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WormBase Tree Display for Gene: WBGene00019347

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Name Class

WBGene00019347SMapS_parentSequenceCHROMOSOME_X
IdentityVersion2
NameCGC_namembl-1Paper_evidenceWBPaper00032367
Sequence_nameK02H8.1
Molecular_name (24)
Other_nameCELE_K02H8.1Accession_evidenceNDBBX284606
Public_namembl-1
DB_infoDatabase (11)
SpeciesCaenorhabditis elegans
HistoryVersion_change128 May 2004 13:31:01WBPerson1971EventImportedInitial conversion from CDS class of stlace from WS125
219 Dec 2008 11:28:55WBPerson2970Name_changeCGC_namembl-1
StatusLive
Gene_infoBiotypeSO:0001217
Gene_classmbl
Allele (482)
Component_of_genotypeWBGenotype00000141
RNASeq_FPKM (74)
GO_annotation00003710
00087458
00087459
00087460
00087461
00087462
00087463
00087464
00087465
00124222
Ortholog (38)
ParalogWBGene00021816Caenorhabditis elegansFrom_analysisTreeFam
Panther
WormBase-Compara
Structured_descriptionConcise_descriptionmbl-1 encodes, by alternative splicing, two isoforms of a putative MUSCLEBLIND-type mRNA splicing regulator required in adults for normal muscle dense body organization, locomotion, and vulval morphogenesis; MBL-1 is orthologous to Drosophila MBL and human MBNL1 (OMIM:606516), MBNL2 (OMIM:607327), and MBNL3 (OMIM:300413); mbl-1 is transcribed in larvae and adults; mbl-1(RNAi) animals show protruding vulvae, progressive uncoordination, and disordered dense bodies; while mbl-1 is required in adults, it is dispensable in larvae, perhaps reflecting a progressive muscle dystrophy in mbl-1(RNAi) animals.Paper_evidenceWBPaper00031330
Curator_confirmedWBPerson1843
WBPerson567
Date_last_updated19 Dec 2008 00:00:00
Automated_descriptionPredicted to enable RNA binding activity. Predicted to be involved in regulation of RNA splicing. Predicted to be located in nucleus. Expressed in excretory cell; neurons; and tail. Used to study myotonic disease. Human ortholog(s) of this gene implicated in schizophrenia. Is an ortholog of human MBNL3 (muscleblind like splicing regulator 3).Paper_evidenceWBPaper00065943
Curator_confirmedWBPerson324
WBPerson37462
Inferred_automaticallyThis description was generated automatically by a script based on data from the WS291 version of WormBase
Date_last_updated29 Nov 2023 00:00:00
Disease_infoExperimental_modelDOID:450Homo sapiensPaper_evidenceWBPaper00062167
Curator_confirmedWBPerson324
Date_last_updated01 Aug 2022 00:00:00
Potential_modelDOID:5419Homo sapiensInferred_automaticallyInferred by orthology to human genes with DO annotation (HGNC:6923)
Models_disease_assertedWBDOannot00001304
Molecular_infoCorresponding_CDSK02H8.1a
K02H8.1b
K02H8.1c
K02H8.1d
K02H8.1e
K02H8.1f
K02H8.1g
Corresponding_CDS_historyK02H8.1:wp155
K02H8.1d:wp271
K02H8.1e:wp271
Corresponding_transcriptK02H8.1a.1
K02H8.1a.2
K02H8.1b.1
K02H8.1c.1
K02H8.1c.2
K02H8.1c.3
K02H8.1d.1
K02H8.1e.1
K02H8.1f.1
K02H8.1g.1
Other_sequence (40)
Associated_feature (40)
Transcription_factorWBTranscriptionFactor000900
Experimental_infoRNAi_resultWBRNAi00049779Inferred_automaticallyRNAi_primary
Expr_pattern (12)
Drives_constructWBCnstr00013643
WBCnstr00014946
WBCnstr00020421
WBCnstr00025899
WBCnstr00041291
Construct_product (13)
Regulate_expr_clusterWBPaper00051540:exc-7(csb29);mbl-1(csb30)_downregulated
WBPaper00051540:exc-7(csb29);mbl-1(csb30)_upregulated
WBPaper00051540:mbl-1(csb30)_downregulated
WBPaper00051540:mbl-1(csb30)_upregulated
WBPaper00062167:mbl-1(tm1563)_downregulated
WBPaper00062167:mbl-1(tm1563)_upregulated
Microarray_results (26)
Expression_cluster (147)
Interaction (13)
Anatomy_functionWBbtf0485
WBbtf0486
WBbtf0487
WBbtf0488
WBbtf0489
Map_infoMapXPosition24.0691Error0.001044
PositivePositive_cloneK02H8Inferred_automaticallyFrom sequence, transcript, pseudogene data
Pseudo_map_position
Reference (17)
RemarkMap 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
MethodGene