WormBase Tree Display for Gene: WBGene00006803
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| WBGene00006803 | Evidence | CGC_data_submission | |||||||
|---|---|---|---|---|---|---|---|---|---|
| SMap | S_parent | Sequence | K11C4 | ||||||
| Identity | Version | 1 | |||||||
| Name | CGC_name | unc-70 | Person_evidence | WBPerson261 | |||||
| Sequence_name | K11C4.3 | ||||||||
| Molecular_name (12) | |||||||||
| Other_name | bgs-1 | ||||||||
| CELE_K11C4.3 | Accession_evidence | NDB | BX284605 | ||||||
| Public_name | unc-70 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:43 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | unc | ||||||||
| Reference_allele | WBVar00143275 | ||||||||
| Allele (168) | |||||||||
| Possibly_affected_by | WBVar02152909 | ||||||||
| Legacy_information | e524ts sd : irregular loopy movement sometimes coiling active grows well. ES2 ME2. NA2 (n493sd : curly uncoordinated non-ts). Revertants e.g. n493n1170ird have recessive lethal phenotype (probable null phenotype). NA (ird) 8. | ||||||||
| See also n493, n1170, n1171, n1172, n1173, n1174, n1175, n1176, s115, s1406, s1502, s1532, s1557, s1639 | |||||||||
| [C.elegansII] e524ts,sd : irregular loopy movement, sometimes coiling, active; grows well.e524/+ weak coiler at 25C. ES2 ME2. OA1 (sd): n493sd (curly, uncoordinated, non-ts). Revertants e.g. n493n1170ird have recessive lethal phenotype, early L1 arrest (probable null phenotype). OA7 (ird) 8. Also lethal alleles, OA>5: s115, s1406,s1639 etc. (all early/mid larval lethals, dominant weak Unc). Dominance of many alleles strongly enhanced by smg background. [Park and Horvitz 1986; Johnsen and Baillie 1991; TR] | |||||||||
| Strain (13) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (32) | |||||||||
| Ortholog (38) | |||||||||
| Paralog (13) | |||||||||
| Structured_description | Concise_description | unc-70 encodes two isoforms of a beta-spectrin ortholog required for normal body curvature and shape, normal movement, and correct localization of the alpha-spectrin SPC-1; the predominant UNC-70 isoform is expressed in all embryonic cells except the intestine, at the plasma membrane at sites of intercellular contact; UNC-70 becomes largely restricted to muscles and neurons from hatching to adulthood, with expression in adult spermetheca and hypodermis as well; conversely, the minor isoform is predominantly expressed in gut, and is also apposed to intercellular membrane junctions in embryos; sma-1 mutations (which impair the one beta-H-spectrin ortholog in C. elegans) enhance the unc-70 phenotype; UNC-70 is dispensable for viability (under undemanding laboratory culture conditions). | Paper_evidence | WBPaper00000914 | |||||
| WBPaper00004127 | |||||||||
| WBPaper00004128 | |||||||||
| WBPaper00004346 | |||||||||
| WBPaper00005321 | |||||||||
| Curator_confirmed | WBPerson567 | ||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Predicted to enable actin filament binding activity. Involved in several processes, including dendrite development; embryonic body morphogenesis; and muscle cell cellular homeostasis. Located in cell junction; contractile fiber; and lateral plasma membrane. Expressed in hermaphrodite gonad and vulval cell. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 14; hereditary spherocytosis type 2; and spinocerebellar ataxia type 5. Is an ortholog of human SPTB (spectrin beta, erythrocytic). | 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:0050882 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:11276) | ||||
| DOID:0110917 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:11274) | ||||||
| DOID:0080058 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:11276) | ||||||
| DOID:12971 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:11274) | ||||||
| Molecular_info | Corresponding_CDS | K11C4.3a | |||||||
| K11C4.3b | |||||||||
| K11C4.3c | |||||||||
| K11C4.3d | |||||||||
| Corresponding_transcript | K11C4.3a.1 | ||||||||
| K11C4.3b.1 | |||||||||
| K11C4.3c.1 | |||||||||
| K11C4.3d.1 | |||||||||
| Other_sequence (39) | |||||||||
| Associated_feature (16) | |||||||||
| Experimental_info (10) | |||||||||
| Map_info | Map | V | Position | 0.418538 | Error | 0.021789 | |||
| Well_ordered | |||||||||
| Positive | Inside_rearr | nDf32 | |||||||
| nDf33 | |||||||||
| Positive_clone | K11C4 | Inferred_automatically | From sequence, transcript, pseudogene data | ||||||
| Mapping_data | 2_point (2) | ||||||||
| Multi_point | 653 | ||||||||
| 657 | |||||||||
| 1147 | |||||||||
| 3427 | |||||||||
| 3863 | |||||||||
| 3866 | |||||||||
| 3867 | |||||||||
| 4376 | |||||||||
| 4556 | |||||||||
| Pos_neg_data | 1744 | ||||||||
| 1774 | |||||||||
| 3056 | |||||||||
| 3083 | |||||||||
| 2874 | |||||||||
| 2875 | |||||||||
| 3055 | |||||||||
| 3067 | |||||||||
| 860 | |||||||||
| Reference (73) | |||||||||
| Remark | Sequence connection from [Hammerlund M] | ||||||||
| Method | Gene |
