WormBase Tree Display for Gene: WBGene00016744
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| WBGene00016744 | SMap | S_parent | Sequence | C48B6 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | bbs-9 | Paper_evidence | WBPaper00028949 | |||||
| Person_evidence | WBPerson2136 | ||||||||
| Sequence_name | C48B6.8 | ||||||||
| Molecular_name | C48B6.8 | ||||||||
| C48B6.8.1 | |||||||||
| CE46977 | |||||||||
| Other_name | CELE_C48B6.8 | Accession_evidence | NDB | BX284601 | |||||
| Public_name | bbs-9 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:30:57 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 11 May 2007 11:55:05 | WBPerson2970 | Name_change | CGC_name | bbs-9 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | bbs | ||||||||
| Allele (48) | |||||||||
| Strain | WBStrain00036291 | ||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00024892 | ||||||||
| 00024893 | |||||||||
| 00024894 | |||||||||
| 00024895 | |||||||||
| 00024896 | |||||||||
| 00024897 | |||||||||
| 00122288 | |||||||||
| Ortholog (36) | |||||||||
| Structured_description | Concise_description | bbs-9 is orthologous to the human parathyroid hormone-responsive B1 gene, also known as BBS9; bbs-9 apart from being required for proper cilium morphology and function, is also required, similar to bbs-1, bbs-5, and bbs-8, for the regulation of insulin release from sensory neurons; bbs-9 mutants exhibit an increased secretion of insulin, daf-7, a neurally expressed TGF-beta ligand, and flp-21, a FRMF-amide neuropeptide; accordingly mutants display body size, feeding and metabolic defects; increased secretion of bbs mutants requires the Rab27/AEX-6 dense-core vesicle exocytosis machinery; the metabolic and ciliary phenotypes of bbs-9 and similar bbs mutants indicate that normal ciliary function is required for detection of food-related stimuli along with the coordination of metabolic, growth and insulin-signaling pathways. | Paper_evidence | WBPaper00040543 | |||||
| WBPaper00028949 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 07 Feb 2012 00:00:00 | ||||||||
| Automated_description | Predicted to be involved in cilium assembly. Located in ciliary basal body. Used to study Bardet-Biedl syndrome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 9; craniosynostosis; and primary ovarian insufficiency. Is an ortholog of human BBS9 (Bardet-Biedl syndrome 9). | 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:1935 | Homo sapiens | Paper_evidence | WBPaper00040341 | ||||
| Accession_evidence | OMIM | 209900 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 05 May 2017 00:00:00 | ||||||||
| Potential_model | DOID:5426 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:30000) | |||||
| DOID:0110131 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:30000) | ||||||
| DOID:2340 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:30000) | ||||||
| DOID:1935 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:30000) | ||||||
| Disease_relevance | The human ortholog, parathyroid hormone-responsive B1 gene, also known as BBS9 is mutated in Bardet-Biedl syndrome 9; 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 C.elegans indicate that: BBS proteins may regulate GCY-35/GCY-36 cGMP signaling which can affect BBS mutant gene phenotypes; 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; transcription of BBS proteins is regulated by a RFX-transcription factor. | Homo sapiens | Paper_evidence | WBPaper00040341 | |||||
| Accession_evidence | OMIM | 209900 | |||||||
| 607968 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 05 May 2017 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000042 | ||||||||
| Molecular_info | Corresponding_CDS | C48B6.8 | |||||||
| Corresponding_CDS_history | C48B6.8:wp86 | ||||||||
| C48B6.8:wp229 | |||||||||
| Corresponding_transcript | C48B6.8.1 | ||||||||
| Other_sequence | CGC01142_1 | ||||||||
| Associated_feature | WBsf047488 | ||||||||
| WBsf649263 | |||||||||
| WBsf664374 | |||||||||
| WBsf219652 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00003191 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00042727 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr1011380 | ||||||||
| Expr1037191 | |||||||||
| Expr1146717 | |||||||||
| Expr2009575 | |||||||||
| Expr2027812 | |||||||||
| Construct_product | WBCnstr00015640 | ||||||||
| WBCnstr00015647 | |||||||||
| WBCnstr00015648 | |||||||||
| WBCnstr00015654 | |||||||||
| Microarray_results (14) | |||||||||
| Expression_cluster (141) | |||||||||
| Interaction | WBInteraction000217062 | ||||||||
| WBInteraction000264619 | |||||||||
| WBInteraction000330734 | |||||||||
| WBInteraction000365371 | |||||||||
| WBInteraction000387505 | |||||||||
| WBInteraction000543072 | |||||||||
| WBInteraction000543074 | |||||||||
| Map_info | Map | I | Position | 1.51116 | Error | 0.012208 | |||
| Positive | Positive_clone | C48B6 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00026601 | ||||||||
| WBPaper00029016 | |||||||||
| WBPaper00038491 | |||||||||
| WBPaper00040543 | |||||||||
| WBPaper00055090 | |||||||||
| WBPaper00064108 | |||||||||
| WBPaper00064187 | |||||||||
| 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 |
