WormBase Tree Display for Gene: WBGene00014177
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| WBGene00014177 | SMap | S_parent | Sequence | ZK1010 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | frg-1 | Person_evidence | WBPerson9558 | |||||
| Sequence_name | ZK1010.3 | ||||||||
| Molecular_name | ZK1010.3 | ||||||||
| ZK1010.3.1 | |||||||||
| CE37862 | |||||||||
| Other_name | CELE_ZK1010.3 | Accession_evidence | NDB | BX284603 | |||||
| Public_name | frg-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 26 May 2004 16:54:55 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of WS125 | ||
| 2 | 07 May 2009 08:50:11 | WBPerson9133 | Name_change | CGC_name | frg-1 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | frg | ||||||||
| Allele (17) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (19) | |||||||||
| Ortholog (37) | |||||||||
| Structured_description | Concise_description | frg-1 encodes the C. elegans ortholog of vertebrate facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1); FRG-1 binds F-actin in vitro and, as a multimer, exhibits actin-bundling activity; FRG-1 is expressed throughout the life cycle; in embryos, FRG-1 localizes to nucleoli and diffusely in the cytoplasm; in larvae and adults, FRG-1 also localizes to dense bodies in body wall muscle, specifically to the distal region of the dense body where actin filaments attach; FRG-1 localization to the distal portion of dense bodies requires ATN-1/alpha-actinin activity; overexpression of FRG-1 under the control of its own promoter disrupts adult ventral body wall muscle integrity. | Paper_evidence | WBPaper00036018 | |||||
| Curator_confirmed | WBPerson1843 | ||||||||
| Date_last_updated | 11 Mar 2010 00:00:00 | ||||||||
| Automated_description | Enables actin filament binding activity and protein homodimerization activity. Involved in actin filament bundle assembly. Located in nucleolus and striated muscle dense body. Used to study facioscapulohumeral muscular dystrophy. Is an ortholog of human FRG1 (FSHD region gene 1). | 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:11727 | Homo sapiens | Paper_evidence | WBPaper00036018 | ||||
| Accession_evidence | OMIM | 158900 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 25 Feb 2013 00:00:00 | ||||||||
| Disease_relevance | Changes in the human FRG1 gene have been implicated in facioscapulohumeral muscular dystrophy (FSHD), an autosomal dominant myopathy typically characterized by progressive atrophy of muscles in the face, upper arms and shoulder girdle, with progression to the abdominal, pelvic girdle and foot extensor muscles in more severe cases; though the precise function of the FRG1 gene unknown, it has been characterized as a nuclear protein implicated in RNA biogenesis and has been associated with development of the vertebrate musculature and vasculature; studies in the C. elegans genetic model, from in vitro F-actin-bundling assays, indicate that both human FRG1 and elegans FRG-1 are actin-bundling proteins, and in elegans FRG-1 is both nuclear and cytoplasmic throughout development, appearing to concentrate in the nucleoli and dense bodies of body-wall muscle cells; when elegans FRG-1 is overexpressed, both the cytoplasmic and nuclear distributions are affected and ventral body wall muscle organization is disrupted; these studies indicate that FRG-1 is a multifunctional protein residing in distinct subcellular niches, primarily the nucleolus and the dense body, a plasma-membrane-bound muscle adhesion structure that attaches to the actin cytoskeleton; this data, along with studies from Xenopus, and mouse, support a model whereby increases in FRG1 in the muscle and associated tissues, contribute to FSHD pathology, potentially mediated by changes in the subcellular localization of FRG1. | Homo sapiens | Paper_evidence | WBPaper00036018 | |||||
| Accession_evidence | OMIM | 158900 | |||||||
| 601278 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 25 Feb 2013 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00000105 | ||||||||
| Molecular_info | Corresponding_CDS | ZK1010.3 | |||||||
| Corresponding_CDS_history | ZK1010.3:wp136 | ||||||||
| Corresponding_transcript | ZK1010.3.1 | ||||||||
| Other_sequence (51) | |||||||||
| Associated_feature | WBsf645682 | ||||||||
| WBsf659672 | |||||||||
| WBsf659673 | |||||||||
| WBsf994774 | |||||||||
| WBsf994775 | |||||||||
| WBsf994776 | |||||||||
| WBsf1016290 | |||||||||
| WBsf1016291 | |||||||||
| WBsf1016292 | |||||||||
| WBsf225954 | |||||||||
| Experimental_info | RNAi_result (37) | ||||||||
| Expr_pattern | Expr9003 | ||||||||
| Expr1026333 | |||||||||
| Expr1036350 | |||||||||
| Expr1162465 | |||||||||
| Expr2011878 | |||||||||
| Expr2030116 | |||||||||
| Antibody | WBAntibody00002120 | ||||||||
| Microarray_results (24) | |||||||||
| Expression_cluster (118) | |||||||||
| Interaction (17) | |||||||||
| Map_info | Map | III | Position | 20.6995 | Error | 0.003872 | |||
| Positive | Positive_clone | ZK1010 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00036018 | ||||||||
| WBPaper00038491 | |||||||||
| WBPaper00040494 | |||||||||
| WBPaper00041122 | |||||||||
| WBPaper00046849 | |||||||||
| WBPaper00055090 | |||||||||
| Remark | 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 | |||||||
| Method | Gene |
