WormBase Tree Display for Gene: WBGene00003047
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| WBGene00003047 | SMap | S_parent | Sequence | T03F6 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | lis-1 | Person_evidence | WBPerson95 | |||||
| Sequence_name | T03F6.5 | ||||||||
| Molecular_name | T03F6.5 | ||||||||
| T03F6.5.1 | |||||||||
| CE29339 | |||||||||
| Other_name | pnm-1 | CGC_data_submission | |||||||
| CELE_T03F6.5 | Accession_evidence | NDB | BX284603 | ||||||
| Public_name | lis-1 | ||||||||
| DB_info | Database (12) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:30 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| 2 | 30 Nov 2004 12:49:58 | WBPerson2970 | Event | Acquires_merge | WBGene00004069 | ||||
| Acquires_merge | WBGene00004069 | ||||||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | lis | ||||||||
| Allele (92) | |||||||||
| Possibly_affected_by | WBVar02153211 | ||||||||
| Strain | WBStrain00035170 | ||||||||
| WBStrain00001689 | |||||||||
| WBStrain00027382 | |||||||||
| WBStrain00037375 | |||||||||
| WBStrain00007794 | |||||||||
| WBStrain00024323 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (62) | |||||||||
| Ortholog (39) | |||||||||
| Paralog | WBGene00004314 | Caenorhabditis elegans | From_analysis | WormBase-Compara | |||||
| WBGene00006474 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00008586 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00010572 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00013862 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00015974 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00019237 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| Structured_description | Concise_description | lis-1 encodes a microtubule-association protein (MAP) that is orthologous to human LIS1, and Aspergillus nidulans nudF, which mediates nuclear migration along Aspergillus hyphae; in C. elegans lis-1 functions as a dynein regulator whose activity is required for a number of processes, including centrosome separation, spindle assembly, regulation of neurotransmission, and actin cytoskeleton integrity; LIS-1 localizes to the cytoplasm, nucleus, and microtubules. | Paper_evidence | WBPaper00004103 | |||||
| WBPaper00004895 | |||||||||
| WBPaper00013551 | |||||||||
| WBPaper00029200 | |||||||||
| WBPaper00036385 | |||||||||
| WBPaper00024358 | |||||||||
| WBPaper00028525 | |||||||||
| Curator_confirmed | WBPerson1843 | ||||||||
| WBPerson1823 | |||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 02 May 2012 00:00:00 | ||||||||
| Automated_description | Predicted to enable dynein complex binding activity and microtubule plus-end binding activity. Involved in several processes, including chiasma assembly; microtubule-based process; and organelle localization. Located in cell cortex; perinuclear region of cytoplasm; and supramolecular complex. Part of cytoplasmic dynein complex. Expressed in several structures, including hermaphrodite gonad; hypodermis; neurons; preanal ganglion; and somatic nervous system. Used to study lissencephaly. Human ortholog(s) of this gene implicated in hepatocellular carcinoma; lissencephaly 1; and schizophrenia. Is an ortholog of human PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 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:0050453 | Homo sapiens | Paper_evidence | WBPaper00024523 | ||||
| WBPaper00029200 | |||||||||
| Accession_evidence | OMIM | 607432 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 24 Aug 2021 00:00:00 | ||||||||
| Potential_model | DOID:0112237 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:8574) | |||||
| DOID:0050453 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:8574) | ||||||
| DOID:684 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:8574) | ||||||
| DOID:5419 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:8574) | ||||||
| Disease_relevance | In humans, mutations in the LIS1 gene (Platelet activating factor acetylhydrolase, isoform 1B, alpha subunit; PAFAH1B1) and the LIS1 pathway, are implicated in Lissencephaly, a developmental abnormality associated with a failure of neuronal migration in the cerebral cortex, leading to mental retardation and epilepsy; the elegans genetic model for epileptic siezures consists of lis-1 mutants that are responsive to the common seizure inducer pentylenetetrazole (PTZ) and diplay a distinct convulsive phenotype, as do the GABA mutants, unc-25 (GABA synthesis gene), unc-46 and unc-47 (GABA vesicular transporters) and unc-49 (GABA-A receptor), in combination with PTZ; further, worms depleted for LIS1 pathway components via RNA interference (NUD-1, NUD-2, DHC-1, CDK-5, and CDKA-1) also exhibited significant convulsions following PTZ treatment; studies showed that the distribution of synaptic vesicles and vesicle trafficking is disrupted in GABA neurons of lis-1 mutants; these studies show that while knocking down target genes (lis-1, cdk-5, and cdka-1 that function in neuronal migration), and their interacting proteins like nud-1, nud-2 and dhc-1, does not yield spontaneous convulsions in C. elegans, further alterations in the neural environment through the application of PTZ serve to pass a critical threshold within these animals. | Homo sapiens | Paper_evidence | WBPaper00024523 | |||||
| WBPaper00042136 | |||||||||
| Accession_evidence | OMIM | 601545 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Models_disease_asserted | WBDOannot00000147 | ||||||||
| WBDOannot00001015 | |||||||||
| WBDOannot00001016 | |||||||||
| Molecular_info | Corresponding_CDS | T03F6.5 | |||||||
| Corresponding_CDS_history | T03F6.5:wp52 | ||||||||
| T03F6.5:wp63 | |||||||||
| Corresponding_transcript | T03F6.5.1 | ||||||||
| Other_sequence (29) | |||||||||
| Associated_feature | WBsf667577 | ||||||||
| WBsf994869 | |||||||||
| WBsf994870 | |||||||||
| WBsf994871 | |||||||||
| WBsf1016360 | |||||||||
| WBsf227732 | |||||||||
| WBsf227733 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00002619 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00091233 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00082905 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00064279 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00009104 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00026176 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00091232 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00052293 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00007203 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00090799 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern (15) | |||||||||
| Drives_construct | WBCnstr00000118 | ||||||||
| WBCnstr00002513 | |||||||||
| WBCnstr00011856 | |||||||||
| WBCnstr00012111 | |||||||||
| WBCnstr00020993 | |||||||||
| Construct_product | WBCnstr00011856 | ||||||||
| WBCnstr00012112 | |||||||||
| WBCnstr00014457 | |||||||||
| WBCnstr00020993 | |||||||||
| Antibody | WBAntibody00000780 | ||||||||
| WBAntibody00001240 | |||||||||
| WBAntibody00002791 | |||||||||
| Microarray_results (19) | |||||||||
| Expression_cluster (93) | |||||||||
| Interaction (115) | |||||||||
| Map_info | Map | III | Position | 21.2122 | Error | 0.000276 | |||
| Positive | Positive_clone | T03F6 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | Multi_point | 4849 | |||||||
| 4814 | |||||||||
| 4503 | |||||||||
| Pos_neg_data | 10210 | ||||||||
| Pseudo_map_position | |||||||||
| Reference (39) | |||||||||
| 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 |
