WormBase Tree Display for Gene: WBGene00003475
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| WBGene00003475 | Evidence | Paper_evidence | WBPaper00006051 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Person_evidence | WBPerson170 | ||||||||
| SMap | S_parent | Sequence | Y110A7A | ||||||
| Identity | Version | 1 | |||||||
| Name | CGC_name | mtm-1 | Person_evidence | WBPerson170 | |||||
| Sequence_name | Y110A7A.5 | ||||||||
| Molecular_name | Y110A7A.5 | ||||||||
| Y110A7A.5.1 | |||||||||
| CE30707 | |||||||||
| Other_name | CELE_Y110A7A.5 | Accession_evidence | NDB | BX284601 | |||||
| Public_name | mtm-1 | ||||||||
| DB_info | Database | AceView | gene | 1F705 | |||||
| WormQTL | gene | WBGene00003475 | |||||||
| WormFlux | gene | WBGene00003475 | |||||||
| OMIM | disease | 310400 | |||||||
| gene | 300415 | ||||||||
| 603557 | |||||||||
| NDB | locus_tag | CELE_Y110A7A.5 | |||||||
| Panther | gene | CAEEL|WormBase=WBGene00003475|UniProtKB=Q9N589 | |||||||
| family | PTHR10807 | ||||||||
| NCBI | gene | 172148 | |||||||
| RefSeq | protein | NM_059130.6 | |||||||
| SwissProt | UniProtAcc | Q9N589 | |||||||
| UniProt_GCRP | UniProtAcc | Q9N589 | |||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:32 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | mtm | ||||||||
| Allele (39) | |||||||||
| Strain | WBStrain00035804 | ||||||||
| WBStrain00040538 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (32) | |||||||||
| Contained_in_operon | CEOP1220 | ||||||||
| Ortholog (53) | |||||||||
| Paralog | WBGene00003479 | Caenorhabditis elegans | From_analysis | TreeFam | |||||
| Panther | |||||||||
| WormBase-Compara | |||||||||
| WBGene00003476 | Caenorhabditis elegans | From_analysis | TreeFam | ||||||
| Panther | |||||||||
| WormBase-Compara | |||||||||
| WBGene00021683 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WormBase-Compara | |||||||||
| WBGene00003477 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WormBase-Compara | |||||||||
| WBGene00003478 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| Structured_description | Concise_description | mtm-1 encodes a myotubularin lipid phosphatase orthologous to human MTM1, MTMR1, and MTMR2; MTM-1 activity is required for negative regulation of endocytosis and apoptotic cell engulfment; mtm-1(RNAi)suppresses the endocytosis defect seen in animals with mutations in let-512 mutants, which encodes a phosphatidylinositol 3-kinase orthologous to yeast Vps34; MTM-1 localizes to the plasma membrane. | Paper_evidence | WBPaper00004103 | |||||
| WBPaper00006051 | |||||||||
| WBPaper00035284 | |||||||||
| Curator_confirmed | WBPerson1843 | ||||||||
| WBPerson1823 | |||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 18 Apr 2011 00:00:00 | ||||||||
| Automated_description | Enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; phosphatidylinositol-3-phosphate phosphatase activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in negative regulation of engulfment of apoptotic cell and phospholipid dephosphorylation. Located in apical cortex; cytosol; and plasma membrane. Expressed in several structures, including coelomocyte; hermaphrodite somatic gonadal cell; neurons; pharynx; and vulva. Used to study centronuclear myopathy. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B1 and congenital structural myopathy. Is an ortholog of human MTM1 (myotubularin 1); MTMR1 (myotubularin related protein 1); and MTMR2 (myotubularin related protein 2). | 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:14717 | Homo sapiens | Paper_evidence | WBPaper00006051 | ||||
| Accession_evidence | OMIM | 310400 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 15 Oct 2018 00:00:00 | ||||||||
| Potential_model | DOID:422 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:7448) | |||||
| DOID:0110191 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:7450) | ||||||
| Disease_relevance | Mutations in the human myotubularin family of lipid phosphatases, are associated with myotubular myopathy (associated gene, MTM1) Charcot-Marie-Tooth disease, a group of progressive demyelinating neuropathies that affect the peripheral nerves (associated gene, MTMR2); mutations in myotubularin MTM1, cause X-linked myotubular myopathy characterized by muscle weakness (myopathy) and decreased muscle tone (hypotonia), which impair the development of motor skills; C. elegans serves as a model to study the cellular functions of myotubularins; elegans mtm-1 is a phosphoinositide 3-phosphatase and functions as a negative regulator of endocytosis and apoptotic engulfment; expression of human MTM1 partially rescues elegans mtm-1 mutants which show accumulation of internalized but undegraded cell corpses; these studies indicate that mtm-1 is required for proper maturation of phagosomes containing apoptotic corpses, in particular for the recycling of the apoptotic cell corpse receptor CED-1/MEGF10. | Homo sapiens | Paper_evidence | WBPaper00038317 | |||||
| WBPaper00006051 | |||||||||
| Accession_evidence | OMIM | 310400 | |||||||
| 300415 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 03 Mar 2014 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000275 | ||||||||
| Molecular_info | Corresponding_CDS | Y110A7A.5 | |||||||
| Corresponding_transcript | Y110A7A.5.1 | ||||||||
| Other_sequence (15) | |||||||||
| Associated_feature | WBsf643276 | ||||||||
| WBsf983606 | |||||||||
| WBsf1009771 | |||||||||
| WBsf217628 | |||||||||
| Experimental_info | RNAi_result (83) | ||||||||
| Expr_pattern | Expr2663 | ||||||||
| Expr2665 | |||||||||
| Expr8825 | |||||||||
| Expr8826 | |||||||||
| Expr9266 | |||||||||
| Expr1022028 | |||||||||
| Expr1031591 | |||||||||
| Expr1158866 | |||||||||
| Expr2013809 | |||||||||
| Expr2032049 | |||||||||
| Drives_construct | WBCnstr00005817 | ||||||||
| WBCnstr00008219 | |||||||||
| WBCnstr00008221 | |||||||||
| WBCnstr00008222 | |||||||||
| WBCnstr00008232 | |||||||||
| WBCnstr00010889 | |||||||||
| WBCnstr00036092 | |||||||||
| Construct_product (11) | |||||||||
| Microarray_results (18) | |||||||||
| Expression_cluster (47) | |||||||||
| Interaction (65) | |||||||||
| WBProcess | WBbiopr:00000015 | ||||||||
| Map_info | Map | I | Position | -0.379315 | Error | 0.008228 | |||
| Positive | Positive_clone | Y110A7A | Inferred_automatically | From CDS info | |||||
| From sequence, transcript, pseudogene data | |||||||||
| Mapping_data | Multi_point | 4501 | |||||||
| Pseudo_map_position | |||||||||
| Reference (19) | |||||||||
| 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 |
