WormBase Tree Display for Gene: WBGene00006922
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WBGene00006922 | SMap | S_parent | Sequence | F08G12 | |||
---|---|---|---|---|---|---|---|
Identity (6) | |||||||
Gene_info | Biotype | SO:0001217 | |||||
Gene_class | vhl | ||||||
Allele | WBVar00091544 | Inferred_automatically | From strain object: RB1398 | ||||
WBVar01499887 | |||||||
WBVar01499888 | |||||||
WBVar01499710 | |||||||
WBVar01186989 | |||||||
WBVar01186990 | |||||||
WBVar01186991 | |||||||
WBVar01186992 | |||||||
WBVar01186993 | |||||||
WBVar01186994 | |||||||
WBVar01186995 | |||||||
WBVar01679032 | |||||||
WBVar00100121 | |||||||
WBVar00091484 | |||||||
WBVar00517141 | |||||||
WBVar00517142 | |||||||
WBVar01498960 | |||||||
WBVar01500067 | |||||||
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 |