WormBase Tree Display for Gene: WBGene00000140
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WBGene00000140 | SMap | S_parent | Sequence | CHROMOSOME_I | |||
---|---|---|---|---|---|---|---|
Identity (6) | |||||||
Gene_info (13) | |||||||
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 | WBPaper00060317:anc-1(RNAi)_downregulated | ||||||
WBPaper00060317:anc-1(RNAi)_upregulated | |||||||
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 |