WormBase Tree Display for Gene: WBGene00008052
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| WBGene00008052 | SMap | S_parent | Sequence | C41C4 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 3 | |||||||
| Name | CGC_name | ctns-1 | Person_evidence | WBPerson1626 | |||||
| Sequence_name | C41C4.7 | ||||||||
| Molecular_name | C41C4.7a | ||||||||
| C41C4.7a.1 | |||||||||
| CE28541 | |||||||||
| C41C4.7b | |||||||||
| CE32325 | |||||||||
| C41C4.7b.1 | |||||||||
| Other_name | cup-17 | ||||||||
| CELE_C41C4.7 | Accession_evidence | NDB | BX284602 | ||||||
| Public_name | ctns-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 26 May 2004 16:54:48 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of WS125 | ||
| 2 | 07 Sep 2006 09:01:01 | WBPerson2970 | Name_change | CGC_name | ctns-1 | ||||
| 3 | 17 Feb 2017 10:34:17 | WBPerson2970 | Name_change | Other_name | cup-17 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | ctns | ||||||||
| Allele (30) | |||||||||
| Strain | WBStrain00031645 | ||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (19) | |||||||||
| Ortholog (37) | |||||||||
| Structured_description | Concise_description | ctns-1 encodes an ortholog of the human cystinosin (CTNS) gene, a lysosomal cystine transporter (LCT); in C. elegans, ctns-1 is required for the proper export of hydrolytic degradation products from lysosomes, specifically, for the efflux of cystine from lysosomes. | Paper_evidence | WBPaper00013614 | |||||
| WBPaper00031612 | |||||||||
| WBPaper00041321 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 09 Jul 2010 00:00:00 | ||||||||
| Automated_description | Predicted to enable L-cystine transmembrane transporter activity. Involved in L-cystine transport; lysosome organization; and phagocytosis. Located in lysosomal membrane. Used to study cystinosis. Human ortholog(s) of this gene implicated in cystinosis. Is an ortholog of human CTNS (cystinosin, lysosomal cystine transporter). | 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:1064 | Homo sapiens | Paper_evidence | WBPaper00041321 | ||||
| Accession_evidence | OMIM | 219750 | |||||||
| 219800 | |||||||||
| 219900 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 26 Mar 2013 00:00:00 | ||||||||
| Potential_model | DOID:1064 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2518) | |||||
| Disease_relevance | Mutations in human Cystinosin (CTNS), a lysosomal membrane protein, believed to be a cystine transporter, cause Cystinosis, a condition characterized by accumulation of the amino acid cystine, within cells; excess cystine damages cells and often forms crystals, causing damage to the kidney, eyes, muscles, pancreas and testes; there are three distinct types of cystinosis, in order of decreasing severity, they are: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis; cysteamine (an aminothiol), a therapeutic agent for cystinosis converts lysosomal free cystine to cysteine and the mixed disulfide of cysteine-cysteamine, which is thought to be exported from lysosomes as a lysine analog through a lysine/cationic amino acid transporter; in C. elegans, lysosomes purified from ctns-1(ok813) mutants (ctns-1 is ortholgous to human CTNS), showed cystine accumulation, suggesting that CTNS-1 mediates cystine efflux from lysosomes like human cystinosin; another protein, LAAT-1 in elegans is orthologous to human PQLC2, the putative lysine and arginine transporter; in laat-1(qx42) ctns-1(ok813) double mutants, however, cysteamine failed to deplete lysosomal cystine and suppress enlarged lysosomes, which accumulated high levels of cystine and the lysine analog mixed disulfide of cysteine-cysteamine; further, laat-1 embryos show retarded development and defective lysosomal yolk degradation; thus C. elegans serves as a genetic model to study the role of lysosomal amino acid transporters under normal and disease states. | Homo sapiens | Paper_evidence | WBPaper00041321 | |||||
| Accession_evidence | OMIM | 219900 | |||||||
| 219800 | |||||||||
| 219750 | |||||||||
| 606272 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 07 May 2014 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000118 | ||||||||
| Molecular_info | Corresponding_CDS | C41C4.7a | |||||||
| C41C4.7b | |||||||||
| Corresponding_CDS_history | C41C4.7:wp57 | ||||||||
| Corresponding_transcript | C41C4.7a.1 | ||||||||
| C41C4.7b.1 | |||||||||
| Other_sequence (103) | |||||||||
| Associated_feature | WBsf650295 | ||||||||
| WBsf650296 | |||||||||
| WBsf223445 | |||||||||
| WBsf223446 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00029719 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00062157 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00011834 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00042282 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr12519 | ||||||||
| Expr1015198 | |||||||||
| Expr1033497 | |||||||||
| Expr1146271 | |||||||||
| Expr2010578 | |||||||||
| Expr2028818 | |||||||||
| Drives_construct | WBCnstr00022455 | ||||||||
| WBCnstr00022459 | |||||||||
| WBCnstr00022460 | |||||||||
| WBCnstr00022461 | |||||||||
| WBCnstr00033274 | |||||||||
| Construct_product (11) | |||||||||
| Microarray_results (28) | |||||||||
| Expression_cluster (138) | |||||||||
| Interaction (48) | |||||||||
| Map_info | Map | II | Position | 0.705597 | Error | 0.001194 | |||
| Positive | Positive_clone | C41C4 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference (12) | |||||||||
| 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 |
