| WBGene00001187 | SMap | S_parent | Sequence | CHROMOSOME_IV |
|---|
| Identity | Version | 2 |
| | Name | CGC_name | egl-19 | Person_evidence | WBPerson268 |
| | | Sequence_name | C48A7.1 |
| | | Molecular_name | C48A7.1a |
| | | | C48A7.1a.1 |
| | | | CE28820 |
| | | | C48A7.1b |
| | | | CE31165 |
| | | | C48A7.1c |
| | | | CE49477 |
| | | | C48A7.1b.1 |
| | | | C48A7.1c.1 |
| | | Other_name (3) |
| | | Public_name | egl-19 |
| | DB_info | Database | AceView | gene | 4I183 |
| | | | WormQTL | gene | WBGene00001187 |
| | | | WormFlux | gene | WBGene00001187 |
| | | | OMIM | disease | 310200 |
| | | | | gene | 114205 |
| | | | | | 114208 |
| | | | | | 300110 |
| | | | NDB | locus_tag | CELE_C48A7.1 |
| | | | Panther | gene | CAEEL|WormBase=WBGene00001187|UniProtKB=Q8MQA1 |
| | | | | family | PTHR45628 |
| | | | NCBI | gene | 177513 |
| | | | RefSeq | protein | NM_171379.6 |
| | | | | | NM_001380322.1 |
| | | | | | NM_001027908.6 |
| | | | TrEMBL | UniProtAcc | Q8MQA1 |
| | | | | | W6RY76 |
| | | | | | G5EG02 |
| | | | UniProt_GCRP | UniProtAcc | Q8MQA1 |
| | Species | Caenorhabditis elegans |
| | History | Version_change | 1 | 07 Apr 2004 11:29:23 | WBPerson1971 | Event | Imported | Initial conversion from geneace |
| | | | 2 | 02 Mar 2018 10:40:21 | WBPerson4025 | Event | Split_into | WBGene00303046 |
| | | Split_into | WBGene00303046 |
| | Status | Live |
| Gene_info (13) |
| Disease_info | Experimental_model | DOID:11723 | Homo sapiens | Paper_evidence | WBPaper00004950 |
| | | | | Accession_evidence | OMIM | 310200 |
| | | | | Curator_confirmed | WBPerson324 |
| | | | | Date_last_updated | 22 May 2017 00:00:00 |
| | | DOID:0060173 | Homo sapiens | Paper_evidence | WBPaper00061194 |
| | | | | Curator_confirmed | WBPerson324 |
| | | | | Date_last_updated | 23 Mar 2021 00:00:00 |
| | Potential_model (11) |
| | 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; 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 sapiens | Accession_evidence | OMIM | 310200 |
| | | | | Curator_confirmed | WBPerson324 |
| Models_disease_asserted | WBDOannot00000289 |
| | WBDOannot00000426 |
| | WBDOannot00000901 |
| | WBDOannot00000902 |
| Molecular_info | Corresponding_CDS | C48A7.1a |
| | | C48A7.1b |
| | | C48A7.1c |
| | Corresponding_CDS_history | C48A7.1d:wp264 |
| | Corresponding_transcript | C48A7.1a.1 |
| | | C48A7.1b.1 |
| | | C48A7.1c.1 |
| | Other_sequence (24) |
| | Associated_feature (21) |
| Experimental_info | RNAi_result | WBRNAi00024850 | Inferred_automatically | RNAi_primary |
| | | WBRNAi00090235 | Inferred_automatically | RNAi_primary |
| | | WBRNAi00089917 | Inferred_automatically | RNAi_primary |
| | | WBRNAi00064260 | Inferred_automatically | RNAi_primary |
| | | WBRNAi00113903 | Inferred_automatically | RNAi_primary |
| | | WBRNAi00090077 | Inferred_automatically | RNAi_primary |
| | | WBRNAi00008534 | Inferred_automatically | RNAi_primary |
| | | WBRNAi00042705 | Inferred_automatically | RNAi_primary |
| | | WBRNAi00002264 | Inferred_automatically | RNAi_primary |
| | | WBRNAi00089854 | Inferred_automatically | RNAi_primary |
| | Expr_pattern (16) |
| | Drives_construct | WBCnstr00000001 |
| | | WBCnstr00002353 |
| | | WBCnstr00004321 |
| | | WBCnstr00006012 |
