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WormBase Tree Display for Gene: WBGene00001187

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Name Class

WBGene00001187SMapS_parentSequenceCHROMOSOME_IV
IdentityVersion2
NameCGC_nameegl-19Person_evidenceWBPerson268
Sequence_nameC48A7.1
Molecular_nameC48A7.1a
C48A7.1a.1
CE28820
C48A7.1b
CE31165
C48A7.1c
CE49477
C48A7.1b.1
C48A7.1c.1
Other_nameeat-12
pat-5
CELE_C48A7.1Accession_evidenceNDBBX284604
Public_nameegl-19
DB_infoDatabaseAceViewgene4I183
WormQTLgeneWBGene00001187
WormFluxgeneWBGene00001187
OMIMdisease310200
gene114205
114208
300110
NDBlocus_tagCELE_C48A7.1
PanthergeneCAEEL|WormBase=WBGene00001187|UniProtKB=Q8MQA1
familyPTHR45628
NCBIgene177513
RefSeqproteinNM_171379.6
NM_001380322.1
NM_001027908.6
TrEMBLUniProtAccQ8MQA1
W6RY76
G5EG02
UniProt_GCRPUniProtAccQ8MQA1
SpeciesCaenorhabditis elegans
HistoryVersion_change107 Apr 2004 11:29:23WBPerson1971EventImportedInitial conversion from geneace
202 Mar 2018 10:40:21WBPerson4025EventSplit_intoWBGene00303046
Split_intoWBGene00303046
StatusLive
Gene_info (13)
Disease_infoExperimental_modelDOID:11723Homo sapiensPaper_evidenceWBPaper00004950
Accession_evidenceOMIM310200
Curator_confirmedWBPerson324
Date_last_updated22 May 2017 00:00:00
DOID:0060173Homo sapiensPaper_evidenceWBPaper00061194
Curator_confirmedWBPerson324
Date_last_updated23 Mar 2021 00:00:00
Potential_model (11)
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 genetic model for progressive myopathy in C. elegans is a mutant of the elegans dystrophin ortholog, dys-1, combined with a mutation in hlh-1, the MyoD ortholog, (dys-1(cx18);hlh-1(cc561ts), these animals display time-dependent muscle degeneration; egl-19 is the major voltage-gated calcium channel of C.elegans muscles; egl-19 loss-of-function mutations cause lethality or flaccid paralysis, whereas gain-of-function mutations are myotonic; further, when egl-19 is knocked down by RNA interference in a dystrophin mutant (cx18) the animals display muscle degeneration/defects like disrupted actin filaments, aggregates of actin, or complete loss of the muscle cells; this worm model demonstrates that calcium channel activity is directly correlated with the progression of muscle degeneration induced by dystrophin mutations corroborating the role of calcium in the progression of Duchenne Muscular Dystrophy.Homo sapiensAccession_evidenceOMIM310200
Curator_confirmedWBPerson324
Models_disease_assertedWBDOannot00000289
WBDOannot00000426
WBDOannot00000901
WBDOannot00000902
Molecular_infoCorresponding_CDSC48A7.1a
C48A7.1b
C48A7.1c
Corresponding_CDS_historyC48A7.1d:wp264
Corresponding_transcriptC48A7.1a.1
C48A7.1b.1
C48A7.1c.1
Other_sequence (24)
Associated_feature (21)
Experimental_infoRNAi_resultWBRNAi00024850Inferred_automaticallyRNAi_primary
WBRNAi00090235Inferred_automaticallyRNAi_primary
WBRNAi00089917Inferred_automaticallyRNAi_primary
WBRNAi00064260Inferred_automaticallyRNAi_primary
WBRNAi00113903Inferred_automaticallyRNAi_primary
WBRNAi00090077Inferred_automaticallyRNAi_primary
WBRNAi00008534Inferred_automaticallyRNAi_primary
WBRNAi00042705Inferred_automaticallyRNAi_primary
WBRNAi00002264Inferred_automaticallyRNAi_primary
WBRNAi00089854Inferred_automaticallyRNAi_primary
Expr_pattern (16)
Drives_constructWBCnstr00000001
WBCnstr00002353
WBCnstr00004321
WBCnstr00006012
WBCnstr00006809
WBCnstr00010286
WBCnstr00037042
Construct_productWBCnstr00006719
WBCnstr00006720
WBCnstr00006809
WBCnstr00006817
WBCnstr00006818
WBCnstr00010286
WBCnstr00017063
WBCnstr00022477
WBCnstr00037042
Microarray_resultsSMD_C48A7.1
SMD_C48A7.1:2
175822_at
193238_s_at
A_12_P105438
A_12_P115380
Aff_C48A7.1
GPL13394_WBGene00001187
GPL13914_C48A7.1
GPL14144_C48A7.1b_4041-4100_0.827_64_B
GPL14144_C48A7.1b_4219-4278_0.818_70_C
GPL14144_C48A7.1b_4312-4371_0.856_40_A
GPL19516_CGZ0009595
GPL19516_CGZ0009596
GPL21109_C48A7.1a
GPL3518_CE28820
GPL8304_CE_WBGene00001187_A
GPL8304_CE_WBGene00001187_B
GPL8673_C48A7_1aP04615
GPL8673_C48A7_1aP05000
GPL8673_C48A7_1aP05251
