaper00003867 | ||||
| WBPaper00003395 | |||||||||
| WBPaper00044415 | |||||||||
| WBPaper00035094 | |||||||||
| Accession_evidence | OMIM | 300376 | |||||||
| 310200 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 22 May 2017 00:00:00 | ||||||||
| Potential_model | DOID:11723 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2928) | |||||
| DOID:0081164 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2928) | ||||||
| DOID:1561 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2928) | ||||||
| DOID:2394 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12635) | ||||||
| DOID:0110461 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2928) | ||||||
| DOID:12930 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2928) | ||||||
| DOID:1059 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2928) | ||||||
| DOID:9883 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2928) | ||||||
| Disease_relevance | Mutations in human dystrophin are associated with the Duchenne and Becker types of muscular dystrophy, that affect skeletal muscles used for movement, and heart (cardiac) muscle; in C. elegans, loss-of-function mutants in dys-1 (cx18,cx26,cx35,cx40), the ortholog of human dystrophin/utrophin, display locomotion defects like hyperactivity and hypercontraction, and are hypersensitive to acetylcholine and to the acetylcholinesterase inhibitor, aldicarb, suggesting that dys-1 plays a role in the muscle response to acetylcholine; a chimeric transgene in which the C-terminal end of the elegans DYS-1 protein is replaced by the human dystrophin sequence is able to partly suppress the phenotype of the dys-1 mutants; however, the genetic model for progressive myopathy in C. elegans consists of the dys-1 mutation combined with a mutation in hlh-1, the MyoD ortholog (dys-1(cx18);hlh-1(cc561ts), these animals display time-dependent muscle degeneration; use of this model has identified several genes, that play a role in muscle degeneration, eg., dyc-1/nitric oxide synthase (nNOS)-binding protein CAPON. | Homo sapiens | Paper_evidence | WBPaper00003867 | |||||
| Accession_evidence | OMIM | 300377 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 17 May 2017 00:00:00 | ||||||||
| Models_disease_asserted (21) | |||||||||
| Molecular_info | Corresponding_CDS | F15D3.1a | |||||||
| F15D3.1b | |||||||||
| F15D3.1c | |||||||||
| F15D3.1d | |||||||||
| F15D3.1e | |||||||||
| F15D3.1f | |||||||||
| F15D3.1g | |||||||||
| F15D3.1h | |||||||||
| F15D3.1i | |||||||||
| F15D3.1j | |||||||||
| Corresponding_CDS_history | F15D3.1a:wp47 | ||||||||
| Corresponding_transcript | F15D3.1a.1 | ||||||||
| F15D3.1b.1 | |||||||||
| F15D3.1c.1 | |||||||||
| F15D3.1d.1 | |||||||||
| F15D3.1e.1 | |||||||||
| F15D3.1f.1 | |||||||||
| F15D3.1g.1 | |||||||||
| F15D3.1h.1 | |||||||||
| F15D3.1i.1 | |||||||||
| F15D3.1j.1 | |||||||||
| Other_sequence (44) | |||||||||
| Associated_feature (19) | |||||||||
| Experimental_info | RNAi_result (13) | ||||||||
| Expr_pattern (12) | |||||||||
| Drives_construct | WBCnstr00003169 | ||||||||
| WBCnstr00010181 | |||||||||
| Construct_product | WBCnstr00007078 | ||||||||
| WBCnstr00008412 | |||||||||
| WBCnstr00010181 | |||||||||
| WBCnstr00011497 | |||||||||
| Regulate_expr_cluster | WBPaper00028474:dys-1_downregulated | ||||||||
| WBPaper00028474:dys-1_upregulated | |||||||||
| Antibody | WBAntibody00003001 | ||||||||
| Microarray_results (34) | |||||||||
| Expression_cluster (142) | |||||||||
| Interaction (61) | |||||||||
| Map_info | Map | I | Position | 9.11232 | |||||
| Positive | Positive_clone | F15D3 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | Multi_point | 4272 | |||||||
| 5386 | |||||||||
| Pseudo_map_position | |||||||||
| Reference (86) | |||||||||
| Remark | Sequence connection from [Segalat L] | ||||||||
| Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC. | CGC_data_submission | ||||||||
| [210510 skd] Modified Map position as it was a reverse physical that could not be fixed by automated methods. (9.05343) | |||||||||
| Method | Gene |
