WormBase Tree Display for Gene: WBGene00000140
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| WBGene00000140 | SMap | S_parent | Sequence | CHROMOSOME_I | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | anc-1 | Person_evidence | WBPerson261 | |||||
| Sequence_name | ZK973.6 | ||||||||
| Molecular_name | ZK973.6a | ||||||||
| ZK973.6a.1 | |||||||||
| CE33588 | |||||||||
| ZK973.6b | |||||||||
| CE52283 | |||||||||
| ZK973.6c | |||||||||
| CE52179 | |||||||||
| ZK973.6b.1 | |||||||||
| ZK973.6c.1 | |||||||||
| Other_name | T03A1.a | Curator_confirmed | WBPerson1983 | ||||||
| Remark | Old cosmid naming mapped via unique overlapping PCR_product on CDSs | ||||||||
| T03A1.c | Curator_confirmed | WBPerson1983 | |||||||
| Remark | Old cosmid naming mapped via unique overlapping PCR_product on CDSs | ||||||||
| CELE_ZK973.6 | Accession_evidence | NDB | BX284601 | ||||||
| Public_name | anc-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:20 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | anc | ||||||||
| Reference_allele | WBVar00144282 | ||||||||
| Allele (389) | |||||||||
| Legacy_information | e1753amber : nuclei of hyperdermal cells not elastically anchored other cytoskeletal abnormalities; no gross phenotype. ES1. NA5 (e1802 e1873 etc. (all resemble e1753)). All alleles tend to revert spontaneously by intragenic reversion. | ||||||||
| See also e1753, e1802, e1873, e1874, e1885 | |||||||||
| [C.elegansII] e1753amb : nuclei of hypodermal cells not elastically anchored; other cytoskeletal abnormalities; no gross phenotype. Enhances multivulva phenotype of lin-15 mutants, without change in lineage.e1753/Df is very unhealthy. ES1. OA4: e1802, e1873, e1874, e1885(all resemble e1753; all alleles tend to revert spontaneously by intragenic reversion). e1753, e1802, e1873, e1874, e1885 [Hedgecock and Thomson 1982; CZ] | |||||||||
| Strain | WBStrain00002893 | ||||||||
| WBStrain00004478 | |||||||||
| WBStrain00004479 | |||||||||
| WBStrain00004485 | |||||||||
| WBStrain00004487 | |||||||||
| Component_of_genotype | WBGenotype00000139 | ||||||||
| WBGenotype00000140 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (30) | |||||||||
| Contained_in_operon | CEOP1922 | ||||||||
| Ortholog (36) | |||||||||
| Paralog (13) | |||||||||
| Structured_description | Concise_description | anc-1 encodes a protein, orthologous to Drosophila MSP 300 and mammalian SYNE1 and SYNE2 proteins; ANC-1 has coiled regions, a nuclear envelope localization domain (the KASH domain) and an actin-binding domain; ANC-1 affects the positioning of nuclei and mitochondria within the cytoskeleton; ANC-1 is expressed in the cytoplasm, but is localized to the nuclear periphery in an UNC-84 dependent manner. | Paper_evidence | WBPaper00005468 | |||||
| WBPaper00005616 | |||||||||
| WBPaper00027717 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 02 Oct 2006 00:00:00 | ||||||||
| Automated_description | Predicted to enable actin binding activity and kinesin binding activity. Involved in cytoskeleton organization; nucleus organization; and pronuclear migration. Located in nuclear envelope and perinuclear region of cytoplasm. Expressed in several structures, including body wall musculature; intestinal cell; and vulval muscle. Used to study Emery-Dreifuss muscular dystrophy. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita-3; autosomal dominant Emery-Dreifuss muscular dystrophy 4; autosomal dominant Emery-Dreifuss muscular dystrophy 5; autosomal recessive spinocerebellar ataxia 8; and bipolar disorder. Is an ortholog of human SYNE1 (spectrin repeat containing nuclear envelope protein 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:11726 | Homo sapiens | Paper_evidence | WBPaper00040268 | ||||