| | | WBCnstr00006809 |
| | | WBCnstr00010286 |
| | | WBCnstr00037042 |
| | Construct_product | WBCnstr00006719 |
| | | WBCnstr00006720 |
| | | WBCnstr00006809 |
| | | WBCnstr00006817 |
| | | WBCnstr00006818 |
| | | WBCnstr00010286 |
| | | WBCnstr00017063 |
| | | WBCnstr00022477 |
| | | WBCnstr00037042 |
| | Microarray_results (28) |
| | Expression_cluster | WBPaper00029359_1217 |
| | | WBPaper00029359_1280 |
| | | WBPaper00029359_1444 |
| | | WBPaper00029359_1504 |
| | | WBPaper00029359_1604 |
| | | WBPaper00031011:calmodulin_binding_protein |
| | | WBPaper00032425:up_in_zfp-1 |
| | | WBPaper00033065:cyc-1(RNAi)_upregulated |
| | | WBPaper00036375:enriched_in_PVD_OLL |
| | | WBPaper00037950:A-class-motor-neurons_L1-larva_expressed |
| | | WBPaper00037950:A-class-motor-neurons_L2-larva_expressed |
| | | WBPaper00037950:all-neurons_L1-larva_expressed |
| | | WBPaper00037950:all-neurons_L2-larva_expressed |
| | | WBPaper00037950:AVA-neuron_L1-larva_expressed |
| | | WBPaper00037950:bodywall-muscle_L2-larva_expressed |
| | | WBPaper00037950:CEP-sheath-cells_Day1-adult_expressed |
| | | WBPaper00038438:D.coniospora_12hr_downregulated_RNAseq |
| | | WBPaper00038438:E.faecalis_24hr_upregulated_RNAseq |
| | | WBPaper00038438:E.faecalis_24hr_upregulated_TilingArray |
| | | WBPaper00038438:P.lumniescens_24hr_upregulated_TilingArray |
| | | WBPaper00042561:smgl-1(RNAi)_upregulated |
| | | WBPaper00044736:flat_dev_expression |
| | | WBPaper00044786:emr-1(RNAi);lem-2(tm1582)_upregulated |
| | | WBPaper00045521:Spermatogenic |
| | | WBPaper00046497:B.thuringiensis_0.1mix_downregulated_12h |
| | | WBPaper00046497:B.thuringiensis_0.5mix_downregulated_12h |
| | | WBPaper00047131:daf-2(e1370)_upregulated_hel-1(gk148684)-background |
| | | WBPaper00048923:Aging_regulated |
| | | WBPaper00048988:neuron_enriched |
| | | WBPaper00048988:neuron_expressed |
| | | WBPaper00049545:cco-1(RNAi)_upregulated |
| | | WBPaper00049545:jmjd-3.1(+)_upregulated |
| | | WBPaper00049545:rgef-1p-jmjd-1.2(+)_upregulated |
| | | WBPaper00049545:sur-5p-jmjd-1.2(+)_upregulated |
| | | WBPaper00049942:HeatShock_upregulated_hsf-1(RNAi) |
| | | WBPaper00049942:hsf-1(RNAi)_upregulated |
| | | WBPaper00050163:chd-3(eh4);let-418(RNAi)_upregulated_24-cell-embryo |
| | | WBPaper00050163:chd-3(eh4);let-418(RNAi)_upregulated_100-cell-embryo |
| | | WBPaper00050412:cco-1(RNAi)_upregulated_N2 |
| | | WBPaper00050488:adult_vs_dauer_regulated_N2_20C |
| | | WBPaper00050726:OsmoticStress_regulated_Food |
| | | WBPaper00050859:upregulated_glh-1(gk100)_vs_control_day1-adult |
| | | WBPaper00050859:upregulated_P-granule(-)GFP(+)_vs_control_day2-adult |
| | | WBPaper00050859:upregulated_P-granule(-)GFP(-)_vs_control_day1-adult |
| | | WBPaper00050859:upregulated_P-granule(-)GFP(-)_vs_control_day2-adult |
| | | WBPaper00050859:upregulated_pgl-1(ct131)_vs_control_day1-adult |
| | | WBPaper00050990:arcade_intestinal-valve_expressed |
| | | WBPaper00050990:body-muscle_expressed |
| | | WBPaper00050990:GABAergic-neuron_expressed |
| | | WBPaper00050990:hypodermis_expressed |
| | | WBPaper00050990:intestine_expressed |
| | | WBPaper00050990:NMDA-neuron_expressed |
| | | WBPaper00050990:pharynx_expressed |
| | | WBPaper00050990:seam_expressed |