GPL8673_C48A7_1bP05144
GPL8673_C48A7_1bP05223
GPL8673_C48A7_1bP05301
GPL9450_C48A7.1a
GPL9450_C48A7.1b
cea2.c.27062
cea2.d.01525
Expression_cluster (160)
SAGE_tag (22)
Interaction (126)
Anatomy_functionWBbtf0072
WBbtf0173
WBbtf0401
WBbtf0402
WBbtf0403
WBbtf0404
WBbtf0405
WBbtf0406
WBbtf0407
WBbtf0408
Map_infoMapIVPosition3.33453Error0.000859
Well_ordered
PositivePositive_cloneB0496
C48A7Author_evidenceLee RYN
Inferred_automaticallyFrom sequence, transcript, pseudogene data
NegativeNegative_cloneB0496Author_evidenceLee RYN
CG10
Mapping_dataMulti_point (18)
Pos_neg_data8296
8149
8150
8151
ReferenceWBPaper00000635
WBPaper00001709
WBPaper00001894
WBPaper00001920
WBPaper00002305
WBPaper00002487
WBPaper00002748
WBPaper00002824
WBPaper00002912
WBPaper00003038
WBPaper00003294
WBPaper00003300
WBPaper00003764
WBPaper00003765
WBPaper00004071
WBPaper00004194
WBPaper00004201
WBPaper00004215
WBPaper00004361
WBPaper00004438
WBPaper00004950
WBPaper00005321
WBPaper00005438
WBPaper00005547
WBPaper00005617
WBPaper00005654
WBPaper00005799
WBPaper00006052
WBPaper00006076
WBPaper00006103
WBPaper00006127
WBPaper00006193
WBPaper00006279
WBPaper00006284
WBPaper00006296
WBPaper00006402
WBPaper00010480
WBPaper00010894
WBPaper00010908
WBPaper00010992
WBPaper00011559
WBPaper00012745
WBPaper00014079
WBPaper00014714
WBPaper00014715
WBPaper00014768
WBPaper00014769
WBPaper00014865
WBPaper00015028
WBPaper00015071
WBPaper00015306
WBPaper00015308
WBPaper00015453
WBPaper00015578
WBPaper00016944
WBPaper00016990
WBPaper00017174
WBPaper00017175
WBPaper00017365
WBPaper00017417
WBPaper00017464
WBPaper00017502
WBPaper00018138
WBPaper00018300
WBPaper00018323
WBPaper00018605
WBPaper00018893
WBPaper00019253
WBPaper00021934
WBPaper00022012
WBPaper00022178
WBPaper00022228
WBPaper00022459
WBPaper00022642
WBPaper00022963
WBPaper00023206
WBPaper00023520
WBPaper00023583
WBPaper00023642
WBPaper00023793
WBPaper00024151
WBPaper00024250
WBPaper00024304
WBPaper00024420
WBPaper00024447
WBPaper00024516
WBPaper00024867
WBPaper00024990
WBPaper00025209
WBPaper00025492
WBPaper00025786
WBPaper00025822
WBPaper00025902
WBPaper00026249
WBPaper00026303
WBPaper00026306
WBPaper00026988
WBPaper00027020
WBPaper00027155
WBPaper00027225
WBPaper00027228
WBPaper00027304
WBPaper00027316
WBPaper00027333
WBPaper00027615
WBPaper00027624
WBPaper00027661
WBPaper00027704
WBPaper00027747
WBPaper00027995
WBPaper00028127
WBPaper00028187
WBPaper00028258
WBPaper00028850
WBPaper00028910
WBPaper00029013
WBPaper00029025
WBPaper00029029
WBPaper00030337
WBPaper00030977
WBPaper00031000
WBPaper00031105
WBPaper00031175
WBPaper00031213
WBPaper00031304
WBPaper00031871
WBPaper00031882
WBPaper00031915
WBPaper00031982
WBPaper00032811
WBPaper00033711
WBPaper00034182
WBPaper00035163
WBPaper00035538
WBPaper00035989
WBPaper00037371
WBPaper00037767
WBPaper00038258
WBPaper00038491
WBPaper00039177
WBPaper00039366
WBPaper00039865
WBPaper00040141
WBPaper00040144
WBPaper00040182
WBPaper00040284
WBPaper00040962
WBPaper00041723
WBPaper00042167
WBPaper00042396
WBPaper00042470
WBPaper00042830
WBPaper00043415
WBPaper00043908
WBPaper00044165
WBPaper00044263
WBPaper00045731
WBPaper00045905
WBPaper00045968
WBPaper00046973
WBPaper00048069
WBPaper00048388
WBPaper00048589
WBPaper00049114
WBPaper00049460
WBPaper00051165
WBPaper00051291
WBPaper00052599
WBPaper00052615
WBPaper00052687
WBPaper00052809
WBPaper00053608
WBPaper00055090
WBPaper00055286
WBPaper00055919
WBPaper00056333
WBPaper00056839
WBPaper00056919
WBPaper00057693
WBPaper00058130
WBPaper00058411
WBPaper00058924
WBPaper00060133
WBPaper00060487
WBPaper00060930
WBPaper00061194
WBPaper00061313
WBPaper00061401
WBPaper00061901
WBPaper00063470
WBPaper00063570
WBPaper00063832
WBPaper00063856
WBPaper00063950
WBPaper00064195
WBPaper00064235
WBPaper00064506
WBPaper00064809
WBPaper00065040
WBPaper00065198
WBPaper00065342
WBPaper00065588
WBPaper00065649
WBPaper00066029
Remarkthe cs phenotype of n2368 appears to be recessive.
We believe egl-19=pat-5=eat-12.
Data extracted from Williams & Waterston 1994
MethodGene