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WormBase Tree Display for Gene: WBGene00000962

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Name Class

WBGene00000962EvidenceCGC_data_submission
SMapS_parentSequenceT21E12
IdentityVersion1
NameCGC_namedhc-1Person_evidenceWBPerson1562
Sequence_nameT21E12.4
Molecular_nameT21E12.4a
T21E12.4a.1
CE23997
T21E12.4b
CE51690
T21E12.4b.1
Other_namelet-354
spd-4
CELE_T21E12.4Accession_evidenceNDBBX284601
Public_namedhc-1
DB_infoDatabase (11)
SpeciesCaenorhabditis elegans
HistoryVersion_change107 Apr 2004 11:29:22WBPerson1971EventImportedInitial conversion from geneace
StatusLive
Gene_info (13)
Disease_infoExperimental_modelDOID:1826Homo sapiensPaper_evidenceWBPaper00028525
Curator_confirmedWBPerson324
Date_last_updated24 Aug 2021 00:00:00
DOID:0050453Homo sapiensPaper_evidenceWBPaper00028525
Accession_evidenceOMIM607432
Curator_confirmedWBPerson324
Date_last_updated17 Apr 2013 00:00:00
Potential_modelDOID:0070043Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:2961)
DOID:10652Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:2961)
DOID:0070351Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:2961)
DOID:0110175Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:2961)
Disease_relevanceIn 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 sapiensCurator_confirmedWBPerson324
Models_disease_in_annotationWBDOannot00000150
WBDOannot00001012
Molecular_infoCorresponding_CDST21E12.4a
T21E12.4b
Corresponding_transcriptT21E12.4a.1
T21E12.4b.1
Other_sequence (122)
Associated_featureWBsf643215
WBsf656205
WBsf656206
WBsf656207
WBsf656208
WBsf983394
WBsf217528
WBsf217529
Experimental_infoRNAi_result (43)
Expr_pattern (19)
Drives_constructWBCnstr00003093
WBCnstr00007434
WBCnstr00008880
WBCnstr00013402
WBCnstr00037176
WBCnstr00042469
Construct_productWBCnstr00007434
WBCnstr00008880
WBCnstr00013402
WBCnstr00037176
WBCnstr00039347
WBCnstr00042469
AntibodyWBAntibody00000242
WBAntibody00000917
WBAntibody00002792
WBAntibody00002860
Microarray_results (20)
Expression_cluster (137)
Interaction (292)
WBProcessWBbiopr:00000017
Map_infoMapIPosition-1.31043Error0.007943
Well_ordered
PositivePositive_cloneT21E12Inferred_automaticallyFrom sequence, transcript, pseudogene data
Mapping_data2_point2523
Multi_point1007
1758
1759
1760
1761
1762
1763
3862
Pos_neg_data (15)
Reference (130)
RemarkSequence connection from [Schmidt D, Strome S]
Previous connection of genomic_sequence to dhc-14 was a typo [030225 ck1]
MethodGene