WormBase Tree Display for Gene: WBGene00001309
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| WBGene00001309 | SMap | S_parent | Sequence | M01D7 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | emr-1 | |||||||
| Sequence_name | M01D7.6 | ||||||||
| Molecular_name | M01D7.6 | ||||||||
| M01D7.6.1 | |||||||||
| CE12270 | |||||||||
| M01D7.6.2 | |||||||||
| Other_name | CELE_M01D7.6 | Accession_evidence | NDB | BX284601 | |||||
| Public_name | emr-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:24 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | emr | ||||||||
| Allele (18) | |||||||||
| Strain | WBStrain00002843 | ||||||||
| WBStrain00035605 | |||||||||
| WBStrain00036376 | |||||||||
| WBStrain00003842 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (14) | |||||||||
| Contained_in_operon | CEOP1992 | ||||||||
| Ortholog (12) | |||||||||
| Structured_description | Concise_description | emr-1 gene encodes a homolog of the human integral nuclear membrane protein emerin ; EMR-1 belongs to a family of proteins sharing the LEM-domain (LAP2-Emerin-MAN1 domain) that are generally conserved in metazoa and bind to lamin; EMR-1, along with another LEM-domain protein, LEM-2 is required for larval development, normal life-span, nuclear envelope and chromatin organization, chromosome segregation and cell division; emr-1 is also required for smooth muscle activity; emr-1 negatively regulates pha-4, the transcription factor required for pharynx identity; EMR-1 protein is found in the nuclear envelopes of all cell types except sperm and at all life stages; EMR-1 binds to lamin/LMN-1; emr-1 mutations also exhibit weak hypersensitivity to DNA damage. | Paper_evidence | WBPaper00004339 | |||||
| WBPaper00005158 | |||||||||
| WBPaper00005648 | |||||||||
| WBPaper00005828 | |||||||||
| WBPaper00040518 | |||||||||
| WBPaper00037040 | |||||||||
| WBPaper00040826 | |||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPerson1843 | |||||||||
| WBPerson324 | |||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 12 Apr 2012 00:00:00 | ||||||||
| Automated_description | Enables lamin binding activity. Involved in several processes, including mitotic cytokinesis; nuclear envelope organization; and response to X-ray. Located in nuclear inner membrane. Used to study Emery-Dreifuss muscular dystrophy. Is an ortholog of human LEMD1 (LEM domain containing 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 | WBPaper00044786 | ||||
| Accession_evidence | OMIM | 181350 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 09 Oct 2017 00:00:00 | ||||||||
| Disease_relevance | Mutations in the human ortholog of emr-1, emerin, cause X-linked Emery-Dreifuss muscular dystrophy (EDMD); Emerin is a nuclear lamina protein and belongs to a family of LEM (LAP2-Emerin-MAN1) domain proteins that include MAN1, LEM2/NET25 and several others; LEM domain proteins bind lamin; mutations in human LMNA/lamin cause several laminopathic diseases including EDMD; much of the knowledge of the organization and assembly of the nuclear lamina has come from studies in elegans; studies in elegans have demonstrated the overlapping roles of emerin and lem-2 in embryogenesis, cell proliferation, lamin and heterochromatin organization; worm emerin and lem-2 are also involved in mitosis, smooth and striated muscle function, lifespan and meiotic progression, pointing to the many underlying processes that may affect disease phenotypes. | Homo sapiens | Paper_evidence | WBPaper00040268 | |||||
| Accession_evidence | OMIM | 310300 | |||||||
| 300384 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 01 Mar 2012 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000045 | ||||||||
| Molecular_info | Corresponding_CDS | M01D7.6 | |||||||
| Corresponding_transcript | M01D7.6.1 | ||||||||
| M01D7.6.2 | |||||||||
| Other_sequence | GRC02002_1 | ||||||||
| GPC01900_1 | |||||||||
| CRC09112_1 | |||||||||
| CR02292 | |||||||||
| GP02519 | |||||||||
| CBC09681_1 | |||||||||
| Associated_feature | WBsf982768 | ||||||||
| WBsf982769 | |||||||||
| WBsf217259 | |||||||||
| Experimental_info | RNAi_result (12) | ||||||||
| Expr_pattern (13) | |||||||||
| Drives_construct | WBCnstr00000686 | ||||||||
| WBCnstr00000688 | |||||||||
| WBCnstr00003365 | |||||||||
| WBCnstr00018932 | |||||||||
| WBCnstr00020603 | |||||||||
| WBCnstr00020604 | |||||||||
| WBCnstr00020605 | |||||||||
| WBCnstr00037001 | |||||||||
| Construct_product (11) | |||||||||
| Regulate_expr_cluster | WBPaper00044786:emr-1(gk119)_downregulated | ||||||||
| WBPaper00044786:emr-1(gk119)_upregulated | |||||||||
| WBPaper00044786:emr-1(RNAi);lem-2(tm1582)_downregulated | |||||||||
| WBPaper00044786:emr-1(RNAi);lem-2(tm1582)_upregulated | |||||||||
| Antibody | WBAntibody00000305 | ||||||||
| WBAntibody00000306 | |||||||||
| WBAntibody00000307 | |||||||||
| WBAntibody00000597 | |||||||||
| WBAntibody00001856 | |||||||||
| WBAntibody00001941 | |||||||||
| Microarray_results (22) | |||||||||
| Expression_cluster (149) | |||||||||
| Interaction (84) | |||||||||
| Map_info | Map | I | Position | -12.5332 | Error | 0.008453 | |||
| Positive | Positive_clone | M01D7 | Inferred_automatically | From CDS info | |||||
| From sequence, transcript, pseudogene data | |||||||||
| Mapping_data | Multi_point | 4286 | |||||||
| 4536 | |||||||||
| Pseudo_map_position | |||||||||
| Reference (35) | |||||||||
| Remark | Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC. | CGC_data_submission | |||||||
| Method | Gene |
