WormBase Tree Display for Gene: WBGene00001309
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WBGene00001309 | SMap | S_parent | Sequence | M01D7 | |||
---|---|---|---|---|---|---|---|
Identity (6) | |||||||
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 |