| | | WBPaper00052884:emb-4(hc60)_upregulated |
| | | WBPaper00053184:sma-2(rax5)_upregulated |
| | | WBPaper00053184:sma-4(rax3)_upregulated |
| | | WBPaper00053295:lin-22(icb38)_upregulated |
| | | WBPaper00053295:lin-22(ot269)_upregulated |
| | | WBPaper00053302:stavudine_24h_regulated |
| | | WBPaper00053302:zidovudine_72h_regulated |
| | | WBPaper00053321:PGCs_depleted_NuGen |
| | | WBPaper00053599:oocyte_vs_mitosis_downregulated |
| | | WBPaper00053810:daf-2(e1370)_downregulated |
| | | WBPaper00054758:alg-1(gk204)_upregulated |
| | | WBPaper00055103:thoc-5(wy822)_upregulated |
| | | WBPaper00055334:DLC-1_interacting |
| | | WBPaper00055354:eat-2(ad1116)_upregulated |
| | | WBPaper00055354:Rapamycin-Rifampicin-Psora_upregulated |
| | | WBPaper00055482:Tunicamycin_downregulated |
| | | WBPaper00055565:AVK_enriched |
| | | WBPaper00055626:pry-1(mu38)_downregulated |
| | | WBPaper00056034:pals-22(jy3)_upregulated |
| | | WBPaper00056090:E.faecalis_upregulated_hpx-2(dg047) |
| | | WBPaper00056169:rrf-3(pk1426)_upregulated_embryo |
| | | WBPaper00056275:P.aeruginosa_downregulated |
| | | WBPaper00056275:P.aeruginosa_downregulated_atf-7(qd22qd130)_dependent |
| | | WBPaper00056284:ints-11(RNAi)_downregulated |
| | | WBPaper00056443:sek-1(km4)_upregulated |
| | | WBPaper00056471:aak-1(tm1944);aak-2(ok524)_upregulated |
| | | WBPaper00056619:CEPsh_enriched |
| | | WBPaper00056826:hmc_biased |
| | | WBPaper00056868:P.aeruginosa_upregulated_smallRNA |
| | | WBPaper00057154:HeatShock_downregulated_miRNA-target |
| | | WBPaper00057154:HeatShock_upregulated_mRNA |
| | | WBPaper00057288:iff-1(RNAi)_upregulated_transcript |
| | | WBPaper00058598:mex-1(or286)_upregulated |
| | | WBPaper00058598:mex-3(eu149)_upregulated |
| | | WBPaper00058598:sin-3(tm1276)_downregulated |
| | | WBPaper00058598:spn-4(tm291)_upregulated |
| | | WBPaper00058969:RIS_enriched |
| | | WBPaper00059027:neuron-synapses_depleted |
| | | WBPaper00059421:daf-3(mgDf90)_downregulated |
| | | WBPaper00059471:EGL-43_interacting |
| | | WBPaper00059664:srbc-48(ac23)_upregulated |
| | | WBPaper00059763:neuron_expressed |
| | | WBPaper00060014:set-2(tm1630)_downregulated |
| | | WBPaper00060459:bcat-1(RNAi)_upregulated |
| | | WBPaper00060661:sensory-neuron_enriched |
| | | WBPaper00060683:hlh-11(ko1)_upregulated |
| | | WBPaper00060811:L1_vs_adult_upregulated_neural |
| | | WBPaper00060871:M.humicola-infection_12h_regulated |
| | | WBPaper00061203:let-418(n3536)_upregulated |
| | | WBPaper00061203:sin-3(tm1276)_upregulated |
| | | WBPaper00061203:spr-1(ok2144)_upregulated |
| | | WBPaper00061210:huIs179_upregulated |
| | | WBPaper00061340:pm8 |
| | | WBPaper00061479:hda-1(ne4752)_upregulated |
| | | WBPaper00061527:kin-29_2839-unc-9_3883 |
| | | WBPaper00061527:sol-1-jnk-1_18695 |
| | | WBPaper00061995:mter-4(syb3662syb3403)_downregulated |
| | | WBPaper00062103:neuron_enriched |
| | | WBPaper00062156:jmjd-5(zr1234)_downregulated_germline |
| | | WBPaper00062159:hda-2(ok1479)_upregulated |
| | | WBPaper00062325:muscle_enriched_coding-RNA |
| | | WBPaper00064071:NHR-49_interacting |
| | | WBPaper00064088:Day-1-adult_vs_L4_downregulated_daf-16(mu86);glp-1(e2141) |
| | | WBPaper00064088:Day-1-adult_vs_L4_downregulated_fem-3(q20) |
