WormBase Tree Display for Gene: WBGene00001187
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| 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 | eat-12 | ||||||||
| pat-5 | |||||||||
| CELE_C48A7.1 | Accession_evidence | NDB | BX284604 | ||||||
| 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 (160) | |||||||||
| 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 (18) | ||||||||
| 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 |
