WormBase Tree Display for Gene: WBGene00006922
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| WBGene00006922 | SMap | S_parent | Sequence | F08G12 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | vhl-1 | Person_evidence | WBPerson322 | |||||
| Sequence_name | F08G12.4 | ||||||||
| Molecular_name | F08G12.4 | ||||||||
| F08G12.4.1 | |||||||||
| CE03169 | |||||||||
| Other_name | CELE_F08G12.4 | Accession_evidence | NDB | BX284606 | |||||
| Public_name | vhl-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:43 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | vhl | ||||||||
| Allele (18) | |||||||||
| Strain | WBStrain00032096 | ||||||||
| WBStrain00004655 | |||||||||
| WBStrain00004677 | |||||||||
| WBStrain00004678 | |||||||||
| WBStrain00040827 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00063954 | ||||||||
| 00063955 | |||||||||
| 00063956 | |||||||||
| 00063957 | |||||||||
| 00063958 | |||||||||
| 00063959 | |||||||||
| Ortholog (28) | |||||||||
| Structured_description | Concise_description | vhl-1 is orthologous to the mammalian von Hippel-Landau tumor suppressor VHL, which is a cullin E3 ubiquitin ligase; vhl-1 promotes the ubiquitination and degradation of the hif-1 hypoxic response transcription factor; vhl-1 and hif-1 act to modulate life span and proteotoxicity, vhl-1 mutants live longer compared to wild-type, by a mechanism separate from dietary restriction and insulin signaling; vhl-1 may also have a hif-1 independent function related to the extracellular matrix. | Paper_evidence | WBPaper00004762 | |||||
| WBPaper00012813 | |||||||||
| WBPaper00033115 | |||||||||
| WBPaper00024375 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| WBPerson1823 | |||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Involved in response to hypoxia. Part of Cul2-RING ubiquitin ligase complex. Expressed in several structures, including ADFL and ADFR. Used to study clear cell renal cell carcinoma and von Hippel-Lindau disease. Human ortholog(s) of this gene implicated in several diseases, including carcinoma (multiple); familial erythrocytosis 2; and von Hippel-Lindau disease. Is an ortholog of human VHL (von Hippel-Lindau tumor suppressor). | 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:4467 | Homo sapiens | Paper_evidence | WBPaper00061713 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 28 Jun 2022 00:00:00 | ||||||||
| DOID:14175 | Homo sapiens | Paper_evidence | WBPaper00024375 | ||||||
| WBPaper00036343 | |||||||||
| Accession_evidence | OMIM | 193300 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| WBPerson38202 | |||||||||
| Date_last_updated | 02 Jul 2018 00:00:00 | ||||||||
| Potential_model | DOID:0060474 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12687) | |||||
| DOID:0050771 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12687) | ||||||
| DOID:10763 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12687) | ||||||
| DOID:8432 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12687) | ||||||
| DOID:4450 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12687) | ||||||
| DOID:3587 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12687) | ||||||
| DOID:1793 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12687) | ||||||
| DOID:9970 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12687) | ||||||
| DOID:684 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12687) | ||||||
| DOID:14175 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12687) | ||||||
| Disease_relevance | The human ortholog VHL is mutated in von Hippel-Landau syndrome; VHL functions as a recessive tumor suppressor gene and is involved in oxygen-sensing, microtubule stability and cilia formation; studies in elegans indicate that: the ubiquitin ligase vhl-1, and its target, the hif-1 hypoxic response transcription factor, modulate life-span, vhl-1 and hif-1 mutants are longer-lived; hif-1 also protects against DNA-damage-induced germ cell apoptosis by antagonizing the function of CEP-1, the homolog of the tumour suppressor p53. | Homo sapiens | Paper_evidence | WBPaper00038373 | |||||
| Accession_evidence | OMIM | 193300 | |||||||
| 608537 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 14 Feb 2012 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00000043 | ||||||||
| Models_disease_asserted | WBDOannot00000597 | ||||||||
| WBDOannot00000598 | |||||||||
| WBDOannot00000600 | |||||||||
| WBDOannot00000601 | |||||||||
| WBDOannot00001276 | |||||||||
| Molecular_info | Corresponding_CDS | F08G12.4 | |||||||
| Corresponding_transcript | F08G12.4.1 | ||||||||
| Associated_feature | WBsf648535 | ||||||||
| WBsf1006969 | |||||||||
| WBsf1006970 | |||||||||
| WBsf1023853 | |||||||||
| WBsf236370 | |||||||||
| Experimental_info | RNAi_result (26) | ||||||||
| Expr_pattern | Expr8170 | ||||||||
| Expr15110 | |||||||||
| Expr1019223 | |||||||||
| Expr1032939 | |||||||||
| Expr1148006 | |||||||||
| Expr2017996 | |||||||||
| Expr2036132 | |||||||||
| Drives_construct | WBCnstr00013155 | ||||||||
| WBCnstr00034097 | |||||||||
| WBCnstr00042008 | |||||||||
| Construct_product | WBCnstr00013155 | ||||||||
| WBCnstr00034097 | |||||||||
| Regulate_expr_cluster | WBPaper00024375:Up_N2_vs_vhl-1 | ||||||||
| WBPaper00024375:Up_vhl-1_vs_hif-1_vhl-1 | |||||||||
| Antibody | WBAntibody00000414 | ||||||||
| Microarray_results (19) | |||||||||
| Expression_cluster (78) | |||||||||
| Interaction (35) | |||||||||
| WBProcess | WBbiopr:00000096 | ||||||||
| Map_info | Map | X | Position | 2.87713 | Error | 0.015196 | |||
| Positive | Positive_clone | F08G12 | Inferred_automatically | From CDS info | |||||
| From sequence, transcript, pseudogene data | |||||||||
| Mapping_data | Multi_point | 4067 | |||||||
| 4442 | |||||||||
| 5397 | |||||||||
| Reference (65) | |||||||||
| Remark | Sequence connection from [Epstein ACR, Hodgkin JA, Ratcliffe PJ] | ||||||||
| Method | Gene |
