WormBase Tree Display for Gene: WBGene00010478
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WBGene00010478 | SMap | S_parent | Sequence | K01G5 | |||
---|---|---|---|---|---|---|---|
Identity | Version | 2 | |||||
Name | CGC_name | dkc-1 | Person_evidence | WBPerson260 | |||
Sequence_name | K01G5.5 | ||||||
Molecular_name | K01G5.5 | ||||||
K01G5.5.1 | |||||||
CE16195 | |||||||
Other_name | CELE_K01G5.5 | Accession_evidence | NDB | BX284603 | |||
Public_name | dkc-1 | ||||||
DB_info | Database (13) | ||||||
Species | Caenorhabditis elegans | ||||||
History | Version_change (2) | ||||||
Status | Live | ||||||
Gene_info | Biotype | SO:0001217 | |||||
Gene_class | dkc | ||||||
Allele (34) | |||||||
Strain | WBStrain00037243 | ||||||
RNASeq_FPKM (74) | |||||||
GO_annotation (18) | |||||||
Contained_in_operon | CEOP3842 | ||||||
Ortholog (36) | |||||||
Structured_description | Concise_description | The K01G5.5 gene encodes an ortholog of human DYSKERIN (DKC1; OMIM:300126), which when mutated leads to X-linked dyskeratosis congenita (OMIM:305000); the K01G5.5 protein is predicted to be mitochondrial with 68% accuracy. | Paper_evidence | WBPaper00004103 | |||
WBPaper00004424 | |||||||
Curator_confirmed | WBPerson1823 | ||||||
WBPerson567 | |||||||
Date_last_updated | 17 Jun 2004 00:00:00 | ||||||
Automated_description | Predicted to enable pseudouridine synthase activity. Predicted to be involved in box H/ACA RNA 3'-end processing and pseudouridine synthesis. Predicted to be located in nucleolus. Predicted to be part of box H/ACA snoRNP complex. Human ortholog(s) of this gene implicated in X-linked dyskeratosis congenita and aplastic anemia. Is an ortholog of human DKC1 (dyskerin pseudouridine synthase 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 | Potential_model | DOID:2729 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2890) | ||
DOID:12449 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2890) | ||||
DOID:0070025 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:2890) | ||||
Molecular_info (4) | |||||||
Experimental_info | RNAi_result | WBRNAi00016410 | Inferred_automatically | RNAi_primary | |||
WBRNAi00049635 | Inferred_automatically | RNAi_primary | |||||
WBRNAi00002578 | Inferred_automatically | RNAi_primary | |||||
WBRNAi00033832 | Inferred_automatically | RNAi_primary | |||||
WBRNAi00001600 | Inferred_automatically | RNAi_primary | |||||
WBRNAi00007830 | Inferred_automatically | RNAi_primary | |||||
Expr_pattern | Expr1027254 | ||||||
Expr1034573 | |||||||
Expr1153363 | |||||||
Expr2004655 | |||||||
Expr2022883 | |||||||
Drives_construct | WBCnstr00031390 | ||||||
Construct_product | WBCnstr00031390 | ||||||
Microarray_results (19) | |||||||
Expression_cluster (163) | |||||||
Interaction (397) | |||||||
Map_info | Map | III | Position | 5.19412 | |||
Positive | Positive_clone | K01G5 | Inferred_automatically | From sequence, transcript, pseudogene data | |||
Pseudo_map_position | |||||||
Reference | WBPaper00026935 | ||||||
WBPaper00030479 | |||||||
WBPaper00031949 | |||||||
WBPaper00038491 | |||||||
WBPaper00049828 | |||||||
WBPaper00054284 | |||||||
WBPaper00055090 | |||||||
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 |