WormBase Tree Display for Gene: WBGene00001131
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WBGene00001131 | SMap | S_parent | Sequence | CHROMOSOME_I | |||
---|---|---|---|---|---|---|---|
Identity (6) | |||||||
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 (10) | |||||||
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 |