WormBase Tree Display for Gene: WBGene00000962
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| WBGene00000962 | Evidence | CGC_data_submission | |||||||
|---|---|---|---|---|---|---|---|---|---|
| SMap | S_parent | Sequence | T21E12 | ||||||
| Identity | Version | 1 | |||||||
| Name | CGC_name | dhc-1 | Person_evidence | WBPerson1562 | |||||
| Sequence_name | T21E12.4 | ||||||||
| Molecular_name | T21E12.4a | ||||||||
| T21E12.4a.1 | |||||||||
| CE23997 | |||||||||
| T21E12.4b | |||||||||
| CE51690 | |||||||||
| T21E12.4b.1 | |||||||||
| Other_name | let-354 | ||||||||
| spd-4 | |||||||||
| CELE_T21E12.4 | Accession_evidence | NDB | BX284601 | ||||||
| Public_name | dhc-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:22 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | dhc | ||||||||
| Reference_allele | WBVar00146410 | ||||||||
| Allele (201) | |||||||||
| Possibly_affected_by | WBVar02153208 | ||||||||
| Legacy_information | [C.elegansII] h79 : mid-larval lethal, no dominant effect. OA>20 (recessive lethals), also 3 dominant alleles: ct42, ct76, ct77 (all 3 alleles lead to recessive zygotic larval lethality, dominant embryonic Mel). [Howell and Rose 1990; Mains et al. 1990; HR; KR] | ||||||||
| [Bowerman BA] temperature-sensitive embryonic lethal, permissive = 15 C, restrictive = 25 C. small mitotic spindle | |||||||||
| Strain (20) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (48) | |||||||||
| Contained_in_operon | CEOP1994 | ||||||||
| Ortholog (54) | |||||||||
| Paralog | WBGene00000485 | Caenorhabditis elegans | From_analysis | Panther | |||||
| WormBase-Compara | |||||||||
| WBGene00012272 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WBGene00007154 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WormBase-Compara | |||||||||
| Structured_description | Concise_description | dhc-1 encodes a cytoplasmic dynein heavy chain homolog required in one-cell embryos for pronuclear migration, centrosome separation, centrosome proximity to the male pronucleus, and mitotic spindle orientation, suggesting that DHC-1 helps position the microtubule organizing center; DHC-1 genetically interacts with SPD-5, a coiled-coil centrosomal protein. | Paper_evidence | WBPaper00001274 | |||||
| WBPaper00001339 | |||||||||
| WBPaper00002958 | |||||||||
| WBPaper00003704 | |||||||||
| WBPaper00005565 | |||||||||
| Curator_confirmed | WBPerson567 | ||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Predicted to enable minus-end-directed microtubule motor activity. Involved in several processes, including cellular localization; neuron remodeling; and regulation of cellular localization. Located in several cellular components, including kinetochore; nuclear envelope; and spindle pole. Expressed in germ cell; head; somatic cell; and tail. Used to study epilepsy and lissencephaly. Human ortholog(s) of this gene implicated in Alzheimer's disease; Charcot-Marie-Tooth disease axonal type 2O; autosomal dominant intellectual developmental disorder 13; and spinal muscular atrophy with lower extremity predominant 1. Is an ortholog of human DYNC1H1 (dynein cytoplasmic 1 heavy chain 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:1826 | Homo sapiens | Paper_evidence | WBPaper00028525 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 24 Aug 2021 00:00:00 | ||||||||
| DOID:0050453 | Homo sapiens | Paper_evidence | WBPaper00028525 | ||||||
| Accession_evidence | OMIM | 607432 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 17 Apr 2013 00:00:00 | ||||||||
| Potential_model | DOID:0070043 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2961) | |||||
| DOID:10652 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2961) | ||||||
| DOID:0070351 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2961) | ||||||
| DOID:0110175 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2961) | ||||||
| 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; human NDE1 and NDEL1, are effectors of LIS1; 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; studies in the worm show that dhc-1/dynein heavy chain (orthologous to human DYNC1H1), is a LIS1 pathway component and 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; further nud-1 (orthologous to human NUDC), nud-2/NDE1 and cdk-5 show significant enhancement in convulsions in a lis-1 heterozygous background when compared with the wild-type background; these animals are also less likely to recover when PTZ treatment is removed, when compared to wild-type; 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 | Curator_confirmed | WBPerson324 | |||||
| Models_disease_in_annotation | WBDOannot00000150 | ||||||||
| WBDOannot00001012 | |||||||||
| Molecular_info | Corresponding_CDS | T21E12.4a | |||||||
| T21E12.4b | |||||||||
| Corresponding_transcript | T21E12.4a.1 | ||||||||
| T21E12.4b.1 | |||||||||
| Other_sequence (122) | |||||||||
| Associated_feature | WBsf643215 | ||||||||
| WBsf656205 | |||||||||
| WBsf656206 | |||||||||
| WBsf656207 | |||||||||
| WBsf656208 | |||||||||
| WBsf983394 | |||||||||
| WBsf217528 | |||||||||
| WBsf217529 | |||||||||
| Experimental_info | RNAi_result (43) | ||||||||
| Expr_pattern (19) | |||||||||
| Drives_construct | WBCnstr00003093 | ||||||||
| WBCnstr00007434 | |||||||||
| WBCnstr00008880 | |||||||||
| WBCnstr00013402 | |||||||||
| WBCnstr00037176 | |||||||||
| WBCnstr00042469 | |||||||||
| Construct_product | WBCnstr00007434 | ||||||||
| WBCnstr00008880 | |||||||||
| WBCnstr00013402 | |||||||||
| WBCnstr00037176 | |||||||||
| WBCnstr00039347 | |||||||||
| WBCnstr00042469 | |||||||||
| Antibody | WBAntibody00000242 | ||||||||
| WBAntibody00000917 | |||||||||
| WBAntibody00002792 | |||||||||
| WBAntibody00002860 | |||||||||
| Microarray_results (20) | |||||||||
| Expression_cluster (137) | |||||||||
| Interaction (292) | |||||||||
| WBProcess | WBbiopr:00000017 | ||||||||
| Map_info | Map | I | Position | -1.31043 | Error | 0.007943 | |||
| Well_ordered | |||||||||
| Positive | Positive_clone | T21E12 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | 2_point | 2523 | |||||||
| Multi_point | 1007 | ||||||||
| 1758 | |||||||||
| 1759 | |||||||||
| 1760 | |||||||||
| 1761 | |||||||||
| 1762 | |||||||||
| 1763 | |||||||||
| 3862 | |||||||||
| Pos_neg_data (15) | |||||||||
| Reference (130) | |||||||||
| Remark | Sequence connection from [Schmidt D, Strome S] | ||||||||
| Previous connection of genomic_sequence to dhc-14 was a typo [030225 ck1] | |||||||||
| Method | Gene |