| | | WBPaper00064088:Day-3-adult_vs_L4_downregulated_fem-3(q20) |
| | | WBPaper00064156:lbp-3(overexpress)_upregulated |
| | | WBPaper00064306:Agaro-oligosaccharides_upregulated |
| | | WBPaper00064315:mes-4(bn73)_upregulated_EGCs |
| | | WBPaper00064716:paraquat_downregulated |
| | | WBPaper00064721:fasn-1(g14)_downregulated_starved |
| | | WBPaper00064939:vit-5(RNAi)_upregulated |
| | | WBPaper00065096:25C_vs_20C_downregulated |
| | | WBPaper00065096:Day10_vs_Day1_downregulated |
| | | WBPaper00065120:body-muscle-transcriptome |
| | | WBPaper00065158:AFD_enriched |
| | | WBPaper00065225:nhr-42(tm1375)_upregulated_S.aureus-infected |
| | | WBPaper00065581:hpk-1(pk1393)_upregulated |
| | | WBPaper00065835:Day5_vs_Day1_downregulated |
| | | WBPaper00065975:P-body_vs_WholeAnimal_depleted |
| | | WBPaper00065993:glp-1(e2141)_upregulated |
| | | WBPaper00066110:tetraploid_vs_diploid_upregulated |
| | | WBPaper00066146:germline-inx-14(RNAi)_upregulated_PA14 |
| | | cgc4489_group_20 |
| | | WBPaper00005124:estrogen_10-5M_regulated |
| | | WBPaper00024671:AFD_AWB_vs_unsorted_upregulated |
| | | WBPaper00025032:cluster_97 |
| | | WBPaper00025141:unc-4::GFP_Expressed_Genes |
| | | WBPaper00026929:sir-2.1_overexpression_regulated |
| | | WBPaper00030839:Larval_Pan_Neuronal |
| | | WBPaper00031003:hlh_1_enriched |
| | | WBPaper00031832:slr-2_regulated |
| | | WBPaper00035084:L1_enriched_AIN-2_IP |
| | | WBPaper00040210:Chlorpyrifos_Diazinon_24C_regulated |
| | | WBPaper00040603:tdp-1(lf)_down_vs_N2_FC_1.2 |
| | | WBPaper00040963:Q100_down |
| | | WBPaper00040963:Q200_down |
| | | WBPaper00041939:control_vs_UVC-exposed_51h |
| | | WBPaper00041939:EtBr-exposed_vs_UVC-exposed_48h |
| | | WBPaper00041939:EtBr-exposed_vs_UVC-exposed_51h |
| | | WBPaper00042548:miRISC_enriched |
| | | WBPaper00045294:0.1uM_TBBP_downregulated |
| | | WBPaper00045294:50uM_DBAA_downregulated |
| | | WBPaper00045673:colistin_upregulated |
| | | WBPaper00047070:xpa-1_UV_downregulated |
| | | WBPaper00057098:SiO2-nanoparticles_upregulated |
| | | [cgc6390]:Cluster_B |
| | SAGE_tag (22) |
| | Interaction (126) |
| | Anatomy_function | WBbtf0072 |
| | | WBbtf0173 |
| | | WBbtf0401 |
| | | WBbtf0402 |
| | | WBbtf0403 |
| | | WBbtf0404 |
| | | WBbtf0405 |
| | | WBbtf0406 |
| | | WBbtf0407 |
| | | WBbtf0408 |
| Map_info | Map | IV | Position | 3.33453 | Error | 0.000859 |
| | Well_ordered |
| | Positive | Positive_clone | B0496 |
| | | | C48A7 | Author_evidence | Lee RYN |
| | | | | Inferred_automatically | From sequence, transcript, pseudogene data |
| | Negative | Negative_clone | B0496 | Author_evidence | Lee RYN |
| | | | CG10 |
| | Mapping_data | Multi_point | 624 |
| | | | 1922 |
| | | | 1924 |
| | | | 1926 |
| | | | 1927 |
| | | | 1928 |
| | | | 1929 |
| | | | 2400 |
| | | | 2464 |
| | | | 2465 |
| | | | 3032 |
| | | | 3033 |
| | | | 3018 |
| | | | 3390 |
| | | | 3619 |
| | | | 4912 |
| | | | 4930 |
| | | | 5640 |
| | | Pos_neg_data | 8296 |
| | | | 8149 |
| | | | 8150 |
| | | | 8151 |
| Reference (204) |
| Remark | the cs phenotype of n2368 appears to be recessive. |
| | We believe egl-19=pat-5=eat-12. |
| | Data extracted from Williams & Waterston 1994 |
| Method | Gene |
