WormBase Tree Display for Gene: WBGene00012341
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WBGene00012341 | SMap | S_parent | Sequence | W08D2 | |||||
---|---|---|---|---|---|---|---|---|---|
Identity | Version | 2 | |||||||
Name | CGC_name | catp-6 | Person_evidence | WBPerson61 | |||||
Sequence_name | W08D2.5 | ||||||||
Molecular_name | W08D2.5a | ||||||||
W08D2.5a.1 | |||||||||
CE53002 | |||||||||
W08D2.5b | |||||||||
CE44722 | |||||||||
W08D2.5c | |||||||||
CE46061 | |||||||||
W08D2.5b.1 | |||||||||
W08D2.5c.1 | |||||||||
Other_name | ATP13A2 | Paper_evidence | WBPaper00032527 | ||||||
CELE_W08D2.5 | Accession_evidence | NDB | BX284604 | ||||||
Public_name | catp-6 | ||||||||
DB_info | Database (14) | ||||||||
Species | Caenorhabditis elegans | ||||||||
History | Version_change | 1 | 26 May 2004 16:54:53 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of WS125 | ||
2 | 21 Oct 2008 09:57:23 | WBPerson2970 | Name_change | CGC_name | catp-6 | ||||
Status | Live | ||||||||
Gene_info | Biotype | SO:0001217 | |||||||
Gene_class | catp | ||||||||
Allele (90) | |||||||||
Strain | WBStrain00002639 | ||||||||
WBStrain00033185 | |||||||||
RNASeq_FPKM (74) | |||||||||
GO_annotation (27) | |||||||||
Ortholog (69) | |||||||||
Paralog (14) | |||||||||
Structured_description | Concise_description | catp-6 encodes a predicted lysosomal P-type transmembrane cation transporting ATPase orthologous to human ATP13A2/PARK9 and yeast Ypk9; catp-6 is an essential gene: loss-of-function catp-6 mutations result in embryonic lethality at the one-cell stage and maternal sterility; catp-6 mutation can also result in nicotine hypersensitivity and catp-6 interacts genetically with human alpha-synuclein; when human alpha-synuclein is overexpressed in dopaminergic neurons, coexpression of catp-6 can partially rescue the resulting neuronal deterioration; in addition, loss of capt-6 activity in muscle cells overexpressing alpha-synuclein enhances the resulting protein aggregation defects in an age-dependent manner. | Paper_evidence | WBPaper00004540 | |||||
WBPaper00026635 | |||||||||
WBPaper00031384 | |||||||||
WBPaper00032527 | |||||||||
Curator_confirmed | WBPerson1843 | ||||||||
Date_last_updated | 04 May 2009 00:00:00 | ||||||||
Automated_description | Predicted to enable ATPase-coupled monoatomic cation transmembrane transporter activity and polyamine transmembrane transporter activity. Involved in protein folding. Located in cytoplasmic vesicle and plasma membrane. Expressed in several structures, including egg-laying apparatus; gonad; oocyte; pharynx; and somatic gonad precursor. Used to study Parkinson's disease. Human ortholog(s) of this gene implicated in primary pulmonary hypertension. Is an ortholog of human ATP13A3 (ATPase 13A3). | 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:14330 | Homo sapiens | Paper_evidence | WBPaper00041253 | ||||
WBPaper00060660 | |||||||||
Accession_evidence | OMIM | 606693 | |||||||
Curator_confirmed | WBPerson324 | ||||||||
Date_last_updated | 24 Jan 2022 00:00:00 | ||||||||
Potential_model | DOID:14557 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:24113) | |||||
Disease_relevance | Mutations in human ATP13A2, a P-type transmembrane cation transporting ATPase, are associated with early-onset Parkinsonism with degeneration and dementia (Kufor-Rakeb syndrome); ATP13A2 orthologs in yeast (PARK9) and C. elegans (catp-6) genetically interact with human alpha-synuclein (alpha-syn), a key player in the pathogenesis of Parkinson''s disease, to suppress its toxicity; in elegans, alpha-synuclein toxicity is modeled by expressing it from the dopamine transporter (dat-1) gene promotor in transgenic GFP worms, resulting in an age-dependent progressive loss of dopaminergic neurons; co-expression of the elegans catp-6/ATP13A2, together with alpha-syn, in this system, partially rescues the neurodegeneration; further, it was seen that the knock-down of specific candidate genes in elegans, that interact with catp-6/ATP13A2, resulted in significant enhancement of alpha-syn-induced dopaminergic neurodegeneration; these catp-6/ATP13A2 interactors include the elegans orthologs of: neuropeptide Y receptor Y1 (npr-4), homeodomain interacting protein kinase 1 (hpk-1), AP2 associated kinase 1 (AAK1), coagulation factor II (thrombin) receptor (dop-2 and npr-24), histone deacetylase 6 (hda-6), signal peptidase complex subunit 2 (hpo-21) and YIP1 interacting factor homolog A (yif-1). | Homo sapiens | Paper_evidence | WBPaper00032527 | |||||
Accession_evidence | OMIM | 606693 | |||||||
610513 | |||||||||
Curator_confirmed | WBPerson324 | ||||||||
Date_last_updated | 18 Nov 2013 00:00:00 | ||||||||
Models_disease_in_annotation | WBDOannot00000245 | ||||||||
Models_disease_asserted | WBDOannot00001096 | ||||||||
WBDOannot00001097 | |||||||||
Molecular_info | Corresponding_CDS | W08D2.5a | |||||||
W08D2.5b | |||||||||
W08D2.5c | |||||||||
Corresponding_CDS_history | W08D2.5:wp92 | ||||||||
W08D2.5a:wp270 | |||||||||
Corresponding_transcript | W08D2.5a.1 | ||||||||
W08D2.5b.1 | |||||||||
W08D2.5c.1 | |||||||||
Other_sequence (41) | |||||||||
Associated_feature | WBsf652087 | ||||||||
WBsf997482 | |||||||||
WBsf1018004 | |||||||||
Experimental_info | RNAi_result | WBRNAi00019715 | Inferred_automatically | RNAi_primary | |||||
WBRNAi00001518 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00036373 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00113892 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00054975 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00066537 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00078098 | Inferred_automatically | RNAi_primary | |||||||
WBRNAi00076748 | Inferred_automatically | RNAi_primary | |||||||
Expr_pattern (18) | |||||||||
Drives_construct | WBCnstr00003186 | ||||||||
WBCnstr00018800 | |||||||||
WBCnstr00029988 | |||||||||
WBCnstr00041178 | |||||||||
Construct_product | WBCnstr00006216 | ||||||||
WBCnstr00018800 | |||||||||
WBCnstr00029988 | |||||||||
WBCnstr00041178 | |||||||||
Microarray_results (23) | |||||||||
Expression_cluster (111) | |||||||||
Interaction (31) | |||||||||
Map_info | Map | IV | Position | 4.42498 | Error | 0.000925 | |||
Positive | Positive_clone | W08D2 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
Pseudo_map_position | |||||||||
Reference (15) | |||||||||
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 |