WormBase Tree Display for Gene: WBGene00001196
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| WBGene00001196 | SMap | S_parent | Sequence | CHROMOSOME_I | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | egl-30 | Person_evidence | WBPerson268 | |||||
| Sequence_name | M01D7.7 | ||||||||
| Molecular_name | M01D7.7a | ||||||||
| M01D7.7a.1 | |||||||||
| CE12272 | |||||||||
| M01D7.7b | |||||||||
| CE30556 | |||||||||
| M01D7.7c | |||||||||
| CE49743 | |||||||||
| M01D7.7b.1 | |||||||||
| M01D7.7c.1 | |||||||||
| Other_name | gqa-1 | ||||||||
| CELE_M01D7.7 | Accession_evidence | NDB | BX284601 | ||||||
| Public_name | egl-30 | ||||||||
| DB_info | Database | AceView | gene | 1C313 | |||||
| WormQTL | gene | WBGene00001196 | |||||||
| WormFlux | gene | WBGene00001196 | |||||||
| NDB | locus_tag | CELE_M01D7.7 | |||||||
| Panther | gene | CAEEL|WormBase=WBGene00001196|UniProtKB=G5EGU1 | |||||||
| family | PTHR10218 | ||||||||
| NCBI | gene | 171751 | |||||||
| RefSeq | protein | NM_001392988.1 | |||||||
| NM_001306428.3 | |||||||||
| NM_170806.6 | |||||||||
| TrEMBL | UniProtAcc | Q8T3G5 | |||||||
| G5EGU1 | |||||||||
| X5LQ30 | |||||||||
| UniProt_GCRP | UniProtAcc | G5EGU1 | |||||||
| OMIM | gene | 139313 | |||||||
| 600998 | |||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:23 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| 2 | 02 Mar 2018 11:09:16 | WBPerson4025 | Event | Split_into | WBGene00303070 | ||||
| Split_into | WBGene00303070 | ||||||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | egl | ||||||||
| Reference_allele | WBVar00089674 | ||||||||
| Allele (205) | |||||||||
| Possibly_affected_by | WBVar02157911 | ||||||||
| WBVar02157912 | |||||||||
| Legacy_information | n686sd : moderate bloating Type E; uncoordinated slow phenotype. ES3 (adult) ES2 (other stages). NA2 (n715sd : uncoordinated paralysed phenotype n715/+ has Type C bloating). | ||||||||
| [Leon Avery] The strongest gf alleles are homozygous lethal. Homozygotes hatch, but are paralyzed, with no or feeble contractions of body wall, pharyngeal, and defecation muscles. However, homozygotes move normally during embryonic elongation. | |||||||||
| See also ad803, ad805, ad806, ad809, ad810, ad813, ad814, n686, n715, n1189, n1190, n1191 | |||||||||
| [Reiner D]] Mac-d (Muscle ACtivation-Defective) | |||||||||
| [Brundage L, Avery L] ad810 homozygotes are essentially lethal, virtually paralyzed at hatching, with weak and sporadic pharyngeal pumping, hence starved appearance, extremely slow growth, larval arrest. Occasional hermaphrodites develop to semi-fertile adulthood. Semidominant suppressor of eat-11. ad810 is W212amb. Sequence alterations identified in nine other alleles. + | |||||||||
| [C.elegansII] n686sd : moderate bloating, variable drug response; Unc slow, very sluggish phenotype, Sma, Gro. Muscle activation defective (flaccid, long).ES3 (adult), ES2 (other stages). ME0 (slight morpho-Mab). OA>10(dominant): n715sd (uncoordinated paralysed phenotype, n715/+ has Type C bloating), ad805, ad803, ad806, ad809, ad810 (recessive lethal, flaccid arrest at hatching), ad813, ad814. The strongest gf alleles are homozygous lethal. Homozygotes hatch, but are paralyzed, with no or feeble contractions of body wall, pharyngeal, and defecation muscles. However, homozygotes move normally during embryonic elongation. Many alleles are dominant suppressors of eat-11. Also intragenic revertants: n715n1190, n715n1189 (candidate lf: weak Egl, possibly hyperactive), pk45tci. Null phenotype uncertain. Cloned: corresponds to gqa-1, alpha subunit of G protein q (80% identity to mammalian Gqalpha). [Trent et al. 1983; Park and Horvitz 1986; DA; MT; PS] | |||||||||
| Complementation_data | [Brundage L, Avery L] corresponds to gqa-1 | ||||||||
| Strain (17) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (57) | |||||||||
| Contained_in_operon | CEOP1992 | ||||||||
| Ortholog (45) | |||||||||
| Paralog (21) | |||||||||
| Structured_description | Concise_description | egl-30 encodes an ortholog of the heterotrimeric G protein alpha subunit Gq (Gq/G11 class) that affects viability, locomotion, egg laying, synaptic transmission, and pharyngeal pumping; it genetically interacts with the goa-1 pathway, and is probably expressed ubiquitously, with highest expression in excitable cells. | Paper_evidence | WBPaper00005157 | |||||
| Curator_confirmed | WBPerson567 | ||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Predicted to enable G protein-coupled receptor binding activity; G-protein beta/gamma-subunit complex binding activity; and GTPase activity. Involved in several processes, including cellular response to dopamine; regulation of localization; and regulation of locomotion. Located in axon; cell cortex; and neuronal cell body. Expressed in several structures, including vulval cell. Human ortholog(s) of this gene implicated in several diseases, including Sturge-Weber syndrome; autosomal dominant hypocalcemia 2; and familial hypocalciuric hypercalcemia 2. Is an ortholog of human GNA11 (G protein subunit alpha 11). | 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 | Potential_model | DOID:6000 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:4390) | ||||
| DOID:0090108 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:4379) | ||||||
| DOID:3908 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:4390) | ||||||
| DOID:0060701 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:4379) | ||||||
| DOID:0111529 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:4390) | ||||||
| DOID:0111563 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:4390) | ||||||
| Molecular_info | Corresponding_CDS | M01D7.7a | |||||||
| M01D7.7b | |||||||||
| M01D7.7c | |||||||||
| Corresponding_CDS_history | M01D7.7d:wp264 | ||||||||
| Corresponding_transcript | M01D7.7a.1 | ||||||||
| M01D7.7b.1 | |||||||||
| M01D7.7c.1 | |||||||||
| Other_sequence (128) | |||||||||
| Associated_feature (32) | |||||||||
| Experimental_info | RNAi_result (38) | ||||||||
| Expr_pattern (11) | |||||||||
| Drives_construct | WBCnstr00004649 | ||||||||
| WBCnstr00004683 | |||||||||
| WBCnstr00006250 | |||||||||
| WBCnstr00006251 | |||||||||
| WBCnstr00010147 | |||||||||
| WBCnstr00018287 | |||||||||
| Construct_product (20) | |||||||||
| Antibody | WBAntibody00000706 | ||||||||
| Microarray_results (30) | |||||||||
| Expression_cluster (164) | |||||||||
| Interaction (163) | |||||||||
| Anatomy_function | WBbtf0170 | ||||||||
| WBbtf0171 | |||||||||
| WBbtf0172 | |||||||||
| WBProcess | WBbiopr:00000039 | ||||||||
| Map_info (4) | |||||||||
| Reference (252) | |||||||||
| Remark | Interacting_genes '[Leon Avery] eat-11: egl-30(gf) mutations are semi-dominant or dominant suppressors of eat-11 (all phenotypes). | ||||||||
| Data extracted from Brundage et al. (1996) | |||||||||
| Method | Gene |
