WormBase Tree Display for Gene: WBGene00021546
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| WBGene00021546 | SMap | S_parent | Sequence | Y43H11AL | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | laat-1 | Paper_evidence | WBPaper00041321 | |||||
| Person_evidence | WBPerson3997 | ||||||||
| Sequence_name | Y43H11AL.2 | ||||||||
| Molecular_name | Y43H11AL.2a | ||||||||
| Y43H11AL.2a.1 | |||||||||
| CE32969 | |||||||||
| Y43H11AL.2b | |||||||||
| CE50707 | |||||||||
| Y43H11AL.2b.1 | |||||||||
| Other_name | Y43H11AL.c | Curator_confirmed | WBPerson1983 | ||||||
| Remark | Old cosmid naming mapped via unique overlapping PCR_product on CDSs | ||||||||
| CELE_Y43H11AL.2 | Accession_evidence | NDB | BX284602 | ||||||
| Public_name | laat-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:31:04 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 31 Aug 2012 11:56:39 | WBPerson2970 | Name_change | CGC_name | laat-1 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | laat | ||||||||
| Allele (74) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (16) | |||||||||
| Contained_in_operon | CEOP2016 | ||||||||
| Ortholog (39) | |||||||||
| Structured_description | Automated_description | Enables L-arginine transmembrane transporter activity and L-lysine transmembrane transporter activity. Involved in basic amino acid transport; intracellular amino acid homeostasis; and positive regulation of autophagy. Located in lysosomal membrane. Used to study lysosomal storage disease. Is an ortholog of human SLC66A1 (solute carrier family 66 member 1). | 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:3211 | Homo sapiens | Paper_evidence | WBPaper00041321 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 21 Feb 2013 00:00:00 | ||||||||
| Disease_relevance | Human PQLC2 is a lysosomal lysine/arginine transporter and human Cystinosin (CTNS), a lysosomal membrane protein, is believed to be a cystine transporter; mutations in CTNS 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; Cystinosis is treated by cysteamine (an aminothiol), a therapeutic agent for cystinosis which 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; PQLC2 and CTNS are ortholgous to C. elegans ctns-1 and laat-1, respectively; in C. elegans, lysosomes purified from ctns-1(ok813) mutants showed cystine accumulation, suggesting that CTNS-1 mediates cystine efflux from lysosomes like human cystinosin; 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; studies using transfected human cell lines and mutant worms, show that human PQLC2 and C. elegans LAAT-1 functioned as the necessary lysine-cationic amino acid transporters; laat-1 mutant worms show elevated lysosomal lysine and arginine content and 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 | |||||||||
| 614760 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 07 May 2014 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000101 | ||||||||
| Molecular_info | Corresponding_CDS | Y43H11AL.2a | |||||||
| Y43H11AL.2b | |||||||||
| Corresponding_CDS_history | Y43H11AL.2:wp90 | ||||||||
| Corresponding_transcript | Y43H11AL.2a.1 | ||||||||
| Y43H11AL.2b.1 | |||||||||
| Other_sequence (37) | |||||||||
| Associated_feature | WBsf665304 | ||||||||
| WBsf976411 | |||||||||
| WBsf976412 | |||||||||
| WBsf976413 | |||||||||
| WBsf976414 | |||||||||
| WBsf986356 | |||||||||
| WBsf222578 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00065328 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00093044 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00091100 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00009333 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00037067 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00056537 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00110757 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00095079 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr10209 | ||||||||
| Expr13493 | |||||||||
| Expr1016801 | |||||||||
| Expr1039426 | |||||||||
| Expr1160013 | |||||||||
| Expr2012991 | |||||||||
| Expr2031223 | |||||||||
| Construct_product | WBCnstr00014801 | ||||||||
| WBCnstr00014802 | |||||||||
| Microarray_results (16) | |||||||||
| Expression_cluster (95) | |||||||||
| Interaction (13) | |||||||||
| Map_info | Map | II | Position | -15.74 | |||||
| Positive | Positive_clone | Y43H11AL | 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 |
