WormBase Tree Display for Gene: WBGene00003171
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| WBGene00003171 | SMap | S_parent | Sequence | ZK154 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | mec-7 | Person_evidence | WBPerson95 | |||||
| Sequence_name | ZK154.3 | ||||||||
| Molecular_name | ZK154.3 | ||||||||
| ZK154.3.1 | |||||||||
| CE15257 | |||||||||
| Other_name | CELE_ZK154.3 | Accession_evidence | NDB | BX284606 | |||||
| Public_name | mec-7 | ||||||||
| DB_info | Database | AceView | gene | XI394 | |||||
| WormQTL | gene | WBGene00003171 | |||||||
| WormFlux | gene | WBGene00003171 | |||||||
| NDB | locus_tag | CELE_ZK154.3 | |||||||
| Panther | gene | CAEEL|WormBase=WBGene00003171|UniProtKB=P12456 | |||||||
| family | PTHR11588 | ||||||||
| NCBI | gene | 181036 | |||||||
| RefSeq | protein | NM_076912.5 | |||||||
| SwissProt | UniProtAcc | P12456 | |||||||
| UniProt_GCRP | UniProtAcc | P12456 | |||||||
| OMIM | gene | 191130 | |||||||
| 602660 | |||||||||
| 602662 | |||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:31 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | mec | ||||||||
| Reference_allele | WBVar00143933 | ||||||||
| Allele (101) | |||||||||
| Legacy_information | e1343sd ts : touch insensitive lethargic at 25x; microtubule cells lack microtubules; e1343/+ variably touch insensitive at 25x; wildtype at 15x. ES2 ME3. NA > 30 (n434dm (dominant at all temperatures) e1506 (recessive at all temperatures) etc.). Most alleles incompletely dominant and ts. | ||||||||
| See also e1343, e1477, n434 | |||||||||
| [C.elegansII] e1343sd,ts : touch insensitive, lethargic at 25C; microtubule cells lack 15-protofilament microtubules; e1343/+ variably touch insensitive at 25C; wildtype at 15C. ES2 ME3. OA>30:n434dm (dominant at all temperatures), e1506 (recessive at all temperatures), e1527,u278 (missense, causes ectopic touch cell branching),u443 (deletion null), etc. Most alleles incompletely dominant and ts. Cloned: encodes beta-tubulin. Antibody stains strongly in touch cells, weakly in some others (FLP, PVD). 45 alleles sequenced. [Savage et al. 1989; Hamelin et al. 1992; NW; TU] | |||||||||
| Strain (15) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (35) | |||||||||
| Ortholog (51) | |||||||||
| Paralog (16) | |||||||||
| Structured_description | Concise_description | mec-7 encodes a beta-tubulin required for touch sensitivity along the body wall, and for normal levels of locomotor activity; it is strongly expressed in six touch receptor neurons, with weak expression in FLP, PVD, and BDU cells. | Curator_confirmed | WBPerson48 | |||||
| WBPerson567 | |||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Involved in cytoplasmic microtubule organization; positive regulation of multicellular organismal process; and response to mechanical stimulus. Located in neuron projection and neuronal cell body. Expressed in BDU and mechanosensory neurons. Used to study hypokalemic periodic paralysis. Human ortholog(s) of this gene implicated in Leber congenital amaurosis with early-onset deafness; brain disease (multiple); and congenital symmetric circumferential skin creases 1. Is an ortholog of human TUBB (tubulin beta class I); TUBB4A (tubulin beta 4A class IVa); and TUBB4B (tubulin beta 4B class IVb). | 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:14452 | Homo sapiens | Paper_evidence | WBPaper00002711 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 24 Aug 2018 00:00:00 | ||||||||
| Potential_model | DOID:0112242 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20778) | |||||
| DOID:0090136 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20778) | ||||||
| DOID:0112240 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20771) | ||||||
| DOID:0060798 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20774) | ||||||
| DOID:0090041 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20774) | ||||||
| Disease_relevance | C. elegans mec-4 and deg-1 genes encode proteins, called degenerins, that are similar to the subunits of the human amiloride-sensitive epithelial sodium-channels; death-inducing substitutions in the gain-of-function mutant deg-1, e1611 and u231, may hyperactivate the channels, resulting in increased or altered ion flow and/osmotic imbalance and consequent neuron death; similarities between the degenerin-induced deaths and the early pathology of of neurons in human dominant myotonias, excitotoxicity, and epilepsy suggest similar mechanisms; studies with the elegans mutations show that the abnormalities infolding of the plasma membrane whorls, cytoplasmic vacuoles, cell swelling, chromatin aggregates and nuclear invaginations; mitochondria and golgi are not dramatically affected until the final stages of cell death when organelles, and sometimes the cells lyse; pathology of degeneration is dependent on abnormal degenerin gene dosage. | Homo sapiens | Paper_evidence | WBPaper00002711 | |||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 13 Nov 2014 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000609 | ||||||||
| Molecular_info | Corresponding_CDS | ZK154.3 | |||||||
| Corresponding_transcript | ZK154.3.1 | ||||||||
| Other_sequence (45) | |||||||||
| Associated_feature | WBsf654161 | ||||||||
| WBsf654162 | |||||||||
| WBsf977521 | |||||||||
| WBsf977522 | |||||||||
| WBsf977523 | |||||||||
| WBsf977524 | |||||||||
| WBsf1005948 | |||||||||
| WBsf1023307 | |||||||||
| WBsf237608 | |||||||||
| Experimental_info | RNAi_result (18) | ||||||||
| Expr_pattern | Expr266 | ||||||||
| Expr1504 | |||||||||
| Expr1524 | |||||||||
| Expr1577 | |||||||||
| Expr11808 | |||||||||
| Expr1015364 | |||||||||
| Expr1031504 | |||||||||
| Expr1162675 | |||||||||
| Expr2013501 | |||||||||
| Expr2031735 | |||||||||
| Drives_construct (154) | |||||||||
| Construct_product (4) | |||||||||
| Antibody | WBAntibody00000087 | ||||||||
| WBAntibody00001541 | |||||||||
| WBAntibody00001774 | |||||||||
| WBAntibody00001775 | |||||||||
| Microarray_results (18) | |||||||||
| Expression_cluster (243) | |||||||||
| Interaction (229) | |||||||||
| WBProcess | WBbiopr:00000002 | ||||||||
| Map_info | Map | X | Position | -1.27615 | Error | 0.00769 | |||
| Well_ordered | |||||||||
| Positive | Inside_rearr | raDf7 | |||||||
| Positive_clone | NW#B4 | ||||||||
| ZK154 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||||
| Mapping_data | 2_point | 167 | |||||||
| 672 | |||||||||
| 1828 | |||||||||
| Multi_point (15) | |||||||||
| Pos_neg_data | 7293 | ||||||||
| 7294 | |||||||||
| 7295 | |||||||||
| 529 | |||||||||
| 3176 | |||||||||
| 9433 | |||||||||
| Reference (243) | |||||||||
| Method | Gene |
