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WormBase Tree Display for Gene: WBGene00004830

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Name Class

WBGene00004830EvidenceCGC_data_submission
SMapS_parentSequenceY51A2D
IdentityVersion1
NameCGC_nameslo-1Person_evidenceWBPerson689
Sequence_nameY51A2D.19
Molecular_name (39)
Other_namensy-3CGC_data_submission
CELE_Y51A2D.19Accession_evidenceNDBBX284605
Public_nameslo-1
DB_infoDatabase (12)
SpeciesCaenorhabditis elegans
HistoryVersion_change107 Apr 2004 11:29:36WBPerson1971EventImportedInitial conversion from geneace
StatusLive
Gene_info (11)
Disease_infoExperimental_modelDOID:1574Homo sapiensPaper_evidenceWBPaper00006275
Curator_confirmedWBPerson324
Date_last_updated29 Apr 2019 00:00:00
DOID:11723Homo sapiensPaper_evidenceWBPaper00027149
Accession_evidenceOMIM310200
Curator_confirmedWBPerson324
Date_last_updated12 Jun 2014 00:00:00
Potential_modelDOID:10652Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:6284)
DOID:0111910Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:18867)
DOID:0070442Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:6284)
DOID:1827Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:6284)
Disease_relevanceMutations 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; the C. elegans model for progressive myopathy consists of the elegans dystrophin/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; C. elegans mutants for slo-1 (cx29, cx42), which belongs to the family of BK (Slo) potassium channels activated synergistically by both intra-cellular calcium and voltage, exhibit hyperactivity similar to dys-1 mutants; when slo-1 is combined with the mutation in the MyoD/hlh-1 (hlh-1(cc561); slo-1(cx29)), the double mutant exhibits progressive muscle degeneration; further, slo-1 function and localization is dependent on the C. elegans dystrophin/dys-1; these studies in the worm model reveal dystrobrevin-dependent BK channel function involved in dystrophin-dystrobrevin associated diseases.Homo sapiensPaper_evidenceWBPaper00027149
Accession_evidenceOMIM310200
Curator_confirmedWBPerson324
Date_last_updated23 Jun 2014 00:00:00
Models_disease_assertedWBDOannot00000294
WBDOannot00000656
WBDOannot00000657
WBDOannot00000658
WBDOannot00000659
WBDOannot00000660
Molecular_infoCorresponding_CDS (13)
Corresponding_CDS_historyY51A2D.19:wp74
Corresponding_transcript (13)
Other_sequence (65)
Associated_featureWBsf1002916
WBsf1002917
WBsf1002918
WBsf1002919
WBsf1002920
WBsf1021484
WBsf1021485
WBsf1021486
Experimental_infoRNAi_resultWBRNAi00113603Inferred_automaticallyRNAi_primary
WBRNAi00057136Inferred_automaticallyRNAi_primary
WBRNAi00037348Inferred_automaticallyRNAi_primary
WBRNAi00007333Inferred_automaticallyRNAi_primary
Expr_pattern (15)
Drives_construct (24)
Construct_product (39)
AntibodyWBAntibody00000436
Microarray_results (44)
Expression_cluster (161)
Interaction (35)
Anatomy_functionWBbtf0240
WBbtf0241
WBbtf0242
Map_infoMapVPosition16.7585Error0.028814
PositivePositive_cloneY51A2DInferred_automaticallyFrom sequence, transcript, pseudogene data
Mapping_dataMulti_point5030
Reference (139)
RemarkUpdated Positive_clone tag from Y51A12, which looks like it might have been a typo. krb 11/03/02
MethodGene