WormBase Tree Display for Gene: WBGene00019347
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WBGene00019347 | SMap | S_parent | Sequence | CHROMOSOME_X | |||||
---|---|---|---|---|---|---|---|---|---|
Identity | Version | 2 | |||||||
Name | CGC_name | mbl-1 | Paper_evidence | WBPaper00032367 | |||||
Sequence_name | K02H8.1 | ||||||||
Molecular_name (24) | |||||||||
Other_name | CELE_K02H8.1 | Accession_evidence | NDB | BX284606 | |||||
Public_name | mbl-1 | ||||||||
DB_info | Database (11) | ||||||||
Species | Caenorhabditis elegans | ||||||||
History | Version_change | 1 | 28 May 2004 13:31:01 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
2 | 19 Dec 2008 11:28:55 | WBPerson2970 | Name_change | CGC_name | mbl-1 | ||||
Status | Live | ||||||||
Gene_info | Biotype | SO:0001217 | |||||||
Gene_class | mbl | ||||||||
Allele (482) | |||||||||
Component_of_genotype | WBGenotype00000141 | ||||||||
RNASeq_FPKM (74) | |||||||||
GO_annotation | 00003710 | ||||||||
00087458 | |||||||||
00087459 | |||||||||
00087460 | |||||||||
00087461 | |||||||||
00087462 | |||||||||
00087463 | |||||||||
00087464 | |||||||||
00087465 | |||||||||
00124222 | |||||||||
Ortholog (38) | |||||||||
Paralog | WBGene00021816 | Caenorhabditis elegans | From_analysis | TreeFam | |||||
Panther | |||||||||
WormBase-Compara | |||||||||
Structured_description | Concise_description | mbl-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_evidence | WBPaper00031330 | |||||
Curator_confirmed | WBPerson1843 | ||||||||
WBPerson567 | |||||||||
Date_last_updated | 19 Dec 2008 00:00:00 | ||||||||
Automated_description | Predicted 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_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:450 | Homo sapiens | Paper_evidence | WBPaper00062167 | ||||
Curator_confirmed | WBPerson324 | ||||||||
Date_last_updated | 01 Aug 2022 00:00:00 | ||||||||
Potential_model | DOID:5419 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:6923) | |||||
Models_disease_asserted | WBDOannot00001304 | ||||||||
Molecular_info | Corresponding_CDS | K02H8.1a | |||||||
K02H8.1b | |||||||||
K02H8.1c | |||||||||
K02H8.1d | |||||||||
K02H8.1e | |||||||||
K02H8.1f | |||||||||
K02H8.1g | |||||||||
Corresponding_CDS_history | K02H8.1:wp155 | ||||||||
K02H8.1d:wp271 | |||||||||
K02H8.1e:wp271 | |||||||||
Corresponding_transcript | K02H8.1a.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_factor | WBTranscriptionFactor000900 | ||||||||
Experimental_info | RNAi_result | WBRNAi00049779 | Inferred_automatically | RNAi_primary | |||||
Expr_pattern (12) | |||||||||
Drives_construct | WBCnstr00013643 | ||||||||
WBCnstr00014946 | |||||||||
WBCnstr00020421 | |||||||||
WBCnstr00025899 | |||||||||
WBCnstr00041291 | |||||||||
Construct_product (13) | |||||||||
Regulate_expr_cluster | WBPaper00051540: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_function | WBbtf0485 | ||||||||
WBbtf0486 | |||||||||
WBbtf0487 | |||||||||
WBbtf0488 | |||||||||
WBbtf0489 | |||||||||
Map_info | Map | X | Position | 24.0691 | Error | 0.001044 | |||
Positive | Positive_clone | K02H8 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
Pseudo_map_position | |||||||||
Reference (17) | |||||||||
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 |