| Accession_evidence | OMIM | 612998 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 14 Feb 2013 00:00:00 | ||||||||
| Potential_model | DOID:3312 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:17089) | |||||
| DOID:0070249 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:17089) | ||||||
| DOID:9884 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:17089) | ||||||
| DOID:0070250 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:17084) | ||||||
| DOID:0080954 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:17089) | ||||||
| DOID:0050753 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:17089) | ||||||
| DOID:0080979 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:17089) | ||||||
| DOID:0111618 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:17089) | ||||||
| Disease_relevance | The human ortholog of anc-1, SYNE1 (spectrin repeat containing, nuclear envelope 1) encodes for the Nesprin 1 protein; mutations in SYNE1, similar to those in LMNA/Lamin, cause laminopathic diseases like Emery-Dreifuss muscular dystrophy (EDMD) and Spinocerebellar ataxia; Nesprin 1 belongs to the family of mammalian KASH domain proteins; vertebrates have Nesprin-1/SYNE1, Nesprin-2/SYNE2, Nesprin-3/SYNE3 and Nesprin-4/SYNE4) that encode at least 12 isoforms, by alternative transcription and splicing; KASH-domain proteins along with SUN-domain proteins form a LINC (linker of nucleoskeleton and cytoskeleton) complex which links components of the nucleus with the cytoplasm; studies in elegans show that anc-1 interacts with actin and is involved in nuclear positioning and migration; anc-1 requires the SUN domain protein UNC-84, orthologous to mammalian SUN1 and SUN2 proteins, for its nuclear localization. | Homo sapiens | Paper_evidence | WBPaper00040268 | |||||
| Accession_evidence | OMIM | 612998 | |||||||
| 610743 | |||||||||
| 608441 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 09 Mar 2012 00:00:00 | ||||||||
| Modifies_disease | DOID:070355 | ||||||||
| Models_disease_in_annotation | WBDOannot00000048 | ||||||||
| Modifies_disease_in_annotation | WBDOannot00001302 | ||||||||
| Molecular_info | Corresponding_CDS | ZK973.6a | |||||||
| ZK973.6b | |||||||||
| ZK973.6c | |||||||||
| Corresponding_CDS_history | ZK973.6:wp96 | ||||||||
| Corresponding_transcript | ZK973.6a.1 | ||||||||
| ZK973.6b.1 | |||||||||
| ZK973.6c.1 | |||||||||
| Other_sequence (97) | |||||||||
| Associated_feature (28) | |||||||||
| Experimental_info | RNAi_result (28) | ||||||||
| Expr_pattern | Chronogram1817 | ||||||||
| Expr2219 | |||||||||
| Expr2220 | |||||||||
| Expr12539 | |||||||||
| Expr1027397 | |||||||||
| Expr1030073 | |||||||||
| Expr1163298 | |||||||||
| Expr2009333 | |||||||||
| Expr2027569 | |||||||||
| Drives_construct | WBCnstr00003410 | ||||||||
| Construct_product | WBCnstr00010709 | ||||||||
| Regulate_expr_cluster (2) | |||||||||
| Antibody | WBAntibody00000559 | ||||||||
| Microarray_results (43) | |||||||||
| Expression_cluster (249) | |||||||||
| Interaction (51) | |||||||||
| Map_info | Map | I | Position | -1.5 | Error | 0.011025 | |||
| Positive | Positive_clone | ZK973 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | 2_point | 642 | |||||||
| Multi_point | 572 | ||||||||
| 573 | |||||||||
| 574 | |||||||||
| 575 | |||||||||
| 5329 | |||||||||
| Pos_neg_data | 6698 | ||||||||
| 6699 | |||||||||
| Reference (46) | |||||||||
| Remark | Starr DA, Han M, modified prediction. [021111 ck1] | ||||||||
| Method | Gene |
