WormBase Tree Display for Gene: WBGene00000241
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| WBGene00000241 | Evidence | Paper_evidence | WBPaper00024175 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| SMap | S_parent | Sequence | Y105E8A | ||||||
| Identity | Version | 1 | |||||||
| Name | CGC_name | bbs-1 | Person_evidence | WBPerson2136 | |||||
| Sequence_name | Y105E8A.5 | ||||||||
| Molecular_name | Y105E8A.5 | ||||||||
| Y105E8A.5.1 | |||||||||
| CE25181 | |||||||||
| Other_name | Y105E8E.c | Curator_confirmed | WBPerson1983 | ||||||
| Remark | Old cosmid naming mapped via unique overlapping PCR_product on CDSs | ||||||||
| CELE_Y105E8A.5 | Accession_evidence | NDB | BX284601 | ||||||
| Public_name | bbs-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:20 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | bbs | ||||||||
| Allele (88) | |||||||||
| Strain | WBStrain00002685 | ||||||||
| WBStrain00001553 | |||||||||
| WBStrain00001554 | |||||||||
| WBStrain00036107 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (23) | |||||||||
| Ortholog (39) | |||||||||
| Structured_description | Concise_description | bbs-1 encodes the C. elegans ortholog of human BBS1, a protein containing a predicted beta-propeller domain; bbs-1 is a component of and is required for proper intraflagellar transport (IFT); bbs-1 acts in ciliated neurons in a pathway along with kat-1/3-ketoacyl-coA thiolase, tub-1/tubby and other genes involved in ciliary structure and function to regulate fat storage, as such, bbs-1 affects body size, feeding and chemosensation; bbs-1 is also required for the proper regulation of insulin secretion; bbs-1, bbs-5, bbs-8 and bbs-9 mutants along with ciliary phenotypes show an increased secretion of insulin, biogenic amines and neuropeptides which requires the Rab27/AEX-6 dense-core vesicle exocytosis machinery; BBS-1::GFP reporter fusion is expressed exclusively in ciliated neurons, where it localizes to the transition zones and along the ciliary axonemes; the bbs-1 5' untranslated region contains an X box, a regulatory element found in many genes expressed in ciliated neurons, that functions as a binding site for the DAF-19 transcription factor. | Paper_evidence | WBPaper00024175 | |||||
| WBPaper00024240 | |||||||||
| WBPaper00027085 | |||||||||
| WBPaper00029131 | |||||||||
| WBPaper00040543 | |||||||||
| Curator_confirmed | WBPerson1843 | ||||||||
| WBPerson324 | |||||||||
| Date_last_updated | 27 Jan 2012 00:00:00 | ||||||||
| Automated_description | Predicted to enable patched binding activity and smoothened binding activity. Involved in non-motile cilium assembly. Acts upstream of or within intraciliary retrograde transport and protein localization to cilium. Located in axoneme; ciliary basal body; and neuron projection. Expressed in ciliated neurons and sensory neurons. Used to study Bardet-Biedl syndrome; alcohol use disorder; and obesity. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 1 and obesity. Is an ortholog of human BBS1 (Bardet-Biedl syndrome 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:1574 | Homo sapiens | Paper_evidence | WBPaper00041098 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 05 Jun 2019 00:00:00 | ||||||||
| DOID:1935 | Homo sapiens | Paper_evidence | WBPaper00040341 | ||||||
| Accession_evidence | OMIM | 209900 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 30 Jan 2013 00:00:00 | ||||||||
| DOID:9970 | Homo sapiens | Paper_evidence | WBPaper00013100 | ||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 30 Jan 2013 00:00:00 | ||||||||
| Potential_model | DOID:0110123 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:966) | |||||
| DOID:9970 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:966) | ||||||
| DOID:1935 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:966) | ||||||
| Disease_relevance | In humans, the BBS1 gene is mutated in Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome phenotypes include retinal degeneration, obesity, renal malformations, polydactyly and learning disabilities ; studies in the worm have contributed extensively to the finding that cystic kidney diseases can be considered ciliopathies; most of the known BBS proteins in human and elegans encode basal body or cilia proteins involved in ciliary structure and function including intraflagellar transport (IFT); studies in elegans indicate the following: bbs-1 is required for proper cilium structure and function and acts with tub-1/tubby and other ciliary genes in sensory neurons to regulate fat storage indicating the presence of a neuroendocrine axis involved in fat regulation; bbs proteins also regulate secretion of insulin, biogenic amines and neuropeptides, suggesting that some of the clinical manifestations of human BBS may result from excessive endocrine activity; the transcription of BBS proteins and other ciliary proteins is mediated by a RFX-transcription factor. | Homo sapiens | Paper_evidence | WBPaper00038373 | |||||
| WBPaper00040699 | |||||||||
| WBPaper00040543 | |||||||||
| Accession_evidence | OMIM | 209900 | |||||||
| 209901 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 27 Jan 2012 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00000035 | ||||||||
| Models_disease_asserted | WBDOannot00000313 | ||||||||
| WBDOannot00000694 | |||||||||
| Molecular_info | Corresponding_CDS | Y105E8A.5 | |||||||
| Corresponding_transcript | Y105E8A.5.1 | ||||||||
| Other_sequence | JI213633.1 | ||||||||
| Associated_feature | WBsf047489 | ||||||||
| WBsf649755 | |||||||||
| WBsf665121 | |||||||||
| WBsf986145 | |||||||||
| WBsf1011237 | |||||||||
| WBsf220603 | |||||||||
| WBsf220604 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00055232 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00036497 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern (12) | |||||||||
| Drives_construct | WBCnstr00001363 | ||||||||
| WBCnstr00002314 | |||||||||
| WBCnstr00003226 | |||||||||
| WBCnstr00004305 | |||||||||
| WBCnstr00006585 | |||||||||
| WBCnstr00008558 | |||||||||
| WBCnstr00008559 | |||||||||
| WBCnstr00011381 | |||||||||
| WBCnstr00037636 | |||||||||
| Construct_product | WBCnstr00011381 | ||||||||
| WBCnstr00015633 | |||||||||
| WBCnstr00015634 | |||||||||
| WBCnstr00015644 | |||||||||
| WBCnstr00015647 | |||||||||
| WBCnstr00015652 | |||||||||
| WBCnstr00015655 | |||||||||
| WBCnstr00037636 | |||||||||
| Microarray_results (18) | |||||||||
| Expression_cluster (143) | |||||||||
| Interaction | WBInteraction000008602 | ||||||||
| WBInteraction000008926 | |||||||||
| WBInteraction000520983 | |||||||||
| WBInteraction000543017 | |||||||||
| WBInteraction000543072 | |||||||||
| WBInteraction000543076 | |||||||||
| Anatomy_function | WBbtf0477 | ||||||||
| WBbtf0478 | |||||||||
| WBbtf0479 | |||||||||
| Map_info | Map | I | Position | 24.5324 | Error | 0.045707 | |||
| Positive | Positive_clone | Y105E8A | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | Multi_point | 4894 | |||||||
| Pseudo_map_position | |||||||||
| Reference (27) | |||||||||
| 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 |
