WormBase Tree Display for Gene: WBGene00002001
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| WBGene00002001 | SMap | S_parent | Sequence | T11G6 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | hars-1 | Person_evidence | WBPerson36 | |||||
| WBPerson10953 | |||||||||
| Sequence_name | T11G6.1 | ||||||||
| Molecular_name | T11G6.1a | ||||||||
| T11G6.1a.1 | |||||||||
| CE47289 | |||||||||
| T11G6.1b | |||||||||
| CE33829 | |||||||||
| T11G6.1b.1 | |||||||||
| Other_name | hrs-1 | ||||||||
| CELE_T11G6.1 | Accession_evidence | NDB | BX284604 | ||||||
| Public_name | hars-1 | ||||||||
| DB_info | Database (13) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:26 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| 2 | 29 Jan 2010 14:16:16 | WBPerson2970 | Name_change | CGC_name | hars-1 | ||||
| Other_name | hrs-1 | ||||||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | hars | ||||||||
| Allele (31) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (26) | |||||||||
| Contained_in_operon | CEOP4396 | ||||||||
| Ortholog (40) | |||||||||
| Structured_description | Concise_description | hars-1 encodes the sole histidyl-tRNA synthetase (HisRS), class II aminoacyl-tRNA synthetases that catalyze the attachment of histidine to its cognate tRNAs and are thus required for protein biosynthesis; in C. elegans, hars-1 is required for larval and germline development, and hence normal fertility; hars-1(RNAi) animals exhibit a reduced numbers of functional germ cells which is partially suppressed by ced-4 mutations, and a hars-1 loss-of-function mutation exhibits arrest at the L2 larval stage of development; mutations in human HARS2 cause Perrault syndrome, which is characterized by female ovarian dysgenesis and sensorineural hearing loss in both females and males. | Paper_evidence | WBPaper00005654 | |||||
| WBPaper00038291 | |||||||||
| Curator_confirmed | WBPerson1843 | ||||||||
| Date_last_updated | 06 Apr 2011 00:00:00 | ||||||||
| Automated_description | Predicted to enable RNA binding activity; histidine-tRNA ligase activity; and identical protein binding activity. Involved in germ cell development; nematode larval development; and translation. Predicted to be located in cytosol and mitochondrion. Used to study Perrault syndrome and sensory peripheral neuropathy. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease, axonal type 2W; Perrault syndrome; and Usher syndrome type 3B. Is an ortholog of human HARS1 (histidyl-tRNA synthetase 1) and HARS2 (histidyl-tRNA synthetase 2, mitochondrial). | 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:2491 | Homo sapiens | Paper_evidence | WBPaper00046919 | ||||
| WBPaper00046932 | |||||||||
| Accession_evidence | OMIM | 614504 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 24 May 2017 00:00:00 | ||||||||
| DOID:0050857 | Homo sapiens | Paper_evidence | WBPaper00038291 | ||||||
| Accession_evidence | OMIM | 614926 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 21 Sep 2018 00:00:00 | ||||||||
| Potential_model | DOID:0110842 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:4816) | |||||
| DOID:0050857 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:4817) | ||||||
| DOID:0110162 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:4816) | ||||||
| Disease_relevance | Mutations in human aminoacyl-tRNA synthatases (ARS) are implicated in inherited peripheral neuropathies like Charcot-Marie-Tooth (CMT) disease, hereditary motor and sensory neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN); variants in the human histidyl-tRNA synthetase gene (HARS) causes a late-onset sensory axonal neuropathy; mutations in human HARS2 are implicated in Perrault syndrome, characterized by hearing loss in males and abnormalities of the ovaries in affected females; when mutations similar to human HARS disease variants were introduced in C. elegans hars-1 via transgene expression in the worm, abnormal neuronal morphology was observed along with mobility defects, establishing C. elegans as a model system to study variant HARS-related neurotoxicities. | Homo sapiens | Accession_evidence | OMIM | 142810 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Models_disease_in_annotation | WBDOannot00000351 | ||||||||
| WBDOannot00000432 | |||||||||
| Models_disease_asserted | WBDOannot00000361 | ||||||||
| Molecular_info | Corresponding_CDS | T11G6.1a | |||||||
| T11G6.1b | |||||||||
| Corresponding_CDS_history | T11G6.1:wp99 | ||||||||
| T11G6.1a:wp230 | |||||||||
| Corresponding_transcript | T11G6.1a.1 | ||||||||
| T11G6.1b.1 | |||||||||
| Other_sequence (78) | |||||||||
| Associated_feature | WBsf646334 | ||||||||
| WBsf660643 | |||||||||
| WBsf660644 | |||||||||
| WBsf229051 | |||||||||
| Experimental_info | RNAi_result (18) | ||||||||
| Expr_pattern | Expr1014355 | ||||||||
| Expr1031166 | |||||||||
| Expr1156738 | |||||||||
| Expr2012370 | |||||||||
| Expr2030606 | |||||||||
| Drives_construct | WBCnstr00037965 | ||||||||
| Construct_product | WBCnstr00037965 | ||||||||
| Microarray_results (29) | |||||||||
| Expression_cluster (109) | |||||||||
| Interaction (91) | |||||||||
| Map_info | Map | IV | Position | 4.72237 | Error | 0.002487 | |||
| Positive | Positive_clone | C04G1 | Person_evidence | WBPerson36 | |||||
| Author_evidence | Amaar YG | ||||||||
| T11G6 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00038291 | ||||||||
| WBPaper00038491 | |||||||||
| WBPaper00046919 | |||||||||
| WBPaper00049531 | |||||||||
| WBPaper00049828 | |||||||||
| WBPaper00055090 | |||||||||
| WBPaper00057218 | |||||||||
| WBPaper00065341 | |||||||||
| Remark | 2230 nt gene encoding 525 aa predicted protein with extensive similarity to yeast and human histidyl-tRNA synthetases | ||||||||
| Data extracted from Amaar and Baillie, 1993 | |||||||||
| 1a is cytoplasmic and 1b is mitochondrial based on PSORT, iPSORT and SignalP analysis [030411 ck1] | Curator_confirmed | WBPerson1846 | |||||||
| 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 |
